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
PACS2	23241	broad.mit.edu	37	14	105818795	105818797	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			CTC	-	CTC	CTC		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr14:105818795_105818797delCTC	ENST00000325438.8	+	3	792_794	c.288_290delCTC	c.(286-291)ttctcc>ttc	p.S97del	PACS2_ENST00000447393.1_In_Frame_Del_p.S97del|PACS2_ENST00000430725.2_In_Frame_Del_p.S30del|PACS2_ENST00000458164.2_In_Frame_Del_p.S97del|PACS2_ENST00000547217.1_Intron			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2			21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)		CCCTGACCTTCTCCTTGCAGGTG	0.616000											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001651	inframe_deletion			ENST00000325438.8	1	1	hg19	CCDS32168.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	1	0	0	72	437	0	115	1	1	14	733	0	115	2			0	0	0	0		1	0.999735	103	453	6	119	43	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.824587	1	0.280000	1.920000	0.162791	0.850000	0.680000	0.990000	0.860000	0.852248	0.850000	1	0.760000	0.940000
TP53	7157	broad.mit.edu	37	17	7579585	7579585	+	Frame_Shift_Del	DEL	G	G	-	rs11575998		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:7579585delG	ENST00000269305.4	-	4	291	c.102delC	c.(100-102)cccfs	p.P34fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P34fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P34fs	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.0?(8)|p.L35fs*9(2)|p.?(1)|p.S33fs*23(1)|p.P34fs*8(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*6(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GGGACGGCAAGGGGGACTGTA	0.597000		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	16	Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(1)|Insertion - Frameshift(1)						SO:0001589	frameshift_variant	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	0	hg19	CCDS11118.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	122	963	0	272	1	9.417375e-01	7	32	0	272	2	1	1	106	704	0	316	2	1	0.980472	157	948	19	268	96	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.767176	1	0.280000	1.920000	0.172223	0.690000	0.580000	0.810000	0.690000	0.699908	0.690000	0	0.630000	0.760000
ZNF470	388566	broad.mit.edu	37	19	57089013	57089014	+	In_Frame_Ins	INS	-	-	TAA			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:57089013_57089014insTAA	ENST00000330619.8	+	6	1902_1903	c.1216_1217insTAA	c.(1216-1218)ttc>tTAAtc	p.406_406F>LI	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_In_Frame_Ins_p.406_406F>LI	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470			41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)			TGGGAAGGCTTTCACTGATCAC	0.426000																								0							SO:0001652	inframe_insertion			ENST00000330619.8	0	1	hg19	CCDS33122.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	1	0	0	29	416	0	85	0	1.327021e-02	0	3	0	85	2			0	0	0	0		1	1.000000	40	413	0	83	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.065357	0	0.280000	1.920000	0.288959	0.480000	0.320000	1.000000	0.470000	0.520363	0.480000	0	0.390000	0.600000
DUPD1	338599	broad.mit.edu	37	10	76797813	76797813	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:76797813G>A	ENST00000338487.5	-	3	443	c.444C>T	c.(442-444)gtC>gtT	p.V148V		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1			11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)				TGCGGCCCATGACGCAGTGAA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000338487.5	1	1	hg19	CCDS31223.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	1	0	1	41	285	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1.000000	40	283	0	58	2		0	0	0	0	58	2	-20.000000	1	1	0	0		1	0	0	0	1.993227	0	0.280000	1.920000	0.267697	0.870000	0.650000	1.000000	1.000000	0.876315	0.870000	1	0.750000	1.000000
IGSF22	283284	broad.mit.edu	37	11	18736985	18736985	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:18736985C>G	ENST00000513874.1	-	11	1664	c.1525G>C	c.(1525-1527)Gtg>Ctg	p.V509L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22			56					TTACCCTCCACAGTGACGATG	0.547000																								0							SO:0001583	missense			ENST00000513874.1	1	1	hg19	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	1.041	-0.678902	0.03378	.	.	ENSG00000179057	ENST00000513874	T	0.13307	2.6	4.92	2.03	0.26663	.	0.203922	0.24126	N	0.041315	T	0.11110	0.0271	L	0.50333	1.59	0.19945	N	0.999945	B	0.34015	0.435	B	0.24974	0.057	T	0.14615	-1.0466	10	0.62326	D	0.03	.	8.4726	0.32995	0.0:0.7586:0.0:0.2414	.	509	D6RGV7	.	L	509	ENSP00000421191:V509L	ENSP00000322422:V509L	V	-	1	0	IGSF22	18693561	0.998000	0.40836	0.291000	0.24904	0.028000	0.11728	2.788000	0.47806	0.143000	0.18926	0.555000	0.69702	GTG		TCGA-FB-A5VM-01A-11D-A32N-08	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	1	0	1	69	463	0	125		0	0	0	0	125	2		0	0	0	0	0	2	1	1.000000	69	447	0	124	2		0	0	0	0	125	2	-20.000000	1	1	0	0		1	1	2	3	2.044068	0	0.280000	1.920000	0.285005	0.930000	0.730000	1.000000	1.000000	0.922873	0.930000	1	0.830000	1.000000
ANO5	203859	broad.mit.edu	37	11	22281145	22281145	+	Silent	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:22281145A>G	ENST00000324559.8	+	15	1805	c.1488A>G	c.(1486-1488)gaA>gaG	p.E496E	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5			63					GTTTCATGGAAAGTGATGCAT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000324559.8	1	1	hg19	CCDS31444.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	1	0	0	37	291	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1.000000	38	287	0	57	2		0	0	0	0	58	2	-14.955220	1	1	0	0		1	1	2	3	2.044068	0	0.280000	1.920000	0.285005	0.810000	0.580000	1.000000	1.000000	0.823427	0.810000	0	0.690000	0.970000
FBXO3	26273	broad.mit.edu	37	11	33763529	33763529	+	Silent	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:33763529T>C	ENST00000265651.3	-	11	1359	c.1341A>G	c.(1339-1341)gaA>gaG	p.E447E	FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000526785.1_Silent_p.E334E|FBXO3_ENST00000532057.1_Silent_p.E134E|FBXO3_ENST00000531080.1_Silent_p.E134E	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3			13		Lung NSC(402;0.0804)			CTTCATCATCTTCATCTGATT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000265651.3	1	1	hg19	CCDS7887.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	1	0	1	29	184	0	36	1	9.737808e-01	11	29	0	36	2		0	0	0	0	0	2	1	1.000000	29	179	0	35	2		0	0	0	0	36	2	-14.692590	1	1	0	0		1	1	2	3	2.044068	0	0.280000	1.920000	0.285005	0.980000	0.680000	1.000000	1.000000	0.931675	0.980000	1	0.820000	1.000000
FBXO3	26273	broad.mit.edu	37	11	33763531	33763531	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:33763531C>T	ENST00000265651.3	-	11	1357	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000526785.1_Missense_Mutation_p.E334K|FBXO3_ENST00000532057.1_Missense_Mutation_p.E134K|FBXO3_ENST00000531080.1_Missense_Mutation_p.E134K	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3			13		Lung NSC(402;0.0804)			TCATCATCTTCATCTGATTCA	0.483000																								0							SO:0001583	missense			ENST00000265651.3	1	1	hg19	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476081	0.63737	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000531080;ENST00000532057	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	4.78	4.78	0.61160	.	0.143577	0.32372	N	0.006184	T	0.71609	0.3360	N	0.14661	0.345	0.80722	D	1	P	0.46578	0.88	P	0.62184	0.899	T	0.76759	-0.2841	10	0.66056	D	0.02	-6.8063	15.9536	0.79861	0.0:1.0:0.0:0.0	.	447	Q9UK99	FBX3_HUMAN	K	334;447;134;134	ENSP00000435680:E334K;ENSP00000265651:E447K;ENSP00000435165:E134K;ENSP00000434001:E134K	ENSP00000265651:E447K	E	-	1	0	FBXO3	33720107	0.999000	0.42202	0.999000	0.59377	0.978000	0.69477	4.196000	0.58407	2.339000	0.79563	0.561000	0.74099	GAA		TCGA-FB-A5VM-01A-11D-A32N-08	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	1	0	1	28	177	0	37	1	9.739817e-01	11	29	0	37	2		0	0	0	0	0	2	1	1.000000	28	172	0	35	2		0	0	0	0	37	2	-20.000000	1	1	0	0		1	1	2	3	2.044068	0	0.280000	1.920000	0.285005	0.990000	0.680000	1.000000	1.000000	0.932196	0.990000	1	0.820000	1.000000
OR5M3	219482	broad.mit.edu	37	11	56237570	56237570	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:56237570G>C	ENST00000312240.2	-	1	444	c.404C>G	c.(403-405)tCa>tGa	p.S135*		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3			37	Esophageal squamous(21;0.00448)				GACAACCCTTGACATTTTACT	0.408000																								0							SO:0001587	stop_gained			ENST00000312240.2	0	1	hg19	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502469	0.64298	.	.	ENSG00000174937	ENST00000312240	.	.	.	5.13	4.15	0.48705	.	0.000000	0.40064	N	0.001184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.6464	11.3494	0.49579	0.0:0.0:0.692:0.308	.	.	.	.	X	135	.	ENSP00000312208:S135X	S	-	2	0	OR5M3	55994146	0.250000	0.23951	0.977000	0.42913	0.808000	0.45660	0.644000	0.24766	2.381000	0.81170	0.478000	0.44815	TCA		TCGA-FB-A5VM-01A-11D-A32N-08	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	0	0	0	8	614	0	131		0	0	0	0	131	2		0	0	0	0	0	2	1	0.988786	8	605	0	131	2		0	0	0	0	131	2	-3.144007	1	1	0	0		1	1	2	3	2.044068	0	0.280000	1.920000	0.285005	0.090000	0.040000	1.000000	0.090000	0.137372	0.090000	0	0.060000	0.140000
GIF	2694	broad.mit.edu	37	11	59599213	59599213	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:59599213G>A	ENST00000257248.2	-	8	1177	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	GIF_ENST00000541311.1_Missense_Mutation_p.A352V	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	p.A377V(1)		17				Cyanocobalamin(DB00115)	AACATTTTCCGCGATATTGTT	0.368000													NSCLC(53;1139 1245 16872 38474 42853)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000257248.2	1	1	hg19	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	G	9.534	1.111534	0.20714	2.27E-4	2.33E-4	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.42131	1.09;0.98	5.41	4.41	0.53225	.	0.412532	0.22845	N	0.054935	T	0.28234	0.0697	L	0.53249	1.67	0.20821	N	0.999847	P	0.43909	0.821	B	0.17098	0.017	T	0.35076	-0.9803	10	0.25751	T	0.34	-10.6094	12.1115	0.53842	0.0:0.0:0.8172:0.1828	.	377	P27352	IF_HUMAN	V	377;352	ENSP00000257248:A377V;ENSP00000440427:A352V	ENSP00000257248:A377V	A	-	2	0	GIF	59355789	0.563000	0.26594	0.980000	0.43619	0.764000	0.43329	1.685000	0.37659	2.532000	0.85374	0.655000	0.94253	GCG		TCGA-FB-A5VM-01A-11D-A32N-08	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	1	0	1	40	327	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1.000000	37	323	0	65	2		0	0	0	0	66	2	-14.895970	1	1	121410	11	44	1	1	2	3	2.044068	0	0.280000	1.920000	0.285005	0.780000	0.570000	1.000000	1.000000	0.799121	0.780000	0	0.670000	0.930000
PLCB3	5331	broad.mit.edu	37	11	64026576	64026576	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:64026576G>A	ENST00000540288.1	+	13	1488	c.1385G>A	c.(1384-1386)cGt>cAt	p.R462H	PLCB3_ENST00000325234.5_Missense_Mutation_p.R395H|PLCB3_ENST00000279230.6_Missense_Mutation_p.R462H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)			33					CTGATGGGCCGTATCCTGGTG	0.706000																								0							SO:0001583	missense			ENST00000540288.1	0	1	hg19	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196608	0.79015	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.66995	-0.24;-0.24;-0.24	4.58	4.58	0.56647	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.123452	0.53938	D	0.000042	T	0.74230	0.3689	M	0.77486	2.375	0.45464	D	0.998435	D;D	0.63880	0.993;0.979	P;P	0.53593	0.73;0.697	T	0.78178	-0.2305	10	0.87932	D	0	.	9.9241	0.41481	0.0964:0.0:0.9036:0.0	.	395;462	G5E960;Q01970	.;PLCB3_HUMAN	H	462;462;395	ENSP00000279230:R462H;ENSP00000443631:R462H;ENSP00000324660:R395H	ENSP00000279230:R462H	R	+	2	0	PLCB3	63783152	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	4.876000	0.63079	2.111000	0.64477	0.561000	0.74099	CGT		TCGA-FB-A5VM-01A-11D-A32N-08	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1	0	0	0	4	133	0	36	0	2.668729e-01	0	28	0	36	2		0	0	0	0	0	2	1	0.891499	4	133	0	36	2		0	0	0	0	36	2	-3.538875	1	1	0	0		1	1	2	3	2.044068	0	0.280000	1.920000	0.285005	0.230000	0.070000	1.000000	0.210000	0.282359	0.230000	0	0.140000	0.380000
