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	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_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	ACHILLES_Lineage_Results_Top_Genes	CGC_CancerGermlineMut	CGC_CancerMolecularGenetics	CGC_CancerSomaticMut	CGC_CancerSyndrome	CGC_Chr	CGC_ChrBand	CGC_GeneID	CGC_Name	CGC_OtherGermlineMut	CGC_TissueType	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	annotation_transcript	bcgsc	broad	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	entrez_gene_id	external_id_capture	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	hgsc	igv_bad	ucsc	t_alt_count	t_ref_count	n_alt_count	n_ref_count	validation_judgement_rna	validation_power_rna	validation_tumor_alt_count_rna	validation_tumor_ref_count_rna	validation_normal_alt_count_rna	validation_normal_ref_count_rna	min_val_count_rna	validation_judgement_targeted	validation_power_targeted	validation_tumor_alt_count_targeted	validation_tumor_ref_count_targeted	validation_normal_alt_count_targeted	validation_normal_ref_count_targeted	min_val_count_targeted	validation_judgement_localAssembly	validation_power_localAssembly	t_alt_count_localAssembly	t_ref_count_localAssembly	n_alt_count_localAssembly	n_ref_count_localAssembly	min_val_count_localAssembly	validation_judgement_KRAS	validation_power_KRAS	t_alt_count_KRAS	t_ref_count_KRAS	n_alt_count_KRAS	n_ref_count_KRAS	min_val_count_KRAS	pon_loglike	pon_pass_loglike	localAssembly_detected	ExAC_AN	ExAC_AC	ExAC_LQ	passExAC	SCNA_NA	SCNA_NB	SCNA_q_hat	SCNA_tau	IS_SCNA	purity	ploidy	dna_fraction_in_tumor	CCF_hat	CCF_CI95_low	CCF_CI95_high	CCF_mode	CCF_mean	CCF_median	clonal	CCF_CI_low	CCF_CI_high
IGHMBP2	3508	broad.mit.edu	37	11	68675791	68675791	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:68675791delC	ENST00000255078.3	+	3	546	c.435delC	c.(433-435)tacfs	p.Y145fs	IGHMBP2_ENST00000539224.1_Frame_Shift_Del_p.Y145fs	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2			36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		ATGTCACTTACAGGCGACTGA	0.458000																								0							SO:0001589	frameshift_variant			ENST00000255078.3	0	1	hg19	CCDS8187.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	1	0	0	42	372	0	64	0	2.772671e-01	0	10	0	64	2	0	0	0	0	0	0		1	1	47	367	0	64	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.124139	0	0.580000	1.890000	0.586003	0.350000	2.500000e-01	1.000000	0.350000	0.385254	0.350000	0	0.300000	0.420000
ERC1	23085	broad.mit.edu	37	12	1292488	1292488	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:1292488delA	ENST00000397203.2	+	11	2464	c.2058delA	c.(2056-2058)gcafs	p.A686fs	ERC1_ENST00000546231.2_Frame_Shift_Del_p.A686fs|ERC1_ENST00000360905.4_Frame_Shift_Del_p.A686fs|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Frame_Shift_Del_p.A686fs|ERC1_ENST00000543086.3_Frame_Shift_Del_p.A658fs|ERC1_ENST00000355446.5_Frame_Shift_Del_p.A686fs			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1			38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		CTTCTCTGGCATCCTCAGGAC	0.368000																								0							SO:0001589	frameshift_variant			ENST00000397203.2	1	1	hg19	CCDS8508.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	1	0	0	210	601	0	79	1	8.862921e-01	3	10	0	79	2	0	0	0	0	0	0		1	1	212	600	0	77	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.712258	1	0.580000	1.890000	0.674419	0.990000	9.900000e-01	1.000000	1.000000	0.999743	0.990000	1	0.990000	1.000000
PARP15	165631	broad.mit.edu	37	3	122345673	122345673	+	Splice_Site	DEL	G	G	-			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:122345673delG	ENST00000464300.2	+	9	1297		c.e9-1		PARP15_ENST00000310366.4_Splice_Site|PARP15_ENST00000465304.1_Splice_Site|PARP15_ENST00000493645.1_Intron|PARP15_ENST00000483793.1_Intron	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15			24					TTTTTTTTCAGGAAATGCCGG	0.373000																								0							SO:0001630	splice_region_variant			ENST00000464300.2	1	1	hg19	CCDS46893.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	1	0	0	54	251	0	42	0	1.822986e-13	0	1	0	42	2	0	0	0	0	0	0		1	1	63	249	0	41	2	0	0	0	0	0	0		-3.156361	1	1	0	0		1	0	0	0	2.070095	0	0.580000	1.890000	0.580000	0.600000	4.600000e-01	0.760000	0.610000	0.616300	0.600000	0	0.530000	0.690000
PHF15	0	broad.mit.edu	37	5	133901907	133901907	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:133901907delC	ENST00000402835.1	+	9	1326	c.1071delC	c.(1069-1071)ttcfs	p.F357fs	PHF15_ENST00000282605.4_Frame_Shift_Del_p.F357fs|PHF15_ENST00000361895.2_Frame_Shift_Del_p.F357fs|PHF15_ENST00000395003.1_Frame_Shift_Del_p.F357fs								22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		AGGTCAAGTTCAAGTCATTCT	0.567000																								0							SO:0001589	frameshift_variant			ENST00000402835.1	1	1	hg19																																																																																					TCGA-IB-A6UF-01A-23D-A33T-08	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1	1	0	0	130	537	0	99	1	9.999950e-01	11	62	0	99	2	0	0	0	0	0	0		1	1	129	531	0	99	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.101368	0	0.580000	1.890000	0.582422	0.670000	5.700000e-01	0.800000	0.670000	0.681561	0.670000	0	0.620000	0.730000
GBF1	8729	broad.mit.edu	37	10	104117903	104117903	+	Silent	SNP	G	G	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:104117903G>T	ENST00000369983.3	+	9	1007	c.747G>T	c.(745-747)ctG>ctT	p.L249L		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1			71		Colorectal(252;0.0236)			GTTCAGAGCTGCCCACTCCCA	0.507000																								0							SO:0001819	synonymous_variant			ENST00000369983.3	1	1	hg19	CCDS7533.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1	1	0	1	241	781	0	179	1	9.997901e-01	19	23	0	179	2		0	0	0	0	0	2	1	1	238	776	0	178	2		0	0	0	0	179	2	-20.000000	1	1	0	0		1	1	2	3	2.146677	0	0.580000	1.890000	0.588356	0.820000	7.300000e-01	1.000000	0.830000	0.840325	0.820000	0	0.780000	0.890000
SORCS1	114815	broad.mit.edu	37	10	108412204	108412204	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:108412204G>A	ENST00000263054.6	-	18	2418	c.2411C>T	c.(2410-2412)aCg>aTg	p.T804M	SORCS1_ENST00000344440.6_Missense_Mutation_p.T804M|SORCS1_ENST00000369698.1_Missense_Mutation_p.T339M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1			127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)			TCCATCAGCCGTGACTATCCG	0.532000																								0							SO:0001583	missense			ENST00000263054.6	1	1	hg19	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231893	0.58777	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.69561	-0.41;-0.41;-0.41	5.74	5.74	0.90152	PKD/Chitinase domain (1);PKD domain (1);	0.000000	0.85682	D	0.000000	T	0.80924	0.4717	L	0.61218	1.895	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.993;0.997;0.998;0.997	T	0.78580	-0.2149	9	.	.	.	-17.2727	19.9145	0.97053	0.0:0.0:1.0:0.0	.	804;804;804;804;804	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	M	339;804;804	ENSP00000358712:T339M;ENSP00000263054:T804M;ENSP00000345964:T804M	.	T	-	2	0	SORCS1	108402194	1.000000	0.71417	0.959000	0.39883	0.138000	0.21146	9.277000	0.95755	2.709000	0.92574	0.655000	0.94253	ACG		TCGA-IB-A6UF-01A-23D-A33T-08	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	1	0	1	135	317	0	68		0	0	0	0	68	2	1	1	158	494	2	1110	5	1	1	135	309	0	68	2		0	0	0	0	68	2	-20.000000	1	1	121412	10	43	1	1	2	3	2.146677	0	0.580000	1.890000	0.588356	0.990000	9.000000e-01	1.000000	1.000000	0.989796	0.990000	1	0.970000	1.000000
GAD2	2572	broad.mit.edu	37	10	26589858	26589858	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:26589858G>A	ENST00000376261.3	+	16	2229	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	GAD2_ENST00000259271.3_Missense_Mutation_p.E576K	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)			48					CTTCCTGATTGAAGAAATAGA	0.438000																								0							SO:0001583	missense			ENST00000376261.3	1	1	hg19	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.366041	0.61513	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.39592	1.07;1.07	5.71	5.71	0.89125	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.173449	0.53938	D	0.000050	T	0.37865	0.1019	L	0.35542	1.07	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.08269	-1.0730	10	0.46703	T	0.11	-27.4343	19.8579	0.96771	0.0:0.0:1.0:0.0	.	576	Q05329	DCE2_HUMAN	K	576	ENSP00000365437:E576K;ENSP00000259271:E576K	ENSP00000259271:E576K	E	+	1	0	GAD2	26629864	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.687000	0.91594	0.655000	0.94253	GAA		TCGA-IB-A6UF-01A-23D-A33T-08	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	1	0	0	38	488	0	92	0	0	0	1	0	92	2		0	0	0	0	0	2	1	1	38	481	0	91	2		0	0	0	0	92	2	-9.272560	1	1	0	0		1	1	2	3	2.111627	0	0.580000	1.890000	0.584816	0.250000	1.700000e-01	1.000000	0.250000	0.278686	0.250000	0	0.210000	0.300000
PTCHD3	374308	broad.mit.edu	37	10	27702453	27702453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:27702453G>A	ENST00000438700.3	-	1	844	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3			55					CCCTTTTCCCGCGCCACGCGC	0.627000																								0							SO:0001583	missense			ENST00000438700.3	1	1	hg19	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524459	0.27299	.	.	ENSG00000182077	ENST00000438700	D	0.85702	-2.02	3.93	-0.963	0.10330	.	3.428320	0.00760	N	0.001132	T	0.75258	0.3825	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.09377	0.004	T	0.63985	-0.6513	10	0.66056	D	0.02	-0.2446	14.3009	0.66352	0.0:0.7511:0.2489:0.0	.	243	Q3KNS1	PTHD3_HUMAN	W	243	ENSP00000417658:R243W	ENSP00000417658:R243W	R	-	1	2	PTCHD3	27742459	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.661000	0.05311	-0.023000	0.13963	-0.311000	0.09066	CGG		TCGA-IB-A6UF-01A-23D-A33T-08	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	1	0	1	78	225	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1	78	225	0	49	2		0	0	0	0	51	2	-20.000000	1	1	121406	1	33	1	1	2	3	2.111627	0	0.580000	1.890000	0.584816	0.890000	7.300000e-01	1.000000	1.000000	0.898314	0.890000	1	0.810000	1.000000
RBP3	5949	broad.mit.edu	37	10	48388884	48388884	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:48388884C>T	ENST00000224600.4	-	1	2107	c.1994G>A	c.(1993-1995)cGg>cAg	p.R665Q	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial			59				Vitamin A(DB00162)	CAGCTTGGCCCGCAGGAGGGC	0.677000																								0							SO:0001583	missense			ENST00000224600.4	1	1	hg19	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.163647	0.00318	.	.	ENSG00000107618	ENST00000224600	T	0.61859	0.07	5.53	-2.86	0.05717	.	1.155020	0.06333	N	0.706523	T	0.31009	0.0783	N	0.03608	-0.345	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.22871	-1.0204	10	0.13853	T	0.58	-0.4135	11.9866	0.53151	0.0:0.379:0.0:0.621	.	665	P10745	RET3_HUMAN	Q	665	ENSP00000224600:R665Q	ENSP00000224600:R665Q	R	-	2	0	RBP3	48008890	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-1.070000	0.03440	-0.584000	0.05913	-0.254000	0.11334	CGG		TCGA-IB-A6UF-01A-23D-A33T-08	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	1	0	1	59	161	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1	59	158	0	50	2		0	0	0	0	50	2	-5.215649	1	1	121232	1	31	1	1	2	3	2.126813	0	0.580000	1.890000	0.586003	0.940000	7.400000e-01	1.000000	1.000000	0.926020	0.940000	1	0.830000	1.000000
SLIT1	6585	broad.mit.edu	37	10	98764503	98764503	+	Silent	SNP	G	G	C			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:98764503G>C	ENST00000266058.4	-	33	3902	c.3657C>G	c.(3655-3657)ggC>ggG	p.G1219G	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.G1219G	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)			78		Colorectal(252;0.162)			CACGCACATGGCCCTGGTACA	0.597000																								0							SO:0001819	synonymous_variant			ENST00000266058.4	1	1	hg19	CCDS7453.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	1	0	1	86	197	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1	85	194	0	57	2		0	0	0	0	58	2	-20.000000	1	1	0	0		1	1	2	3	2.146677	0	0.580000	1.890000	0.588356	0.990000	8.800000e-01	1.000000	1.000000	0.988343	0.990000	1	0.970000	1.000000
ELMOD1	55531	broad.mit.edu	37	11	107526732	107526732	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:107526732A>T	ENST00000265840.7	+	11	1037	c.772A>T	c.(772-774)Acc>Tcc	p.T258S	ELMOD1_ENST00000531234.1_Missense_Mutation_p.T252S|ELMOD1_ENST00000443271.2_Missense_Mutation_p.T250S	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1			19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)			AGCTCTAAAAACCCATTTCTA	0.373000																								0							SO:0001583	missense			ENST00000265840.7	0	1	hg19	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	A	15.53	2.861859	0.51482	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	T;T;T	0.27720	1.65;1.65;1.65	6.16	6.16	0.99307	Engulfment/cell motility, ELMO (2);	0.141782	0.64402	D	0.000006	T	0.26340	0.0643	L	0.39147	1.195	0.80722	D	1	B;B	0.28470	0.213;0.178	B;B	0.30401	0.115;0.07	T	0.05699	-1.0869	10	0.06365	T	0.9	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	258;250	Q8N336;G5E9S5	ELMD1_HUMAN;.	S	252;258;250	ENSP00000433232:T252S;ENSP00000265840:T258S;ENSP00000412257:T250S	ENSP00000265840:T258S	T	+	1	0	ELMOD1	107031942	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.143000	0.77348	2.367000	0.80283	0.528000	0.53228	ACC		TCGA-IB-A6UF-01A-23D-A33T-08	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	0	0	0	13	17	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	9.998830e-01	13	17	0	8	2		0	0	0	0	8	2	-16.328000	1	1	119174	1	28	1	1	2	3	2.124139	0	0.580000	1.890000	0.586003	0.990000	9.300000e-01	1.000000	1.000000	0.995555	0.990000	1	0.990000	1.000000
ANO3	63982	broad.mit.edu	37	11	26463589	26463589	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:26463589C>A	ENST00000256737.3	+	2	1023	c.171C>A	c.(169-171)ttC>ttA	p.F57L	ANO3_ENST00000537978.1_Missense_Mutation_p.F41L|ANO3_ENST00000525139.1_Missense_Mutation_p.F41L|ANO3_ENST00000531646.1_Missense_Mutation_p.F57L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3			68					CTTCCCTCTTCCAGTCAACCG	0.468000																								0							SO:0001583	missense			ENST00000256737.3	1	1	hg19	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	9.670	1.146527	0.21288	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.24	1.93	0.25924	.	0.141341	0.49916	D	0.000138	T	0.30230	0.0758	N	0.03608	-0.345	0.27524	N	0.951301	B	0.02656	0.0	B	0.01281	0.0	T	0.19063	-1.0317	10	0.10902	T	0.67	.	6.8171	0.23837	0.0:0.6403:0.0:0.3597	.	57	Q9BYT9	ANO3_HUMAN	L	41;41;57;57	ENSP00000440737:F41L;ENSP00000432576:F41L;ENSP00000256737:F57L;ENSP00000435275:F57L	ENSP00000256737:F57L	F	+	3	2	ANO3	26420165	0.978000	0.34361	1.000000	0.80357	0.958000	0.62258	-0.158000	0.10070	0.268000	0.21939	0.650000	0.86243	TTC		TCGA-IB-A6UF-01A-23D-A33T-08	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	1	0	1	239	595	0	135		0	0	0	0	135	2		0	0	0	0	0	2	1	1	239	584	0	134	2		0	0	0	0	135	2	-20.000000	1	1	0	0		1	1	2	3	2.084175	0	0.580000	1.890000	0.581214	0.980000	8.800000e-01	1.000000	1.000000	0.973933	0.980000	1	0.930000	1.000000
LPXN	9404	broad.mit.edu	37	11	58317463	58317463	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:58317463C>T	ENST00000395074.2	-	6	731	c.643G>A	c.(643-645)Gct>Act	p.A215T	LPXN_ENST00000528954.1_Missense_Mutation_p.A220T|LPXN_ENST00000528489.1_Missense_Mutation_p.A195T	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin			14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)			ATGGGAGCAGCGCAGTAAGCA	0.493000																								0							SO:0001583	missense			ENST00000395074.2	1	1	hg19	CCDS7969.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194268	0.58017	.	.	ENSG00000110031	ENST00000528954;ENST00000395074	D;D	0.87029	-2.2;-2.2	5.95	5.95	0.96441	Zinc finger, LIM-type (5);	0.121122	0.64402	D	0.000017	D	0.84973	0.5591	N	0.21373	0.66	0.41615	D	0.988935	P;D;P	0.71674	0.845;0.998;0.853	B;P;B	0.58130	0.34;0.833;0.439	D	0.84694	0.0724	10	0.52906	T	0.07	.	8.061	0.30633	0.1594:0.7622:0.0:0.0784	.	195;220;215	B7Z5P7;B4DV71;O60711	.;.;LPXN_HUMAN	T	220;215	ENSP00000431284:A220T;ENSP00000378512:A215T	ENSP00000378512:A215T	A	-	1	0	LPXN	58074039	0.996000	0.38824	0.831000	0.32960	0.943000	0.58893	3.514000	0.53422	2.824000	0.97209	0.655000	0.94253	GCT		TCGA-IB-A6UF-01A-23D-A33T-08	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	1	0	1	157	352	0	103	1	9.906770e-01	5	14	0	103	2		0	0	0	0	0	2	1	1	157	348	0	102	2		0	0	0	0	103	2	-11.755210	1	1	121412	2	33	1	1	2	3	2.093093	0	0.580000	1.890000	0.582422	0.990000	9.200000e-01	1.000000	1.000000	0.994293	0.990000	1	0.990000	1.000000
