Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ITIH5	80760	broad.mit.edu	37	10	7621949	7621949	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr10:7621949C>T	uc021pmv.1	-	8	1293	c.1187G>A	c.(1186-1188)cGg>cAg	p.R396Q	ITIH5_uc021pmu.1_Missense_Mutation_p.R182Q|ITIH5_uc001ijr.2_Missense_Mutation_p.R396Q	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	396	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGACACGCTCCGGTCTCCAAT	0.632000													26	21					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511447	195511447	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr3:195511447G>A	uc021xjp.1	-	1	7160	c.7004C>T	c.(7003-7005)aCg>aTg	p.T2335M	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	94					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.T2335M(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGAGGCGTGGTGTCACC	0.597000													5	24					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38166281	38166281	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr13:38166281C>A	uc001uwo.4	-	2	357	c.239G>T	c.(238-240)tGc>tTc	p.C80F	POSTN_uc001uwp.4_Missense_Mutation_p.C80F|POSTN_uc001uwr.3_Missense_Mutation_p.C80F|POSTN_uc001uwq.3_Missense_Mutation_p.C80F|POSTN_uc010teu.1_Missense_Mutation_p.C80F|POSTN_uc010tev.1_Missense_Mutation_p.C80F|POSTN_uc010tew.1_Missense_Mutation_p.C80F|POSTN_uc010tex.1_5'UTR	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	80	EMI.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATAACCAGGGCAACATTCATA	0.294000													48	46					4.88482e-21	5.78037e-21	1	1	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	118717	118717	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chrGL000209.1:118717T>C	uc010yie.2	+	2	205	c.194T>C	c.(193-195)aTg>aCg	p.M65T	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.M62T|KIR2DL2_uc002qum.3_Missense_Mutation_p.M65T	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	65	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										AGAGAGGGGATGTTTAACGAC	0.522000													3	105					0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52376124	52376124	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr19:52376124C>A	uc010yde.2	-	6	1510	c.1119G>T	c.(1117-1119)gaG>gaT	p.E373D	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Missense_Mutation_p.E314D|ZNF577_uc002pxv.3_Missense_Mutation_p.E366D|ZNF577_uc002pxw.3_Missense_Mutation_p.E307D	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.	373			E -> K (in dbSNP:rs10407547).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTGAGTTTTCTCATGTTTAA	0.448000													32	38					1.90571e-15	2.18234e-15	1	1	0
DNAI2	64446	broad.mit.edu	37	17	72306227	72306227	+	Silent	SNP	G	G	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr17:72306227G>T	uc002jkf.3	+	10	1529	c.1419G>T	c.(1417-1419)ctG>ctT	p.L473L	DNAI2_uc002jkg.3_Silent_p.L461L|DNAI2_uc010dfp.3_Non-coding_Transcript|BX648926_uc002jkh.1_5'Flank|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	473					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTCCCAGCTGGGGACAACCA	0.622000									Kartagener syndrome				25	42					1.39806e-14	1.57559e-14	1	1	0
HTR3A	3359	broad.mit.edu	37	11	113846045	113846045	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr11:113846045G>A	uc010rxb.2	+	0	249	c.16G>A	c.(16-18)Gct>Act	p.A6T	HTR3A_uc010rxa.2_Missense_Mutation_p.A6T|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_5'Flank	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	0					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TGGAAAGCTCGCTATGCTGCT	0.632000													7	15					0	0	1	0	0
ACY3	91703	broad.mit.edu	37	11	67413212	67413212	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr11:67413212G>A	uc001omq.3	-	3	554	c.383C>T	c.(382-384)gCg>gTg	p.A128V		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	Homo sapiens aspartoacylase (aminocyclase) 3 (ACY3), mRNA.	128					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GGAGGACTTCGCGATTAAGCA	0.642000													8	160					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29008265	29008265	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr13:29008265T>C	uc001usb.3	-	4	891	c.606A>G	c.(604-606)atA>atG	p.I202M	FLT1_uc010aar.1_Missense_Mutation_p.I202M|FLT1_uc001usc.3_Missense_Mutation_p.I202M|FLT1_uc010tdp.1_Missense_Mutation_p.I202M	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	202	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.E201Q(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TCAGAAGCCCTATTTCTTTGT	0.398000													3	76					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890639	32890639	+	Missense_Mutation	SNP	T	T	C	rs79284655		TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr16:32890639T>C	uc002edh.1	-	4	423	c.247A>G	c.(247-249)Aag>Gag	p.K83E	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		ACCAGCGGCTTGTAGTACACA	0.627000													7	109					0	0	1	0	0