RBM19	9904	broad.mit.edu	37	12	114377796	114377796	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:114377796C>T	ENST00000545145.2	-	15	1985	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.R636H|RBM19_ENST00000392561.3_Missense_Mutation_p.R636H	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19			55	Medulloblastoma(191;0.163)|all_neural(191;0.178)				GAAGGCCTTGCGGGCCTCCAG	0.622000																								0							SO:0001583	missense			ENST00000545145.2	0	1	hg19	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745338	0.69418	0.0	1.16E-4	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.09073	3.02;3.02;3.02	4.3	2.42	0.29668	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.185022	0.44483	N	0.000448	T	0.19805	0.0476	M	0.65320	2	0.39781	D	0.972299	D	0.71674	0.998	D	0.68353	0.957	T	0.01146	-1.1437	10	0.87932	D	0	-11.8564	6.7325	0.23390	0.0:0.5626:0.0:0.4373	.	636	Q9Y4C8	RBM19_HUMAN	H	636	ENSP00000442053:R636H;ENSP00000376344:R636H;ENSP00000261741:R636H	ENSP00000261741:R636H	R	-	2	0	RBM19	112862179	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.445000	0.66594	0.820000	0.34516	0.561000	0.74099	CGC		TCGA-FB-A5VM-01A-11D-A32N-08	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	0	0	0	8	532	0	112	0	1.080334e-01	0	33	0	112	2		0	0	0	0	0	2	1	0.989299	8	530	0	111	2		0	0	0	0	112	2	-1.905563	0	1	0	0		1	0	0	0	2.006247	0	0.280000	1.920000	0.271845	0.100000	0.040000	0.200000	0.100000	0.116699	0.100000	0	0.070000	0.150000
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:25380275T>G	ENST00000256078.4	-	3	246	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.Q61H(153)	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)		TGTACTCCTCTTGACCTGCTG	0.423000	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	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	153	Substitution - Missense(153)						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	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133750	0.77662	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	.	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA		TCGA-FB-A5VM-01A-11D-A32N-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	35	235	0	57	1	5.646846e-01	6	8	0	57	2	1	1	32	301	0	610	2	1	1.000000	35	230	0	57	2	1	1	1302	6692	0	57	2	-20.000000	1	1	0	0		1	0	0	0	2.006247	0	0.280000	1.920000	0.271845	0.910000	0.650000	1.000000	1.000000	0.896985	0.910000	1	0.770000	1.000000
RGMA	56963	broad.mit.edu	37	15	93595475	93595475	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:93595475C>T	ENST00000329082.7	-	3	664	c.393G>A	c.(391-393)ccG>ccA	p.P131P	RGMA_ENST00000555584.1_5'Flank|RGMA_ENST00000425933.2_Silent_p.P115P|RGMA_ENST00000542321.2_Silent_p.P115P|RGMA_ENST00000557301.1_Silent_p.P139P|RGMA_ENST00000556658.1_Silent_p.P22P|RGMA_ENST00000538818.1_Silent_p.P22P|RGMA_ENST00000543599.1_Silent_p.P115P|RGMA_ENST00000556087.1_Silent_p.P115P|RGMA_ENST00000557420.1_Intron	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a			9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)		TGTCTCCGGCCGGTGGGAGCG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000329082.7	1	1	hg19	CCDS45357.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	1	0	1	47	328	0	97	0	1.650457e-02	0	2	0	97	2		0	0	0	0	0	2	1	1.000000	47	322	0	96	2		0	0	0	0	97	2	-3.221921	1	1	121328	2	37	1	1	2	3	2.039741	0	0.280000	1.920000	0.285005	0.900000	0.670000	1.000000	1.000000	0.896329	0.900000	1	0.780000	1.000000
FLYWCH1	84256	broad.mit.edu	37	16	2979735	2979735	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:2979735G>A	ENST00000253928.9	+	3	454	c.49G>A	c.(49-51)Ggc>Agc	p.G17S	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.G17S|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.G17S			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1			4					TGTGAAGGCCGGCCAGGAGCC	0.692000																								0							SO:0001583	missense			ENST00000253928.9	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.36	1.329821	0.24167	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	3.01	2.04	0.26737	.	.	.	.	.	T	0.15609	0.0376	N	0.19112	0.55	0.24293	N	0.995159	B;P	0.39060	0.105;0.657	B;B	0.32677	0.018;0.15	T	0.10042	-1.0647	8	0.38643	T	0.18	.	6.03	0.19675	0.1435:0.0:0.8565:0.0	.	17;17	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	S	17	.	ENSP00000253928:G17S	G	+	1	0	FLYWCH1	2919736	0.537000	0.26386	0.679000	0.29978	0.109000	0.19521	0.577000	0.23758	0.844000	0.35094	0.456000	0.33151	GGC		TCGA-FB-A5VM-01A-11D-A32N-08	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	0	0	0	4	126	0	34	0	6.917223e-02	0	11	0	34	2		0	0	0	0	0	2	1	0.887878	4	124	0	34	2		0	0	0	0	34	2	-6.741605	1	1	121390	14	43	1	0	1	1	1.751874	1	0.280000	1.920000	0.162791	0.200000	0.060000	0.430000	0.180000	0.223543	0.200000	0	0.120000	0.310000
SEPHS2	22928	broad.mit.edu	37	16	30455811	30455811	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:30455811G>A	ENST00000478753.2	-	1	1691	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	SEPHS2_ENST00000500504.2_Missense_Mutation_p.T413M|SEPHS2_ENST00000542752.1_Missense_Mutation_p.T356M			Q99611	SPS2_HUMAN	selenophosphate synthetase 2			10					GATCCGGGCCGTTCGGTTTCC	0.537000													Esophageal Squamous(81;1142 1261 11202 24614 35697)											0							SO:0001583	missense			ENST00000478753.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	7.619	0.676333	0.14841	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.18174	2.23;2.23;2.23	5.28	4.32	0.51571	AIR synthase-related protein, C-terminal (2);	0.239370	0.39834	N	0.001245	T	0.18882	0.0453	L	0.61387	1.9	0.80722	D	1	P;B	0.42039	0.769;0.091	B;B	0.36186	0.219;0.082	T	0.03268	-1.1054	10	0.48119	T	0.1	-14.479	14.0137	0.64513	0.0:0.1527:0.8473:0.0	.	413;356	Q99611;F5H8F9	SPS2_HUMAN;.	M	413;356;364;413	ENSP00000418669:T413M;ENSP00000443601:T356M;ENSP00000426234:T413M	ENSP00000390233:T364M	T	-	2	0	SEPHS2	30363312	1.000000	0.71417	0.880000	0.34516	0.045000	0.14185	4.815000	0.62634	1.361000	0.45981	-0.176000	0.13171	ACG		TCGA-FB-A5VM-01A-11D-A32N-08	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	0	0	0	5	357	0	67	0	9.342221e-01	0	354	0	67	2	0	7.709763e-01	0	741	1	455	8	1	0.934703	6	349	0	67	2		0	0	0	0	67	2	-5.034304	1	0	0	0		1	1	2	3	2.039724	0	0.280000	1.920000	0.285005	0.100000	0.030000	1.000000	0.100000	0.151247	0.100000	0	0.060000	0.170000
PHKB	5257	broad.mit.edu	37	16	47683068	47683068	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:47683068G>A	ENST00000323584.5	+	18	1774	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N	PHKB_ENST00000566044.1_Missense_Mutation_p.D577N|PHKB_ENST00000299167.8_Missense_Mutation_p.D584N|PHKB_ENST00000455779.1_Missense_Mutation_p.D577N	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta			41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)			CGACCTAAGTGATTTCTACAT	0.343000																								0							SO:0001583	missense			ENST00000323584.5	1	1	hg19	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512079	0.96402	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.91180	-2.8;-2.8	5.89	5.89	0.94794	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95278	0.8383	10	0.59425	D	0.04	-29.7077	19.8459	0.96707	0.0:0.0:1.0:0.0	.	584;577	Q93100;Q93100-4	KPBB_HUMAN;.	N	577;577;584	ENSP00000414345:D577N;ENSP00000313504:D584N	ENSP00000299167:D577N	D	+	1	0	PHKB	46240569	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.037000	0.93765	2.788000	0.95919	0.585000	0.79938	GAT		TCGA-FB-A5VM-01A-11D-A32N-08	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1	1	0	1	53	338	0	63	1	3.548848e-01	3	6	0	63	2		0	0	0	0	0	2	1	1.000000	54	337	0	63	2		0	0	0	0	63	2	-3.319021	1	1	0	0		1	1	2	3	2.039724	0	0.280000	1.920000	0.285005	0.970000	0.740000	1.000000	1.000000	0.943014	0.970000	1	0.850000	1.000000
PARD6A	50855	broad.mit.edu	37	16	67695975	67695975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:67695975C>T	ENST00000219255.3	+	3	546	c.466C>T	c.(466-468)Cga>Tga	p.R156*	ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000393919.4_5'Flank|PARD6A_ENST00000602551.1_Nonsense_Mutation_p.R126*|ACD_ENST00000219251.8_5'Flank|PARD6A_ENST00000458121.2_Nonsense_Mutation_p.R155*			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha			6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)			TGAGACCCACCGACGGGTGCG	0.647000																								0							SO:0001587	stop_gained			ENST00000219255.3	0	1	hg19	CCDS10843.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342839	0.82022	.	.	ENSG00000102981	ENST00000458121;ENST00000219255	.	.	.	5.07	4.1	0.47936	.	0.073470	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4892	11.7101	0.51620	0.3209:0.6791:0.0:0.0	.	.	.	.	X	155;156	.	ENSP00000219255:R156X	R	+	1	2	PARD6A	66253476	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	2.149000	0.42244	1.091000	0.41335	0.563000	0.77884	CGA		TCGA-FB-A5VM-01A-11D-A32N-08	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2	1	0	1	62	420	0	109	1	6.946017e-01	3	15	0	109	2		0	0	0	0	0	2	1	1.000000	62	415	0	108	2		0	0	0	0	109	2	-3.075766	1	1	0	0		1	1	2	3	2.057540	0	0.280000	1.920000	0.287975	0.930000	0.720000	1.000000	1.000000	0.921165	0.930000	1	0.820000	1.000000
LLGL1	3996	broad.mit.edu	37	17	18138848	18138848	+	Missense_Mutation	SNP	C	C	T	rs141275484		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:18138848C>T	ENST00000316843.4	+	11	1445	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)			21	all_neural(463;0.228)				CTGCTGCTGACGGGGTAGGTG	0.652000																								0							SO:0001583	missense			ENST00000316843.4	0	1	hg19	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090348	0.76756	0.0	1.16E-4	ENSG00000131899	ENST00000316843	T	0.33216	1.42	5.01	5.01	0.66863	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);	0.090164	0.85682	D	0.000000	T	0.66867	0.2833	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76094	-0.3085	10	0.87932	D	0	-27.9792	17.6696	0.88213	0.0:1.0:0.0:0.0	.	450	Q15334	L2GL1_HUMAN	M	450	ENSP00000321537:T450M	ENSP00000321537:T450M	T	+	2	0	LLGL1	18079573	1.000000	0.71417	0.963000	0.40424	0.227000	0.25037	7.487000	0.81328	2.776000	0.95493	0.650000	0.86243	ACG		TCGA-FB-A5VM-01A-11D-A32N-08	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3	0	0	0	4	247	0	67	0	1.171722e-02	0	8	0	67	2		0	0	0	0	0	2	1	0.886315	4	242	0	67	2		0	0	0	0	67	2	-5.130001	1	1	121404	2	32	1	0	1	1	1.780231	1	0.280000	1.920000	0.162791	0.100000	0.030000	0.230000	0.100000	0.118915	0.100000	0	0.060000	0.170000
TAOK1	57551	broad.mit.edu	37	17	27807459	27807459	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:27807459A>T	ENST00000261716.3	+	7	1042	c.523A>T	c.(523-525)Atg>Ttg	p.M175L	TAOK1_ENST00000536202.1_Missense_Mutation_p.M175L	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1			28			Colorectal(6;0.198)		CTCTGCTTCCATGGCATCACC	0.418000																								0							SO:0001583	missense			ENST00000261716.3	0	1	hg19	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610191	0.46527	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.63417	-0.04;-0.04	5.21	5.21	0.72293	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.081007	0.85682	D	0.000000	T	0.39226	0.1070	N	0.02973	-0.45	0.42825	D	0.994006	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.001;0.001	T	0.27640	-1.0068	10	0.31617	T	0.26	.	15.3559	0.74425	1.0:0.0:0.0:0.0	.	175;1;175	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	L	175	ENSP00000261716:M175L;ENSP00000438819:M175L	ENSP00000261716:M175L	M	+	1	0	TAOK1	24831585	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.169000	0.77578	2.100000	0.63781	0.477000	0.44152	ATG		TCGA-FB-A5VM-01A-11D-A32N-08	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	0	0	0	4	169	0	35		0	0	0	0	35	2		0	0	0	0	0	2	0	0.887186	1	169	0	34	2		0	0	0	0	35	2	-6.453829	1	0	0	0		1	1	2	3	2.067579	0	0.280000	1.920000	0.288959	0.190000	0.060000	1.000000	0.170000	0.261635	0.190000	0	0.110000	0.330000