PLCB3	5331	broad.mit.edu	37	11	64031070	64031070	+	Splice_Site	SNP	G	G	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:64031070G>T	ENST00000540288.1	+	20	2558		c.e20+1		PLCB3_ENST00000325234.5_Splice_Site|PLCB3_ENST00000279230.6_Splice_Site	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)			33					ATCCGCTCCGGTGAGGCCTTG	0.647000																								0							SO:0001630	splice_region_variant			ENST00000540288.1	1	0	hg19	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205412	0.79127	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0853	0.86610	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLCB3	63787646	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.400000	0.97290	2.404000	0.81709	0.561000	0.74099	.		TCGA-IB-A6UF-01A-23D-A33T-08	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1	1	0	0	64	151	0	49	0	9.068617e-02	1	1	0	49	2		0	0	0	0	0	2	1	1	65	150	0	49	2		0	0	0	0	49	2	-20.000000	1	1	0	0		1	1	2	3	2.124139	0	0.580000	1.890000	0.586003	0.990000	8.300000e-01	1.000000	1.000000	0.976609	0.990000	1	0.930000	1.000000
POLR3B	55703	broad.mit.edu	37	12	106821038	106821038	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:106821038G>A	ENST00000228347.4	+	13	1387	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.D331N	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B			57					AAAGATTGCCGACCAGGTGAT	0.353000																								0							SO:0001583	missense			ENST00000228347.4	0	1	hg19	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717076	0.89205	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;T	0.76448	0.03;0.03;-1.02	5.75	5.75	0.90469	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	T	0.81754	0.4889	M	0.72894	2.215	0.80722	D	1	P	0.35821	0.523	B	0.40940	0.344	T	0.81274	-0.1007	10	0.54805	T	0.06	-28.5091	20.3046	0.98621	0.0:0.0:1.0:0.0	.	389	Q9NW08	RPC2_HUMAN	N	389;389;331;147;52	ENSP00000228347:D389N;ENSP00000445721:D331N;ENSP00000448398:D147N	ENSP00000228347:D389N	D	+	1	0	POLR3B	105345168	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	9.304000	0.96190	2.878000	0.98634	0.650000	0.86243	GAC		TCGA-IB-A6UF-01A-23D-A33T-08	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	0	0	0	4	299	0	49	0	1.282031e-02	0	9	0	49	2		0	0	0	0	0	2	1	8.870701e-01	4	294	0	48	2		0	0	0	0	49	2	-2.874050	1	1	121404	2	33	1	1	2	3	2.092114	0	0.580000	1.890000	0.582422	0.040000	0	0.130000	0.040000	0.065805	0.040000	0	0.020000	0.080000
HIST4H4	121504	broad.mit.edu	37	12	14923783	14923783	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:14923783C>T	ENST00000539745.1	-	1	282	c.236G>A	c.(235-237)cGc>cAc	p.R79H	HIST4H4_ENST00000541592.1_5'Flank|RP11-174G6.5_ENST00000562691.2_RNA	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4			6					GACGGTCTTGCGCTTGGCGTG	0.587000											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000539745.1	0	1	hg19	CCDS8665.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227488	0.79576	.	.	ENSG00000197837	ENST00000539745	T	0.77358	-1.09	3.99	3.09	0.35607	.	0.000000	0.50627	U	0.000116	T	0.81950	0.4931	.	.	.	0.53005	D	0.999961	.	.	.	.	.	.	T	0.82623	-0.0366	7	0.87932	D	0	.	9.6665	0.39988	0.0:0.8959:0.0:0.1041	.	.	.	.	H	79	ENSP00000443017:R79H	ENSP00000350767:R79H	R	-	2	0	HIST4H4	14815050	1.000000	0.71417	0.991000	0.47740	0.588000	0.36517	5.280000	0.65603	1.035000	0.39972	0.585000	0.79938	CGC		TCGA-IB-A6UF-01A-23D-A33T-08	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400844.1	0	0	0	5	277	0	72	0	9.927413e-03	0	7	0	72	2		0	0	0	0	0	2	1	9.380859e-01	5	277	0	70	2		0	0	0	0	72	2	-2.784528	1	1	121412	1	30	1	0	1	1	1.502393	1	0.580000	1.890000	0.408451	0.040000	1.000000e-02	0.100000	0.040000	0.051452	0.040000	0	0.020000	0.070000
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	5144	Substitution - Missense(5142)|Insertion - In frame(2)	GRCh37	CM076251	KRAS	M	rs121913530	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-IB-A6UF-01A-23D-A33T-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	67	112	0	21	1	9.999426e-01	17	12	0	21	2	1	1	248	277	0	634	2	1	1	67	112	0	21	2	1	1	4368	3647	0	21	2	-20.000000	1	1	0	0		1	1	4	5	3.331817	1	0.580000	1.890000	0.744494	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
SCN8A	6334	broad.mit.edu	37	12	52183167	52183167	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:52183167G>T	ENST00000354534.6	+	24	4562	c.4384G>T	c.(4384-4386)Gtc>Ttc	p.V1462F	SCN8A_ENST00000545061.1_Missense_Mutation_p.V1421F	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit			55				Valproic Acid(DB00313)	GTTCATTGGTGTCATCATTGA	0.428000																								0							SO:0001583	missense			ENST00000354534.6	1	1	hg19	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844393	0.91197	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133	D;D;D	0.99080	-5.4;-5.4;-5.4	4.37	4.37	0.52481	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99393	0.9786	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.989	D	0.98548	1.0635	10	0.87932	D	0	.	18.2498	0.89998	0.0:0.0:1.0:0.0	.	1421;1462	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	F	1462;1421;1421	ENSP00000346534:V1462F;ENSP00000440360:V1421F;ENSP00000347255:V1421F	ENSP00000346534:V1462F	V	+	1	0	SCN8A	50469434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.713000	0.92767	0.655000	0.94253	GTC		TCGA-IB-A6UF-01A-23D-A33T-08	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	1	0	1	130	273	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	130	272	0	82	2		0	0	0	0	83	2	-20.000000	1	1	0	0		1	1	2	3	2.092114	0	0.580000	1.890000	0.582422	0.990000	9.500000e-01	1.000000	1.000000	0.997775	0.990000	1	0.990000	1.000000
HOXC4	3221	broad.mit.edu	37	12	54448134	54448134	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:54448134A>G	ENST00000430889.2	+	1	474	c.428A>G	c.(427-429)cAc>cGc	p.H143R	HOXC4_ENST00000609810.1_Missense_Mutation_p.H143R|HOXC4_ENST00000303406.4_Missense_Mutation_p.H143R	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4			13					AAAAAAATTCACGTTAGCACG	0.652000																								0							SO:0001583	missense			ENST00000430889.2	1	1	hg19	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949247	0.53186	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.89681	-2.55;-2.55	4.26	4.26	0.50523	Homeodomain-like (1);	0.117106	0.56097	D	0.000028	D	0.95133	0.8423	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.95959	0.8960	10	0.87932	D	0	.	12.7918	0.57539	1.0:0.0:0.0:0.0	.	143	P09017	HXC4_HUMAN	R	143	ENSP00000305973:H143R;ENSP00000399808:H143R	ENSP00000305973:H143R	H	+	2	0	HOXC4	52734401	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.711000	0.91396	1.918000	0.55548	0.379000	0.24179	CAC		TCGA-IB-A6UF-01A-23D-A33T-08	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1	1	0	0	52	154	0	32	1	8.053945e-01	2	9	0	32	2		0	0	0	0	0	2	1	9.999951e-01	52	151	1	31	19		0	0	0	0	32	2	-20.000000	1	1	0	0		1	1	2	3	2.092114	0	0.580000	1.890000	0.582422	0.870000	6.700000e-01	1.000000	1.000000	0.874722	0.870000	1	0.770000	0.990000
ARHGAP9	64333	broad.mit.edu	37	12	57873000	57873000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:57873000C>T	ENST00000356411.2	-	2	328	c.190G>A	c.(190-192)Gca>Aca	p.A64T	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.A143T|ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.A64T|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.A135T|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.A64T			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9			30			GBM - Glioblastoma multiforme(3;3.37e-34)		AGGCGTCTTGCCAACCACCAG	0.537000																								0							SO:0001583	missense			ENST00000356411.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	25.0	4.587742	0.86851	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	4.97	4.97	0.65823	Src homology-3 domain (4);	0.079838	0.49916	D	0.000134	T	0.55210	0.1906	M	0.64997	1.995	0.33210	D	0.553344	D;D;P;D;D	0.65815	0.986;0.995;0.77;0.982;0.986	P;D;P;P;P	0.67231	0.894;0.95;0.478;0.78;0.86	T	0.67256	-0.5716	10	0.62326	D	0.03	.	14.0957	0.65019	0.0:1.0:0.0:0.0	.	64;143;64;64;64	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	T	64;64;64;135;113	ENSP00000377380:A64T;ENSP00000348782:A64T;ENSP00000394307:A64T;ENSP00000377386:A135T	ENSP00000344852:A113T	A	-	1	0	ARHGAP9	56159267	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.695000	0.61767	2.460000	0.83146	0.655000	0.94253	GCA		TCGA-IB-A6UF-01A-23D-A33T-08	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0	6	680	0	106	0	1.181355e-04	0	2	0	106	2		0	0	0	0	0	2	1	9.636218e-01	6	671	0	106	2		0	0	0	0	106	2	-2.287919	0	1	0	0		1	1	2	3	2.092114	0	0.580000	1.890000	0.582422	0.020000	0	0.070000	0.040000	0.043983	0.020000	0	0.010000	0.050000
C1R	715	broad.mit.edu	37	12	7187985	7187985	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:7187985C>T	ENST00000542285.1	-	11	1962	c.1813G>A	c.(1813-1815)Gtt>Att	p.V605I				P00736	C1R_HUMAN	complement component 1, r subcomponent			16				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACTGCAAAAACGCCCCCACTA	0.572000																								0							SO:0001583	missense			ENST00000542285.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.64	3.178207	0.57692	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	T	0.41758	0.99	5.7	5.7	0.88788	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.092388	0.46145	D	0.000303	T	0.51483	0.1677	.	.	.	0.30586	N	0.762027	P	0.34934	0.476	B	0.43445	0.42	T	0.56595	-0.7953	9	0.62326	D	0.03	.	19.8479	0.96722	0.0:1.0:0.0:0.0	.	657	P00736	C1R_HUMAN	I	620;605	ENSP00000438615:V605I	ENSP00000290575:V620I	V	-	1	0	C1R	7058240	0.988000	0.35896	0.993000	0.49108	0.102000	0.19082	2.342000	0.43992	2.681000	0.91329	0.655000	0.94253	GTT		TCGA-IB-A6UF-01A-23D-A33T-08	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	95	114	0	46	1	1	152	1787	0	46	2		0	0	0	0	0	2	1	1	94	113	0	46	2		0	0	0	0	46	2	-20.000000	1	1	120996	9	39	1	0	1	1	1.518149	1	0.580000	1.890000	0.408451	0.960000	8.700000e-01	1.000000	0.990000	0.964953	0.960000	1	0.920000	1.000000
PPFIA2	8499	broad.mit.edu	37	12	81839441	81839441	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:81839441G>A	ENST00000549396.1	-	6	624	c.464C>T	c.(463-465)aCg>aTg	p.T155M	PPFIA2_ENST00000550359.2_Missense_Mutation_p.T2M|PPFIA2_ENST00000548586.1_Missense_Mutation_p.T155M|PPFIA2_ENST00000443686.3_Missense_Mutation_p.T81M|PPFIA2_ENST00000552948.1_Missense_Mutation_p.T155M|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550584.2_Missense_Mutation_p.T155M|PPFIA2_ENST00000333447.7_Missense_Mutation_p.T137M|PPFIA2_ENST00000549325.1_Missense_Mutation_p.T137M|PPFIA2_ENST00000407050.4_Missense_Mutation_p.T81M	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2			85					TTTTACCACCGTCATTCTTAG	0.423000																								0							SO:0001583	missense			ENST00000549396.1	1	1	hg19	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147230	0.94603	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000551442	T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.63346	-0.6658	10	0.87932	D	0	-13.5925	20.115	0.97926	0.0:0.0:1.0:0.0	.	55;155	B7Z4H8;O75334	.;LIPA2_HUMAN	M	155;137;81;166;137;155;81;155;137	ENSP00000450337:T155M;ENSP00000450298:T137M;ENSP00000385093:T81M;ENSP00000327416:T137M;ENSP00000449338:T155M;ENSP00000388373:T81M;ENSP00000447868:T155M;ENSP00000449469:T137M	ENSP00000327416:T137M	T	-	2	0	PPFIA2	80363572	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	9.869000	0.99810	2.761000	0.94854	0.650000	0.86243	ACG		TCGA-IB-A6UF-01A-23D-A33T-08	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1	1	0	1	54	130	0	53	0	0	0	1	0	53	2		0	0	0	0	0	2	1	1	54	128	0	53	2		0	0	0	0	53	2	-6.123750	1	1	120828	1	26	1	1	2	3	2.092114	0	0.580000	1.890000	0.582422	0.990000	7.900000e-01	1.000000	1.000000	0.964414	0.990000	1	0.900000	1.000000
TUBA3C	7278	broad.mit.edu	37	13	19751421	19751421	+	Silent	SNP	G	G	A	rs142245280		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr13:19751421G>A	ENST00000400113.3	-	4	806	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c			72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)			TGGAGGACACGATCTGCCCAA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000400113.3	1	1	hg19	CCDS9284.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	1	0	0	250	563	0	126		0	0	0	0	126	2		0	0	0	0	0	2	1	1	244	548	0	128	2		0	0	0	0	126	2	-20.000000	1	0	121412	10	45	1	1	2	3	2.125837	0	0.580000	1.890000	0.586003	0.990000	9.600000e-01	1.000000	1.000000	0.997827	0.990000	1	0.990000	1.000000
MTUS2	23281	broad.mit.edu	37	13	30002979	30002979	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr13:30002979G>A	ENST00000542829.1	+	0	134				MTUS2_ENST00000380808.2_De_novo_Start_InFrame|MTUS2_ENST00000431530.3_Intron			Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2			20					AGCCTGCCGGGATGGGCCATT	0.607000																								0											ENST00000542829.1	0	1	hg19																																																																																					TCGA-IB-A6UF-01A-23D-A33T-08	MTUS2-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	66	229	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1	66	224	0	49	2		0	0	0	0	49	2	-20.000000	1	1	0	0		1	0	1	1	2.057634	0	0.580000	1.890000	0.578778	0.760000	6.100000e-01	0.930000	0.770000	0.773584	0.760000	0	0.680000	0.850000
STXBP6	29091	broad.mit.edu	37	14	25325303	25325303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr14:25325303G>A	ENST00000323944.5	-	4	741	c.290C>T	c.(289-291)tCg>tTg	p.S97L	STXBP6_ENST00000546511.1_Missense_Mutation_p.S97L|STXBP6_ENST00000550887.1_Missense_Mutation_p.S97L|STXBP6_ENST00000358326.2_Missense_Mutation_p.S97L|STXBP6_ENST00000548724.1_Missense_Mutation_p.S97L|STXBP6_ENST00000419632.2_Missense_Mutation_p.S97L|STXBP6_ENST00000396700.1_Missense_Mutation_p.S97L			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)			7					AAACTCTGCCGAATCCTGGAA	0.388000																								0							SO:0001583	missense			ENST00000323944.5	0	1	hg19	CCDS9634.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781990	0.49891	.	.	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000358326	.	.	.	5.15	5.15	0.70609	.	0.189920	0.47455	D	0.000223	T	0.33147	0.0853	N	0.14661	0.345	0.50171	D	0.999858	P	0.34587	0.458	B	0.14578	0.011	T	0.28299	-1.0048	9	0.48119	T	0.1	0.0641	16.1225	0.81369	0.0:0.0:1.0:0.0	.	97	Q8NFX7	STXB6_HUMAN	L	97	.	ENSP00000324302:S97L	S	-	2	0	STXBP6	24395143	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.030000	0.64128	2.405000	0.81733	0.563000	0.77884	TCG		TCGA-IB-A6UF-01A-23D-A33T-08	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1	0	0	0	6	234	0	50	0	4.474082e-01	0	54	0	50	2		0	0	0	0	0	2	1	9.646186e-01	6	232	0	49	2		0	0	0	0	50	2	-2.322710	0	1	121374	1	28	1	1	2	3	2.075291	0	0.580000	1.890000	0.581214	0.090000	3.000000e-02	0.190000	0.080000	0.099740	0.090000	0	0.050000	0.140000
NPAS3	64067	broad.mit.edu	37	14	34269655	34269655	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr14:34269655G>A	ENST00000356141.4	+	12	2142	c.2142G>A	c.(2140-2142)tcG>tcA	p.S714S	NPAS3_ENST00000357798.5_Silent_p.S701S|NPAS3_ENST00000548645.1_Silent_p.S684S|NPAS3_ENST00000551492.1_Silent_p.S719S|NPAS3_ENST00000346562.2_Silent_p.S682S			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3			40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)		TTCCCGACTCGGTCCTCAccc	0.781000																								0							SO:0001819	synonymous_variant			ENST00000356141.4	0	1	hg19	CCDS53891.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1	0	0	0	5	66	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	9.351575e-01	5	64	0	14	2		0	0	0	0	15	2	-11.730440	1	1	0	0		1	1	2	3	2.075291	0	0.580000	1.890000	0.581214	0.260000	1.000000e-01	0.530000	0.240000	0.281397	0.260000	0	0.160000	0.390000
OCA2	4948	broad.mit.edu	37	15	28202828	28202828	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr15:28202828C>T	ENST00000354638.3	-	16	1845	c.1690G>A	c.(1690-1692)Gcc>Acc	p.A564T	OCA2_ENST00000382996.2_Missense_Mutation_p.A564T|OCA2_ENST00000353809.5_Missense_Mutation_p.A540T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II			85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)			TCGCGGCTGGCCGGGCTGATG	0.637000									Oculocutaneous Albinism															0							SO:0001583	missense	Familial Cancer Database		ENST00000354638.3	0	1	hg19	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800578	0.70567	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.90955	-2.76;-2.57;-2.74	5.8	5.8	0.92144	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	D	0.89825	0.6827	L	0.29908	0.895	0.53005	D	0.999962	P;P	0.50819	0.929;0.939	P;P	0.53549	0.729;0.673	D	0.87323	0.2319	10	0.23302	T	0.38	-14.3158	17.5483	0.87869	0.0:1.0:0.0:0.0	.	540;564	Q04671-2;Q04671	.;P_HUMAN	T	564;540;564	ENSP00000346659:A564T;ENSP00000261276:A540T;ENSP00000372457:A564T	ENSP00000261276:A540T	A	-	1	0	OCA2	25876423	1.000000	0.71417	0.994000	0.49952	0.464000	0.32679	6.883000	0.75595	2.746000	0.94184	0.591000	0.81541	GCC		TCGA-IB-A6UF-01A-23D-A33T-08	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	0	0	0	4	242	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	8.852180e-01	4	236	0	52	2		0	0	0	0	53	2	-3.761653	1	1	0	0		1	0	2	2	2.110430	1	0.580000	1.890000	0.580000	0.050000	1.000000e-02	0.140000	0.060000	0.069228	0.050000	0	0.030000	0.100000