PPM1B	5495	broad.mit.edu	37	2	44429130	44429130	+	Silent	SNP	A	A	G			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr2:44429130A>G	uc002rtt.3	+	1	1220	c.792A>G	c.(790-792)gtA>gtG	p.V264V	PPM1B_uc002rts.3_Silent_p.V264V|PPM1B_uc002rtu.3_Silent_p.V264V|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Silent_p.V264V|PPM1B_uc002rtx.3_Silent_p.V264V	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	264					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGCTTGAGGTATCTGATGACC	0.358000													4	116					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125651141	125651141	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr10:125651141G>T	uc001lhk.1	-	0	360	c.35C>A	c.(34-36)gCc>gAc	p.A12D	CPXM2_uc001lhj.3_Intron	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	12					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GAGCACCAGGGCCAGCGCTGG	0.766000													4	20					0.014758	0.0149688	1	1	0
RBMXL3	139804	broad.mit.edu	37	X	114427149	114427149	+	Missense_Mutation	SNP	A	A	G	rs6643947		TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chrX:114427149A>G	uc011mte.1	+	0	3187	c.3145A>G	c.(3145-3147)Agg>Ggg	p.R1049G	LRCH2_uc010nqe.3_Intron|LRCH2_uc004epz.3_Intron	NM_001145346	NP_001138818	Q8N7X1	RMXL3_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 3 (RBMXL3), mRNA.	1049	Gly-rich.			R -> G (in Ref. 1; BAG63332).			RNA binding|nucleotide binding			endometrium(13)|kidney(2)|skin(1)	16						CAGGGTGCCCAGGGGCGGAGG	0.612000													5	87					0	0	1	0	0
MLL5	55904	broad.mit.edu	37	7	104750955	104750955	+	Silent	SNP	G	G	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr7:104750955G>T	uc003vcm.3	+	24	4410	c.3876G>T	c.(3874-3876)ccG>ccT	p.P1292P	MLL5_uc010ljc.3_Silent_p.P1292P|MLL5_uc010lje.1_Non-coding_Transcript|MLL5_uc010ljf.1_Non-coding_Transcript|MLL5_uc010ljg.3_Intron|AF520793_uc003vcp.1_5'Flank|MLL5_uc010ljh.1_Intron	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1292					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						CATGTTCACCGAGTCATGTTC	0.463000													5	109					0.000602214	0.000638167	1	1	0
PLXNB2	23654	broad.mit.edu	37	22	50728592	50728592	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr22:50728592T>A	uc003bkv.4	-	2	515	c.422A>T	c.(421-423)aAg>aTg	p.K141M		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	141	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACGAAAGACTTCTCCCCGCT	0.642000													34	62					0	0	1	0	0
CCDC171	203238	broad.mit.edu	37	9	15745613	15745613	+	Silent	SNP	C	C	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr9:15745613C>T	uc011lmu.2	+	16	2790	c.2679C>T	c.(2677-2679)gaC>gaT	p.D893D	CCDC171_uc003zmd.3_Silent_p.D885D|CCDC171_uc003zme.3_Silent_p.D800D|CCDC171_uc003zmf.1_Silent_p.D193D	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	Homo sapiens chromosome 9 open reading frame 93 (C9orf93), mRNA.	885								p.D152D(1)|p.D885D(1)									AATTACAAGACGTCATTGGTA	0.363000													11	20					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34778710	34778710	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr20:34778710C>G	uc002xfb.3	+	10	1462	c.1291C>G	c.(1291-1293)Ctt>Gtt	p.L431V	EPB41L1_uc002xeu.3_Missense_Mutation_p.L369V|EPB41L1_uc010zvo.1_Missense_Mutation_p.L431V|EPB41L1_uc002xev.3_Missense_Mutation_p.L431V|EPB41L1_uc002xew.3_Missense_Mutation_p.L334V|EPB41L1_uc002xex.3_Missense_Mutation_p.L400V|EPB41L1_uc002xey.3_Missense_Mutation_p.L358V|EPB41L1_uc002xez.3_Missense_Mutation_p.L369V	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	431					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GTCCCGCAGCCTTGATGGAGG	0.602000													9	20					0	0	1	0	0
RAB40B	10966	broad.mit.edu	37	17	80617514	80617514	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr17:80617514T>A	uc002kft.3	-	3	410	c.284A>T	c.(283-285)gAc>gTc	p.D95V	RAB40B_uc002kfs.3_Non-coding_Transcript	NM_006822	NP_006813	Q12829	RB40B_HUMAN	Homo sapiens RAB40B, member RAS oncogene family (RAB40B), mRNA.	95					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GTTCGCAATGTCATAGACCAG	0.517000													36	62					0	0	1	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815212	179815212	+	Silent	SNP	A	A	C			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr1:179815212A>C	uc001gnl.3	-	6	2221	c.1407T>G	c.(1405-1407)ctT>ctG	p.L469L	TOR1AIP2_uc001gnk.3_Silent_p.L469L	NM_001199260	NP_001186189	Q8NFQ8	TOIP2_HUMAN	Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.	469						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						AGCTTTAGAAAAGGCACCCCT	0.423000													5	95					0	0	1	0	0