XYLT2	64132	broad.mit.edu	37	17	48431870	48431870	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:48431870G>A	ENST00000017003.2	+	3	779	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	XYLT2_ENST00000507602.1_Missense_Mutation_p.A244T	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II			12	Breast(11;7.18e-19)				TCACGGCCGCGCCATCCGCCA	0.612000																								0							SO:0001583	missense			ENST00000017003.2	0	1	hg19	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813933	0.90790	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.11169	2.8;2.8	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.31081	-0.9956	10	0.54805	T	0.06	-17.8105	17.6496	0.88159	0.0:0.0:1.0:0.0	.	244	Q9H1B5	XYLT2_HUMAN	T	244	ENSP00000017003:A244T;ENSP00000426501:A244T	ENSP00000017003:A244T	A	+	1	0	XYLT2	45786869	1.000000	0.71417	0.919000	0.36401	0.568000	0.35870	9.411000	0.97342	2.403000	0.81681	0.313000	0.20887	GCC		TCGA-FB-A5VM-01A-11D-A32N-08	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	0	0	0	5	226	0	47	0	6.786375e-02	0	16	0	47	2		0	0	0	0	0	2	1	0.938216	5	226	0	46	2		0	0	0	0	47	2	-6.312877	1	1	0	0		1	1	2	3	2.063493	0	0.280000	1.920000	0.288959	0.170000	0.060000	1.000000	0.150000	0.243598	0.170000	0	0.100000	0.290000
WSCD1	23302	broad.mit.edu	37	17	5984019	5984019	+	Missense_Mutation	SNP	G	G	A	rs148296936		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:5984019G>A	ENST00000574946.1	+	2	431	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000539421.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000317744.5_Missense_Mutation_p.R14Q|WSCD1_ENST00000574232.1_Missense_Mutation_p.R14Q			Q658N2	WSCD1_HUMAN	WSC domain containing 1			35					TTTCTCCGCCGAACACAGTTC	0.672000																								0							SO:0001583	missense			ENST00000574946.1	0	1	hg19	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	g	31	5.082163	0.94050	0.0	2.43E-4	ENSG00000179314	ENST00000317744;ENST00000539421	D;D	0.85955	-2.05;-2.05	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000008	D	0.89550	0.6747	L	0.47190	1.495	0.36291	D	0.856398	D	0.89917	1.0	D	0.76575	0.988	D	0.92691	0.6166	10	0.87932	D	0	-12.0492	15.3569	0.74434	0.0:0.0:1.0:0.0	.	14	Q658N2	WSCD1_HUMAN	Q	14	ENSP00000323087:R14Q;ENSP00000446032:R14Q	ENSP00000323087:R14Q	R	+	2	0	WSCD1	5924743	1.000000	0.71417	0.976000	0.42696	0.972000	0.66771	6.190000	0.72057	2.203000	0.70933	0.552000	0.68991	CGA		TCGA-FB-A5VM-01A-11D-A32N-08	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	0	0	0	4	224	1	52	0	0	0	1	1	52	2		0	0	0	0	0	2	0	0.007987	4	223	1	52	15		0	0	0	1	52	2	-3.858104	1	1	121070	25	45	1	0	1	1	1.767176	1	0.280000	1.920000	0.172223	0.110000	0.030000	0.260000	0.110000	0.132228	0.110000	0	0.070000	0.190000
ABCA10	10349	broad.mit.edu	37	17	67183986	67183986	+	Silent	SNP	C	C	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:67183986C>A	ENST00000269081.4	-	20	3075	c.2166G>T	c.(2164-2166)gtG>gtT	p.V722V	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10			81	Breast(10;6.95e-12)				TATTTCTTGTCACATGTATTT	0.348000																								0							SO:0001819	synonymous_variant			ENST00000269081.4	1	1	hg19	CCDS11684.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	1	0	1	30	178	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1.000000	29	176	0	32	2		0	0	0	0	32	2	-20.000000	1	1	0	0		1	1	2	3	2.063493	0	0.280000	1.920000	0.288959	0.990000	0.730000	1.000000	1.000000	0.958802	0.990000	1	0.880000	1.000000
DSG4	147409	broad.mit.edu	37	18	28991322	28991322	+	Missense_Mutation	SNP	G	G	A	rs145949758		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:28991322G>A	ENST00000308128.4	+	15	2401	c.2266G>A	c.(2266-2268)Gca>Aca	p.A756T	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.A775T	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4			70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)		ctcaggggccgcaAGGAAGAG	0.617000																								0							SO:0001583	missense			ENST00000308128.4	0	1	hg19	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	4.141	0.024420	0.08054	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.54479	0.57;0.57	5.87	-11.7	0.00046	.	.	.	.	.	T	0.18341	0.0440	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.04013	0.001;0.001	T	0.09640	-1.0665	9	0.17369	T	0.5	.	0.3831	0.00398	0.351:0.2389:0.1437:0.2663	.	775;756	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	T	756;775	ENSP00000311859:A756T;ENSP00000352785:A775T	ENSP00000311859:A756T	A	+	1	0	DSG4	27245320	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.460000	0.06720	-2.897000	0.00313	-0.905000	0.02835	GCA		TCGA-FB-A5VM-01A-11D-A32N-08	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	0	0	0	5	288	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	0.936938	5	286	0	77	2		0	0	0	0	79	2	-3.132460	1	1	0	0		1	0	1	1	1.765013	1	0.280000	1.920000	0.162791	0.110000	0.030000	0.230000	0.100000	0.122746	0.110000	0	0.060000	0.170000
GALNT1	2589	broad.mit.edu	37	18	33289706	33289706	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:33289706G>A	ENST00000269195.5	+	11	1755	c.1652G>A	c.(1651-1653)cGa>cAa	p.R551Q	GALNT1_ENST00000537549.1_Missense_Mutation_p.R491Q	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1			21					TGGCTTCTTCGAAACGTCACC	0.453000																								0							SO:0001583	missense			ENST00000269195.5	1	1	hg19	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767083	0.49574	0.0	1.16E-4	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.78003	-1.14;-1.14	5.59	5.59	0.84812	Ricin B-related lectin (1);Ricin B lectin (2);	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	N	0.12182	0.205	0.80722	D	1	B	0.18166	0.026	B	0.06405	0.002	T	0.59558	-0.7432	10	0.41790	T	0.15	.	17.0846	0.86608	0.0:0.0:1.0:0.0	.	551	Q10472	GALT1_HUMAN	Q	551;551;491	ENSP00000269195:R551Q;ENSP00000440910:R491Q	ENSP00000269195:R551Q	R	+	2	0	GALNT1	31543704	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.556000	0.98127	2.622000	0.88805	0.637000	0.83480	CGA		TCGA-FB-A5VM-01A-11D-A32N-08	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	1	0	1	29	153	0	40	1	9.996585e-01	33	36	0	40	2		0	0	0	0	0	2	1	1.000000	30	153	0	40	2		0	0	0	0	40	2	-20.000000	1	1	121412	8	36	1	0	1	1	1.765013	1	0.280000	1.920000	0.162791	0.870000	0.640000	1.000000	0.950000	0.866561	0.870000	1	0.760000	0.960000
COL5A3	50509	broad.mit.edu	37	19	10071228	10071228	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:10071228C>T	ENST00000264828.3	-	67	5182	c.5097G>A	c.(5095-5097)cgG>cgA	p.R1699R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3			116			Epithelial(33;7.11e-05)		TCTGTCCTTTCCGGAGCTGTC	0.587000																								0							SO:0001819	synonymous_variant			ENST00000264828.3	1	1	hg19	CCDS12222.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	1	0	1	95	550	0	128	0	1	1	147	0	128	2		0	0	0	0	0	2	1	1.000000	95	544	0	127	2		0	0	0	0	128	2	-20.000000	1	1	0	0		1	1	2	3	2.072738	0	0.280000	1.920000	0.289941	0.990000	0.870000	1.000000	1.000000	0.987248	0.990000	1	0.970000	1.000000
CIC	23152	broad.mit.edu	37	19	42799006	42799006	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:42799006A>G	ENST00000575354.2	+	20	4530	c.4490A>G	c.(4489-4491)tAt>tGt	p.Y1497C	CIC_ENST00000160740.3_Missense_Mutation_p.Y1495C|CIC_ENST00000572681.2_Missense_Mutation_p.Y2403C	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor			82		Prostate(69;0.00682)			CAGGCCCGCTATGCAGACATC	0.587000			Mis, F, S		oligodendroglioma										Rec	yes		19	19q13.2	23152	capicua homolog		O	0							SO:0001583	missense			ENST00000575354.2	1	1	hg19	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155719	0.57259	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	3.45	0.39498	.	.	.	.	.	T	0.56543	0.1992	L	0.29908	0.895	0.42414	D	0.992613	D	0.69078	0.997	D	0.66847	0.947	T	0.58476	-0.7630	8	0.87932	D	0	-2.7629	9.5983	0.39587	0.8231:0.1768:0.0:0.0	.	1497	Q96RK0	CIC_HUMAN	C	1497	.	ENSP00000160740:Y1497C	Y	+	2	0	CIC	47490846	1.000000	0.71417	0.965000	0.40720	0.996000	0.88848	4.776000	0.62354	0.845000	0.35118	0.402000	0.26972	TAT		TCGA-FB-A5VM-01A-11D-A32N-08	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2	1	0	1	55	487	0	140	1	9.999964e-01	52	108	0	140	2		0	0	0	0	0	2	1	1.000000	54	480	0	140	2		0	0	0	0	140	2	-20.000000	1	1	121408	2	31	1	1	2	3	2.054689	0	0.280000	1.920000	0.286988	0.730000	0.560000	1.000000	0.720000	0.753481	0.730000	0	0.640000	0.860000
KCNN4	3783	broad.mit.edu	37	19	44280710	44280710	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:44280710G>C	ENST00000262888.3	-	2	633	c.238C>G	c.(238-240)Cat>Gat	p.H80D		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4			15		Prostate(69;0.0352)		Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	TCTTTGGCATGAAAGGCCACG	0.592000																								0							SO:0001583	missense			ENST00000262888.3	1	1	hg19	CCDS12630.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.48|17.48	3.400039|3.400039	0.62177|0.62177	.|.	.|.	ENSG00000104783|ENSG00000104783	ENST00000262888|ENST00000407385	D|.	0.99907|.	-7.79|.	2.95|2.95	2.95|2.95	0.34219|0.34219	Potassium channel, calcium-activated, SK, conserved region (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.72269|.	0.3439|.	M|M	0.73962|0.73962	2.25|2.25	0.54753|0.54753	D|D	0.999989|0.999989	D|.	0.61697|.	0.99|.	P|.	0.62089|.	0.898|.	T|.	0.75969|.	-0.3130|.	10|.	0.87932|0.62326	D|D	0|0.03	-18.4681|-18.4681	11.8767|11.8767	0.52552|0.52552	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	80|.	O15554|.	KCNN4_HUMAN|.	D|X	80|18	ENSP00000262888:H80D|.	ENSP00000262888:H80D|ENSP00000384427:S18X	H|S	-|-	1|2	0|0	KCNN4|KCNN4	48972550|48972550	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.782000|0.782000	0.44232|0.44232	8.720000|8.720000	0.91442|0.91442	1.711000|1.711000	0.51337|0.51337	0.549000|0.549000	0.68633|0.68633	CAT|TCA		TCGA-FB-A5VM-01A-11D-A32N-08	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	1	0	1	32	227	0	53	1	9.999506e-01	52	59	0	53	2		0	0	0	0	0	2	1	1.000000	31	224	0	51	2		0	0	0	0	53	2	-20.000000	1	1	0	0		1	1	2	3	2.072191	0	0.280000	1.920000	0.289941	0.910000	0.630000	1.000000	1.000000	0.891716	0.910000	1	0.760000	1.000000
LAIR1	3903	broad.mit.edu	37	19	54872731	54872731	+	Silent	SNP	C	C	T	rs140141368	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:54872731C>T	ENST00000391742.2	-	3	308	c.156G>A	c.(154-156)ccG>ccA	p.P52P	LAIR1_ENST00000474878.1_Silent_p.P51P|LAIR1_ENST00000313038.6_Silent_p.P45P|LAIR1_ENST00000434277.2_Silent_p.P51P|LAIR1_ENST00000348231.4_Silent_p.P52P|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000391743.3_Silent_p.P34P			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1			26	Ovarian(34;0.19)				GAACCCCAACCGGGCCCCGGC	0.567000																								0							SO:0001819	synonymous_variant			ENST00000391742.2	1	0	hg19	CCDS12891.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1	1	0	1	103	565	0	134	0	9.971734e-01	0	50	0	134	2		0	0	0	0	0	2	1	1.000000	102	556	0	134	2		0	0	0	0	134	2	-2.967176	1	1	121412	56	52	1	1	2	3	2.065357	0	0.280000	1.920000	0.288959	0.990000	0.920000	1.000000	1.000000	0.995009	0.990000	1	0.990000	1.000000
PEG3	5178	broad.mit.edu	37	19	57335031	57335031	+	Silent	SNP	G	G	A	rs146592671	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:57335031G>A	ENST00000326441.9	-	5	774	c.411C>T	c.(409-411)gaC>gaT	p.D137D	PEG3_ENST00000598410.1_Silent_p.D11D|PEG3_ENST00000594706.1_5'Flank|PEG3_ENST00000423103.2_Silent_p.D137D|ZIM2_ENST00000599935.1_Silent_p.D11D|ZIM2_ENST00000593931.1_Silent_p.D11D|ZIM2_ENST00000593711.1_Silent_p.D11D|PEG3_ENST00000593695.1_Silent_p.D11D|ZIM2_ENST00000601070.1_Silent_p.D11D|ZIM2_ENST00000391708.3_Silent_p.D11D|ZIM2_ENST00000221722.5_Silent_p.D11D	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3			170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)			CGCTGGTCACGTCACTGTTGT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000326441.9	1	0	hg19	CCDS12948.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	1	0	0	50	348	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1.000000	50	336	0	84	2		0	0	0	0	85	2	-7.261781	1	1	121412	63	51	1	1	2	3	2.065357	0	0.280000	1.920000	0.288959	0.910000	0.690000	1.000000	1.000000	0.905747	0.910000	1	0.790000	1.000000