IGDCC4	57722	broad.mit.edu	37	15	65681260	65681260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr15:65681260G>A	ENST00000352385.2	-	15	2802	c.2593C>T	c.(2593-2595)Cgg>Tgg	p.R865W		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4			44					CAGTGCAGCCGAACCGTGGAC	0.652000																								0							SO:0001583	missense			ENST00000352385.2	1	1	hg19	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703326	0.68501	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.58210	0.35	4.97	4.04	0.47022	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.356482	0.27397	N	0.019557	T	0.73393	0.3581	M	0.83223	2.63	0.32760	N	0.505288	D	0.89917	1.0	D	0.72338	0.977	T	0.82617	-0.0369	10	0.66056	D	0.02	-15.3636	14.6226	0.68597	0.0:0.0:0.8533:0.1467	.	865	Q8TDY8	IGDC4_HUMAN	W	865;594	ENSP00000319623:R865W	ENSP00000319623:R865W	R	-	1	2	IGDCC4	63468313	1.000000	0.71417	0.796000	0.32109	0.754000	0.42855	4.717000	0.61923	1.074000	0.40909	0.561000	0.74099	CGG		TCGA-IB-A6UF-01A-23D-A33T-08	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	1	0	1	72	92	0	39	0	0	0	1	0	39	2		0	0	0	0	0	2	1	1	69	91	0	39	2		0	0	0	0	39	2	-20.000000	1	1	0	0		1	0	1	1	1.514340	1	0.580000	1.890000	0.417960	0.980000	8.500000e-01	1.000000	1.000000	0.972118	0.980000	1	0.920000	1.000000
DIS3L	115752	broad.mit.edu	37	15	66607419	66607419	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr15:66607419G>A	ENST00000319212.4	+	7	910	c.860G>A	c.(859-861)cGc>cAc	p.R287H	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000441424.2_Missense_Mutation_p.R153H|DIS3L_ENST00000319194.5_Missense_Mutation_p.R204H	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease			33					GCTCGAAACCGCTCAATTCAT	0.478000																								0							SO:0001583	missense			ENST00000319212.4	0	1	hg19	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	G	36	5.664037	0.96745	.	.	ENSG00000166938	ENST00000319194;ENST00000441424;ENST00000319212	T;T;T	0.36699	1.24;1.24;1.24	5.34	5.34	0.76211	.	0.156269	0.56097	D	0.000038	T	0.72566	0.3476	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.81061	-0.1103	10	0.66056	D	0.02	-15.751	18.3807	0.90449	0.0:0.0:1.0:0.0	.	287;287	Q8TF46;Q8TF46-3	DI3L1_HUMAN;.	H	204;153;287	ENSP00000321583:R204H;ENSP00000388980:R153H;ENSP00000321711:R287H	ENSP00000321583:R204H	R	+	2	0	DIS3L	64394473	1.000000	0.71417	0.993000	0.49108	0.963000	0.63663	9.386000	0.97228	2.655000	0.90218	0.561000	0.74099	CGC		TCGA-IB-A6UF-01A-23D-A33T-08	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	0	0	0	6	342	1	68	0	4.306585e-02	0	16	1	68	2		0	0	0	0	0	2	0	1.455269e-02	5	339	1	67	17		0	0	0	1	68	2	-2.363023	0	1	0	0		1	0	1	1	1.514340	1	0.580000	1.890000	0.417960	0.040000	1.000000e-02	0.090000	0.040000	0.049567	0.040000	0	0.020000	0.070000
KIAA0556	23247	broad.mit.edu	37	16	27659970	27659970	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:27659970G>A	ENST00000261588.4	+	6	473	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556			76					GCTCCACATCGAACCTCCTGT	0.493000																								0							SO:0001583	missense			ENST00000261588.4	1	1	hg19	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	7.339	0.620581	0.14193	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.50548	0.74	4.82	1.53	0.23141	.	0.621024	0.16295	N	0.220719	T	0.39989	0.1099	L	0.46157	1.445	0.28141	N	0.929802	D;B	0.55605	0.972;0.086	P;B	0.45099	0.469;0.01	T	0.35025	-0.9805	10	0.10111	T	0.7	-3.534	12.6071	0.56529	0.0:0.4961:0.5039:0.0	.	17;152	Q8N803;O60303	.;K0556_HUMAN	K	152;16	ENSP00000261588:E152K	ENSP00000261588:E152K	E	+	1	0	KIAA0556	27567471	0.034000	0.19679	0.958000	0.39756	0.186000	0.23388	0.800000	0.27042	0.134000	0.18681	-0.181000	0.13052	GAA		TCGA-IB-A6UF-01A-23D-A33T-08	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	1	0	1	86	243	0	57	1	8.235598e-01	2	9	0	57	2		0	0	0	0	0	2	1	1	86	241	0	57	2		0	0	0	0	57	2	-20.000000	1	1	0	0		1	1	2	3	2.168314	0	0.580000	1.890000	0.590683	0.920000	7.600000e-01	1.000000	1.000000	0.924028	0.920000	1	0.840000	1.000000
MEFV	4210	broad.mit.edu	37	16	3293588	3293588	+	Silent	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever			50					CAAATCTTTGCGGGCCATCAG	0.517000																								0							SO:0001819	synonymous_variant			ENST00000219596.1	1	1	hg19	CCDS10498.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	1	0	1	352	818	1	196	0	0	0	1	1	196	2		0	0	0	0	0	2	1	1	347	808	1	196	20		0	0	0	1	196	2	-20.000000	1	1	121410	2	38	1	2	2	4	2.202141	0	0.580000	1.890000	0.607330	0.990000	9.900000e-01	1.000000	1.000000	0.999808	0.990000	1	0.990000	1.000000
DPEP2	64174	broad.mit.edu	37	16	68026461	68026461	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:68026461G>A	ENST00000572888.1	-	2	992	c.342C>T	c.(340-342)taC>taT	p.Y114Y	DPEP2_ENST00000393847.1_Silent_p.Y114Y|DPEP2_ENST00000412757.2_Silent_p.Y114Y			Q9H4A9	DPEP2_HUMAN	dipeptidase 2			17		Ovarian(137;0.192)			TGGTCTGGCCGTAGCTGAAAT	0.602000																								0							SO:0001819	synonymous_variant			ENST00000572888.1	0	1	hg19	CCDS10857.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	0	0	0	5	557	0	88	0	1.281202e-03	0	5	0	88	2		0	0	0	0	0	2	1	9.357163e-01	5	550	0	87	2		0	0	0	0	88	2	-2.503939	1	1	121412	2	34	1	1	2	3	2.128044	0	0.580000	1.890000	0.587183	0.030000	0	1.000000	0.040000	0.081876	0.030000	0	0.010000	0.060000
WFIKKN1	117166	broad.mit.edu	37	16	683104	683104	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:683104C>T	ENST00000319070.2	+	2	1016	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1			4		Hepatocellular(780;0.00335)			CCTGATCATGCGCCCTGATCA	0.662000																								0							SO:0001583	missense			ENST00000319070.2	0	1	hg19	CCDS10414.1	.	.	.	.	.	.	.	.	.	.	c	15.20	2.763443	0.49574	.	.	ENSG00000127578	ENST00000319070	T	0.70631	-0.5	4.71	3.71	0.42584	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.057277	0.64402	D	0.000003	T	0.81163	0.4765	M	0.72624	2.21	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	T	0.82752	-0.0302	10	0.72032	D	0.01	.	11.0862	0.48089	0.3279:0.6721:0.0:0.0	.	232	Q96NZ8	WFKN1_HUMAN	C	232	ENSP00000324763:R232C	ENSP00000324763:R232C	R	+	1	0	WFIKKN1	623105	0.996000	0.38824	0.990000	0.47175	0.767000	0.43475	0.491000	0.22419	2.174000	0.68829	0.486000	0.48141	CGC		TCGA-IB-A6UF-01A-23D-A33T-08	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206731.2	0	0	0	4	284	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	8.902209e-01	4	283	0	45	2		0	0	0	0	46	2	-4.086946	1	1	120734	1	26	1	1	2	3	2.156022	0	0.580000	1.890000	0.589523	0.050000	0	1.000000	0.050000	0.120980	0.050000	0	0.020000	0.100000
ZNF594	84622	broad.mit.edu	37	17	5085387	5085387	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:5085387G>A	ENST00000399604.4	-	1	2305	c.2165C>T	c.(2164-2166)gCt>gTt	p.A722V	ZNF594_ENST00000575779.1_Missense_Mutation_p.A722V			Q96JF6	ZN594_HUMAN	zinc finger protein 594			33					TTTGAGGAAAGCCGTGTGCCA	0.458000																								0							SO:0001583	missense			ENST00000399604.4	0	1	hg19	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	g	1.376	-0.584769	0.03827	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.28666	1.6	1.17	-2.35	0.06684	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15003	0.0362	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.21245	-1.0251	9	0.28530	T	0.3	.	3.8079	0.08785	0.0:0.276:0.5078:0.2162	.	722	Q96JF6	ZN594_HUMAN	V	722;289	ENSP00000382513:A722V	ENSP00000373874:A289V	A	-	2	0	ZNF594	5026111	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.467000	0.00461	-1.230000	0.02561	-1.706000	0.00718	GCT		TCGA-IB-A6UF-01A-23D-A33T-08	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	0	0	0	6	607	0	131	0	1.431008e-03	0	5	0	131	2		0	0	0	0	0	2	1	9.623361e-01	6	593	0	129	2		0	0	0	0	131	2	-2.836208	1	1	0	0		1	0	1	1	1.574888	1	0.580000	1.890000	0.417960	0.020000	0	0.050000	0.030000	0.028263	0.020000	0	0.010000	0.040000
USH1G	124590	broad.mit.edu	37	17	72915717	72915717	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:72915717G>A	ENST00000319642.1	-	2	1396	c.1214C>T	c.(1213-1215)gCc>gTc	p.A405V		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)		HN1/USH1G(2)	14	all_lung(278;0.172)|Lung NSC(278;0.207)				CAGGAGGGCGGCAAAGTCCTC	0.627000																								0							SO:0001583	missense			ENST00000319642.1	0	1	hg19	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	G	8.703	0.910112	0.17833	.	.	ENSG00000182040	ENST00000319642	T	0.49139	0.79	4.53	0.999	0.19862	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.770174	0.12427	N	0.469921	T	0.18800	0.0451	N	0.02765	-0.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16424	-1.0403	10	0.28530	T	0.3	-6.1315	3.7981	0.08747	0.2204:0.5:0.2796:0.0	.	405	Q495M9	USH1G_HUMAN	V	405	ENSP00000320076:A405V	ENSP00000320076:A405V	A	-	2	0	USH1G	70427312	0.662000	0.27439	0.015000	0.15790	0.947000	0.59692	3.769000	0.55303	0.479000	0.27511	0.555000	0.69702	GCC		TCGA-IB-A6UF-01A-23D-A33T-08	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	0	0	0	5	296	1	78		0	0	0	1	78	2		0	0	0	0	0	2	0	2.593770e-02	5	290	1	78	14		0	0	0	1	78	2	-2.694812	1	1	0	0		1	0	1	1	1.629491	1	0.580000	1.890000	0.410857	0.040000	1.000000e-02	0.090000	0.040000	0.048453	0.040000	0	0.020000	0.070000
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	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	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	SO:0001583	missense	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;	ENST00000269305.4	1	1	hg19	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		TCGA-IB-A6UF-01A-23D-A33T-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	54	68	0	34	1	1	25	27	0	34	2	1	1	254	448	0	1383	2	1	1	54	66	0	33	2		0	0	0	0	34	2	-20.000000	1	1	121412	3	34	1	0	1	1	1.575164	1	0.580000	1.890000	0.410857	0.950000	8.100000e-01	1.000000	1.000000	0.947607	0.950000	1	0.890000	1.000000
ZNF750	79755	broad.mit.edu	37	17	80788076	80788076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:80788076G>A	ENST00000269394.3	-	3	2947	c.2114C>T	c.(2113-2115)gCg>gTg	p.A705V	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.A306V|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	p.A705V(1)		31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		CTGCAGCTTCGCCTTCTTAGC	0.567000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000269394.3	1	1	hg19	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	G	2.983	-0.209835	0.06140	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.11604	2.76	5.28	-0.647	0.11468	.	1.559540	0.03792	N	0.263027	T	0.06690	0.0171	L	0.27053	0.805	0.09310	N	1	B	0.24132	0.098	B	0.14578	0.011	T	0.33599	-0.9862	9	.	.	.	0.0083	1.0216	0.01519	0.3312:0.2658:0.2669:0.136	.	705	Q32MQ0	ZN750_HUMAN	V	705;298	ENSP00000269394:A705V	.	A	-	2	0	ZNF750	78381365	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-0.130000	0.10498	-0.019000	0.14055	-0.339000	0.08088	GCG		TCGA-IB-A6UF-01A-23D-A33T-08	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	1	0	1	136	175	0	79	0	0	0	1	0	79	2		0	0	0	0	0	2	1	1	136	176	0	78	2		0	0	0	0	79	2	-19.999980	1	1	0	0		1	0	1	1	1.585809	1	0.580000	1.890000	0.420290	0.990000	9.100000e-01	1.000000	1.000000	0.989593	0.990000	1	0.960000	1.000000
GNAL	2774	broad.mit.edu	37	18	11752449	11752449	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr18:11752449G>A	ENST00000423027.3	+	1	338	c.17G>A	c.(16-18)gGc>gAc	p.G6D	GNAL_ENST00000334049.6_Intron|GNAL_ENST00000269162.5_Missense_Mutation_p.G6D|GNAL_ENST00000535121.1_Missense_Mutation_p.G6D			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type			12					TGTTTGGGCGGCAACAGCAAG	0.557000																								0							SO:0001583	missense			ENST00000423027.3	0	1	hg19	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599844	0.87055	.	.	ENSG00000141404	ENST00000535121;ENST00000269162;ENST00000423027	D;D;D	0.88975	-2.45;-2.45;-2.45	4.04	4.04	0.47022	.	.	.	.	.	D	0.90783	0.7106	L	0.34521	1.04	0.34358	D	0.690637	D	0.57257	0.979	D	0.69654	0.965	D	0.93188	0.6580	9	0.59425	D	0.04	.	15.6287	0.76885	0.0:0.0:1.0:0.0	.	6	P38405	GNAL_HUMAN	D	6	ENSP00000439023:G6D;ENSP00000269162:G6D;ENSP00000408489:G6D	ENSP00000269162:G6D	G	+	2	0	GNAL	11742449	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.928000	0.92853	2.542000	0.85734	0.491000	0.48974	GGC		TCGA-IB-A6UF-01A-23D-A33T-08	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	0	0	0	5	474	0	107		0	0	0	0	107	2	0	6.879596e-02	0	33	0	83	2	1	9.375014e-01	5	473	0	105	2		0	0	0	0	107	2	-1.947327	0	1	0	0		1	0	1	1	1.489096	1	0.580000	1.890000	0.408451	0.020000	0	0.060000	0.030000	0.030418	0.020000	0	0.010000	0.040000
FHOD3	80206	broad.mit.edu	37	18	33952645	33952645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr18:33952645G>A	ENST00000359247.4	+	3	275	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	FHOD3_ENST00000590592.1_Missense_Mutation_p.R92Q|FHOD3_ENST00000445677.1_Missense_Mutation_p.R92Q|FHOD3_ENST00000257209.4_Missense_Mutation_p.R92Q	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	p.R92Q(1)		90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)			CTCGTTAGGCGGGGCAAGAAG	0.527000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000359247.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	23.9	4.469151	0.84533	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.19250	2.16;2.16;2.16	5.07	5.07	0.68467	GTPase-binding/formin homology 3 (1);	0.059478	0.64402	D	0.000009	T	0.36635	0.0974	L	0.40543	1.245	0.28823	N	0.897568	D;D;P	0.71674	0.998;0.998;0.705	P;D;B	0.75484	0.74;0.986;0.016	T	0.09378	-1.0677	10	0.62326	D	0.03	.	13.8335	0.63395	0.0:0.0:1.0:0.0	.	92;92;92	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	Q	92	ENSP00000257209:R92Q;ENSP00000352186:R92Q;ENSP00000411430:R92Q	ENSP00000257209:R92Q	R	+	2	0	FHOD3	32206643	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.372000	0.73123	2.633000	0.89246	0.650000	0.86243	CGG		TCGA-IB-A6UF-01A-23D-A33T-08	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	1	0	1	48	71	0	22	1	8.912068e-01	8	0	0	22	2		0	0	0	0	0	2	1	1	47	71	0	22	2		0	0	0	0	22	2	-9.849917	1	1	121410	3	31	1	0	1	1	1.487366	1	0.580000	1.890000	0.408451	0.910000	7.400000e-01	1.000000	0.980000	0.908998	0.910000	1	0.830000	0.980000
RFX1	5989	broad.mit.edu	37	19	14088833	14088833	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:14088833G>A	ENST00000254325.4	-	8	1134	c.900C>T	c.(898-900)ggC>ggT	p.G300G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)			21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		TGGCATCGCCGCCCTCCACAT	0.657000																								0							SO:0001819	synonymous_variant			ENST00000254325.4	0	1	hg19	CCDS12301.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	0	0	0	5	494	0	120	0	1.724434e-02	0	16	0	120	2		0	0	0	0	0	2	1	9.341090e-01	5	484	0	119	2		0	0	0	0	120	2	-2.293379	0	1	121406	1	34	1	0	1	1	1.628610	1	0.580000	1.890000	0.420290	0.020000	0	0.060000	0.030000	0.029799	0.020000	0	0.010000	0.040000
TSHZ3	57616	broad.mit.edu	37	19	31768582	31768582	+	Missense_Mutation	SNP	G	G	A	rs112525703		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:31768582G>A	ENST00000240587.4	-	2	2444	c.2117C>T	c.(2116-2118)aCg>aTg	p.T706M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3			123	Esophageal squamous(110;0.226)				GATGATGGCCGTGCTGCCACT	0.627000																								0							SO:0001583	missense			ENST00000240587.4	1	1	hg19	CCDS12421.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	17.95	3.514351	0.64522	.	.	ENSG00000121297	ENST00000240587	T	0.38722	1.12	5.4	5.4	0.78164	.	5.739330	0.00951	N	0.002966	T	0.67961	0.2949	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.49652	-0.8917	10	0.54805	T	0.06	-23.6274	19.176	0.93603	0.0:0.0:1.0:0.0	.	706	Q63HK5	TSH3_HUMAN	M	706	ENSP00000240587:T706M	ENSP00000240587:T706M	T	-	2	0	TSHZ3	36460422	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	9.441000	0.97557	2.520000	0.84964	0.650000	0.86243	ACG		TCGA-IB-A6UF-01A-23D-A33T-08	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	1	0	1	116	272	0	83	0	6.684314e-01	0	7	0	83	2		0	0	0	0	0	2	1	1	116	269	0	81	2		0	0	0	0	83	2	-8.963517	1	1	119666	3	26	1	0	0	0	2.009038	0	0.580000	1.890000	0.567456	0.990000	8.400000e-01	1.000000	1.000000	0.970222	0.990000	1	0.910000	1.000000