HOXA7	3204	broad.mit.edu	37	7	27194707	27194707	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr7:27194707G>A	uc003sys.3	-	1	646	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	HOXA-AS3_uc003syr.2_3'UTR|HOXA-AS3_uc003syp.2_3'UTR|HOXA6_uc003syq.1_5'Flank	NM_006896	NP_008827	P31268	HXA7_HUMAN	Homo sapiens homeobox A7 (HOXA7), mRNA.	172					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						TTAATCTGGCGCTCGGTGAGG	0.632000													26	66					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16177358	16177358	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr16:16177358G>A	uc010bvi.3	+	16	2426	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K	ABCC1_uc010bvj.3_Intron|ABCC1_uc010bvk.3_Missense_Mutation_p.E751K|ABCC1_uc010bvl.3_Missense_Mutation_p.E751K|ABCC1_uc010bvm.3_Intron|ABCC1_uc002del.4_Missense_Mutation_p.E635K	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	751	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCCAGACCTGGAAATCCTGCC	0.517000													47	153					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66456396	66456396	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr5:66456396C>A	uc021xzk.1	+	26	4069	c.3761C>A	c.(3760-3762)tCc>tAc	p.S1254Y	MAST4_uc003jut.2_Missense_Mutation_p.S1065Y|MAST4_uc003juw.3_Missense_Mutation_p.S993Y	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1257						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCAAGAAATCCAAGAAGAAA	0.393000													19	37					4.76136e-26	5.72977e-26	1	1	0
AK308867	0	broad.mit.edu	37	16	70268081	70268081	+	RNA	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr16:70268081G>A	uc010cfp.1	-	2		c.334C>T								Homo sapiens cDNA, FLJ98908.																		TCTTACTGTTGGCTAAAAGGC	0.373000													3	36					0	0	1	0	0
TMEM184C	55751	broad.mit.edu	37	4	148545023	148545023	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr4:148545023C>G	uc003ila.4	+	1	731	c.162C>G	c.(160-162)atC>atG	p.I54M		NM_018241	NP_060711	Q9NVA4	T184C_HUMAN	Homo sapiens transmembrane protein 184C (TMEM184C), mRNA.	54						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTGCTGGAATCTTTTTGCTGT	0.333000													27	21					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112154880	112154880	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr5:112154880G>T	uc003kpz.4	+	10	1344	c.1151G>T	c.(1150-1152)aGt>aTt	p.S384I	APC_uc011cvt.2_Missense_Mutation_p.S366I|APC_uc003kpy.4_Missense_Mutation_p.S384I|APC_uc010jbz.3_Missense_Mutation_p.S101I|APC_uc010jca.3_5'Flank	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	384	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCCAGGGCCAGTGCAGCACTC	0.507000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			52	84					7.10676e-39	8.69966e-39	1	1	0
TP53BP1	7158	broad.mit.edu	37	15	43748237	43748237	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr15:43748237G>A	uc001zrs.3	-	11	2702	c.2554C>T	c.(2554-2556)Cag>Tag	p.Q852*	TP53BP1_uc010udp.2_Nonsense_Mutation_p.Q852*|TP53BP1_uc001zrq.4_Nonsense_Mutation_p.Q857*|TP53BP1_uc001zrr.4_Nonsense_Mutation_p.Q857*|TP53BP1_uc010udq.1_Nonsense_Mutation_p.Q857*	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	852					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTTTGGGGCTGCTGCAACTCC	0.458000								Other conserved DNA damage response genes					23	36					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2545	2545	+	RNA	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chrGL000237.1:2545G>A	uc011mgu.1	-	0		c.142C>T								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ctccagccgcgctgccatctc	0.627000													2	1					0	0	1	0	0