INTS3	65123	broad.mit.edu	37	1	153723618	153723618	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:153723618C>T	ENST00000318967.2	+	7	1200	c.632C>T	c.(631-633)aCg>aTg	p.T211M	INTS3_ENST00000456435.1_Missense_Mutation_p.T5M|INTS3_ENST00000476843.1_3'UTR|RP11-216N14.9_ENST00000434575.1_RNA|snoU13_ENST00000458994.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.T211M|INTS3_ENST00000512605.1_Missense_Mutation_p.T5M|RP11-216N14.8_ENST00000453778.1_RNA	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3			38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		GCTGTTTACACGTACCTCCGC	0.567000																								0							SO:0001583	missense			ENST00000318967.2	1	1	hg19	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844025	0.91197	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.76414	0.3984	M	0.81341	2.54	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.985;0.994	T	0.79783	-0.1658	9	0.87932	D	0	.	15.7443	0.77926	0.0:1.0:0.0:0.0	.	5;212;211	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	M	211;5;211;5	.	ENSP00000318641:T211M	T	+	2	0	INTS3	151990242	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	7.039000	0.76544	2.570000	0.86706	0.555000	0.69702	ACG		TCGA-FB-A5VM-01A-11D-A32N-08	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	1	0	0	12	154	0	40	0	3.371862e-02	1	3	0	40	2		0	0	0	0	0	2	1	0.999228	12	154	0	40	2		0	0	0	0	40	2	-3.222033	1	1	121412	2	30	1	1	2	3	2.046586	0	0.280000	1.920000	0.285998	0.540000	0.290000	1.000000	0.510000	0.569947	0.540000	0	0.400000	0.720000
RAB25	57111	broad.mit.edu	37	1	156038083	156038083	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:156038083G>A	ENST00000361084.5	+	3	503	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family			5	Hepatocellular(266;0.158)|all_neural(408;0.195)				TGCAGTGGGGGCCCTCCTGGT	0.557000																								0							SO:0001583	missense			ENST00000361084.5	1	1	hg19	CCDS41413.1	.	.	.	.	.	.	.	.	.	.	G	35	5.595812	0.96602	.	.	ENSG00000132698	ENST00000361084	T	0.81163	-1.46	5.19	5.19	0.71726	Small GTP-binding protein domain (1);	0.106823	0.64402	D	0.000006	D	0.92851	0.7726	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94704	0.7886	10	0.87932	D	0	.	17.4443	0.87574	0.0:0.0:1.0:0.0	.	88	P57735	RAB25_HUMAN	T	88	ENSP00000354376:A88T	ENSP00000354376:A88T	A	+	1	0	RAB25	154304707	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.520000	0.98027	2.686000	0.91538	0.655000	0.94253	GCC		TCGA-FB-A5VM-01A-11D-A32N-08	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046185.1	1	0	1	96	501	0	121	1	1	146	207	0	121	2		0	0	0	0	0	2	1	1.000000	96	497	0	120	2		0	0	0	0	121	2	-20.000000	1	1	0	0		1	1	2	3	2.046586	0	0.280000	1.920000	0.285998	0.990000	0.950000	1.000000	1.000000	0.997448	0.990000	1	0.990000	1.000000
OLFML2B	25903	broad.mit.edu	37	1	161953822	161953822	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:161953822G>A	ENST00000294794.3	-	8	2319	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	OLFML2B_ENST00000367938.1_Silent_p.I115I|OLFML2B_ENST00000367940.2_Silent_p.I633I	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B			48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)		GGGCCGGGTAGATGAGCCATA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000294794.3	1	1	hg19	CCDS1236.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	1	0	1	52	262	0	69	0	1	0	207	0	69	2		0	0	0	0	0	2	1	1.000000	50	258	0	68	2		0	0	0	0	69	2	-20.000000	1	1	0	0		1	1	2	3	2.046641	0	0.280000	1.920000	0.285998	0.990000	0.910000	1.000000	1.000000	0.994890	0.990000	1	0.990000	1.000000
PLA2G4A	5321	broad.mit.edu	37	1	186916023	186916023	+	Silent	SNP	C	C	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:186916023C>A	ENST00000367466.3	+	12	1346	c.1194C>A	c.(1192-1194)tcC>tcA	p.S398S	PLA2G4A_ENST00000442353.2_Silent_p.S338S	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)			53				Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GTGCCTTTTCCATATTGTTCA	0.358000																								0							SO:0001819	synonymous_variant			ENST00000367466.3	1	1	hg19	CCDS1372.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	1	0	1	45	367	0	77	0	9.927503e-02	1	4	0	77	2		0	0	0	0	0	2	1	1.000000	44	363	0	75	2		0	0	0	0	77	2	-3.017764	1	1	0	0		1	1	2	3	2.046641	0	0.280000	1.920000	0.285998	0.790000	0.580000	1.000000	1.000000	0.803177	0.790000	0	0.680000	0.930000
B3GALT2	8707	broad.mit.edu	37	1	193149903	193149903	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:193149903T>C	ENST00000367434.4	-	2	1545	c.790A>G	c.(790-792)Aat>Gat	p.N264D	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2			16					AGTAACTTATTGATTAAATAT	0.388000																								0							SO:0001583	missense			ENST00000367434.4	0	1	hg19	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.985401	0.35036	.	.	ENSG00000162630	ENST00000367434	T	0.42513	0.97	5.42	4.5	0.54988	.	0.104621	0.64402	D	0.000003	T	0.24470	0.0593	N	0.04297	-0.235	0.25600	N	0.98661	B	0.14012	0.009	B	0.24848	0.056	T	0.13953	-1.0490	10	0.24483	T	0.36	.	15.5666	0.76298	0.0:0.0:0.8593:0.1407	.	264	O43825	B3GT2_HUMAN	D	264	ENSP00000356404:N264D	ENSP00000356404:N264D	N	-	1	0	B3GALT2	191416526	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.987000	0.49378	1.266000	0.44231	-0.173000	0.13275	AAT		TCGA-FB-A5VM-01A-11D-A32N-08	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	0	0	0	5	227	0	44	0	0	0	1	0	44	2		0	0	0	0	0	2	1	0.936790	5	225	0	44	2		0	0	0	0	44	2	-3.472347	1	1	0	0		1	1	2	3	2.046641	0	0.280000	1.920000	0.285998	0.170000	0.060000	1.000000	0.150000	0.221094	0.170000	0	0.100000	0.270000
CSMD2	114784	broad.mit.edu	37	1	34401481	34401481	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:34401481C>T	ENST00000373381.4	-	4	768	c.592G>A	c.(592-594)Ggt>Agt	p.G198S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2			246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)			ACCTTGTCACCGAGGTTGAAG	0.597000																								0							SO:0001583	missense			ENST00000373381.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	22.8	4.337261	0.81911	.	.	ENSG00000121904	ENST00000373381	T	0.72394	-0.65	5.27	5.27	0.74061	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.85579	0.5729	M	0.87971	2.92	0.80722	D	1	B;D	0.89917	0.241;1.0	B;D	0.65010	0.094;0.931	D	0.88169	0.2863	10	0.72032	D	0.01	.	17.8728	0.88816	0.0:1.0:0.0:0.0	.	158;198	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	198	ENSP00000362479:G198S	ENSP00000241312:G158S	G	-	1	0	CSMD2	34174068	1.000000	0.71417	0.575000	0.28536	0.940000	0.58332	7.733000	0.84916	2.439000	0.82584	0.563000	0.77884	GGT		TCGA-FB-A5VM-01A-11D-A32N-08	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	66	521	0	134		0	0	0	0	134	2		0	0	0	0	0	2	1	1.000000	66	520	0	134	2		0	0	0	0	134	2	-2.559126	1	1	121412	1	30	1	1	2	3	2.059604	0	0.280000	1.920000	0.287975	0.810000	0.630000	1.000000	0.810000	0.828594	0.810000	0	0.720000	0.940000
PTPRF	5792	broad.mit.edu	37	1	44069850	44069850	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:44069850G>A	ENST00000359947.4	+	16	3367	c.3027G>A	c.(3025-3027)ccG>ccA	p.P1009P	PTPRF_ENST00000438120.1_Silent_p.P1000P|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.P1009P|PTPRF_ENST00000372413.3_Silent_p.P1000P|PTPRF_ENST00000422171.2_Silent_p.P357P	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	p.P999P(1)		72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			GGACCATGCCGGTGGAGCAAG	0.622000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000359947.4	0	1	hg19	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.011|0.011	-1.698940|-1.698940	0.00725|0.00725	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000414879|ENST00000429895	.|.	.|.	.|.	4.92|4.92	-9.55|-9.55	0.00569|0.00569	.|.	.|.	.|.	.|.	.|.	T|T	0.32164|0.32164	0.0820|0.0820	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39292|0.39292	-0.9621|-0.9621	4|4	.|.	.|.	.|.	.|.	1.4878|1.4878	0.02451|0.02451	0.3792:0.1043:0.1405:0.376|0.3792:0.1043:0.1405:0.376	.|.	.|.	.|.	.|.	S|Q	423|655	.|.	.|.	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43842437|43842437	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.123000|0.123000	0.20343|0.20343	-3.041000|-3.041000	0.00632|0.00632	-1.978000|-1.978000	0.00993|0.00993	-4.209000|-4.209000	0.00009|0.00009	GGT|CGG		TCGA-FB-A5VM-01A-11D-A32N-08	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1	0	0	0	5	304	0	63	0	1.782789e-01	0	39	0	63	2		0	0	0	0	0	2	1	0.935879	5	300	0	63	2		0	0	0	0	63	2	-2.985697	1	1	121406	5	39	1	1	2	3	2.059604	0	0.280000	1.920000	0.287975	0.130000	0.040000	1.000000	0.120000	0.193679	0.130000	0	0.080000	0.210000
RAD54L	8438	broad.mit.edu	37	1	46739341	46739341	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:46739341G>A	ENST00000371975.4	+	14	2206	c.1532G>A	c.(1531-1533)cGt>cAt	p.R511H	RAD54L_ENST00000442598.1_Missense_Mutation_p.R511H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)			25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)			ACCCGAAGCCGTAGCAGTGAC	0.542000								Direct reversal of damage;Homologous recombination																0							SO:0001583	missense			ENST00000371975.4	0	1	hg19	CCDS532.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893653	0.52121	0.0	1.16E-4	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	T;T	0.75367	-0.93;-0.93	4.94	2.99	0.34606	Helicase, C-terminal (1);	0.260402	0.43260	D	0.000586	T	0.55033	0.1895	N	0.17564	0.495	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.0	T	0.52328	-0.8590	10	0.45353	T	0.12	0.0048	7.8659	0.29537	0.0986:0.3489:0.5525:0.0	.	331;511	G3V1N0;Q92698	.;RAD54_HUMAN	H	511;511;331	ENSP00000396113:R511H;ENSP00000361043:R511H	ENSP00000361043:R511H	R	+	2	0	RAD54L	46511928	1.000000	0.71417	0.888000	0.34837	0.852000	0.48524	4.373000	0.59537	1.341000	0.45600	-0.259000	0.10710	CGT		TCGA-FB-A5VM-01A-11D-A32N-08	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	0	0	0	4	159	0	23	0	3.542871e-01	0	41	0	23	2		0	0	0	0	0	2	1	0.886949	4	156	0	23	2		0	0	0	0	23	2	-3.661016	1	1	121412	6	37	1	1	2	3	2.059604	0	0.280000	1.920000	0.287975	0.200000	0.060000	1.000000	0.180000	0.266042	0.200000	0	0.120000	0.340000
LRRC40	55631	broad.mit.edu	37	1	70641617	70641617	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:70641617G>C	ENST00000370952.3	-	7	932	c.853C>G	c.(853-855)Ctt>Gtt	p.L285V		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40			27					AGATGTTTAAGATGTTCTGCC	0.348000																								0							SO:0001583	missense			ENST00000370952.3	1	1	hg19	CCDS646.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350555	0.61183	.	.	ENSG00000066557	ENST00000370952	T	0.61510	0.1	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.55481	1.735	0.53688	D	0.999978	D	0.67145	0.996	D	0.65573	0.936	T	0.56056	-0.8042	10	0.22706	T	0.39	.	18.9046	0.92455	0.0:0.0:1.0:0.0	.	285	Q9H9A6	LRC40_HUMAN	V	285	ENSP00000359990:L285V	ENSP00000359990:L285V	L	-	1	0	LRRC40	70414205	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	6.021000	0.70832	2.567000	0.86603	0.585000	0.79938	CTT		TCGA-FB-A5VM-01A-11D-A32N-08	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	1	0	0	15	229	0	40	1	9.308925e-02	2	6	0	40	2		0	0	0	0	0	2	1	0.999871	15	225	0	40	2		0	0	0	0	40	2	-5.705470	1	1	0	0		1	1	2	3	2.059604	0	0.280000	1.920000	0.287975	0.460000	0.260000	1.000000	0.440000	0.499453	0.460000	0	0.350000	0.610000
NEGR1	257194	broad.mit.edu	37	1	71873147	71873147	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:71873147C>T	ENST00000357731.5	-	7	1286	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	NEGR1_ENST00000306821.3_Silent_p.K221K|ZRANB2-AS2_ENST00000590186.1_RNA|ZRANB2-AS2_ENST00000430605.1_RNA|ZRANB2-AS2_ENST00000608579.1_RNA|ZRANB2-AS2_ENST00000587306.1_RNA|ZRANB2-AS2_ENST00000585499.1_RNA|ZRANB2-AS2_ENST00000587066.1_RNA|ZRANB2-AS2_ENST00000585415.1_RNA|ZRANB2-AS2_ENST00000586006.1_RNA|NEGR1_ENST00000434200.1_Silent_p.K303K	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1			32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)			GAATGGCATTCTTCAGGTAGA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000357731.5	1	1	hg19	CCDS661.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	1	0	1	30	176	0	33	0	6.128608e-02	0	3	0	33	2		0	0	0	0	0	2	1	1.000000	29	174	0	32	2		0	0	0	0	33	2	-20.000000	1	1	0	0		1	1	2	3	2.059604	0	0.280000	1.920000	0.287975	0.990000	0.740000	1.000000	1.000000	0.961030	0.990000	1	0.890000	1.000000