MRPS12	6183	broad.mit.edu	37	19	39423173	39423173	+	Missense_Mutation	SNP	C	C	T	rs140018981	by1000genomes	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:39423173C>T	ENST00000407800.2	+	2	591	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	MRPS12_ENST00000308018.4_Missense_Mutation_p.R84W|MRPS12_ENST00000402029.3_Missense_Mutation_p.R84W|SARS2_ENST00000600042.1_5'Flank|SARS2_ENST00000430193.3_5'Flank|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000221431.6_5'Flank|CTC-360G5.8_ENST00000599996.1_Intron|CTC-360G5.9_ENST00000599320.1_lincRNA|SARS2_ENST00000594171.1_5'Flank	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12			2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		CTGTCGAGTGCGGCTCAGCAC	0.662000																								0							SO:0001583	missense			ENST00000407800.2	0	1	hg19	CCDS12525.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	21.5	4.155882	0.78114	.	.	ENSG00000128626	ENST00000308018;ENST00000407800;ENST00000402029	T;T;T	0.56611	0.45;0.45;0.45	6.07	5.03	0.67393	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.054650	0.85682	D	0.000000	D	0.82462	0.5042	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89042	0.3449	10	0.87932	D	0	-32.1337	14.5652	0.68171	0.1473:0.8527:0.0:0.0	.	84	O15235	RT12_HUMAN	W	84	ENSP00000308845:R84W;ENSP00000384952:R84W;ENSP00000384579:R84W	ENSP00000308845:R84W	R	+	1	2	MRPS12	44115013	1.000000	0.71417	0.997000	0.53966	0.411000	0.31082	3.906000	0.56340	1.559000	0.49555	0.655000	0.94253	CGG		TCGA-IB-A6UF-01A-23D-A33T-08	MRPS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463154.1	0	0	0	5	424	0	85	0	7.034281e-01	0	198	0	85	2		0	0	0	0	0	2	1	9.351500e-01	5	417	0	84	2		0	0	0	0	85	2	-2.875097	1	1	121398	5	35	1	0	0	0	2.009038	0	0.580000	1.890000	0.567456	0.030000	0	0.090000	0.040000	0.046371	0.030000	0	0.020000	0.070000
IRGQ	126298	broad.mit.edu	37	19	44096739	44096739	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:44096739G>A	ENST00000602269.1	-	2	1496	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G	IRGQ_ENST00000601520.1_Intron|IRGQ_ENST00000422989.1_Silent_p.G437G|L34079.2_ENST00000594374.1_Intron			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q			18		Prostate(69;0.0199)			CTGGGAGTCCGCCAGGCCGTA	0.721000																								0							SO:0001819	synonymous_variant			ENST00000602269.1	0	1	hg19	CCDS33040.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	0	0	0	5	400	0	75	0	2.431941e-03	0	5	0	75	2		0	0	0	0	0	2	1	9.358512e-01	5	395	0	73	2		0	0	0	0	75	2	-2.951012	1	1	0	0		1	2	2	4	2.278325	1	0.580000	1.890000	0.619703	0.050000	0	1.000000	0.050000	0.187137	0.050000	0	0.020000	0.110000
BCAM	4059	broad.mit.edu	37	19	45316707	45316707	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:45316707C>A	ENST00000270233.6	+	6	636	c.614C>A	c.(613-615)aCc>aAc	p.T205N	BCAM_ENST00000589651.1_Missense_Mutation_p.T205N	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)			22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)			GGCTACATGACCAGCCGCACG	0.711000																								0							SO:0001583	missense			ENST00000270233.6	1	1	hg19	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	9.602	1.128897	0.21041	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.78126	-1.15;-1.15	4.15	2.85	0.33270	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76421	0.3985	M	0.74258	2.255	0.20196	N	0.999921	P	0.42556	0.783	B	0.44133	0.442	T	0.64989	-0.6277	9	0.27785	T	0.31	-14.6738	7.5419	0.27744	0.0:0.8263:0.0:0.1737	.	205	P50895	BCAM_HUMAN	N	205	ENSP00000270233:T205N;ENSP00000375817:T205N	ENSP00000270233:T205N	T	+	2	0	BCAM	50008547	0.118000	0.22208	0.873000	0.34254	0.413000	0.31143	0.707000	0.25704	2.026000	0.59711	0.462000	0.41574	ACC		TCGA-IB-A6UF-01A-23D-A33T-08	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	0	0	1	105	286	0	71	1	1	33	198	0	71	2		0	0	0	0	0	2	1	1	104	283	0	70	2		0	0	0	0	71	2	-20.000000	1	1	0	0		1	2	2	4	2.278325	1	0.580000	1.890000	0.619703	0.990000	8.600000e-01	1.000000	1.000000	0.980470	0.990000	1	0.940000	1.000000
FTL	2512	broad.mit.edu	37	19	49468811	49468811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:49468811C>T	ENST00000331825.6	+	1	254	c.47C>T	c.(46-48)gCc>gTc	p.A16V	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide			9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		Iron Dextran(DB00893)	GTGGAGGCAGCCGTCAACAGC	0.567000																								0							SO:0001583	missense			ENST00000331825.6	0	1	hg19	CCDS33070.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979521	0.74360	.	.	ENSG00000087086	ENST00000331825;ENST00000397259	T	0.66638	-0.22	5.14	1.49	0.22878	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.309717	0.34025	N	0.004328	T	0.68723	0.3032	M	0.88310	2.945	0.27691	N	0.946119	B;B	0.31730	0.236;0.337	B;B	0.32980	0.087;0.156	T	0.67309	-0.5703	10	0.72032	D	0.01	.	9.6464	0.39870	0.1386:0.5426:0.3188:0.0	.	16;16	P02792;F5H1X1	FRIL_HUMAN;.	V	16	ENSP00000366525:A16V	ENSP00000366525:A16V	A	+	2	0	FTL	54160623	0.985000	0.35326	1.000000	0.80357	0.998000	0.95712	1.633000	0.37113	0.787000	0.33731	0.655000	0.94253	GCC		TCGA-IB-A6UF-01A-23D-A33T-08	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466233.1	0	0	0	5	488	1	85	0	1.181639e-02	9	6999	1	85	185		0	0	0	0	0	2	0	2.690923e-03	5	482	1	84	19		0	0	0	1	85	2	-2.760313	1	1	0	0		1	2	2	4	2.313384	1	0.580000	1.890000	0.625602	0.040000	0	1.000000	0.050000	0.196499	0.040000	0	0.020000	0.120000
C3	718	broad.mit.edu	37	19	6678284	6678284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:6678284G>A	ENST00000245907.6	-	40	4821	c.4729C>T	c.(4729-4731)Cag>Tag	p.Q1577*	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3			72				Intravenous Immunoglobulin(DB00028)	TGTCCAACCTGCACCTCATCC	0.607000																								0							SO:0001587	stop_gained			ENST00000245907.6	0	1	hg19	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	42	9.718089	0.99247	.	.	ENSG00000125730	ENST00000245907	.	.	.	5.24	5.24	0.73138	.	2.360010	0.02152	U	0.058110	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	12.1339	0.53959	0.0:0.1729:0.8271:0.0	.	.	.	.	X	1577	.	ENSP00000245907:Q1577X	Q	-	1	0	C3	6629284	0.738000	0.28186	0.992000	0.48379	0.134000	0.20937	1.336000	0.33850	2.463000	0.83235	0.454000	0.30748	CAG		TCGA-IB-A6UF-01A-23D-A33T-08	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	0	0	0	5	211	0	55	1	1	4	6101	0	55	2		0	0	0	0	0	2	0	9.292954e-01	0	205	0	54	2		0	0	0	0	55	2	-6.691296	1	0	0	0		1	0	1	1	1.628610	1	0.580000	1.890000	0.420290	0.050000	1.000000e-02	0.130000	0.060000	0.068318	0.050000	0	0.030000	0.090000
RSBN1	54665	broad.mit.edu	37	1	114308998	114308998	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:114308998G>A	ENST00000261441.5	-	7	2076	c.2013C>T	c.(2011-2013)tgC>tgT	p.C671C	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1			29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)			TATCATTGTCGCAAAGCTGAA	0.418000																								0							SO:0001819	synonymous_variant			ENST00000261441.5	0	1	hg19	CCDS862.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	0	0	0	6	531	0	87	0	2.733183e-02	0	19	0	87	2		0	0	0	0	0	2	1	9.645367e-01	6	528	0	85	2		0	0	0	0	87	2	-2.488091	0	1	121412	1	25	1	2	2	4	2.170352	0	0.580000	1.890000	0.600836	0.040000	0	1.000000	0.040000	0.116159	0.040000	0	0.020000	0.070000
COPA	1314	broad.mit.edu	37	1	160302256	160302256	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:160302256G>A	ENST00000241704.7	-	6	707	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	COPA_ENST00000368069.3_Missense_Mutation_p.R160C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha			46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		TCCCAAACGCGCACAGTCTGG	0.483000																								0							SO:0001583	missense			ENST00000241704.7	0	1	hg19	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326408	0.81690	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.68025	-0.3;-0.3	5.05	4.13	0.48395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.053904	0.64402	N	0.000001	T	0.79621	0.4477	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84076	0.0382	10	0.87932	D	0	-11.1798	12.468	0.55771	0.0814:0.0:0.9186:0.0	.	160;160	P53621;P53621-2	COPA_HUMAN;.	C	160	ENSP00000357048:R160C;ENSP00000241704:R160C	ENSP00000241704:R160C	R	-	1	0	COPA	158568880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.381000	0.97205	1.351000	0.45789	0.561000	0.74099	CGC		TCGA-IB-A6UF-01A-23D-A33T-08	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	0	0	0	6	506	0	63	0	6.921644e-01	0	192	0	63	2		0	0	0	0	0	2	1	9.645216e-01	6	503	0	63	2		0	0	0	0	63	2	-3.010007	1	1	0	0		1	1	2	3	2.671010	1	0.580000	1.890000	0.674419	0.050000	0	0.110000	0.060000	0.060039	0.050000	0	0.020000	0.080000
TOMM40L	84134	broad.mit.edu	37	1	161197719	161197719	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:161197719C>T	ENST00000367988.3	+	6	693	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000367987.1_Missense_Mutation_p.R142W|NR1I3_ENST00000479324.1_5'Flank|TOMM40L_ENST00000545897.1_Missense_Mutation_p.R108W|MIR5187_ENST00000583479.1_RNA	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like			10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		TGGCGAGTATCGGGGAGATGA	0.517000											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000367988.3	1	1	hg19	CCDS1227.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552943	0.65425	.	.	ENSG00000158882	ENST00000367988;ENST00000545897;ENST00000542686;ENST00000367987	T;T;T	0.46819	0.86;0.86;0.86	5.91	4.99	0.66335	.	0.053759	0.64402	D	0.000001	T	0.34716	0.0907	M	0.74881	2.28	0.47214	D	0.999355	P;P;P	0.43431	0.807;0.807;0.807	B;B;B	0.40506	0.331;0.331;0.331	T	0.41716	-0.9493	9	0.42905	T	0.14	-26.3182	11.9964	0.53206	0.3146:0.6854:0.0:0.0	.	108;24;142	B7Z4U0;Q9H9G4;Q969M1	.;.;TM40L_HUMAN	W	142;108;89;142	ENSP00000356967:R142W;ENSP00000443233:R108W;ENSP00000356966:R142W	ENSP00000356966:R142W	R	+	1	2	TOMM40L	159464343	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.184000	0.42575	1.475000	0.48197	0.655000	0.94253	CGG		TCGA-IB-A6UF-01A-23D-A33T-08	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	1	0	1	51	273	0	30	1	8.434478e-01	5	15	0	30	2		0	0	0	0	0	2	1	1	51	272	0	30	2		0	0	0	0	30	2	-3.234208	1	1	0	0		1	1	2	3	2.671010	1	0.580000	1.890000	0.674419	0.690000	5.300000e-01	0.880000	0.690000	0.708444	0.690000	0	0.610000	0.800000
RGS2	5997	broad.mit.edu	37	1	192779364	192779364	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:192779364C>T	ENST00000235382.5	+	2	210	c.179C>T	c.(178-180)aCc>aTc	p.T60I	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2			5					AAGCCCAAAACCGGCAAAAAA	0.358000													Pancreas(71;51 2183 4981)											0							SO:0001583	missense			ENST00000235382.5	1	1	hg19	CCDS1377.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596210	0.28445	.	.	ENSG00000116741	ENST00000235382	T	0.70749	-0.51	5.9	4.97	0.65823	.	0.873372	0.10199	N	0.703678	T	0.53932	0.1827	N	0.14661	0.345	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.43410	-0.9393	10	0.41790	T	0.15	.	8.6472	0.34013	0.1532:0.7709:0.0:0.0759	.	60	P41220	RGS2_HUMAN	I	60	ENSP00000235382:T60I	ENSP00000235382:T60I	T	+	2	0	RGS2	191045987	0.003000	0.15002	0.641000	0.29422	0.958000	0.62258	0.491000	0.22419	1.469000	0.48083	0.655000	0.94253	ACC		TCGA-IB-A6UF-01A-23D-A33T-08	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	1	0	1	92	385	0	77	1	1	13	123	0	77	2		0	0	0	0	0	2	1	1	90	381	0	77	2		0	0	0	0	77	2	-20.000000	1	1	0	0		1	1	2	3	2.671010	1	0.580000	1.890000	0.674419	0.850000	7.000000e-01	1.000000	1.000000	0.860980	0.850000	1	0.770000	0.940000
LGR6	59352	broad.mit.edu	37	1	202287853	202287853	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:202287853G>A	ENST00000367278.3	+	18	2511	c.2422G>A	c.(2422-2424)Gtc>Atc	p.V808I	LGR6_ENST00000255432.7_Missense_Mutation_p.V756I|LGR6_ENST00000439764.2_Missense_Mutation_p.V669I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6			36					GCCCGAGGCCGTCAAGTCTGT	0.647000																								0							SO:0001583	missense			ENST00000367278.3	0	1	hg19	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	2.892	-0.229549	0.06022	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.37058	1.22;1.22;1.22	4.6	1.6	0.23607	.	0.252924	0.32852	N	0.005573	T	0.12689	0.0308	N	0.04959	-0.14	0.22081	N	0.999379	B;B;B	0.25609	0.13;0.021;0.014	B;B;B	0.18561	0.022;0.004;0.007	T	0.19095	-1.0316	10	0.15952	T	0.53	.	3.813	0.08804	0.4036:0.1804:0.4161:0.0	.	669;756;808	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	I	808;756;669	ENSP00000356247:V808I;ENSP00000255432:V756I;ENSP00000387869:V669I	ENSP00000255432:V756I	V	+	1	0	LGR6	200554476	0.967000	0.33354	0.995000	0.50966	0.988000	0.76386	1.184000	0.32053	0.260000	0.21731	0.485000	0.47835	GTC		TCGA-IB-A6UF-01A-23D-A33T-08	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	0	0	0	6	944	0	97	0	4.494163e-03	0	13	0	97	2		0	0	0	0	0	2	1	9.633681e-01	7	929	0	96	2		0	0	0	0	97	2	-2.111528	0	1	121412	1	39	1	1	3	4	2.724539	1	0.580000	1.890000	0.681577	0.030000	0	1.000000	0.030000	0.265663	0.030000	0	0.010000	1.000000
ELK4	2005	broad.mit.edu	37	1	205589560	205589560	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:205589560G>A	ENST00000357992.4	-	3	953	c.614C>T	c.(613-615)gCt>gTt	p.A205V	ELK4_ENST00000289703.4_Missense_Mutation_p.A205V|ELK4_ENST00000468523.1_5'Flank	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)		SLC45A3/ELK4(18)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)		AATGGTGGCAGCAACAGGTTC	0.478000			T	SLC45A3	prostate										Dom	yes		1	1q32	2005	ELK4, ETS-domain protein (SRF accessory protein 1)		E	0							SO:0001583	missense			ENST00000357992.4	0	1	hg19	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.038791	0.00402	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.29655	1.77;1.56	5.8	3.91	0.45181	.	0.648183	0.17214	N	0.182595	T	0.14700	0.0355	N	0.08118	0	0.09310	N	1	B;B	0.22683	0.073;0.006	B;B	0.21708	0.036;0.01	T	0.31223	-0.9951	10	0.10377	T	0.69	.	10.5205	0.44916	0.1355:0.1148:0.7496:0.0	.	205;205	P28324-2;P28324	.;ELK4_HUMAN	V	295;205;205	ENSP00000350681:A205V;ENSP00000289703:A205V	ENSP00000289703:A205V	A	-	2	0	ELK4	203856183	0.127000	0.22367	0.001000	0.08648	0.182000	0.23217	1.974000	0.40559	0.372000	0.24591	-0.813000	0.03139	GCT		TCGA-IB-A6UF-01A-23D-A33T-08	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	0	0	0	5	566	0	89	0	2.458778e-02	0	22	0	89	2		0	0	0	0	0	2	1	9.360415e-01	5	560	0	89	2		0	0	0	0	89	2	-2.743540	1	1	0	0		1	1	3	4	2.724539	1	0.580000	1.890000	0.681577	0.040000	0	1.000000	0.030000	0.275181	0.040000	0	0.020000	1.000000
CTSE	1510	broad.mit.edu	37	1	206331027	206331027	+	Missense_Mutation	SNP	G	G	A	rs145069780	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:206331027G>A	ENST00000358184.2	+	9	1151	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	CTSE_ENST00000360218.2_Silent_p.S297S|CTSE_ENST00000432969.2_Silent_p.S222S|CTSE_ENST00000361052.3_Missense_Mutation_p.V350M	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E			16			BRCA - Breast invasive adenocarcinoma(75;0.0754)		ACAGGACTTCGTGGATGGAAT	0.552000																								0							SO:0001583	missense			ENST00000358184.2	1	1	hg19	CCDS1462.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	9.329	1.060007	0.19987	2.27E-4	0.002558	ENSG00000196188	ENST00000358184;ENST00000361052	T;T	0.57752	0.38;0.38	4.98	4.05	0.47172	.	0.566694	0.16139	N	0.227824	T	0.33585	0.0868	N	0.25380	0.74	0.19775	N	0.99996	B	0.27498	0.18	B	0.19148	0.024	T	0.23476	-1.0187	10	0.62326	D	0.03	.	3.6214	0.08097	0.2362:0.0:0.5746:0.1892	.	345	P14091-1	.	M	345;350	ENSP00000350911:V345M;ENSP00000354337:V350M	ENSP00000350911:V345M	V	+	1	0	CTSE	204497650	0.000000	0.05858	0.282000	0.24776	0.431000	0.31685	0.742000	0.26216	1.421000	0.47157	0.551000	0.68910	GTG		TCGA-IB-A6UF-01A-23D-A33T-08	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	1	0	1	304	976	0	184	1	1	172	386	0	184	2		0	0	0	0	0	2	1	1	301	969	0	183	2		0	0	0	0	184	2	-2.690609	1	1	121410	165	59	1	1	3	4	2.724539	1	0.580000	1.890000	0.681577	0.990000	9.700000e-01	1.000000	1.000000	0.998779	0.990000	1	0.990000	1.000000
FAM71A	149647	broad.mit.edu	37	1	212798637	212798637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:212798637C>T	ENST00000294829.3	+	1	849	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A			36					ACAACAGCTGCGCCTGAAGTT	0.483000																								0							SO:0001583	missense			ENST00000294829.3	1	1	hg19	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645226	0.67358	.	.	ENSG00000162771	ENST00000294829	T	0.19250	2.16	4.29	4.29	0.51040	.	0.312745	0.22908	N	0.054176	T	0.45236	0.1332	M	0.74546	2.27	0.47698	D	0.999498	D	0.89917	1.0	D	0.83275	0.996	T	0.43589	-0.9382	10	0.72032	D	0.01	-20.9761	12.4812	0.55844	0.0:1.0:0.0:0.0	.	140	Q8IYT1	FA71A_HUMAN	C	140	ENSP00000294829:R140C	ENSP00000294829:R140C	R	+	1	0	FAM71A	210865260	0.385000	0.25172	1.000000	0.80357	0.701000	0.40568	0.230000	0.17852	2.405000	0.81733	0.557000	0.71058	CGC		TCGA-IB-A6UF-01A-23D-A33T-08	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	1	0	0	396	453	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	1	394	450	0	109	2		0	0	0	0	109	2	-20.000000	1	1	0	0		1	1	2	3	2.682530	1	0.580000	1.890000	0.674419	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