TSGA10	80705	broad.mit.edu	37	2	99634687	99634687	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr2:99634687C>T	uc002szg.4	-	17	2676	c.2048G>A	c.(2047-2049)cGa>cAa	p.R683Q	TSGA10_uc002szh.4_Missense_Mutation_p.R683Q|TSGA10_uc002szi.4_Missense_Mutation_p.R683Q|TSGA10_uc010fin.1_Missense_Mutation_p.R683Q	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	683	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ATCTAGGCCTCGGTCAGGAGA	0.383000													23	48					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720900	95720900	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr10:95720900C>T	uc009xuj.2	-	0	773	c.254G>A	c.(253-255)cGt>cAt	p.R85H						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		GGTCTTGAAACGAAAGGCATT	0.498000													27	246					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	28984749	28984749	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr8:28984749C>G	uc003xhh.4	-	24	3171	c.3112G>C	c.(3112-3114)Gtg>Ctg	p.V1038L	AF086219_uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1038					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GATTCCTGCACTGACTTCACT	0.443000													8	95					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69339166	69339166	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr15:69339166C>A	uc002ars.2	+	10	1693	c.1652C>A	c.(1651-1653)tCt>tAt	p.S551Y	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.S505Y|NOX5_uc002arp.2_Missense_Mutation_p.S533Y|NOX5_uc010bid.2_Missense_Mutation_p.S516Y|NOX5_uc010bie.2_Missense_Mutation_p.S351Y|NOX5_uc002arr.2_Missense_Mutation_p.S523Y|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	551	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CTGCAGGGCTCTGAGATACTT	0.468000													22	50					1.42536e-11	1.58125e-11	1	1	0
EPC2	26122	broad.mit.edu	37	2	149519453	149519453	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr2:149519453A>T	uc010zbt.2	+	4	796	c.769A>T	c.(769-771)Aca>Tca	p.T257S		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	257					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AAGAGAGAAAACAAAACGAGA	0.343000													6	206					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27437604	27437604	+	Silent	SNP	G	G	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr17:27437604G>T	uc002hdt.1	-	17	3095	c.2937C>A	c.(2935-2937)ggC>ggA	p.G979G	MYO18A_uc010wbc.1_Silent_p.G521G|MYO18A_uc002hds.2_Silent_p.G521G|MYO18A_uc010csa.1_Silent_p.G979G|MYO18A_uc002hdu.1_Silent_p.G979G|MYO18A_uc010wbd.1_Silent_p.G648G	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	979	Myosin head-like.				DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.G979G(3)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCGTGGCACTGCCTGCGCGGC	0.627000													8	26					0.00448238	0.00461231	1	1	0
NMBR	4829	broad.mit.edu	37	6	142396953	142396953	+	Silent	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr6:142396953G>A	uc003qiu.3	-	2	1146	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	335					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GTTGGCTGTTGAAATGCCTCC	0.473000													8	110					0	0	1	0	0
SP6	80320	broad.mit.edu	37	17	45925061	45925061	+	Silent	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr17:45925061G>A	uc002imh.1	-	1	1013	c.735C>T	c.(733-735)ccC>ccT	p.P245P	SP6_uc002img.1_Silent_p.P245P|SP6_uc021tzc.1_Silent_p.P245P	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Homo sapiens Sp6 transcription factor (SP6), mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						TGCCCCCATCGGGCCCACATG	0.672000													26	41					0	0	1	0	0
FAM71E2	284418	broad.mit.edu	37	19	55869916	55869916	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr19:55869916C>T	uc002qkr.2	-	8	2506	c.2320G>A	c.(2320-2322)Gag>Aag	p.E774K	FAM71E2_uc002qkq.2_Missense_Mutation_p.E427K	NM_001145402	NP_001138874	Q8N5Q1	F71E2_HUMAN	Homo sapiens family with sequence similarity 71, member E2 (FAM71E2), mRNA.	774										NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1)	8						TCCTTCATCTCGCCCCATGGC	0.662000													6	38					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104432551	104432551	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr8:104432551G>T	uc003yln.3	+	1	863	c.586G>T	c.(586-588)Gct>Tct	p.A196S	DCAF13_uc003ylm.1_Intron	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	44					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ATATATAAGAGCTTTAAATGC	0.388000													39	66					3.4345e-17	3.99753e-17	1	1	0
RLTPR	146206	broad.mit.edu	37	16	67683208	67683208	+	Silent	SNP	C	C	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr16:67683208C>T	uc002etn.3	+	18	1860	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D	RLTPR_uc010cel.1_Silent_p.D573D|RLTPR_uc010vjr.2_Silent_p.D544D	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	580	Tropomodulin-like.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGCAGGACGACGATTGTGTGA	0.612000													19	26					0	0	1	0	0