CASS4	57091	broad.mit.edu	37	20	55012332	55012332	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:55012332G>T	ENST00000360314.3	+	3	374	c.149G>T	c.(148-150)gGt>gTt	p.G50V	CASS4_ENST00000371336.3_Missense_Mutation_p.G50V|CASS4_ENST00000434344.1_Missense_Mutation_p.G50V	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4			54					GAAAGCGAGGGTTGGTGGAAG	0.602000																								0							SO:0001583	missense			ENST00000360314.3	1	1	hg19	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274043	0.80580	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.74737	-0.87;-0.87;-0.87	5.71	5.71	0.89125	Src homology-3 domain (4);	0.051653	0.85682	D	0.000000	D	0.91586	0.7342	H	0.96604	3.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.999	D	0.93821	0.7119	10	0.87932	D	0	-42.9102	19.8625	0.96789	0.0:0.0:1.0:0.0	.	50;50;50;50	B4DII4;Q9NQ75-3;Q9NQ75-2;Q9NQ75	.;.;.;CASS4_HUMAN	V	50	ENSP00000353462:G50V;ENSP00000360387:G50V;ENSP00000410027:G50V	ENSP00000353462:G50V	G	+	2	0	CASS4	54445739	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.431000	0.80335	2.689000	0.91719	0.655000	0.94253	GGT		TCGA-FB-A5VM-01A-11D-A32N-08	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	1	0	0	44	408	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1.000000	44	406	0	73	2		0	0	0	0	75	2	-20.000000	1	1	0	0		1	1	2	3	2.320304	1	0.280000	1.920000	0.368421	0.790000	0.580000	1.000000	1.000000	0.801303	0.790000	0	0.680000	0.910000
ZBP1	81030	broad.mit.edu	37	20	56186849	56186849	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:56186849T>G	ENST00000371173.3	-	6	985	c.808A>C	c.(808-810)Aat>Cat	p.N270H	ZBP1_ENST00000340462.4_Missense_Mutation_p.N247H|ZBP1_ENST00000343535.4_Missense_Mutation_p.N270H|ZBP1_ENST00000395822.3_Missense_Mutation_p.N195H	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1			27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		CTCATCTCATTGCTGTGTCCC	0.632000																								0							SO:0001583	missense			ENST00000371173.3	1	1	hg19	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.216027	0.39201	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535	T;T;T;T	0.23348	2.29;1.91;2.29;2.26	3.25	2.09	0.27110	.	0.365705	0.19940	N	0.102675	T	0.38904	0.1058	L	0.52573	1.65	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.07233	-1.0783	10	0.87932	D	0	-23.1631	6.3696	0.21473	0.0:0.0:0.2548:0.7452	.	270;195;270	A2RRL9;A2A2F7;Q9H171	.;.;ZBP1_HUMAN	H	270;195;247;270;270	ENSP00000360215:N270H;ENSP00000379167:N195H;ENSP00000344954:N247H;ENSP00000340584:N270H	ENSP00000344954:N247H	N	-	1	0	ZBP1	55620255	0.552000	0.26505	0.002000	0.10522	0.036000	0.12997	1.422000	0.34826	0.592000	0.29728	0.454000	0.30748	AAT		TCGA-FB-A5VM-01A-11D-A32N-08	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	1	0	1	16	113	0	27	0	2.296670e-01	1	6	0	27	2		0	0	0	0	0	2	1	0.999943	16	110	0	27	2		0	0	0	0	27	2	-20.000000	1	1	0	0		1	1	2	3	2.320304	1	0.280000	1.920000	0.368421	0.990000	0.620000	1.000000	1.000000	0.927307	0.990000	1	0.800000	1.000000
LRRN4	164312	broad.mit.edu	37	20	6021941	6021941	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:6021941G>A	ENST00000378858.4	-	5	2174	c.1950C>T	c.(1948-1950)tgC>tgT	p.C650C		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4			27					CCGCCAGCACGCACACGCGGT	0.721000																								0							SO:0001819	synonymous_variant			ENST00000378858.4	0	1	hg19	CCDS13097.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	0	0	0	4	184	0	40	0	0	0	1	0	40	2		0	0	0	0	0	2	1	0.888735	4	182	0	39	2		0	0	0	0	40	2	-6.023351	1	1	119864	1	26	1	1	2	3	2.046593	0	0.280000	1.920000	0.285998	0.170000	0.050000	1.000000	0.150000	0.225224	0.170000	0	0.100000	0.290000
LAMA5	3911	broad.mit.edu	37	20	60921843	60921843	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:60921843G>A	ENST00000252999.3	-	8	1152	c.1086C>T	c.(1084-1086)taC>taT	p.Y362Y	LAMA5_ENST00000370692.3_Silent_p.Y362Y|LAMA5_ENST00000370677.3_Silent_p.Y362Y	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5			81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		TGGCATGGCCGTAGCAGTTAC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000252999.3	0	1	hg19	CCDS33502.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	0	0	0	4	143	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	0.889833	4	142	0	32	2		0	0	0	0	34	2	-6.333987	1	1	120876	1	25	1	1	2	3	2.320304	1	0.280000	1.920000	0.368421	0.240000	0.080000	0.520000	0.210000	0.270078	0.240000	0	0.140000	0.380000
SUMO3	6612	broad.mit.edu	37	21	46229016	46229016	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr21:46229016C>T	ENST00000397898.3	-	3	250	c.168G>A	c.(166-168)caG>caA	p.Q56Q	SUMO3_ENST00000411651.2_Silent_p.Q94Q|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000332859.6_Silent_p.Q56Q|SUMO3_ENST00000397893.3_Silent_p.Q56Q					small ubiquitin-like modifier 3			1					TGAATCTGATCTGCCTCATTG	0.532000																								0							SO:0001819	synonymous_variant			ENST00000397898.3	1	1	hg19																																																																																					TCGA-FB-A5VM-01A-11D-A32N-08	SUMO3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000206561.1	1	0	1	31	217	0	59	1	1	119	278	0	59	2		0	0	0	0	0	2	1	1.000000	29	212	0	58	2		0	0	0	0	59	2	-14.372590	1	1	0	0		1	1	2	3	2.039265	0	0.280000	1.920000	0.284010	0.900000	0.630000	1.000000	1.000000	0.886855	0.900000	1	0.750000	1.000000
TNRC6B	23112	broad.mit.edu	37	22	40662850	40662850	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr22:40662850C>T	ENST00000454349.2	+	5	2827	c.2616C>T	c.(2614-2616)ccC>ccT	p.P872P	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Silent_p.P872P|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B			1					ATGAGGAACCCAGTGGTTGGG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000454349.2	1	1	hg19	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	9.556	1.117318	0.20795	.	.	ENSG00000100354	ENST00000446273	T	0.24538	1.85	5.46	5.46	0.80206	.	0.052766	0.85682	D	0.000000	T	0.34919	0.0914	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16217	-1.0410	7	0.72032	D	0.01	-4.2812	6.4872	0.22095	0.3133:0.6:0.0:0.0866	.	.	.	.	L	615	ENSP00000409429:P615L	ENSP00000409429:P615L	P	+	2	0	TNRC6B	38992796	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.325000	0.19628	2.561000	0.86390	0.561000	0.74099	CCA		TCGA-FB-A5VM-01A-11D-A32N-08	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	27	135	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1.000000	27	135	0	30	2		0	0	0	0	30	2	-3.393926	1	1	0	0		1	1	2	3	2.067918	0	0.280000	1.920000	0.289941	0.990000	0.830000	1.000000	1.000000	0.987568	0.990000	1	0.990000	1.000000
ACOXL	55289	broad.mit.edu	37	2	111556628	111556628	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:111556628C>T	ENST00000389811.4	+	7	722	c.498C>T	c.(496-498)aaC>aaT	p.N166N	ACOXL_ENST00000340561.4_Silent_p.N166N|ACOXL_ENST00000439055.1_Silent_p.N166N			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like			21					GGGATGAAAACGGAAGCTTGT	0.502000																								0							SO:0001819	synonymous_variant			ENST00000389811.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	8.179	0.793474	0.16327	0.0	1.16E-4	ENSG00000153093	ENST00000422487	.	.	.	5.35	-10.7	0.00240	.	.	.	.	.	T	0.61085	0.2319	.	.	.	0.45662	D	0.998582	.	.	.	.	.	.	T	0.77075	-0.2722	5	0.87932	D	0	-22.6667	9.5339	0.39211	0.0906:0.5713:0.0924:0.2458	.	.	.	.	M	18	.	ENSP00000404255:T18M	T	+	2	0	ACOXL	111273099	0.078000	0.21339	0.094000	0.20943	0.932000	0.56968	-1.471000	0.02344	-2.880000	0.00319	-0.961000	0.02630	ACG		TCGA-FB-A5VM-01A-11D-A32N-08	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	0	0	0	71	455	1	106	1	1.874666e-02	2	0	1	106	2		0	0	0	0	0	2	1	1.000000	71	451	1	105	17		0	0	0	1	106	2	-7.257158	1	1	121412	28	48	1	1	2	3	2.033904	0	0.280000	1.920000	0.284010	0.970000	0.770000	1.000000	1.000000	0.944940	0.970000	1	0.860000	1.000000
GPD2	2820	broad.mit.edu	37	2	157435503	157435503	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:157435503G>T	ENST00000310454.6	+	14	2242	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	GPD2_ENST00000438166.2_Missense_Mutation_p.D624Y|GPD2_ENST00000409674.1_Missense_Mutation_p.D624Y|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Missense_Mutation_p.D397Y	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)			22					ACTGCCTTCAGACATTGACAG	0.333000																								0							SO:0001583	missense			ENST00000310454.6	1	1	hg19	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669779	0.88348	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.79	5.79	0.91817	EF-hand-like domain (1);	0.042575	0.85682	D	0.000000	T	0.70876	0.3274	M	0.68593	2.085	0.80722	D	1	P	0.40398	0.716	P	0.45946	0.498	T	0.73212	-0.4054	10	0.87932	D	0	.	20.0308	0.97536	0.0:0.0:1.0:0.0	.	624	P43304	GPDM_HUMAN	Y	624;397;624;624	ENSP00000308610:D624Y;ENSP00000386484:D397Y;ENSP00000409708:D624Y;ENSP00000386425:D624Y	ENSP00000308610:D624Y	D	+	1	0	GPD2	157143749	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.845000	0.99498	2.732000	0.93576	0.585000	0.79938	GAC		TCGA-FB-A5VM-01A-11D-A32N-08	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3	1	0	0	35	400	0	94	1	1.375752e-01	2	6	0	94	2		0	0	0	0	0	2	1	1.000000	35	398	0	94	2		0	0	0	0	94	2	-10.278150	1	1	0	0		1	1	2	3	2.033904	0	0.280000	1.920000	0.284010	0.580000	0.410000	1.000000	0.570000	0.600148	0.580000	0	0.490000	0.690000
SCN3A	6328	broad.mit.edu	37	2	165953881	165953881	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:165953881C>A	ENST00000360093.3	-	23	4611	c.4120G>T	c.(4120-4122)Gac>Tac	p.D1374Y	SCN3A_ENST00000283254.7_Missense_Mutation_p.D1374Y|SCN3A_ENST00000409101.3_Missense_Mutation_p.D1325Y	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit			120				Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCACTAATGTCAAACATGTTA	0.423000																								0							SO:0001583	missense			ENST00000360093.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.01	2.705927	0.48412	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96522	-4.04;-4.04;-3.98;-3.8	5.72	1.94	0.25998	Ion transport (1);	0.992515	0.08199	N	0.982552	D	0.97470	0.9172	M	0.80332	2.49	0.80722	D	1	P;P;B;B;P	0.41910	0.764;0.642;0.25;0.25;0.722	P;B;B;B;P	0.58130	0.833;0.353;0.173;0.173;0.743	D	0.92897	0.6336	10	0.72032	D	0.01	.	6.9439	0.24508	0.0:0.6271:0.1154:0.2575	.	1374;1325;1325;1325;1374	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	Y	1374;1374;1325;1325	ENSP00000353206:D1374Y;ENSP00000283254:D1374Y;ENSP00000386726:D1325Y;ENSP00000403348:D1325Y	ENSP00000283254:D1374Y	D	-	1	0	SCN3A	165662127	1.000000	0.71417	0.488000	0.27440	0.504000	0.33889	1.422000	0.34826	0.149000	0.19098	-0.812000	0.03155	GAC		TCGA-FB-A5VM-01A-11D-A32N-08	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	39	247	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1.000000	38	242	0	51	2		0	0	0	0	51	2	-17.805170	1	1	0	0		1	1	2	3	2.033904	0	0.280000	1.920000	0.284010	0.980000	0.710000	1.000000	1.000000	0.938172	0.980000	1	0.840000	1.000000
AMOTL2	51421	broad.mit.edu	37	3	134090033	134090033	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:134090033G>A	ENST00000422605.2	-	2	409	c.243C>T	c.(241-243)ggC>ggT	p.G81G	AMOTL2_ENST00000511759.1_5'UTR|AMOTL2_ENST00000514516.1_Silent_p.G139G|AMOTL2_ENST00000513145.1_Silent_p.G81G|AMOTL2_ENST00000249883.5_Silent_p.G81G			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2			19					GGTTCTCACCGCCCTGGTGCT	0.677000																								0							SO:0001819	synonymous_variant			ENST00000422605.2	0	1	hg19																																																																																					TCGA-FB-A5VM-01A-11D-A32N-08	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	0	0	0	4	258	0	45	0	1.081150e-02	0	8	0	45	2		0	0	0	0	0	2	1	0.890180	4	257	0	45	2		0	0	0	0	45	2	-5.022657	1	1	121408	1	27	1	1	2	3	2.319513	1	0.280000	1.920000	0.368421	0.130000	0.040000	0.300000	0.120000	0.153189	0.130000	0	0.080000	0.220000