MTR	4548	broad.mit.edu	37	1	237057764	237057764	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:237057764C>A	ENST00000366577.5	+	30	3706	c.3312C>A	c.(3310-3312)tgC>tgA	p.C1104*	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Nonsense_Mutation_p.C1053*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase			67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CCGTTGCCTGCTTTGGGGTAG	0.582000																								0							SO:0001587	stop_gained			ENST00000366577.5	0	1	hg19	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	C	39	7.595927	0.98381	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	.	.	.	5.57	4.66	0.58398	.	0.270973	0.36591	N	0.002508	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-15.4112	10.8432	0.46728	0.0:0.8558:0.0:0.1442	.	.	.	.	X	958;1104;1053;658	.	ENSP00000355535:C658X	C	+	3	2	MTR	235124387	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.490000	0.22403	1.495000	0.48549	0.655000	0.94253	TGC		TCGA-IB-A6UF-01A-23D-A33T-08	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	0	0	0	5	574	0	89	0	1.308971e-02	0	16	0	89	2		0	0	0	0	0	2	1	9.360644e-01	7	567	0	89	2		0	0	0	0	89	2	-4.291930	1	1	0	0		1	1	2	3	2.682530	1	0.580000	1.890000	0.674419	0.030000	0	0.090000	0.030000	0.044665	0.030000	0	0.010000	0.070000
ERMAP	114625	broad.mit.edu	37	1	43296629	43296629	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:43296629G>A	ENST00000372517.2	+	4	520	c.276G>A	c.(274-276)ccG>ccA	p.P92P	ERMAP_ENST00000328249.3_Silent_p.P2P|ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372514.3_Silent_p.P92P	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)			11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			ATCTGATGCCGGAATATAAGG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000372517.2	0	1	hg19	CCDS475.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	0	0	0	4	254	0	42	0	6.161030e-02	0	20	0	42	2		0	0	0	0	0	2	1	8.892517e-01	4	252	0	41	2		0	0	0	0	42	2	-3.019038	1	1	121412	2	31	1	2	2	4	2.170352	0	0.580000	1.890000	0.600836	0.060000	1.000000e-02	1.000000	0.060000	0.137153	0.060000	0	0.030000	0.110000
PTPRF	5792	broad.mit.edu	37	1	44054537	44054537	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:44054537T>C	ENST00000359947.4	+	8	1155	c.815T>C	c.(814-816)cTc>cCc	p.L272P	PTPRF_ENST00000438120.1_Missense_Mutation_p.L272P|PTPRF_ENST00000372414.3_Missense_Mutation_p.L272P|PTPRF_ENST00000372413.3_Missense_Mutation_p.L272P|PTPRF_ENST00000422171.2_5'Flank	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F			72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			GCCGAGGAGCTCACCAAGGAG	0.622000																								0							SO:0001583	missense			ENST00000359947.4	1	1	hg19	CCDS489.2	.	.	.	.	.	.	.	.	.	.	T	21.6	4.180087	0.78564	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.30999	N	0.008451	D	0.86863	0.6035	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	D	0.87323	0.2319	10	0.33141	T	0.24	.	16.1281	0.81408	0.0:0.0:0.0:1.0	.	272;272	P10586-2;P10586	.;PTPRF_HUMAN	P	272	ENSP00000353030:L272P;ENSP00000398822:L272P;ENSP00000361491:L272P;ENSP00000361490:L272P	ENSP00000353030:L272P	L	+	2	0	PTPRF	43827124	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	8.036000	0.88901	2.268000	0.75426	0.533000	0.62120	CTC		TCGA-IB-A6UF-01A-23D-A33T-08	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1	1	0	1	68	140	0	30	1	1	45	95	0	30	2		0	0	0	0	0	2	1	1	68	136	0	30	2		0	0	0	0	30	2	-20.000000	1	1	0	0		1	2	2	4	2.170352	0	0.580000	1.890000	0.600836	0.990000	9.600000e-01	1.000000	1.000000	0.997855	0.990000	1	0.990000	1.000000
ZFP64	55734	broad.mit.edu	37	20	50769918	50769918	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr20:50769918G>A	ENST00000216923.4	-	6	1162	c.813C>T	c.(811-813)agC>agT	p.S271S	ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Silent_p.S217S|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.S269S|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein			33					TCAAGTCCGAGCTGATTTTGA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000216923.4	1	1	hg19	CCDS13440.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	1	0	1	81	265	0	41	0	8.951666e-01	0	15	0	41	2		0	0	0	0	0	2	1	1	79	262	0	40	2		0	0	0	0	41	2	-20.000000	1	1	121412	1	26	1	1	2	3	2.663319	1	0.580000	1.890000	0.674419	0.990000	8.400000e-01	1.000000	1.000000	0.978973	0.990000	1	0.930000	1.000000
FERMT1	55612	broad.mit.edu	37	20	6090996	6090996	+	Missense_Mutation	SNP	G	G	A	rs147864238		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr20:6090996G>A	ENST00000217289.4	-	5	1483	c.695C>T	c.(694-696)gCg>gTg	p.A232V	FERMT1_ENST00000536936.1_Intron	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1			17					GTACATATCCGCAAGTGCTTC	0.532000																								0							SO:0001583	missense			ENST00000217289.4	0	1	hg19	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169656	0.57584	0.0	1.16E-4	ENSG00000101311	ENST00000217289;ENST00000339538	T	0.48201	0.82	5.81	4.85	0.62838	FERM, N-terminal (1);Band 4.1 domain (1);	0.047428	0.85682	D	0.000000	T	0.50837	0.1639	M	0.66506	2.035	0.80722	D	1	B;B	0.33044	0.326;0.395	B;B	0.35312	0.078;0.2	T	0.53450	-0.8437	10	0.49607	T	0.09	-4.3671	16.8229	0.85923	0.0:0.1287:0.8713:0.0	.	232;232	Q9BQL6-4;Q9BQL6	.;FERM1_HUMAN	V	232	ENSP00000217289:A232V	ENSP00000217289:A232V	A	-	2	0	FERMT1	6038996	1.000000	0.71417	0.595000	0.28798	0.348000	0.29142	6.593000	0.74100	1.427000	0.47276	0.655000	0.94253	GCG		TCGA-IB-A6UF-01A-23D-A33T-08	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	0	0	0	4	221	0	57	0	1.478176e-01	0	30	0	57	2		0	0	0	0	0	2	1	8.890485e-01	4	219	0	56	2		0	0	0	0	57	2	-2.969779	1	1	121412	32	51	1	0	1	1	1.529228	1	0.580000	1.890000	0.408451	0.040000	1.000000e-02	0.100000	0.040000	0.053567	0.040000	0	0.020000	0.080000
PAK7	57144	broad.mit.edu	37	20	9546990	9546990	+	Silent	SNP	C	C	G			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr20:9546990C>G	ENST00000378429.3	-	6	1578	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	PAK7_ENST00000353224.5_Silent_p.L344L|PAK7_ENST00000378423.1_Silent_p.L344L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7			81			COAD - Colon adenocarcinoma(9;0.194)		CAGACCCTGACAGTGGAGGGC	0.537000																								0							SO:0001819	synonymous_variant			ENST00000378429.3	1	1	hg19	CCDS13107.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1	1	0	1	185	295	0	137	0	0	0	1	0	137	2		0	0	0	0	0	2	1	1	183	292	0	137	2		0	0	0	0	137	2	-20.000000	1	1	0	0		1	0	1	1	1.529228	1	0.580000	1.890000	0.408451	0.920000	8.200000e-01	1.000000	0.940000	0.928633	0.920000	1	0.870000	0.980000
TIAM1	7074	broad.mit.edu	37	21	32513695	32513695	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr21:32513695C>A	ENST00000286827.3	-	22	4074	c.3603G>T	c.(3601-3603)agG>agT	p.R1201S	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1141S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1			115					CGAACAGCTCCCTGAGCAGAA	0.622000																								0							SO:0001583	missense			ENST00000286827.3	1	1	hg19	CCDS13609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.53|16.53	3.149449|3.149449	0.57151|0.57151	.|.	.|.	ENSG00000156299|ENSG00000156299	ENST00000399841|ENST00000286827;ENST00000541036	.|T;T	.|0.68181	.|-0.31;-0.31	5.54|5.54	4.6|4.6	0.57074|0.57074	.|Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	.|0.286916	.|0.38663	.|N	.|0.001620	.|T	.|0.49779	.|0.1577	L|L	0.28740|0.28740	0.885|0.885	0.45580|0.45580	D|D	0.998526|0.998526	.|P;P;B	.|0.38195	.|0.568;0.622;0.393	.|B;B;B	.|0.35770	.|0.133;0.21;0.137	.|T	.|0.53641	.|-0.8410	.|10	0.87932|0.54805	D|T	0|0.06	.|.	6.7797|6.7797	0.23638|0.23638	0.0:0.7003:0.1511:0.1486|0.0:0.7003:0.1511:0.1486	.|.	.|1141;1141;1201	.|F5GZ53;B7ZLR6;Q13009	.|.;.;TIAM1_HUMAN	X|S	1041|1201;1141	.|ENSP00000286827:R1201S;ENSP00000441570:R1141S	ENSP00000382735:G1041X|ENSP00000286827:R1201S	G|R	-|-	1|3	0|2	TIAM1|TIAM1	31435566|31435566	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.903000|0.903000	0.53119|0.53119	1.201000|1.201000	0.32259|0.32259	2.590000|2.590000	0.87494|0.87494	0.563000|0.563000	0.77884|0.77884	GGA|AGG		TCGA-IB-A6UF-01A-23D-A33T-08	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	1	0	1	179	265	0	120	0	6.680394e-01	0	5	0	120	2		0	0	0	0	0	2	1	1	177	261	0	120	2		0	0	0	0	120	2	-20.000000	1	1	0	0		1	0	1	1	1.500265	1	0.580000	1.890000	0.408451	0.950000	8.500000e-01	1.000000	0.980000	0.951173	0.950000	1	0.900000	0.990000
PIWIL3	440822	broad.mit.edu	37	22	25124284	25124284	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr22:25124284G>A	ENST00000332271.5	-	15	2208	c.1792C>T	c.(1792-1794)Cta>Tta	p.L598L	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Silent_p.L480L|PIWIL3_ENST00000533313.1_Silent_p.L480L	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3			50					TTGGTACATAGGTATCTTTTT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000332271.5	1	1	hg19	CCDS33623.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	0	0	1	193	289	0	132		0	0	0	0	132	2		0	0	0	0	0	2	1	1	192	288	0	131	2		0	0	0	0	132	2	-20.000000	1	1	0	0		1	0	1	1	1.577093	1	0.580000	1.890000	0.410857	0.950000	8.600000e-01	1.000000	1.000000	0.955915	0.950000	1	0.910000	1.000000
TBC1D22A	25771	broad.mit.edu	37	22	47189570	47189570	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr22:47189570G>A	ENST00000337137.4	+	3	458	c.292G>A	c.(292-294)Gcc>Acc	p.A98T	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.A51T|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.A79T|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.A98T|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.A51T	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A			22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)			CATGGAGACGGCCAACCGTGT	0.687000																								0							SO:0001583	missense			ENST00000337137.4	0	1	hg19	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260204	0.95368	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.52295	1.71;0.67;1.27;0.99;1.71	4.8	4.8	0.61643	.	0.053327	0.85682	D	0.000000	T	0.68787	0.3039	M	0.79475	2.455	0.80722	D	1	P;D;D;P	0.76494	0.87;0.998;0.999;0.87	P;D;D;P	0.70935	0.542;0.969;0.971;0.542	T	0.71813	-0.4479	10	0.52906	T	0.07	-6.3978	16.6066	0.84831	0.0:0.0:1.0:0.0	.	98;79;98;98	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	T	98;51;98;79;51	ENSP00000336724:A98T;ENSP00000370383:A51T;ENSP00000384036:A98T;ENSP00000347932:A79T;ENSP00000385634:A51T	ENSP00000336724:A98T	A	+	1	0	TBC1D22A	45568234	1.000000	0.71417	0.734000	0.30879	0.788000	0.44548	8.819000	0.91997	2.484000	0.83849	0.609000	0.83330	GCC		TCGA-IB-A6UF-01A-23D-A33T-08	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	0	0	0	5	216	0	42	0	3.788982e-01	0	50	0	42	2		0	0	0	0	0	2	1	9.328330e-01	5	209	0	42	2		0	0	0	0	42	2	-6.203835	1	1	0	0		1	0	1	1	1.577093	1	0.580000	1.890000	0.410857	0.050000	1.000000e-02	0.120000	0.060000	0.065718	0.050000	0	0.030000	0.090000
LYPD6B	130576	broad.mit.edu	37	2	150071135	150071135	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:150071135G>A	ENST00000409029.1	+	7	665	c.463G>A	c.(463-465)Gta>Ata	p.V155I	LYPD6B_ENST00000409876.1_Missense_Mutation_p.V155I|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Missense_Mutation_p.V179I|LYPD6B_ENST00000409642.3_Missense_Mutation_p.V179I			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B			11					AGTGTTTGCCGTAATGCACGC	0.483000																								0							SO:0001583	missense			ENST00000409029.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.06	1.245572	0.22796	0.0	1.19E-4	ENSG00000150556	ENST00000409642;ENST00000409876;ENST00000409029;ENST00000280115	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.78	0.937	0.19494	.	0.357652	0.26983	N	0.021502	T	0.11922	0.0290	L	0.35723	1.085	0.09310	N	1	B;B	0.21821	0.035;0.061	B;B	0.16722	0.01;0.016	T	0.28586	-1.0039	9	.	.	.	-22.7644	10.208	0.43124	0.3397:0.0:0.6603:0.0	.	155;179	Q8NI32;Q8NI32-2	LPD6B_HUMAN;.	I	179;155;155;179	ENSP00000387077:V179I;ENSP00000386479:V155I;ENSP00000386650:V155I;ENSP00000280115:V179I	.	V	+	1	0	LYPD6B	149779381	0.832000	0.29368	0.002000	0.10522	0.186000	0.23388	1.506000	0.35747	0.113000	0.18004	-1.871000	0.00553	GTA		TCGA-IB-A6UF-01A-23D-A33T-08	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	0	0	0	6	727	0	150	0	4.984479e-02	0	35	0	150	2		0	0	0	0	0	2	1	9.633900e-01	5	717	0	150	2		0	0	0	0	150	2	-1.957102	0	1	121004	11	45	1	0	0	0	2.040573	0	0.580000	1.890000	0.575071	0.020000	0	0.060000	0.030000	0.031568	0.020000	0	0.010000	0.050000
LRP2	4036	broad.mit.edu	37	2	170044768	170044768	+	Missense_Mutation	SNP	G	G	A	rs142093111	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:170044768G>A	ENST00000263816.3	-	49	9325	c.9040C>T	c.(9040-9042)Cgg>Tgg	p.R3014W		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2			315				"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TCATTGTGCCGGTCACACCTG	0.468000																								0							SO:0001583	missense			ENST00000263816.3	0	1	hg19	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004957	0.35415	0.0	3.49E-4	ENSG00000081479	ENST00000263816	D	0.95588	-3.75	5.68	-1.28	0.09318	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.158354	0.53938	N	0.000058	D	0.91331	0.7266	M	0.74881	2.28	0.80722	D	1	P	0.35307	0.494	B	0.27608	0.081	T	0.83269	-0.0044	10	0.44086	T	0.13	.	5.5847	0.17267	0.2891:0.0:0.3935:0.3174	.	3014	P98164	LRP2_HUMAN	W	3014	ENSP00000263816:R3014W	ENSP00000263816:R3014W	R	-	1	2	LRP2	169753014	1.000000	0.71417	0.145000	0.22337	0.574000	0.36063	1.361000	0.34136	-0.131000	0.11578	0.650000	0.86243	CGG		TCGA-IB-A6UF-01A-23D-A33T-08	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	0	0	0	5	343	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	9.370272e-01	5	341	0	61	2		0	0	0	0	61	2	-2.497065	0	1	121412	21	45	1	0	0	0	2.040573	0	0.580000	1.890000	0.575071	0.050000	1.000000e-02	0.110000	0.050000	0.058259	0.050000	0	0.020000	0.080000
HOXD10	3236	broad.mit.edu	37	2	176981813	176981813	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:176981813G>A	ENST00000249501.4	+	1	507	c.252G>A	c.(250-252)ccG>ccA	p.P84P	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10			17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)		GGACAGATCCGAACAGATCTT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000249501.4	1	1	hg19	CCDS2266.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2	1	0	1	89	299	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1	87	295	0	80	2		0	0	0	0	80	2	-4.225160	1	1	0	0		1	0	0	0	2.040573	0	0.580000	1.890000	0.575071	0.770000	6.400000e-01	0.920000	0.780000	0.784971	0.770000	0	0.700000	0.860000
CXCR2	3579	broad.mit.edu	37	2	219000390	219000390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:219000390G>A	ENST00000318507.2	+	3	1293	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2			22					TGTGAGCGCCGCAATCACATC	0.597000																								0							SO:0001583	missense			ENST00000318507.2	0	1	hg19	CCDS2408.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.03	2.114961	0.37339	.	.	ENSG00000180871	ENST00000318507	T	0.37411	1.2	5.36	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.057955	0.64402	D	0.000006	T	0.48502	0.1503	M	0.70108	2.13	0.09310	N	0.999998	P	0.38767	0.646	P	0.50231	0.635	T	0.40440	-0.9563	9	.	.	.	.	9.7981	0.40748	0.1635:0.0:0.8365:0.0	.	289	P25025	CXCR2_HUMAN	H	289	ENSP00000319635:R289H	.	R	+	2	0	CXCR2	218708635	0.930000	0.31532	0.358000	0.25811	0.045000	0.14185	3.615000	0.54167	1.243000	0.43853	0.456000	0.33151	CGC		TCGA-IB-A6UF-01A-23D-A33T-08	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	0	0	0	5	551	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	9.360015e-01	5	545	0	91	2		0	0	0	0	92	2	-2.383918	0	1	121412	6	40	1	0	0	0	2.040573	0	0.580000	1.890000	0.575071	0.020000	0	0.070000	0.040000	0.036049	0.020000	0	0.010000	0.050000
STK16	8576	broad.mit.edu	37	2	220113194	220113194	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:220113194G>A	ENST00000409638.3	+	8	1003	c.831G>A	c.(829-831)ccG>ccA	p.P277P	STK16_ENST00000409260.1_Silent_p.P322P|STK16_ENST00000396738.2_Silent_p.P277P|STK16_ENST00000409516.3_Silent_p.P159P|GLB1L_ENST00000295759.7_5'Flank|STK16_ENST00000409743.1_Silent_p.P245P|GLB1L_ENST00000392089.2_5'Flank|TUBA4A_ENST00000498660.1_5'Flank	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16			1		Renal(207;0.0474)			CCGTGGACCCGCATCAGCGTC	0.567000													Pancreas(34;887 922 17165 36961 39622)											0							SO:0001819	synonymous_variant			ENST00000409638.3	0	1	hg19	CCDS42822.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1	0	0	0	6	625	0	109	0	5.150588e-01	0	163	0	109	2		0	0	0	0	0	2	1	9.647575e-01	7	622	0	108	2		0	0	0	0	109	2	-1.930485	0	1	0	0		1	0	0	0	2.040573	0	0.580000	1.890000	0.575071	0.030000	0	0.070000	0.040000	0.037223	0.030000	0	0.010000	0.050000
SAG	6295	broad.mit.edu	37	2	234237147	234237147	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:234237147G>A	ENST00000409110.1	+	8	766	c.536G>A	c.(535-537)cGc>cAc	p.R179H	SAG_ENST00000449594.2_Missense_Mutation_p.R45H	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)			9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)			TTACTGATCCGCAAAGTACAG	0.602000																								0							SO:0001583	missense			ENST00000409110.1	0	1	hg19	CCDS46545.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.3	3.967692	0.74131	0.0	1.2E-4	ENSG00000130561	ENST00000252857;ENST00000409110;ENST00000449594	T;T	0.26660	1.72;1.72	4.18	4.18	0.49190	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58708	0.2141	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.67900	0.731;0.954	T	0.71573	-0.4552	10	0.87932	D	0	-6.7464	17.0843	0.86606	0.0:0.0:1.0:0.0	.	45;179	B7Z7L5;P10523	.;ARRS_HUMAN	H	179;179;45	ENSP00000386444:R179H;ENSP00000392889:R45H	ENSP00000252857:R179H	R	+	2	0	SAG	233901886	1.000000	0.71417	0.962000	0.40283	0.213000	0.24496	9.551000	0.98112	2.337000	0.79520	0.650000	0.86243	CGC		TCGA-IB-A6UF-01A-23D-A33T-08	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	0	0	0	6	639	0	122		0	0	0	0	122	2		0	0	0	0	0	2	1	9.642434e-01	6	634	0	122	2		0	0	0	0	122	2	-2.065670	0	1	120928	4	40	1	1	2	3	2.077192	0	0.580000	1.890000	0.581214	0.030000	0	0.070000	0.040000	0.036843	0.030000	0	0.010000	0.050000
TMEM214	54867	broad.mit.edu	37	2	27259437	27259437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:27259437C>T	ENST00000238788.9	+	6	865	c.803C>T	c.(802-804)gCc>gTc	p.A268V	TMEM214_ENST00000404032.3_Missense_Mutation_p.A223V	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214			18					GCAGGTTTTGCCAACCTCACC	0.567000																								0							SO:0001583	missense			ENST00000238788.9	0	1	hg19	CCDS42664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.596|9.596	1.127379|1.127379	0.20959|0.20959	.|.	.|.	ENSG00000119777|ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397|ENST00000425720	T;T|.	0.42131|.	0.98;0.98|.	5.55|5.55	2.24|2.24	0.28232|0.28232	.|.	0.863457|.	0.10873|.	N|.	0.624759|.	T|T	0.23846|0.23846	0.0577|0.0577	N|N	0.16478|0.16478	0.41|0.41	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.11235|.	0.004;0.001|.	B;B|.	0.12837|.	0.006;0.008|.	T|T	0.23297|0.23297	-1.0192|-1.0192	10|5	0.22706|.	T|.	0.39|.	-0.0745|-0.0745	9.7642|9.7642	0.40550|0.40550	0.0:0.7292:0.1201:0.1507|0.0:0.7292:0.1201:0.1507	.|.	223;268|.	Q6NUQ4-2;Q6NUQ4|.	.;TM214_HUMAN|.	V|S	268;223;10|27	ENSP00000238788:A268V;ENSP00000384417:A223V|.	ENSP00000238788:A268V|.	A|P	+|+	2|1	0|0	TMEM214|TMEM214	27112941|27112941	0.001000|0.001000	0.12720|0.12720	0.400000|0.400000	0.26346|0.26346	0.988000|0.988000	0.76386|0.76386	1.447000|1.447000	0.35101|0.35101	0.687000|0.687000	0.31509|0.31509	0.561000|0.561000	0.74099|0.74099	GCC|CCA		TCGA-IB-A6UF-01A-23D-A33T-08	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	0	0	0	6	719	0	151	0	4.578474e-01	0	167	0	151	2		0	0	0	0	0	2	1	9.632171e-01	6	707	0	150	2		0	0	0	0	151	2	-2.180138	0	1	0	0		1	1	2	3	2.078345	0	0.580000	1.890000	0.581214	0.020000	0	0.070000	0.030000	0.032377	0.020000	0	0.010000	0.050000
SNRNP200	23020	broad.mit.edu	37	2	96967391	96967391	+	Missense_Mutation	SNP	G	G	A	rs150957097		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:96967391G>A	ENST00000323853.5	-	4	522	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	SNRNP200_ENST00000349783.5_Missense_Mutation_p.R149W	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)			90					TCCTTGTCCCGCAGCTTTTCA	0.463000																								0							SO:0001583	missense			ENST00000323853.5	0	1	hg19	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994162	0.74703	.	.	ENSG00000144028	ENST00000323853;ENST00000349783	T;T	0.46819	0.86;0.86	5.58	5.58	0.84498	.	0.120859	0.53938	D	0.000047	T	0.59128	0.2171	M	0.62088	1.915	0.80722	D	1	D	0.69078	0.997	P	0.51657	0.676	T	0.63337	-0.6660	10	0.87932	D	0	-16.1737	18.3443	0.90315	0.0:0.0:1.0:0.0	.	149	O75643	U520_HUMAN	W	149	ENSP00000317123:R149W;ENSP00000326937:R149W	ENSP00000317123:R149W	R	-	1	2	SNRNP200	96331118	1.000000	0.71417	0.985000	0.45067	0.868000	0.49771	3.196000	0.51020	2.636000	0.89361	0.455000	0.32223	CGG		TCGA-IB-A6UF-01A-23D-A33T-08	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	0	0	0	7	670	0	114	0	1.298924e-01	0	52	0	114	2		0	0	0	0	0	2	1	9.802596e-01	7	666	0	113	2		0	0	0	0	114	2	-1.783854	0	1	121412	1	34	1	1	2	3	2.099429	0	0.580000	1.890000	0.582422	0.030000	0	0.080000	0.040000	0.050088	0.030000	0	0.010000	0.060000
OSBPL11	114885	broad.mit.edu	37	3	125298799	125298799	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:125298799G>A	ENST00000296220.5	-	3	608	c.319C>T	c.(319-321)Cag>Tag	p.Q107*		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11			27					CCTGCAAGCTGCAAAGTTCCT	0.403000																								0							SO:0001587	stop_gained			ENST00000296220.5	0	1	hg19	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	40	7.930052	0.98565	.	.	ENSG00000144909	ENST00000296220	.	.	.	5.07	5.07	0.68467	.	0.268957	0.38272	N	0.001758	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	13.9553	18.6341	0.91371	0.0:0.0:1.0:0.0	.	.	.	.	X	107	.	ENSP00000296220:Q107X	Q	-	1	0	OSBPL11	126781489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.587000	0.98229	2.628000	0.89032	0.655000	0.94253	CAG		TCGA-IB-A6UF-01A-23D-A33T-08	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	0	0	0	5	533	0	80	0	5.981737e-03	0	10	0	80	2		0	0	0	0	0	2	1	9.359506e-01	5	527	0	79	2		0	0	0	0	80	2	-2.461193	0	1	0	0		1	0	0	0	2.070095	0	0.580000	1.890000	0.580000	0.030000	0	0.070000	0.040000	0.037718	0.030000	0	0.010000	0.050000
C3orf22	152065	broad.mit.edu	37	3	126268739	126268739	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:126268739G>A	ENST00000318225.2	-	4	776	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22			7					CAGCCCTGCCGCCTTGCTGGT	0.627000																								0							SO:0001583	missense			ENST00000318225.2	1	1	hg19	CCDS3040.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228530	0.39399	0.0	1.16E-4	ENSG00000180697	ENST00000318225	.	.	.	1.92	-0.536	0.11876	.	.	.	.	.	T	0.09818	0.0241	N	0.19112	0.55	0.09310	N	1	P	0.41188	0.741	B	0.25405	0.06	T	0.22730	-1.0208	8	0.02654	T	1	6.4871	4.5161	0.11935	0.4702:0.0:0.5298:0.0	.	133	Q8N5N4	CC022_HUMAN	V	133	.	ENSP00000316644:A133V	A	-	2	0	C3orf22	127751429	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.292000	0.08332	-0.154000	0.11118	0.313000	0.20887	GCG		TCGA-IB-A6UF-01A-23D-A33T-08	C3orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370231.2	1	0	1	83	174	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1	82	174	0	43	2		0	0	0	0	43	2	-20.000000	1	1	121412	4	33	1	0	0	0	2.070095	0	0.580000	1.890000	0.580000	0.990000	9.100000e-01	1.000000	1.000000	0.994177	0.990000	1	0.990000	1.000000
MCM2	4171	broad.mit.edu	37	3	127337969	127337969	+	Missense_Mutation	SNP	G	G	A	rs147793264		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:127337969G>A	ENST00000265056.7	+	13	2357	c.2113G>A	c.(2113-2115)Gcc>Acc	p.A705T	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2			6					TGCTGAGCCCGCCATGCCCAA	0.637000																								0							SO:0001583	missense			ENST00000265056.7	0	1	hg19	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	1.635	-0.517936	0.04171	0.0	1.16E-4	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.02421	4.3	5.61	0.559	0.17272	.	1.165010	0.06316	N	0.703534	T	0.01976	0.0062	N	0.05467	-0.045	0.19300	N	0.999978	B;B;B	0.14012	0.001;0.009;0.008	B;B;B	0.16289	0.002;0.015;0.009	T	0.50065	-0.8871	10	0.15066	T	0.55	-10.4948	10.4606	0.44577	0.4466:0.0:0.5534:0.0	.	755;575;705	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	T	705;609;755	ENSP00000265056:A705T	ENSP00000265056:A705T	A	+	1	0	MCM2	128820659	0.111000	0.22076	0.014000	0.15608	0.049000	0.14656	0.425000	0.21346	-0.197000	0.10350	-0.964000	0.02622	GCC		TCGA-IB-A6UF-01A-23D-A33T-08	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1	0	0	0	4	218	0	35	0	2.259680e-01	1	39	0	35	2		0	0	0	0	0	2	1	8.788610e-01	4	207	0	33	2		0	0	0	0	35	2	-5.364141	1	0	0	0		1	0	0	0	2.070095	0	0.580000	1.890000	0.580000	0.060000	1.000000e-02	0.150000	0.060000	0.076655	0.060000	0	0.030000	0.110000
ASTE1	28990	broad.mit.edu	37	3	130744081	130744081	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:130744081G>A	ENST00000264992.3	-	3	511	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	ASTE1_ENST00000514044.1_Missense_Mutation_p.R24W|NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000507910.1_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000429253.2_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	p.R24W(1)		22					TTTGTGTCCCGCAACTTCAAA	0.403000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000264992.3	0	1	hg19	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562030	0.65538	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270;ENST00000505545;ENST00000504725	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.44	2.22	0.28083	XPG N-terminal (1);	0.048280	0.85682	D	0.000000	T	0.70202	0.3197	M	0.74881	2.28	0.42751	D	0.993773	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74682	-0.3583	10	0.87932	D	0	-23.8367	13.7698	0.63018	0.0:0.0:0.4438:0.5562	.	24;24	D6RG30;Q2TB18	.;ASTE1_HUMAN	W	24	ENSP00000426421:R24W;ENSP00000264992:R24W;ENSP00000425683:R24W;ENSP00000422851:R24W	ENSP00000264992:R24W	R	-	1	2	ASTE1	132226771	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.943000	0.40253	0.599000	0.29845	0.650000	0.86243	CGG		TCGA-IB-A6UF-01A-23D-A33T-08	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	0	0	0	6	722	0	136	0	2.115282e-03	0	7	0	136	2		0	0	0	0	0	2	1	9.643126e-01	6	717	0	136	2		0	0	0	0	136	2	-2.035640	0	1	0	0		1	0	0	0	2.070095	0	0.580000	1.890000	0.580000	0.020000	0	0.060000	0.030000	0.032122	0.020000	0	0.010000	0.050000
SCN11A	11280	broad.mit.edu	37	3	38938452	38938452	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:38938452G>A	ENST00000302328.3	-	14	2485	c.2287C>T	c.(2287-2289)Cgc>Tgc	p.R763C	SCN11A_ENST00000456224.3_Missense_Mutation_p.R763C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R763C|SCN11A_ENST00000444237.2_Missense_Mutation_p.R763C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit			119				Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGAGGATGCGGAATACCACT	0.473000																								0							SO:0001583	missense			ENST00000302328.3	1	1	hg19	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	35	5.468244	0.96274	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4	5.95	5.95	0.96441	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98760	1.0724	10	0.87932	D	0	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	763	Q9UI33	SCNBA_HUMAN	C	763	ENSP00000307599:R763C;ENSP00000400945:R763C;ENSP00000416757:R763C;ENSP00000408028:R763C	ENSP00000307599:R763C	R	-	1	0	SCN11A	38913456	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.812000	0.86109	2.827000	0.97445	0.650000	0.86243	CGC		TCGA-IB-A6UF-01A-23D-A33T-08	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	1	0	1	96	233	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1	96	229	0	70	2		0	0	0	0	70	2	-7.485149	1	1	121412	5	38	1	1	2	3	2.093118	0	0.580000	1.890000	0.582422	0.990000	8.400000e-01	1.000000	1.000000	0.972358	0.990000	1	0.920000	1.000000
CCR2	729230	broad.mit.edu	37	3	46401296	46401296	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:46401296G>A	ENST00000400888.2	+	2	1109	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	CCR2_ENST00000292301.4_Missense_Mutation_p.G357E			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2			14					CGTGGAAAAGGAAAGTCAATT	0.493000																								0							SO:0001583	missense			ENST00000400888.2	0	1	hg19	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	G	9.639	1.138456	0.21123	.	.	ENSG00000121807	ENST00000292301;ENST00000400888	T;T	0.68765	-0.35;-0.35	3.45	-1.8	0.07907	.	2.790660	0.01671	N	0.025619	T	0.43678	0.1258	N	0.08118	0	0.09310	N	1	B	0.25904	0.137	B	0.27887	0.084	T	0.19516	-1.0303	10	0.22109	T	0.4	.	4.2507	0.10693	0.3066:0.3232:0.3702:0.0	.	357	P41597	CCR2_HUMAN	E	357	ENSP00000292301:G357E;ENSP00000383681:G357E	ENSP00000292301:G357E	G	+	2	0	CCR2	46376300	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.258000	0.08733	-0.422000	0.07405	-0.156000	0.13503	GGA		TCGA-IB-A6UF-01A-23D-A33T-08	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	0	0	0	6	439	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	9.639711e-01	6	435	0	63	2		0	0	0	0	63	2	-5.505612	1	1	0	0		1	1	2	3	2.093118	0	0.580000	1.890000	0.582422	0.040000	1.000000e-02	0.110000	0.040000	0.063499	0.040000	0	0.020000	0.080000
LHFPL4	375323	broad.mit.edu	37	3	9547694	9547694	+	Silent	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:9547694C>T	ENST00000287585.6	-	3	885	c.600G>A	c.(598-600)cgG>cgA	p.R200R		NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4			10	Medulloblastoma(99;0.227)				GGTCTGTTTGCCGGTTGCCCA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000287585.6	0	1	hg19	CCDS33691.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1	0	0	0	6	748	1	108		0	0	0	1	108	2		0	0	0	0	0	2	0	1.564122e-05	6	745	2	107	31		0	0	0	1	108	2	-2.362691	0	1	0	0		1	1	2	3	2.093118	0	0.580000	1.890000	0.582422	0.020000	0	0.070000	0.020000	0.040568	0.020000	0	0.010000	0.050000
FSTL5	56884	broad.mit.edu	37	4	162841645	162841645	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:162841645A>T	ENST00000306100.5	-	4	756	c.320T>A	c.(319-321)tTc>tAc	p.F107Y	FSTL5_ENST00000379164.4_Missense_Mutation_p.F106Y|FSTL5_ENST00000536695.1_Missense_Mutation_p.F106Y|FSTL5_ENST00000427802.2_Missense_Mutation_p.F106Y	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5			91	all_hematologic(180;0.24)				GTTTTCATAGAATTCTCCGTC	0.433000																								0							SO:0001583	missense			ENST00000306100.5	1	1	hg19	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552502	0.86127	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	5.86	5.86	0.93980	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.056975	0.64402	D	0.000001	T	0.08268	0.0206	L	0.33093	0.98	0.47994	D	0.999564	D;B;D	0.53619	0.961;0.134;0.961	P;B;P	0.48770	0.589;0.017;0.589	T	0.13176	-1.0519	10	0.51188	T	0.08	.	15.7408	0.77894	1.0:0.0:0.0:0.0	.	106;106;107	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	Y	107;106;106;106	ENSP00000305334:F107Y;ENSP00000368462:F106Y;ENSP00000389270:F106Y;ENSP00000440409:F106Y	ENSP00000305334:F107Y	F	-	2	0	FSTL5	163061095	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	8.910000	0.92685	2.367000	0.80283	0.528000	0.53228	TTC		TCGA-IB-A6UF-01A-23D-A33T-08	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	1	0	1	68	175	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	1	68	173	0	25	2		0	0	0	0	25	2	-20.000000	1	1	0	0		1	1	2	3	2.083006	0	0.580000	1.890000	0.581214	0.960000	7.700000e-01	1.000000	1.000000	0.944076	0.960000	1	0.860000	1.000000
CLCN3	1182	broad.mit.edu	37	4	170618575	170618575	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:170618575G>A	ENST00000513761.1	+	9	1812	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	CLCN3_ENST00000360642.3_Missense_Mutation_p.R391H|CLCN3_ENST00000347613.4_Missense_Mutation_p.R418H|CLCN3_ENST00000504131.2_Missense_Mutation_p.R401H	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3			29		Prostate(90;0.00601)|Renal(120;0.0183)			TGTCGTCGACGCAAGTCCACG	0.438000																								0							SO:0001583	missense			ENST00000513761.1	0	1	hg19	CCDS34101.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.870874|4.870874	0.91587|0.91587	.|.	.|.	ENSG00000109572|ENSG00000109572	ENST00000515420|ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	.|D;D;D;D;D	.|0.94650	.|-3.48;-3.48;-3.48;-3.48;-3.48	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Chloride channel, core (2);	.|0.046411	.|0.85682	.|D	.|0.000000	D|D	0.98425|0.98425	0.9476|0.9476	H|H	0.96777|0.96777	3.88|3.88	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.999;1.0;0.999;0.999;1.0	.|D;D;D;D;D	.|0.77557	.|0.984;0.99;0.984;0.984;0.972	D|D	0.99023|0.99023	1.0818|1.0818	5|10	.|0.87932	.|D	.|0	-4.8294|-4.8294	20.1392|20.1392	0.98050|0.98050	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|391;401;391;418;418	.|B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.|.;.;.;CLCN3_HUMAN;.	T|H	73|418;418;391;401;391	.|ENSP00000424603:R418H;ENSP00000261514:R418H;ENSP00000353857:R391H;ENSP00000424540:R401H;ENSP00000425323:R391H	.|ENSP00000261514:R418H	A|R	+|+	1|2	0|0	CLCN3|CLCN3	170855150|170855150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.968000|7.968000	0.87980|0.87980	2.765000|2.765000	0.95021|0.95021	0.557000|0.557000	0.71058|0.71058	GCA|CGC		TCGA-IB-A6UF-01A-23D-A33T-08	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2	0	0	0	6	617	0	117	0	8.874039e-02	0	43	0	117	2		0	0	0	0	0	2	1	9.638607e-01	5	611	0	115	2		0	0	0	0	117	2	-2.170206	0	1	0	0		1	1	2	3	2.083006	0	0.580000	1.890000	0.581214	0.030000	0	0.070000	0.040000	0.038253	0.030000	0	0.010000	0.050000