TRIM42	287015	broad.mit.edu	37	3	140401600	140401600	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:140401600G>A	ENST00000286349.3	+	2	829	c.638G>A	c.(637-639)cGt>cAt	p.R213H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	p.R213H(1)		69					CTGCACGGGCGTCTCACCAAG	0.612000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000286349.3	1	1	hg19	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215216	0.79352	.	.	ENSG00000155890	ENST00000286349	T	0.38722	1.12	5.2	4.32	0.51571	Zinc finger, RING/FYVE/PHD-type (1);	0.117429	0.35349	N	0.003274	T	0.46347	0.1388	L	0.52905	1.665	0.30123	N	0.805474	D	0.71674	0.998	P	0.54140	0.743	T	0.45366	-0.9266	10	0.35671	T	0.21	-16.8257	8.6972	0.34303	0.1016:0.0:0.8984:0.0	.	213	Q8IWZ5	TRI42_HUMAN	H	213	ENSP00000286349:R213H	ENSP00000286349:R213H	R	+	2	0	TRIM42	141884290	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.158000	0.42329	2.435000	0.82474	0.561000	0.74099	CGT		TCGA-FB-A5VM-01A-11D-A32N-08	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	1	0	1	76	569	0	91		0	0	0	0	91	2	1	1	97	639	1	634	6	1	1.000000	76	566	0	91	2		0	0	0	0	91	2	-20.000000	1	1	0	0		1	1	2	3	2.319513	1	0.280000	1.920000	0.368421	0.950000	0.760000	1.000000	1.000000	0.939293	0.950000	1	0.850000	1.000000
SPATA16	83893	broad.mit.edu	37	3	172643179	172643179	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:172643179T>G	ENST00000351008.3	-	7	1368	c.1185A>C	c.(1183-1185)aaA>aaC	p.K395N		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16			43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		TTTCCAAAAATTTTCCATCAT	0.408000																								0							SO:0001583	missense			ENST00000351008.3	1	0	hg19	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261858	0.59431	.	.	ENSG00000144962	ENST00000351008	T	0.24350	1.86	5.3	1.47	0.22746	.	0.075584	0.56097	D	0.000029	T	0.28234	0.0697	L	0.32530	0.975	0.27421	N	0.954285	D	0.54964	0.969	P	0.55455	0.776	T	0.09079	-1.0691	10	0.72032	D	0.01	-12.8705	8.3366	0.32219	0.0:0.2297:0.0:0.7703	.	395	Q9BXB7	SPT16_HUMAN	N	395	ENSP00000341765:K395N	ENSP00000341765:K395N	K	-	3	2	SPATA16	174125873	1.000000	0.71417	0.985000	0.45067	0.788000	0.44548	0.492000	0.22435	0.059000	0.16252	-0.371000	0.07208	AAA		TCGA-FB-A5VM-01A-11D-A32N-08	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	1	0	1	26	204	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1.000000	26	201	0	40	2		0	0	0	0	41	2	-11.834820	1	1	0	0		1	1	2	3	2.319513	1	0.280000	1.920000	0.368421	0.920000	0.620000	1.000000	1.000000	0.897307	0.920000	1	0.760000	1.000000
OR5K3	403277	broad.mit.edu	37	3	98109887	98109887	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:98109887A>G	ENST00000383695.1	+	1	378	c.378A>G	c.(376-378)atA>atG	p.I126M	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3			27					ATGTGGCCATATGCAACCCAC	0.478000																								0							SO:0001583	missense			ENST00000383695.1	1	1	hg19	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.056919	0.55325	.	.	ENSG00000206536	ENST00000383695	T	0.59083	0.29	5.15	-2.93	0.05598	GPCR, rhodopsin-like superfamily (1);	0.331813	0.21303	N	0.076767	T	0.80082	0.4558	H	0.98238	4.18	0.25262	N	0.98958	D	0.89917	1.0	D	0.97110	1.0	T	0.70894	-0.4748	10	0.87932	D	0	-61.4606	8.1546	0.31160	0.2367:0.5363:0.0:0.2271	.	126	A6NET4	OR5K3_HUMAN	M	126	ENSP00000373194:I126M	ENSP00000373194:I126M	I	+	3	3	OR5K3	99592577	0.004000	0.15560	0.808000	0.32385	0.947000	0.59692	-1.359000	0.02602	-0.708000	0.05015	0.491000	0.48974	ATA		TCGA-FB-A5VM-01A-11D-A32N-08	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1	1	0	1	144	500	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1.000000	144	495	0	92	2		0	0	0	0	94	2	-20.000000	1	1	121412	5	41	1	1	2	3	2.319513	1	0.280000	1.920000	0.368421	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
KIAA0922	23240	broad.mit.edu	37	4	154542991	154542991	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:154542991G>T	ENST00000409663.3	+	28	3898	c.3846G>T	c.(3844-3846)caG>caT	p.Q1282H	KIAA0922_ENST00000440693.1_Missense_Mutation_p.Q1199H|KIAA0922_ENST00000409959.3_Missense_Mutation_p.Q1283H	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922			63	all_hematologic(180;0.093)	Renal(120;0.118)			CTGCTGCCCAGAGAGAGGCAG	0.423000																								0							SO:0001583	missense			ENST00000409663.3	1	1	hg19	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	10.72	1.431059	0.25726	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.19394	2.42;2.15;2.42;2.15	5.16	3.08	0.35506	.	0.507289	0.20653	N	0.088171	T	0.28962	0.0719	L	0.43152	1.355	0.24200	N	0.995515	D;P;P	0.71674	0.998;0.925;0.877	P;P;P	0.62560	0.904;0.667;0.467	T	0.04053	-1.0981	10	0.31617	T	0.26	-3.8639	7.293	0.26376	0.1656:0.0:0.6948:0.1396	.	1199;1283;1282	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	H	1282;1199;1283;1060	ENSP00000386574:Q1282H;ENSP00000409663:Q1199H;ENSP00000386787:Q1283H;ENSP00000240487:Q1060H	ENSP00000240487:Q1060H	Q	+	3	2	KIAA0922	154762441	1.000000	0.71417	0.947000	0.38551	0.251000	0.25915	1.834000	0.39171	1.173000	0.42796	0.655000	0.94253	CAG		TCGA-FB-A5VM-01A-11D-A32N-08	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	1	0	1	21	156	0	38	1	7.546089e-01	4	18	0	38	2		0	0	0	0	0	2	1	0.999998	21	154	0	38	2		0	0	0	0	38	2	-20.000000	1	1	0	0		1	0	1	1	1.796882	1	0.280000	1.920000	0.174880	0.720000	0.470000	1.000000	1.000000	0.737916	0.720000	0	0.590000	0.880000
GABRB1	2560	broad.mit.edu	37	4	47163392	47163392	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:47163392T>C	ENST00000295454.3	+	4	659	c.367T>C	c.(367-369)Ttt>Ctt	p.F123L	GABRB1_ENST00000538619.1_Missense_Mutation_p.F53L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1			44				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGACACCTACTTTCTGAATGA	0.443000																								0							SO:0001583	missense			ENST00000295454.3	1	1	hg19	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.740563	0.89573	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	T;T;T	0.73363	-0.74;-0.74;-0.74	5.01	5.01	0.66863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000001	D	0.86163	0.5867	M	0.82193	2.58	0.58432	D	0.999997	D;D	0.62365	0.991;0.979	P;D	0.74023	0.86;0.982	D	0.87603	0.2498	10	0.54805	T	0.06	-13.1774	14.0523	0.64745	0.0:0.0:0.0:1.0	.	53;123	F5GXV5;P18505	.;GBRB1_HUMAN	L	90;123;53	ENSP00000426753:F90L;ENSP00000295454:F123L;ENSP00000440330:F53L	ENSP00000295454:F123L	F	+	1	0	GABRB1	46858149	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.109000	0.64355	0.528000	0.53228	TTT		TCGA-FB-A5VM-01A-11D-A32N-08	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1	1	0	1	71	501	0	124	0	0	0	1	0	124	2		0	0	0	0	0	2	1	1.000000	70	497	0	123	2		0	0	0	0	124	2	-20.000000	1	1	0	0		1	1	2	3	2.032823	0	0.280000	1.920000	0.282010	0.880000	0.700000	1.000000	1.000000	0.887677	0.880000	1	0.790000	1.000000
LRRC66	339977	broad.mit.edu	37	4	52860732	52860732	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:52860732G>A	ENST00000343457.3	-	4	2462	c.2456C>T	c.(2455-2457)cCg>cTg	p.P819L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66			58					GAACATGCCCGGAAACTCATC	0.463000																								0							SO:0001583	missense			ENST00000343457.3	0	1	hg19	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	1.908	-0.451422	0.04572	.	.	ENSG00000188993	ENST00000343457	T	0.33216	1.42	4.67	1.01	0.19927	.	0.968471	0.08482	N	0.939308	T	0.17066	0.0410	N	0.16656	0.425	0.09310	N	1	B	0.20550	0.046	B	0.13407	0.009	T	0.33163	-0.9879	10	0.18276	T	0.48	-0.8776	7.5126	0.27583	0.3337:0.0:0.6663:0.0	.	819	Q68CR7	LRC66_HUMAN	L	819	ENSP00000341944:P819L	ENSP00000341944:P819L	P	-	2	0	LRRC66	52555489	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.670000	0.25157	0.038000	0.15604	-1.556000	0.00890	CCG		TCGA-FB-A5VM-01A-11D-A32N-08	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	0	0	0	5	254	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	0.938138	5	254	0	40	2		0	0	0	0	40	2	-2.719341	1	1	120832	168	51	1	1	2	3	2.032823	0	0.280000	1.920000	0.282010	0.150000	0.050000	0.340000	0.140000	0.171248	0.150000	0	0.090000	0.230000
EVC	2121	broad.mit.edu	37	4	5798842	5798842	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:5798842G>A	ENST00000264956.6	+	14	2164	c.1980G>A	c.(1978-1980)acG>acA	p.T660T	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000382674.2_Silent_p.T660T	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome			28		Myeloproliferative disorder(84;0.117)			CCACCCTGACGCAGATGCGGC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000264956.6	1	1	hg19	CCDS3383.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1	1	0	1	41	258	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1.000000	41	257	0	55	2		0	0	0	0	55	2	-20.000000	1	1	121382	6	35	1	1	2	3	2.032823	0	0.280000	1.920000	0.282010	0.980000	0.720000	1.000000	1.000000	0.939380	0.980000	1	0.840000	1.000000
MTHFD2L	441024	broad.mit.edu	37	4	75041057	75041057	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:75041057G>A	ENST00000395759.2	+	3	415	c.388G>A	c.(388-390)Gta>Ata	p.V130I	MTHFD2L_ENST00000331145.6_Missense_Mutation_p.V72I|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.V72I|MTHFD2L_ENST00000433372.1_5'UTR	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like			8			all cancers(17;0.0101)|Lung(101;0.196)		ACTTTTGGACGTAACTGATCA	0.368000																								0							SO:0001583	missense			ENST00000395759.2	0	1	hg19	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	A	7.970	0.748962	0.15710	.	.	ENSG00000163738	ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T	0.29917	1.97;1.56;1.55;1.98	5.36	5.36	0.76844	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.213853	0.50627	N	0.000109	T	0.16642	0.0400	N	0.16201	0.385	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.08973	-1.0696	10	0.28530	T	0.3	-29.7782	6.9337	0.24455	0.8268:0.0:0.1732:0.0	.	130;72	Q9H903;Q9H903-3	MTD2L_HUMAN;.	I	130;72;72;72	ENSP00000379108:V130I;ENSP00000330982:V72I;ENSP00000352012:V72I;ENSP00000321984:V72I	ENSP00000321984:V72I	V	+	1	0	MTHFD2L	75259921	0.039000	0.19947	0.997000	0.53966	0.849000	0.48306	0.068000	0.14531	1.067000	0.40740	-0.268000	0.10319	GTA		TCGA-FB-A5VM-01A-11D-A32N-08	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	5	303	0	65	0	0	0	1	0	65	2		0	0	0	0	0	2	1	0.938036	5	303	0	63	2		0	0	0	0	65	2	-2.818194	1	1	121402	3	37	1	1	2	3	2.032823	0	0.280000	1.920000	0.282010	0.120000	0.040000	0.280000	0.120000	0.145941	0.120000	0	0.070000	0.190000
IBSP	3381	broad.mit.edu	37	4	88732603	88732603	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:88732603C>T	ENST00000226284.5	+	7	562	c.495C>T	c.(493-495)agC>agT	p.S165S		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	p.S165S(1)		21		Hepatocellular(203;0.114)			acgaagaaagcgaagcagaag	0.458000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000226284.5	1	1	hg19	CCDS3624.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2	1	0	0	17	105	0	25	0	1.046122e-01	0	4	0	25	2		0	0	0	0	0	2	1	0.999968	16	102	0	25	2		0	0	0	0	25	2	-10.221070	1	1	0	0		1	1	2	3	2.032823	0	0.280000	1.920000	0.282010	0.990000	0.620000	1.000000	1.000000	0.922257	0.990000	1	0.790000	1.000000