FRAS1	80144	broad.mit.edu	37	4	79462159	79462159	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:79462159C>T	ENST00000264895.6	+	74	12360	c.11920C>T	c.(11920-11922)Cgg>Tgg	p.R3974W		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1			103					CTGCACTGTGCGGAACGTCAA	0.473000																								0							SO:0001583	missense			ENST00000264895.6	0	1	hg19	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.68|14.68	2.608257|2.608257	0.46527|0.46527	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.51325	.|0.71	6.08|6.08	4.27|4.27	0.50696|0.50696	.|.	.|0.056812	.|0.64402	.|D	.|0.000004	T|T	0.62392|0.62392	0.2424|0.2424	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	T|T	0.66559|0.66559	-0.5893|-0.5893	5|10	.|0.87932	.|D	.|0	.|.	14.4407|14.4407	0.67314|0.67314	0.4855:0.5145:0.0:0.0|0.4855:0.5145:0.0:0.0	.|.	.|3974	.|E9PHH6	.|.	V|W	2202|3974	.|ENSP00000264895:R3974W	.|ENSP00000264895:R3974W	A|R	+|+	2|1	0|2	FRAS1|FRAS1	79681183|79681183	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.071000|0.071000	0.16799|0.16799	2.329000|2.329000	0.43876|0.43876	1.543000|1.543000	0.49345|0.49345	0.591000|0.591000	0.81541|0.81541	GCG|CGG		TCGA-IB-A6UF-01A-23D-A33T-08	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	6	400	0	60	0	4.747088e-03	0	6	0	60	2		0	0	0	0	0	2	1	9.606618e-01	6	384	0	60	2		0	0	0	0	60	2	-2.927346	1	1	120856	1	31	1	1	2	3	2.151450	0	0.580000	1.890000	0.588356	0.050000	1.000000e-02	1.000000	0.060000	0.112669	0.050000	0	0.030000	0.090000
SEPT8	23176	broad.mit.edu	37	5	132098218	132098218	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:132098218G>A	ENST00000378719.2	-	5	891	c.654C>T	c.(652-654)ccC>ccT	p.P218P	SEPT8_ENST00000378706.1_Silent_p.P218P|SEPT8_ENST00000458488.2_Silent_p.P218P|SEPT8_ENST00000378721.4_Silent_p.P216P|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000296873.7_Silent_p.P218P|SEPT8_ENST00000448933.1_Silent_p.P158P|SEPT8_ENST00000378699.2_Silent_p.P158P|SEPT8_ENST00000378701.1_Silent_p.P216P	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8		SEPT8/AFF4(2)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		CATCATCCGTGGGGAACTGGT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000378719.2	1	1	hg19	CCDS43358.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	1	0	1	127	272	0	58	1	1	10	63	0	58	2		0	0	0	0	0	2	1	1	124	271	0	58	2		0	0	0	0	58	2	-10.753750	1	1	0	0		1	1	2	3	2.101368	0	0.580000	1.890000	0.582422	0.990000	9.400000e-01	1.000000	1.000000	0.996589	0.990000	1	0.990000	1.000000
PPP2CA	5515	broad.mit.edu	37	5	133541798	133541798	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:133541798A>G	ENST00000481195.1	-	2	407	c.127T>C	c.(127-129)Tcc>Ccc	p.S43P	CDKL3_ENST00000609383.1_3'UTR|CDKL3_ENST00000609654.1_Missense_Mutation_p.S393P|PPP2CA_ENST00000231504.5_5'UTR|CTD-2410N18.5_ENST00000519718.1_Intron|CTD-2410N18.4_ENST00000518409.1_RNA	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme			12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Vitamin E(DB00163)	TGCACGTTGGATTCTTTTGTC	0.378000																								0							SO:0001583	missense			ENST00000481195.1	1	1	hg19	CCDS4173.1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.782504	0.70222	.	.	ENSG00000113575	ENST00000481195;ENST00000523082	T;T	0.03745	3.82;3.82	5.35	5.35	0.76521	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.107193	0.64402	D	0.000003	T	0.09423	0.0232	L	0.39245	1.2	0.80722	D	1	B;B	0.29571	0.249;0.001	P;B	0.46049	0.502;0.002	T	0.23013	-1.0200	10	0.62326	D	0.03	-5.6143	15.6174	0.76778	1.0:0.0:0.0:0.0	.	393;43	B7Z2C5;P67775	.;PP2AA_HUMAN	P	43;30	ENSP00000418447:S43P;ENSP00000428816:S30P	ENSP00000418447:S43P	S	-	1	0	PPP2CA	133569697	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.287000	0.95975	2.161000	0.67846	0.482000	0.46254	TCC		TCGA-IB-A6UF-01A-23D-A33T-08	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251165.1	0	0	1	90	243	0	70	1	1	73	146	0	70	2		0	0	0	0	0	2	1	1	90	240	0	70	2		0	0	0	0	70	2	-20.000000	1	1	0	0		1	1	2	3	2.101368	0	0.580000	1.890000	0.582422	0.930000	7.700000e-01	1.000000	1.000000	0.928633	0.930000	1	0.850000	1.000000
PCDHB1	29930	broad.mit.edu	37	5	140431291	140431291	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:140431291G>A	ENST00000306549.3	+	1	313	c.236G>A	c.(235-237)cGc>cAc	p.R79H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	p.R79L(1)		53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CGGCTCCACCGCAAGACGGGA	0.567000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000306549.3	0	1	hg19	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452174	0.26074	.	.	ENSG00000171815	ENST00000306549	T	0.38887	1.11	5.81	5.81	0.92471	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000178	T	0.38480	0.1042	L	0.46614	1.455	0.22719	N	0.998819	D	0.59357	0.985	P	0.48795	0.59	T	0.42749	-0.9433	10	0.30078	T	0.28	.	5.4729	0.16680	0.0748:0.1974:0.598:0.1299	.	79	Q9Y5F3	PCDB1_HUMAN	H	79	ENSP00000307234:R79H	ENSP00000307234:R79H	R	+	2	0	PCDHB1	140411475	0.000000	0.05858	1.000000	0.80357	0.929000	0.56500	0.076000	0.14712	2.756000	0.94617	0.655000	0.94253	CGC		TCGA-IB-A6UF-01A-23D-A33T-08	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	0	0	0	6	459	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	9.625183e-01	6	448	0	93	2		0	0	0	0	94	2	-2.618802	1	1	0	0		1	1	2	3	2.101368	0	0.580000	1.890000	0.582422	0.040000	0	0.110000	0.040000	0.061186	0.040000	0	0.020000	0.070000
PCDHGB1	56104	broad.mit.edu	37	5	140730509	140730509	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:140730509C>T	ENST00000523390.1	+	1	682	c.682C>T	c.(682-684)Cga>Tga	p.R228*	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1			16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TATCTGGATCCGAGTTACGGA	0.547000																								0							SO:0001587	stop_gained			ENST00000523390.1	0	1	hg19	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	14.38	2.518092	0.44763	.	.	ENSG00000254221	ENST00000523390	.	.	.	5.36	1.88	0.25563	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	7.6146	0.28150	0.6252:0.2816:0.0:0.0931	.	.	.	.	X	228	.	ENSP00000429273:R228X	R	+	1	2	PCDHGB1	140710693	0.000000	0.05858	0.031000	0.17742	0.055000	0.15305	0.430000	0.21428	0.655000	0.30866	0.563000	0.77884	CGA		TCGA-IB-A6UF-01A-23D-A33T-08	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	1	0	1	140	330	0	88	0	7.991053e-01	0	9	0	88	2		0	0	0	0	0	2	1	1	128	295	0	79	2		0	0	0	0	88	2	-9.525268	1	1	120854	1	29	1	1	2	3	2.101368	0	0.580000	1.890000	0.582422	0.990000	8.800000e-01	1.000000	1.000000	0.985139	0.990000	1	0.950000	1.000000
PCDH12	51294	broad.mit.edu	37	5	141335933	141335933	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:141335933A>T	ENST00000231484.3	-	1	2694	c.1484T>A	c.(1483-1485)gTc>gAc	p.V495D	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12			38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCGGTATGAGACTTTTCCATT	0.473000																								0							SO:0001583	missense			ENST00000231484.3	1	1	hg19	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.325820	0.41197	.	.	ENSG00000113555	ENST00000231484	T	0.55234	0.53	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.463335	0.22727	N	0.056374	T	0.77315	0.4112	H	0.94886	3.595	0.80722	D	1	D	0.67145	0.996	P	0.62089	0.898	D	0.83734	0.0200	10	0.87932	D	0	.	12.9983	0.58660	1.0:0.0:0.0:0.0	.	495	Q9NPG4	PCD12_HUMAN	D	495	ENSP00000231484:V495D	ENSP00000231484:V495D	V	-	2	0	PCDH12	141316117	1.000000	0.71417	0.835000	0.33067	0.159000	0.22180	9.139000	0.94554	2.169000	0.68431	0.533000	0.62120	GTC		TCGA-IB-A6UF-01A-23D-A33T-08	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	1	0	1	107	233	0	46	0	6.115445e-01	0	6	0	46	2		0	0	0	0	0	2	1	1	106	231	0	46	2		0	0	0	0	46	2	-20.000000	1	1	0	0		1	1	2	3	2.101368	0	0.580000	1.890000	0.582422	0.990000	9.200000e-01	1.000000	1.000000	0.993967	0.990000	1	0.990000	1.000000
FAT2	2196	broad.mit.edu	37	5	150930181	150930181	+	Silent	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:150930181C>T	ENST00000261800.5	-	7	4560	c.4548G>A	c.(4546-4548)tcG>tcA	p.S1516S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2			196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		GGGAGGGCCCCGAGCCGAGGT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000261800.5	0	1	hg19	CCDS4317.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	0	0	0	8	390	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	9.889771e-01	8	385	0	73	2		0	0	0	0	74	2	-2.046387	0	1	121412	2	35	1	1	2	3	2.101368	0	0.580000	1.890000	0.582422	0.070000	2.000000e-02	0.150000	0.070000	0.086931	0.070000	0	0.040000	0.110000
FAM71B	153745	broad.mit.edu	37	5	156593091	156593091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:156593091C>T	ENST00000302938.4	-	1	184	c.89G>A	c.(88-90)cGa>cAa	p.R30Q		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B			68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		GTACAATTGTCGTTGCAGGTC	0.403000																								0							SO:0001583	missense			ENST00000302938.4	1	1	hg19	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	6.047	0.377072	0.11466	.	.	ENSG00000170613	ENST00000302938	T	0.04970	3.52	4.67	2.9	0.33743	.	0.174270	0.35151	N	0.003414	T	0.02929	0.0087	N	0.12887	0.27	0.09310	N	1	P	0.35600	0.511	B	0.23419	0.046	T	0.44877	-0.9299	10	0.38643	T	0.18	-3.3554	8.0345	0.30484	0.0:0.8053:0.0:0.1947	.	30	Q8TC56	FA71B_HUMAN	Q	30	ENSP00000305596:R30Q	ENSP00000305596:R30Q	R	-	2	0	FAM71B	156525669	0.000000	0.05858	0.004000	0.12327	0.097000	0.18754	0.218000	0.17622	0.663000	0.31027	-0.143000	0.13931	CGA		TCGA-IB-A6UF-01A-23D-A33T-08	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	1	0	1	167	421	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	1	166	417	0	97	2		0	0	0	0	98	2	-20.000000	1	1	121412	1	33	1	1	2	3	2.101368	0	0.580000	1.890000	0.582422	0.980000	8.500000e-01	1.000000	1.000000	0.967033	0.980000	1	0.910000	1.000000
UNC5A	90249	broad.mit.edu	37	5	176301068	176301068	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:176301068G>A	ENST00000329542.4	+	7	1260	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	UNC5A_ENST00000261961.3_Missense_Mutation_p.R289Q	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)			34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GTTTATTGCCGGAAGAAGGAG	0.622000																								0							SO:0001583	missense			ENST00000329542.4	0	1	hg19	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	35	5.481357	0.96307	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.51071	0.72;1.03	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.64746	0.2626	L	0.52126	1.63	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.71414	0.973;0.973	T	0.66874	-0.5813	10	0.72032	D	0.01	-35.8421	18.9122	0.92490	0.0:0.0:1.0:0.0	.	289;329	Q6ZN44-3;Q6ZN44	.;UNC5A_HUMAN	Q	329;289	ENSP00000332737:R329Q;ENSP00000261961:R289Q	ENSP00000261961:R289Q	R	+	2	0	UNC5A	176233674	1.000000	0.71417	0.976000	0.42696	0.927000	0.56198	6.361000	0.73070	2.481000	0.83766	0.484000	0.47621	CGG		TCGA-IB-A6UF-01A-23D-A33T-08	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	0	0	0	4	301	1	58		0	0	0	1	58	2		0	0	0	0	0	2	0	1.719143e-03	4	299	1	57	18		0	0	0	1	58	2	-2.840249	1	1	0	0		1	1	2	3	2.101368	0	0.580000	1.890000	0.582422	0.040000	0	0.120000	0.040000	0.065436	0.040000	0	0.020000	0.080000
SQSTM1	8878	broad.mit.edu	37	5	179252186	179252186	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:179252186G>C	ENST00000389805.4	+	5	892	c.714G>C	c.(712-714)aaG>aaC	p.K238N	SQSTM1_ENST00000360718.5_Missense_Mutation_p.K154N|SQSTM1_ENST00000402874.3_Missense_Mutation_p.K154N|SQSTM1_ENST00000376929.3_Missense_Mutation_p.K154N|SQSTM1_ENST00000510187.1_Missense_Mutation_p.K238N	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1		SQSTM1/ALK(2)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		ATTTCCTGAAGAACGTTGGGG	0.468000																								0							SO:0001583	missense			ENST00000389805.4	1	1	hg19	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201297	0.58234	.	.	ENSG00000161011	ENST00000376929;ENST00000514093;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	D;T;D;D;T;D	0.83506	-1.73;1.84;-1.72;-1.73;2.33;-1.73	5.15	4.28	0.50868	.	0.267149	0.41097	N	0.000953	D	0.86590	0.5969	M	0.65498	2.005	0.58432	D	0.999996	P;D	0.63880	0.477;0.993	B;P	0.53954	0.106;0.738	D	0.87728	0.2577	10	0.72032	D	0.01	-32.8687	13.713	0.62680	0.0746:0.0:0.9254:0.0	.	238;238	Q13501;E7EMC7	SQSTM_HUMAN;.	N	154;154;238;94;154;238;154	ENSP00000366128:K154N;ENSP00000427308:K154N;ENSP00000374455:K238N;ENSP00000385553:K154N;ENSP00000424477:K238N;ENSP00000353944:K154N	ENSP00000353944:K154N	K	+	3	2	SQSTM1	179184792	1.000000	0.71417	0.995000	0.50966	0.124000	0.20399	3.988000	0.56951	1.167000	0.42706	0.561000	0.74099	AAG		TCGA-IB-A6UF-01A-23D-A33T-08	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1	1	0	1	97	278	0	83	1	1	418	734	0	83	2		0	0	0	0	0	2	1	1	97	274	0	81	2		0	0	0	0	83	2	-20.000000	1	1	0	0		1	1	2	3	2.101368	0	0.580000	1.890000	0.582422	0.890000	7.400000e-01	1.000000	1.000000	0.896797	0.890000	1	0.810000	0.980000
IRX1	79192	broad.mit.edu	37	5	3599380	3599380	+	Silent	SNP	C	C	T	rs61743903	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:3599380C>T	ENST00000302006.3	+	2	370	c.318C>T	c.(316-318)ccC>ccT	p.P106P	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1			43					GGGTGCACCCCGCCACCTTCG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000302006.3	1	0	hg19	CCDS34132.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	0	0	1	85	226	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1	84	223	0	46	2		0	0	0	0	46	2	-2.716909	1	1	121406	162	52	1	1	2	3	2.078617	0	0.580000	1.890000	0.581214	0.940000	7.700000e-01	1.000000	1.000000	0.932866	0.940000	1	0.850000	1.000000
ITGA2	3673	broad.mit.edu	37	5	52376439	52376439	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:52376439G>A	ENST00000296585.5	+	25	3170	c.3027G>A	c.(3025-3027)gtG>gtA	p.V1009V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)			47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)			TAACTGGGGTGCAAACAGACA	0.383000																								0							SO:0001819	synonymous_variant			ENST00000296585.5	0	1	hg19	CCDS3957.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	0	0	0	5	366	0	54	0	3.847937e-01	0	84	0	54	2		0	0	0	0	0	2	1	9.366072e-01	5	363	0	53	2		0	0	0	0	54	2	-2.922330	1	1	0	0		1	1	2	3	2.078617	0	0.580000	1.890000	0.581214	0.040000	0	0.110000	0.040000	0.055443	0.040000	0	0.020000	0.080000
ASCC3	10973	broad.mit.edu	37	6	101248186	101248186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr6:101248186G>A	ENST00000369162.2	-	6	1461	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	ASCC3_ENST00000522650.1_Missense_Mutation_p.R373W	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	p.R373W(1)		92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)			CTTTGTATCCGCAATTCCTTA	0.348000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000369162.2	0	1	hg19	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041379	0.55003	2.27E-4	0.0	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.61627	0.29;0.09	5.51	-2.59	0.06209	.	0.066271	0.64402	D	0.000020	T	0.64170	0.2574	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.71414	0.973;0.958	T	0.73075	-0.4097	10	0.49607	T	0.09	.	18.3564	0.90358	0.0:0.0:0.3701:0.6299	.	373;373	E7EW23;Q8N3C0	.;HELC1_HUMAN	W	373	ENSP00000358159:R373W;ENSP00000430769:R373W	ENSP00000358159:R373W	R	-	1	2	ASCC3	101354907	0.988000	0.35896	0.515000	0.27774	0.665000	0.39181	0.223000	0.17719	-0.294000	0.08973	-0.310000	0.09108	CGG		TCGA-IB-A6UF-01A-23D-A33T-08	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	0	0	0	4	253	0	62	0	8.556404e-03	0	7	0	62	2		0	0	0	0	0	2	1	8.873700e-01	4	249	0	62	2		0	0	0	0	62	2	-2.132978	0	1	121406	15	42	1	0	1	1	1.475687	1	0.580000	1.890000	0.408451	0.030000	0	0.090000	0.040000	0.046980	0.030000	0	0.020000	0.070000
VARS	7407	broad.mit.edu	37	6	31760017	31760017	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr6:31760017G>A	ENST00000375663.3	-	6	1288	c.848C>T	c.(847-849)cCa>cTa	p.P283L	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase			30				L-Valine(DB00161)	GGGTGGGGTTGGGAGGTCATA	0.537000																								0							SO:0001583	missense			ENST00000375663.3	0	1	hg19	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025223	0.54683	.	.	ENSG00000204394	ENST00000375663	T	0.04234	3.67	5.25	4.36	0.52297	.	0.058877	0.64402	D	0.000002	T	0.03095	0.0091	M	0.61703	1.905	0.80722	D	1	B	0.20671	0.047	B	0.14578	0.011	T	0.16660	-1.0395	10	0.54805	T	0.06	-15.574	12.7975	0.57567	0.0:0.0:0.835:0.165	.	283	P26640	SYVC_HUMAN	L	283	ENSP00000364815:P283L	ENSP00000364815:P283L	P	-	2	0	VARS	31867996	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	5.919000	0.70005	1.166000	0.42689	0.313000	0.20887	CCA		TCGA-IB-A6UF-01A-23D-A33T-08	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	0	0	0	13	464	0	87	1	6.400332e-01	4	72	0	87	2		0	0	0	0	0	2	1	9.994839e-01	13	455	0	87	2		0	0	0	0	87	2	-2.232479	0	1	0	0		1	0	2	2	2.179468	1	0.580000	1.890000	0.580000	0.090000	4.000000e-02	0.160000	0.100000	0.100615	0.090000	0	0.060000	0.130000