KLHL3	26249	broad.mit.edu	37	5	136997650	136997650	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:136997650A>G	ENST00000309755.4	-	7	1150	c.707T>C	c.(706-708)aTg>aCg	p.M236T	KLHL3_ENST00000508657.1_Missense_Mutation_p.M204T|KLHL3_ENST00000541417.1_Missense_Mutation_p.M116T|KLHL3_ENST00000394937.3_Missense_Mutation_p.M236T|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000506491.1_Missense_Mutation_p.M154T	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3			21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		GACATGTTCCATCAGCTTTGC	0.443000																								0							SO:0001583	missense			ENST00000309755.4	1	1	hg19	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.343183	0.82022	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755;ENST00000541417;ENST00000505853;ENST00000394937	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.99	4.99	0.66335	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.84037	0.5384	M	0.90650	3.135	0.80722	D	1	P;D;P;D;D	0.67145	0.858;0.996;0.848;0.996;0.976	B;D;P;D;D	0.68621	0.412;0.944;0.511;0.959;0.932	D	0.87765	0.2601	10	0.87932	D	0	.	15.1492	0.72684	1.0:0.0:0.0:0.0	.	5;196;204;236;236	B7Z6E2;D6RH21;Q9UH77-2;Q9UH77;Q8N4I8	.;.;.;KLHL3_HUMAN;.	T	154;204;236;116;196;236	ENSP00000424828:M154T;ENSP00000422099:M204T;ENSP00000312397:M236T;ENSP00000440319:M116T;ENSP00000426173:M196T;ENSP00000378395:M236T	ENSP00000312397:M236T	M	-	2	0	KLHL3	137025549	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.036000	0.93758	2.234000	0.73211	0.533000	0.62120	ATG		TCGA-FB-A5VM-01A-11D-A32N-08	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2	1	0	1	46	214	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1.000000	46	212	0	54	2		0	0	0	0	54	2	-20.000000	1	1	0	0		1	0	1	1	1.750197	1	0.280000	1.920000	0.162791	0.930000	0.750000	1.000000	0.990000	0.920271	0.930000	1	0.840000	0.980000
FAM105A	54491	broad.mit.edu	37	5	14610393	14610393	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:14610393C>T	ENST00000274217.3	+	8	1161	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	p.N347N(1)		11	Lung NSC(4;0.00592)				TGACCGAGAACGACCGCCACT	0.532000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000274217.3	1	1	hg19	CCDS3884.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	1	0	0	37	390	0	57	0	7.474746e-01	1	29	0	57	2		0	0	0	0	0	2	1	1.000000	36	380	0	55	2		0	0	0	0	57	2	-3.318794	1	1	121410	2	30	1	1	2	3	2.325338	1	0.280000	1.920000	0.368421	0.700000	0.500000	0.930000	0.700000	0.717923	0.700000	0	0.600000	0.830000
ADAMTS16	170690	broad.mit.edu	37	5	5235183	5235183	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:5235183A>G	ENST00000274181.7	+	13	2045	c.1907A>G	c.(1906-1908)aAc>aGc	p.N636S	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16			107					AAGCTCTGCAACAGTCAGAAA	0.502000																								0							SO:0001583	missense			ENST00000274181.7	1	1	hg19	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.595341	0.66219	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.05319	3.46	4.67	2.19	0.27852	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	M	0.80422	2.495	0.58432	D	0.999993	P;P	0.50528	0.805;0.936	P;P	0.55713	0.492;0.782	T	0.00423	-1.1748	10	0.56958	D	0.05	.	6.7912	0.23701	0.7648:0.1522:0.083:0.0	.	636;636	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	S	636	ENSP00000274181:N636S	ENSP00000274181:N636S	N	+	2	0	ADAMTS16	5288183	1.000000	0.71417	0.986000	0.45419	0.793000	0.44817	4.860000	0.62961	0.243000	0.21327	0.533000	0.62120	AAC		TCGA-FB-A5VM-01A-11D-A32N-08	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	1	0	0	39	393	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1.000000	39	388	0	70	2		0	0	0	0	70	2	-12.541270	1	1	0	0		1	1	2	3	2.325338	1	0.280000	1.920000	0.368421	0.730000	0.530000	0.960000	0.730000	0.746613	0.730000	0	0.620000	0.860000
SLC16A10	117247	broad.mit.edu	37	6	111493921	111493921	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:111493921G>T	ENST00000368851.5	+	2	542	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W	SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10			12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TCTCTCCATGGGGATGATTTT	0.428000																								0							SO:0001583	missense			ENST00000368851.5	1	1	hg19	CCDS5089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.741282|4.741282	0.89573|0.89573	.|.	.|.	ENSG00000112394|ENSG00000112394	ENST00000535637;ENST00000368851;ENST00000368853|ENST00000419619;ENST00000439288	T|.	0.56103|.	0.48|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Major facilitator superfamily domain, general substrate transporter (1);|.	0.092388|.	0.85682|.	D|.	0.000000|.	D|D	0.85344|0.85344	0.5675|0.5675	M|M	0.92649|0.92649	3.33|3.33	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.88182|0.88182	0.2871|0.2871	10|5	0.87932|.	D|.	0|.	.|.	19.7204|19.7204	0.96139|0.96139	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	123;123|.	Q8TF71;Q05BR4|.	MOT10_HUMAN;.|.	W|C	123;123;14|8	ENSP00000357844:G123W|.	ENSP00000357844:G123W|.	G|W	+|+	1|3	0|0	SLC16A10|SLC16A10	111600614|111600614	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.414000|9.414000	0.97362|0.97362	2.662000|2.662000	0.90505|0.90505	0.491000|0.491000	0.48974|0.48974	GGG|TGG		TCGA-FB-A5VM-01A-11D-A32N-08	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2	1	0	0	22	360	0	80	0	2.051674e-02	0	4	0	80	2		0	0	0	0	0	2	1	0.999999	23	355	0	80	2		0	0	0	0	80	2	-2.389317	0	1	0	0		1	1	2	3	2.035096	0	0.280000	1.920000	0.284010	0.420000	0.260000	1.000000	0.410000	0.443874	0.420000	0	0.330000	0.520000
HIVEP1	3096	broad.mit.edu	37	6	12121002	12121002	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:12121002T>C	ENST00000379388.2	+	4	1306	c.974T>C	c.(973-975)gTt>gCt	p.V325A		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1			90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)			CTTGAACAGGTTTATAATATA	0.423000																								0							SO:0001583	missense			ENST00000379388.2	1	1	hg19	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.762438	0.31228	.	.	ENSG00000095951	ENST00000379388	T	0.08370	3.1	5.69	5.69	0.88448	.	0.511841	0.14674	N	0.305158	T	0.03434	0.0099	L	0.31926	0.97	0.80722	D	1	B	0.16166	0.016	B	0.15484	0.013	T	0.41893	-0.9483	9	.	.	.	-8.7034	15.942	0.79763	0.0:0.0:0.0:1.0	.	325	P15822	ZEP1_HUMAN	A	325	ENSP00000368698:V325A	.	V	+	2	0	HIVEP1	12228988	0.950000	0.32346	0.071000	0.20095	0.594000	0.36715	2.109000	0.41863	2.162000	0.67917	0.533000	0.62120	GTT		TCGA-FB-A5VM-01A-11D-A32N-08	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	1	0	1	91	478	0	104		0	0	0	0	104	2	1	1	71	247	0	366	2	1	1.000000	90	474	0	104	2		0	0	0	0	104	2	-20.000000	1	1	0	0		1	0	0	0	2.002174	0	0.280000	1.920000	0.271845	0.990000	0.920000	1.000000	1.000000	0.994896	0.990000	1	0.990000	1.000000
BTN3A1	11119	broad.mit.edu	37	6	26413540	26413540	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:26413540G>A	ENST00000289361.6	+	10	1530	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	BTN3A1_ENST00000414912.2_Missense_Mutation_p.E336K	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1			28					TCTCGGCTGTGAGAGCTTCAT	0.512000																								0							SO:0001583	missense			ENST00000289361.6	1	1	hg19	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	12.68	2.010049	0.35415	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.15017	2.46;2.46	2.96	1.08	0.20341	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.03520	0.0101	N	0.25992	0.78	0.19300	N	0.999971	B;B	0.18461	0.028;0.028	B;B	0.17722	0.019;0.012	T	0.42949	-0.9421	9	0.44086	T	0.13	.	6.0568	0.19816	0.3689:0.0:0.6311:0.0	.	336;388	E9PGB4;O00481	.;BT3A1_HUMAN	K	388;336	ENSP00000289361:E388K;ENSP00000406667:E336K	ENSP00000289361:E388K	E	+	1	0	BTN3A1	26521519	0.131000	0.22433	0.000000	0.03702	0.003000	0.03518	0.910000	0.28571	0.080000	0.16959	0.609000	0.83330	GAG		TCGA-FB-A5VM-01A-11D-A32N-08	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3	1	0	1	69	507	0	117	0	2.518982e-01	0	8	0	117	2		0	0	0	0	0	2	1	1.000000	69	499	0	117	2		0	0	0	0	117	2	-19.999990	1	1	0	0		1	0	0	0	2.002174	0	0.280000	1.920000	0.271845	0.840000	0.660000	1.000000	1.000000	0.848374	0.840000	0	0.750000	0.940000
KIFC1	3833	broad.mit.edu	37	6	33374225	33374225	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:33374225T>C	ENST00000428849.2	+	8	2239	c.1789T>C	c.(1789-1791)Tcc>Ccc	p.S597P		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1			13					CAGCAGCCTGTCCACGCTGGG	0.637000																								0							SO:0001583	missense			ENST00000428849.2	1	1	hg19	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	t	21.4	4.145930	0.77888	.	.	ENSG00000237649	ENST00000428849	T	0.76839	-1.05	5.22	5.22	0.72569	Kinesin, motor domain (3);	0.057178	0.64402	D	0.000001	D	0.90133	0.6917	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.92850	0.6296	10	0.87932	D	0	-1.8945	13.1064	0.59249	0.0:0.0:0.0:1.0	.	589;597	B4E063;Q9BW19	.;KIFC1_HUMAN	P	597	ENSP00000393963:S597P	ENSP00000393963:S597P	S	+	1	0	KIFC1	33482203	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.048000	0.49862	2.189000	0.69895	0.456000	0.33151	TCC		TCGA-FB-A5VM-01A-11D-A32N-08	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	1	0	1	44	307	0	91	1	9.999787e-01	38	75	0	91	2		0	0	0	0	0	2	1	1.000000	43	305	0	90	2		0	0	0	0	91	2	-20.000000	1	1	0	0		1	1	2	3	2.035096	0	0.280000	1.920000	0.284010	0.900000	0.670000	1.000000	1.000000	0.893697	0.900000	1	0.780000	1.000000
MDN1	23195	broad.mit.edu	37	6	90422465	90422465	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:90422465C>T	ENST00000369393.3	-	48	7374	c.7259G>A	c.(7258-7260)cGa>cAa	p.R2420Q	MDN1_ENST00000428876.1_Missense_Mutation_p.R2420Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)			218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)			TTCATGTGCTCGCAAAGAAGA	0.448000																								0							SO:0001583	missense			ENST00000369393.3	1	1	hg19	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	9.464	1.093904	0.20471	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02837	4.14;4.14	5.62	-6.75	0.01738	.	1.628850	0.03584	N	0.230613	T	0.00524	0.0017	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.47649	-0.9101	10	0.13108	T	0.6	.	6.2293	0.20726	0.0757:0.219:0.127:0.5784	.	2420	Q9NU22	MDN1_HUMAN	Q	2420	ENSP00000358400:R2420Q;ENSP00000413970:R2420Q	ENSP00000358400:R2420Q	R	-	2	0	MDN1	90479186	0.000000	0.05858	0.005000	0.12908	0.504000	0.33889	-1.025000	0.03600	-0.943000	0.03691	0.467000	0.42956	CGA		TCGA-FB-A5VM-01A-11D-A32N-08	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	0	0	1	37	271	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1.000000	37	269	0	44	2		0	0	0	0	45	2	-2.841729	1	1	121412	4	36	1	1	2	3	2.035096	0	0.280000	1.920000	0.284010	0.860000	0.620000	1.000000	1.000000	0.864014	0.860000	1	0.730000	1.000000
SLC12A9	56996	broad.mit.edu	37	7	100460407	100460407	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:100460407G>A	ENST00000354161.3	+	13	1941	c.1816G>A	c.(1816-1818)Gtg>Atg	p.V606M	SLC12A9_ENST00000540482.1_Missense_Mutation_p.V606M|SLC12A9_ENST00000275729.3_Missense_Mutation_p.V517M|SLC12A9_ENST00000415287.1_Missense_Mutation_p.V517M|SLC12A9_ENST00000428758.1_Missense_Mutation_p.V606M	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9			41	Lung NSC(181;0.041)|all_lung(186;0.0581)				CTCACCCTCCGTGCGCCAGGG	0.637000																								0							SO:0001583	missense			ENST00000354161.3	1	1	hg19	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787707	0.90367	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000539308	D;D;D;D;D	0.93953	-2.61;-2.61;-2.24;-2.24;-3.32	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.96315	0.8798	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.968	D	0.96645	0.9477	10	0.66056	D	0.02	.	16.1082	0.81241	0.0:0.0:1.0:0.0	.	517;606	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	M	606;606;517;517;606;232	ENSP00000443702:V606M;ENSP00000408301:V606M;ENSP00000275729:V517M;ENSP00000413796:V517M;ENSP00000275730:V606M	ENSP00000275729:V517M	V	+	1	0	SLC12A9	100298343	1.000000	0.71417	0.950000	0.38849	0.891000	0.51852	7.581000	0.82535	2.404000	0.81709	0.491000	0.48974	GTG		TCGA-FB-A5VM-01A-11D-A32N-08	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	1	0	1	101	613	0	129	1	9.999937e-01	38	65	0	129	2		0	0	0	0	0	2	1	1.000000	100	600	0	127	2		0	0	0	0	129	2	-3.318805	1	1	121412	2	36	1	1	2	3	2.047593	0	0.280000	1.920000	0.285998	0.990000	0.840000	1.000000	1.000000	0.974204	0.990000	1	0.920000	1.000000