BTNL2	56244	broad.mit.edu	37	6	32362627	32362627	+	Silent	SNP	G	G	A	rs144584698		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr6:32362627G>A	ENST00000374993.1	-	6	1253	c.1254C>T	c.(1252-1254)caC>caT	p.H418H	BTNL2_ENST00000540315.1_Silent_p.H208H|BTNL2_ENST00000414363.1_Silent_p.H208H|BTNL2_ENST00000454136.3_Silent_p.H418H|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000544175.1_Silent_p.H141H|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000374995.3_Silent_p.H324H	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	p.H418H(1)		19					ATGTCTGCACGTGGAACAGCC	0.547000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000374993.1	0	1	hg19																																																																																					TCGA-IB-A6UF-01A-23D-A33T-08	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	10	571	0	127		0	0	0	0	127	2		0	0	0	0	0	2	1	9.966688e-01	10	562	0	126	2		0	0	0	0	127	2	-3.092293	1	1	121412	42	49	1	0	1	1	1.554870	1	0.580000	1.890000	0.408451	0.030000	1.000000e-02	0.070000	0.040000	0.046069	0.030000	0	0.020000	0.060000
ZAN	7455	broad.mit.edu	37	7	100383688	100383688	+	RNA	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr7:100383688G>A	ENST00000348028.3	+	0	7068				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)			139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)		CATTCAGTGCGGGGACTTCCG	0.582000																								0											ENST00000348028.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.39	1.924391	0.34002	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.04119	3.7;3.7;3.7;3.7	4.77	-3.44	0.04796	von Willebrand factor, type C (1);	1.461850	0.04593	N	0.397035	T	0.02193	0.0068	.	.	.	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.43988	-0.9357	9	0.15066	T	0.55	.	1.2273	0.01936	0.3587:0.2435:0.2418:0.1559	.	775;2301;2302	F5GX59;F5H0T8;Q9Y493	.;.;ZAN_HUMAN	R	2301;2301;2301;775	ENSP00000445943:G2301R;ENSP00000445091:G2301R;ENSP00000444427:G2301R;ENSP00000441117:G775R	ENSP00000445091:G2301R	G	+	1	0	ZAN	100221624	0.000000	0.05858	0.000000	0.03702	0.633000	0.38033	-1.866000	0.01647	-0.883000	0.03982	-0.823000	0.03104	GGG		TCGA-IB-A6UF-01A-23D-A33T-08	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	0	0	0	156	363	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1	154	361	0	72	2		0	0	0	0	75	2	-10.081640	1	1	0	0		1	1	2	3	2.105735	0	0.580000	1.890000	0.584816	0.990000	9.100000e-01	1.000000	1.000000	0.990528	0.990000	1	0.970000	1.000000
DGKI	9162	broad.mit.edu	37	7	137269964	137269964	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr7:137269964G>A	ENST00000288490.5	-	14	1554	c.1554C>T	c.(1552-1554)ggC>ggT	p.G518G	DGKI_ENST00000424189.2_Silent_p.G518G|DGKI_ENST00000446122.1_Silent_p.G518G|DGKI_ENST00000453654.2_Silent_p.G218G	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota			84					CCTTACATACGCCATCTTCAA	0.483000																								0							SO:0001819	synonymous_variant			ENST00000288490.5	1	1	hg19	CCDS5845.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	1	0	0	144	448	1	84		0	0	0	1	84	2		0	0	0	0	0	2	1	1	144	447	1	84	22		0	0	0	1	84	2	-20.000000	1	1	121412	10	42	1	1	2	3	2.105735	0	0.580000	1.890000	0.584816	0.840000	7.200000e-01	1.000000	0.850000	0.854595	0.840000	0	0.780000	0.920000
PDAP1	11333	broad.mit.edu	37	7	98997952	98997952	+	Silent	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr7:98997952C>T	ENST00000350498.3	-	4	589	c.309G>A	c.(307-309)ggG>ggA	p.G103G	PDAP1_ENST00000496335.1_5'Flank	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1			9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		GCTCCTTTGGCCCGTCCAGAT	0.562000																								0							SO:0001819	synonymous_variant			ENST00000350498.3	0	1	hg19	CCDS5662.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336388.2	0	0	0	5	325	0	46	0	9.935721e-01	1	670	0	46	2		0	0	0	0	0	2	1	9.370029e-01	5	323	0	46	2		0	0	0	0	46	2	-2.564360	1	1	0	0		1	1	2	3	2.105735	0	0.580000	1.890000	0.584816	0.050000	1.000000e-02	1.000000	0.060000	0.089843	0.050000	0	0.030000	0.090000
SNTB1	6641	broad.mit.edu	37	8	121644818	121644818	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:121644818C>T	ENST00000395601.3	-	4	1276	c.862G>A	c.(862-864)Gca>Aca	p.A288T	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.A288T	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)			24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)		CTGAACCATGCCTGGGCCGTG	0.552000																								0							SO:0001583	missense			ENST00000395601.3	0	1	hg19	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270243	0.59540	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.54675	0.56;0.56	6.03	6.03	0.97812	Pleckstrin homology domain (2);	0.098404	0.64402	D	0.000001	T	0.50171	0.1600	L	0.45581	1.43	0.54753	D	0.999987	B;B	0.28350	0.017;0.208	B;B	0.26310	0.013;0.068	T	0.36286	-0.9754	10	0.30854	T	0.27	.	20.5596	0.99324	0.0:1.0:0.0:0.0	.	288;288	Q13884;Q13884-2	SNTB1_HUMAN;.	T	288	ENSP00000378965:A288T;ENSP00000431124:A288T	ENSP00000378965:A288T	A	-	1	0	SNTB1	121713999	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	2.745000	0.47459	2.868000	0.98415	0.555000	0.69702	GCA		TCGA-IB-A6UF-01A-23D-A33T-08	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	0	0	0	5	380	0	37	0	1.596156e-01	0	45	0	37	2		0	0	0	0	0	2	1	9.330520e-01	4	370	0	37	2		0	0	0	0	37	2	-5.088515	1	0	0	0		1	1	2	3	2.557942	1	0.580000	1.890000	0.668456	0.060000	1.000000e-02	1.000000	0.060000	0.127310	0.060000	0	0.030000	0.110000
ADRA1A	148	broad.mit.edu	37	8	26722237	26722237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:26722237C>T	ENST00000519229.1	-	1	256	c.250G>A	c.(250-252)Gcc>Acc	p.A84T	ADRA1A_ENST00000380572.3_Missense_Mutation_p.A84T|ADRA1A_ENST00000380581.2_Missense_Mutation_p.A84T|ADRA1A_ENST00000380573.3_Missense_Mutation_p.A84T|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A84T|ADRA1A_ENST00000354550.4_Missense_Mutation_p.A84T|ADRA1A_ENST00000380587.1_Missense_Mutation_p.A84T|ADRA1A_ENST00000380586.1_Missense_Mutation_p.A84T|ADRA1A_ENST00000358857.5_Missense_Mutation_p.A84T|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A84T			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A			36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TCGAAGATGGCGGAGAAGGGC	0.627000																								0							SO:0001583	missense			ENST00000519229.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	27.5	4.836309	0.91117	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.057498	0.64402	D	0.000001	T	0.57504	0.2058	L	0.61387	1.9	0.80722	D	1	D;D;D;D;P;D	0.89917	0.992;0.992;0.997;0.998;0.944;1.0	P;P;D;D;B;D	0.67900	0.875;0.875;0.918;0.923;0.284;0.954	T	0.61337	-0.7083	10	0.66056	D	0.02	.	17.898	0.88895	0.0:1.0:0.0:0.0	.	84;84;84;84;84;84	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	T	84	ENSP00000369960:A84T;ENSP00000369961:A84T;ENSP00000369956:A84T;ENSP00000369955:A84T;ENSP00000430793:A84T;ENSP00000346557:A84T;ENSP00000276393:A84T;ENSP00000369947:A84T;ENSP00000369946:A84T;ENSP00000351725:A84T	ENSP00000276393:A84T	A	-	1	0	ADRA1A	26778154	1.000000	0.71417	0.941000	0.38009	0.992000	0.81027	7.776000	0.85560	2.365000	0.80145	0.563000	0.77884	GCC		TCGA-IB-A6UF-01A-23D-A33T-08	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	0	0	0	6	557	0	188		0	0	0	0	188	2		0	0	0	0	0	2	1	9.637538e-01	6	550	0	187	2		0	0	0	0	188	2	-2.195804	0	1	121412	1	41	1	0	1	1	1.557174	1	0.580000	1.890000	0.408451	0.020000	0	0.050000	0.030000	0.030257	0.020000	0	0.010000	0.040000
SNTG1	54212	broad.mit.edu	37	8	51664572	51664572	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:51664572G>C	ENST00000522124.1	+	18	1957	c.1296G>C	c.(1294-1296)tgG>tgC	p.W432C	SNTG1_ENST00000276467.5_Intron|SNTG1_ENST00000517473.1_Intron|SNTG1_ENST00000518864.1_Missense_Mutation_p.W432C	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1			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)			CTGTCCTTTGGAGGTATAAAT	0.333000																								0							SO:0001583	missense			ENST00000522124.1	1	1	hg19	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560557	0.65538	.	.	ENSG00000147481	ENST00000518864;ENST00000522124	T;T	0.78816	-1.21;-1.21	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.87783	0.6264	M	0.74467	2.265	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.89183	0.3545	10	0.87932	D	0	-14.0967	17.8066	0.88602	0.0:0.0:1.0:0.0	.	432	Q9NSN8	SNTG1_HUMAN	C	432	ENSP00000429276:W432C;ENSP00000429842:W432C	ENSP00000429276:W432C	W	+	3	0	SNTG1	51827125	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.157000	0.94714	2.501000	0.84356	0.637000	0.83480	TGG		TCGA-IB-A6UF-01A-23D-A33T-08	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1	1	0	1	110	411	0	92	0	0	0	1	0	92	2		0	0	0	0	0	2	1	1	110	409	0	92	2		0	0	0	0	92	2	-3.522370	1	1	0	0		1	1	2	3	2.557942	1	0.580000	1.890000	0.668456	0.920000	7.700000e-01	1.000000	1.000000	0.923702	0.920000	1	0.840000	1.000000
OPRK1	4986	broad.mit.edu	37	8	54163405	54163405	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:54163405C>G	ENST00000265572.3	-	2	490	c.193G>C	c.(193-195)Gtc>Ctc	p.V65L	OPRK1_ENST00000520287.1_Missense_Mutation_p.V65L	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1			43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)		Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ACGGAGTAGACCGCCGTGATG	0.701000																								0							SO:0001583	missense			ENST00000265572.3	1	1	hg19	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781523	0.90282	.	.	ENSG00000082556	ENST00000265572;ENST00000520287;ENST00000396798	T;T	0.35421	1.31;1.31	4.93	4.93	0.64822	.	0.124940	0.56097	D	0.000033	T	0.28830	0.0715	L	0.42245	1.32	0.80722	D	1	B	0.13594	0.008	B	0.16722	0.016	T	0.10520	-1.0626	10	0.02654	T	1	.	16.1573	0.81676	0.0:1.0:0.0:0.0	.	65	P41145	OPRK_HUMAN	L	65;65;51	ENSP00000265572:V65L;ENSP00000429706:V65L	ENSP00000265572:V65L	V	-	1	0	OPRK1	54325958	0.999000	0.42202	0.962000	0.40283	0.954000	0.61252	4.205000	0.58466	2.586000	0.87340	0.456000	0.33151	GTC		TCGA-IB-A6UF-01A-23D-A33T-08	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1	1	0	0	135	195	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	1	132	193	0	26	2		0	0	0	0	27	2	-20.000000	1	1	0	0		1	1	2	3	2.557942	1	0.580000	1.890000	0.668456	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
MOS	4342	broad.mit.edu	37	8	57025772	57025772	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:57025772G>A	ENST00000311923.1	-	1	769	c.770C>T	c.(769-771)aCg>aTg	p.T257M		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog			22			Epithelial(17;0.00117)|all cancers(17;0.00879)		GGCTTTAGGCGTCACGCCCTC	0.572000													Esophageal Squamous(124;373 2870 4778)											0							SO:0001583	missense			ENST00000311923.1	1	1	hg19	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623610	0.46840	.	.	ENSG00000172680	ENST00000311923	D	0.94613	-3.47	5.8	4.93	0.64822	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.063339	0.64402	D	0.000005	D	0.97770	0.9268	M	0.92412	3.305	0.49582	D	0.999808	D	0.89917	1.0	D	0.79784	0.993	D	0.98669	1.0687	10	0.87932	D	0	.	14.8663	0.70419	0.0686:0.0:0.9314:0.0	.	257	P00540	MOS_HUMAN	M	257	ENSP00000310722:T257M	ENSP00000310722:T257M	T	-	2	0	MOS	57188326	1.000000	0.71417	0.031000	0.17742	0.125000	0.20455	9.281000	0.95811	1.470000	0.48102	0.561000	0.74099	ACG		TCGA-IB-A6UF-01A-23D-A33T-08	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	1	0	1	104	386	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1	101	381	0	65	2		0	0	0	0	65	2	-20.000000	1	1	0	0		1	1	2	3	2.557942	1	0.580000	1.890000	0.668456	0.930000	7.700000e-01	1.000000	1.000000	0.926916	0.930000	1	0.840000	1.000000
CDH17	1015	broad.mit.edu	37	8	95142932	95142932	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:95142932G>A	ENST00000027335.3	-	17	2444	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.R774W	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	p.R774W(1)		52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)		CCTGCTGGCCGGAAACAACTT	0.448000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000027335.3	0	1	hg19	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417426	0.25552	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.58358	0.34;0.34	5.84	2.83	0.33086	Cadherin (1);	0.561125	0.16175	N	0.226091	T	0.46014	0.1371	L	0.56769	1.78	0.27273	N	0.95831	D	0.63046	0.992	B	0.40534	0.332	T	0.37549	-0.9701	10	0.37606	T	0.19	-0.1227	11.2752	0.49163	0.0:0.0:0.5163:0.4836	.	774	Q12864	CAD17_HUMAN	W	774	ENSP00000027335:R774W;ENSP00000401468:R774W	ENSP00000027335:R774W	R	-	1	2	CDH17	95212108	0.965000	0.33210	0.969000	0.41365	0.045000	0.14185	1.376000	0.34306	0.760000	0.33108	-0.282000	0.10007	CGG		TCGA-IB-A6UF-01A-23D-A33T-08	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	0	0	0	5	287	0	36	0	1.888756e-02	0	10	0	36	2		0	0	0	0	0	2	1	9.380657e-01	5	287	0	36	2		0	0	0	0	36	2	-2.840292	1	1	121390	1	26	1	1	2	3	2.557942	1	0.580000	1.890000	0.668456	0.080000	2.000000e-02	1.000000	0.080000	0.147558	0.080000	0	0.040000	0.140000
GARNL3	84253	broad.mit.edu	37	9	130145778	130145778	+	Silent	SNP	T	T	G			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr9:130145778T>G	ENST00000373387.4	+	23	2575	c.2223T>G	c.(2221-2223)tcT>tcG	p.S741S	GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_Silent_p.S741S|GARNL3_ENST00000435213.2_Silent_p.S719S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3			41					TTCAACCTTCTGCGTCAGATT	0.388000																								0							SO:0001819	synonymous_variant			ENST00000373387.4	1	1	hg19	CCDS6869.2																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	1	0	0	15	286	0	45	0	8.510238e-03	0	3	0	45	2		0	0	0	0	0	2	1	9.998663e-01	15	281	0	45	2		0	0	0	0	45	2	-4.890839	1	1	0	0		1	1	2	3	2.116127	0	0.580000	1.890000	0.586003	0.170000	1.000000e-01	1.000000	0.170000	0.215270	0.170000	0	0.130000	0.240000
EHMT1	79813	broad.mit.edu	37	9	140671243	140671243	+	Silent	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr9:140671243C>T	ENST00000460843.1	+	12	1992	c.1965C>T	c.(1963-1965)ccC>ccT	p.P655P	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Silent_p.P655P|EHMT1_ENST00000334856.6_Silent_p.P624P	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1			41	all_cancers(76;0.164)				CACCAGTCCCCGGGCAGGAGA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000460843.1	1	1	hg19	CCDS7050.2																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	1	0	1	81	230	0	60	1	9.999974e-01	15	42	0	60	2		0	0	0	0	0	2	1	1	78	226	0	59	2		0	0	0	0	60	2	-4.905162	1	1	121412	10	42	1	1	2	3	2.116127	0	0.580000	1.890000	0.586003	0.910000	7.400000e-01	1.000000	1.000000	0.910080	0.910000	1	0.820000	1.000000
FRMPD1	22844	broad.mit.edu	37	9	37708409	37708409	+	Silent	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr9:37708409C>T	ENST00000539465.1	+	4	866	c.273C>T	c.(271-273)caC>caT	p.H91H	FRMPD1_ENST00000377765.3_Silent_p.H91H|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1			93					GCTCTGCTCACGGCAAGCTTT	0.493000																								0							SO:0001819	synonymous_variant			ENST00000539465.1	1	1	hg19	CCDS6612.1																																																																																				TCGA-IB-A6UF-01A-23D-A33T-08	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	1	0	1	149	369	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	1	149	366	0	83	2		0	0	0	0	83	2	-9.314138	1	1	121412	4	39	1	0	0	0	2.054757	0	0.580000	1.890000	0.577550	0.980000	8.500000e-01	1.000000	1.000000	0.965970	0.980000	1	0.910000	1.000000
KIAA2022	340533	broad.mit.edu	37	X	73960072	73960072	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chrX:73960072G>A	ENST00000055682.6	-	3	4931	c.4320C>T	c.(4318-4320)aaC>aaT	p.N1440N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022			109					GTGTCGGTCCGTTATTGCCTA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000055682.6	1	1	hg19	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	3.844	-0.033191	0.07543	.	.	ENSG00000050030	ENST00000424929	.	.	.	5.36	-7.06	0.01568	.	.	.	.	.	T	0.59878	0.2226	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64232	-0.6456	4	.	.	.	-17.3921	13.7648	0.62988	0.309:0.0916:0.5995:0.0	.	.	.	.	W	42	.	.	R	-	1	2	KIAA2022	73876797	0.008000	0.16893	0.938000	0.37757	0.996000	0.88848	-0.935000	0.03950	-1.139000	0.02881	0.544000	0.68410	CGG		TCGA-IB-A6UF-01A-23D-A33T-08	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	1	0	1	183	135	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1	183	135	0	44	2		0	0	0	0	45	2	-20.000000	1	1	121410	8	41	1	0	1	1			0.580000	1.890000	0.580000	0.960000	8.800000e-01	1.000000	0.990000	0.960084	0.960000	1	0.920000	0.990000