CTTNBP2	83992	broad.mit.edu	37	7	117432633	117432633	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:117432633G>A	ENST00000160373.3	-	4	708	c.617C>T	c.(616-618)aCg>aTg	p.T206M	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2			83	Lung NSC(10;0.0018)|all_lung(10;0.002)				TAATTCATTCGTCTTTTTCTT	0.463000																								0							SO:0001583	missense			ENST00000160373.3	1	1	hg19	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	6.153	0.396356	0.11638	.	.	ENSG00000077063	ENST00000160373	T	0.64260	-0.09	5.77	3.96	0.45880	.	0.457226	0.27139	N	0.020745	T	0.59945	0.2231	M	0.71581	2.175	0.25918	N	0.983145	B	0.19445	0.036	B	0.20384	0.029	T	0.56553	-0.7960	10	0.54805	T	0.06	-14.2498	10.3555	0.43960	0.0669:0.2536:0.6795:0.0	.	206	Q8WZ74	CTTB2_HUMAN	M	206	ENSP00000160373:T206M	ENSP00000160373:T206M	T	-	2	0	CTTNBP2	117219869	0.591000	0.26824	0.005000	0.12908	0.249000	0.25844	2.379000	0.44318	0.899000	0.36444	0.650000	0.86243	ACG		TCGA-FB-A5VM-01A-11D-A32N-08	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	1	0	1	51	279	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1.000000	51	276	0	59	2		0	0	0	0	60	2	-19.999970	1	1	121412	2	38	1	1	2	3	2.047593	0	0.280000	1.920000	0.285998	0.990000	0.850000	1.000000	1.000000	0.985956	0.990000	1	0.970000	1.000000
ELMO1	9844	broad.mit.edu	37	7	36917614	36917614	+	Splice_Site	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:36917614C>T	ENST00000310758.4	-	19	2470		c.e19+1		ELMO1_ENST00000396040.2_Splice_Site|ELMO1_ENST00000442504.1_Splice_Site|ELMO1_ENST00000448602.1_Splice_Site|ELMO1_ENST00000341056.3_Splice_Site|ELMO1_ENST00000396045.3_Splice_Site	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1			58					GAGCTACTTACGTTTGTCCTG	0.488000																								0							SO:0001630	splice_region_variant			ENST00000310758.4	1	1	hg19	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112821	0.94339	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0833	0.97789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELMO1	36884139	1.000000	0.71417	0.986000	0.45419	0.981000	0.71138	7.399000	0.79935	2.756000	0.94617	0.655000	0.94253	.		TCGA-FB-A5VM-01A-11D-A32N-08	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	1	0	1	17	138	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	0.999964	16	133	0	32	2		0	0	0	0	32	2	-19.999990	1	1	0	0		1	1	2	3	2.026740	0	0.280000	1.920000	0.282010	0.790000	0.480000	1.000000	1.000000	0.794529	0.790000	0	0.620000	0.990000
ABCA13	154664	broad.mit.edu	37	7	48315041	48315041	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:48315041G>A	ENST00000435803.1	+	17	5802	c.5778G>A	c.(5776-5778)ccG>ccA	p.P1926P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13			270					AGATATTACCGTTTGTCCCAC	0.373000																								0							SO:0001819	synonymous_variant			ENST00000435803.1	1	0	hg19	CCDS47584.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	0	0	1	98	521	1	141		0	0	0	1	141	2		0	0	0	0	0	2	1	1.000000	97	518	1	140	16		0	0	0	1	141	2	-4.804042	1	1	120802	231	59	1	1	2	3	2.038903	0	0.280000	1.920000	0.284010	0.990000	0.930000	1.000000	1.000000	0.996243	0.990000	1	0.990000	1.000000
GJC3	349149	broad.mit.edu	37	7	99521174	99521174	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:99521174A>T	ENST00000312891.2	-	2	833	c.834T>A	c.(832-834)gaT>gaA	p.D278E		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa			9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				caactcaggcatctctgggtc	0.388000																								0							SO:0001583	missense			ENST00000312891.2	1	1	hg19	CCDS34697.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.409331	0.42715	.	.	ENSG00000176402	ENST00000312891	D	0.97850	-4.57	0.235	-0.47	0.12131	.	.	.	.	.	D	0.91928	0.7444	N	0.08118	0	0.19575	N	0.999967	P	0.38711	0.643	B	0.43360	0.417	D	0.87092	0.2173	8	0.21540	T	0.41	.	.	.	.	.	278	Q8NFK1	CXG3_HUMAN	E	278	ENSP00000325775:D278E	ENSP00000325775:D278E	D	-	3	2	GJC3	99359110	0.157000	0.22836	0.581000	0.28614	0.590000	0.36582	-0.593000	0.05740	-0.738000	0.04817	-0.736000	0.03550	GAT		TCGA-FB-A5VM-01A-11D-A32N-08	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345052.1	1	0	1	39	266	0	63	1	3.312274e-01	4	5	0	63	2		0	0	0	0	0	2	1	1.000000	39	260	0	62	2		0	0	0	0	63	2	-20.000000	1	1	0	0		1	1	2	3	2.047593	0	0.280000	1.920000	0.285998	0.920000	0.670000	1.000000	1.000000	0.907519	0.920000	1	0.790000	1.000000
RP1L1	94137	broad.mit.edu	37	8	10470231	10470231	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:10470231G>A	ENST00000382483.3	-	4	1600	c.1377C>T	c.(1375-1377)acC>acT	p.T459T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1			148					CGGGGAGGCCGGTGCTGGAGG	0.726000																								0							SO:0001819	synonymous_variant			ENST00000382483.3	1	1	hg19	CCDS43708.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1	1	0	1	71	445	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1.000000	70	439	0	111	2		0	0	0	0	111	2	-2.841728	1	1	0	0		1	1	2	3	2.079777	0	0.280000	1.920000	0.291896	0.990000	0.790000	1.000000	1.000000	0.962547	0.990000	1	0.890000	1.000000
RIMS2	9699	broad.mit.edu	37	8	105026802	105026802	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:105026802G>A	ENST00000436393.2	+	17	2754	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	RIMS2_ENST00000507740.1_Missense_Mutation_p.R912Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1098Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R937Q			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2			144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		CGAAGGGGCCGACAGCTTCCA	0.443000										HNSCC(12;0.0054)														0							SO:0001583	missense			ENST00000436393.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	26.3	4.726423	0.89298	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.57273	0.41;2.37;2.07;1.98;0.65;1.18	5.63	5.63	0.86233	.	.	.	.	.	T	0.68155	0.2970	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0	D;D;D;D;D	0.85130	0.997;0.974;0.996;0.993;0.996	T	0.69258	-0.5192	9	0.72032	D	0.01	.	19.6846	0.95976	0.0:0.0:1.0:0.0	.	1160;838;937;912;1098	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	Q	1098;1135;1098;1160;937;912;912;838	ENSP00000427018:R1098Q;ENSP00000384892:R1098Q;ENSP00000262231:R937Q;ENSP00000423559:R912Q;ENSP00000386228:R912Q;ENSP00000390665:R838Q	ENSP00000262231:R937Q	R	+	2	0	RIMS2	105095978	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.175000	0.94831	2.652000	0.90054	0.591000	0.81541	CGA		TCGA-FB-A5VM-01A-11D-A32N-08	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	1	0	1	25	178	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1.000000	24	176	0	43	2		0	0	0	0	44	2	-3.222953	1	1	0	0		1	0	1	1	2.014413	0	0.280000	1.920000	0.277978	0.870000	0.590000	1.000000	1.000000	0.865491	0.870000	1	0.720000	1.000000
KCNQ3	3786	broad.mit.edu	37	8	133142050	133142050	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:133142050G>A	ENST00000388996.4	-	15	2498	c.2078C>T	c.(2077-2079)cCg>cTg	p.P693L	KCNQ3_ENST00000521134.1_Missense_Mutation_p.P573L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P681L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	p.E694fs*12(1)		70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)	Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGGTGGTTCCGGGGGGCCTGT	0.547000																								1	Insertion - Frameshift(1)						SO:0001583	missense			ENST00000388996.4	1	1	hg19	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	9.836	1.189602	0.21954	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98901	-5.21;-5.17;-5.22	5.49	3.51	0.40186	.	0.504521	0.23192	N	0.050897	D	0.91872	0.7427	N	0.08118	0	0.47737	D	0.999504	P;B	0.35328	0.495;0.178	B;B	0.17722	0.019;0.012	D	0.88843	0.3314	10	0.37606	T	0.19	-9.8678	3.0642	0.06209	0.0918:0.1206:0.4274:0.3601	.	681;693	E7ET42;O43525	.;KCNQ3_HUMAN	L	693;573;681;670;572	ENSP00000373648:P693L;ENSP00000429799:P573L;ENSP00000428790:P681L	ENSP00000373648:P693L	P	-	2	0	KCNQ3	133211232	0.989000	0.36119	0.712000	0.30502	0.718000	0.41266	2.135000	0.42112	1.330000	0.45394	0.549000	0.68633	CCG		TCGA-FB-A5VM-01A-11D-A32N-08	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	0	0	0	42	522	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	1.000000	41	514	0	82	2		0	0	0	0	84	2	-2.239612	0	1	121412	4	38	1	1	3	4	2.592854	1	0.280000	1.920000	0.436267	0.680000	0.490000	0.900000	0.670000	0.691371	0.680000	0	0.580000	0.790000
KCNQ3	3786	broad.mit.edu	37	8	133153411	133153411	+	Missense_Mutation	SNP	C	C	T	rs141821338		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:133153411C>T	ENST00000388996.4	-	10	1850	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	KCNQ3_ENST00000521134.1_Missense_Mutation_p.R357H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R477H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	p.R477H(1)		70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)	Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGCTTTCATGCGGAAGGCCGT	0.473000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000388996.4	1	1	hg19	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011674	0.93346	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99735	-6.58;-6.58;-6.58	5.63	5.63	0.86233	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.118141	0.56097	D	0.000027	D	0.99600	0.9855	M	0.64170	1.965	0.52099	D	0.999943	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98327	1.0531	10	0.87932	D	0	-16.6136	18.6978	0.91607	0.0:1.0:0.0:0.0	.	477;477	E7ET42;O43525	.;KCNQ3_HUMAN	H	477;357;477;466;356	ENSP00000373648:R477H;ENSP00000429799:R357H;ENSP00000428790:R477H	ENSP00000373648:R477H	R	-	2	0	KCNQ3	133222593	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.524000	0.60552	2.652000	0.90054	0.655000	0.94253	CGC		TCGA-FB-A5VM-01A-11D-A32N-08	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	1	0	1	60	527	0	63	0	0	0	1	0	63	2		0	0	0	0	0	2	1	1.000000	60	515	0	63	2		0	0	0	0	63	2	-3.221883	1	1	0	0		1	1	3	4	2.592854	1	0.280000	1.920000	0.436267	0.930000	0.720000	1.000000	1.000000	0.919150	0.930000	1	0.820000	1.000000
COMMD5	28991	broad.mit.edu	37	8	146076505	146076505	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:146076505G>A	ENST00000305103.3	-	2	471	c.219C>T	c.(217-219)gtC>gtT	p.V73V	COMMD5_ENST00000402718.3_Silent_p.V73V|AF235103.1_ENST00000578937.1_RNA|COMMD5_ENST00000450361.2_Silent_p.V73V	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5			11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		GGTTGGCGCTGACCCCAAGAC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000305103.3	1	1	hg19	CCDS6436.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382962.1	1	0	1	33	188	0	36	1	9.999999e-01	52	102	0	36	2		0	0	0	0	0	2	1	1.000000	33	185	0	36	2		0	0	0	0	36	2	-20.000000	1	1	0	0		1	1	2	3	2.075471	0	0.280000	1.920000	0.290920	0.990000	0.770000	1.000000	1.000000	0.972388	0.990000	1	0.920000	1.000000
ATP2B3	492	broad.mit.edu	37	X	152806983	152806983	+	Silent	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:152806983G>T	ENST00000349466.2	+	3	701	c.375G>T	c.(373-375)tcG>tcT	p.S125S	ATP2B3_ENST00000263519.4_Silent_p.S125S|ATP2B3_ENST00000370181.2_Silent_p.S125S|ATP2B3_ENST00000370186.1_Silent_p.S125S|ATP2B3_ENST00000359149.3_Silent_p.S125S|ATP2B3_ENST00000393842.1_Silent_p.S125S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3			50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				TGGGCCTCTCGTTCTATGCGC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000349466.2	1	1	hg19	CCDS35440.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	1	0	1	49	112	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1.000000	49	111	0	34	2		0	0	0	0	35	2	-20.000000	1	1	0	0		1	0	1	1			0.280000	1.920000	0.280000	0.930000	0.770000	1.000000	0.990000	0.929529	0.930000	1	0.860000	0.990000
BRWD3	254065	broad.mit.edu	37	X	79932804	79932804	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:79932804G>A	ENST00000373275.4	-	41	4929	c.4713C>T	c.(4711-4713)atC>atT	p.I1571I	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3			87					GTTTTCTCTTGATTCCTGTCC	0.368000																								0							SO:0001819	synonymous_variant			ENST00000373275.4	1	1	hg19	CCDS14447.1																																																																																				TCGA-FB-A5VM-01A-11D-A32N-08	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	1	0	1	34	87	0	28	1	4.386202e-01	5	0	0	28	2		0	0	0	0	0	2	1	1.000000	34	86	0	28	2		0	0	0	0	28	2	-20.000000	1	1	0	0		1	0	1	1			0.280000	1.920000	0.280000	0.890000	0.690000	1.000000	0.980000	0.890049	0.890000	1	0.800000	0.970000