LYSMD1	388695	broad.mit.edu	37	1	151134570	151134570	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr1:151134570G>T	uc001ewy.3	-	1	823	c.187C>A	c.(187-189)Cag>Aag	p.Q63K	SCNM1_uc021oyk.1_Intron|LYSMD1_uc010pcr.2_Missense_Mutation_p.Q15K	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 1 (LYSMD1), transcript variant 1, mRNA.	63					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGTTTAATCTGTTCCATCTTA	0.378000													24	36					3.01185e-09	3.28987e-09	1	1	0
LAMA4	3910	broad.mit.edu	37	6	112463434	112463434	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr6:112463434T>C	uc003pvu.2	-	19	2863	c.2554A>G	c.(2554-2556)Atg>Gtg	p.M852V	LAMA4_uc003pvv.2_Missense_Mutation_p.M845V|LAMA4_uc003pvt.2_Missense_Mutation_p.M845V	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	852	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAGTCATCCATACTGGTTCTC	0.493000													3	88					0	0	1	0	0
PILRA	29992	broad.mit.edu	37	7	99972037	99972037	+	Silent	SNP	C	C	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr7:99972037C>T	uc003uuo.1	+	1	647	c.435C>T	c.(433-435)acC>acT	p.T145T	PILRA_uc011kjn.1_Silent_p.T145T|PILRA_uc011kjo.2_Silent_p.T145T|PILRA_uc003uup.1_Silent_p.T145T|PILRA_uc003uuq.1_Silent_p.T145T	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor alpha (PILRA), transcript variant 1, mRNA.	145	Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCGAGGGGACCAAACTCTCCA	0.592000													18	50					0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37570604	37570604	+	Silent	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr20:37570604G>A	uc002xjg.3	+	1	617	c.576G>A	c.(574-576)gtG>gtA	p.V192V	FAM83D_uc002xjf.3_Silent_p.V192V	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	162					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ACCTGTAGGTGATTGCAGTGG	0.483000													45	78					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	G	A	rs142860004	by1000genomes	TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr13:25168489G>A	uc001upm.3	+	9		c.1161G>A			TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TGAAAGTGCAGTTTTTCTCTT	0.363000													3	23					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728593	50728593	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr22:50728593T>C	uc003bkv.4	-	2	514	c.421A>G	c.(421-423)Aag>Gag	p.K141E		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	141	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACGAAAGACTTCTCCCCGCTG	0.647000													36	62					0	0	1	0	0
AK308867	0	broad.mit.edu	37	16	70268080	70268080	+	RNA	SNP	T	T	C	rs149244259	by1000genomes	TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr16:70268080T>C	uc010cfp.1	-	2		c.335A>G								Homo sapiens cDNA, FLJ98908.																		GTCTTACTGTTGGCTAAAAGG	0.373000													3	36					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41076606	41076606	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr19:41076606C>T	uc002ony.3	+	32	7377	c.7291C>T	c.(7291-7293)Ctc>Ttc	p.L2431F	SPTBN4_uc002onz.3_Missense_Mutation_p.L2431F|SPTBN4_uc010egx.3_Missense_Mutation_p.L1174F	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	2431	PH.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAAGCGCGAGCTCGACGCTAA	0.711000													17	34					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47802004	47802004	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr18:47802004C>T	uc002lem.4	-	7	1195	c.758G>A	c.(757-759)cGc>cAc	p.R253H	MBD1_uc002lef.3_Missense_Mutation_p.R35H|MBD1_uc002leg.3_Missense_Mutation_p.R204H|MBD1_uc010dow.2_Missense_Mutation_p.R253H|MBD1_uc010xdi.2_Missense_Mutation_p.R279H|MBD1_uc010xdj.2_Missense_Mutation_p.R253H|MBD1_uc002lel.4_Missense_Mutation_p.R253H|MBD1_uc002len.3_Missense_Mutation_p.R253H|MBD1_uc002leh.4_Missense_Mutation_p.R253H|MBD1_uc002lei.4_Missense_Mutation_p.R253H|MBD1_uc002lej.4_Missense_Mutation_p.R253H|MBD1_uc002lek.4_Missense_Mutation_p.R204H|MBD1_uc021ukd.1_Missense_Mutation_p.R253H|MBD1_uc021uke.1_Missense_Mutation_p.R253H|MBD1_uc010xdk.2_Missense_Mutation_p.R253H|MBD1_uc010dox.1_Missense_Mutation_p.R253H|MBD1_uc002leo.2_Missense_Mutation_p.R253H	NM_001204136	NP_001191065	Q9UIS9	MBD1_HUMAN	Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript variant 6, mRNA.	253					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.R253L(5)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TTTCCACTGGCGCCTGAGACC	0.602000													57	120					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111506049	111506049	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr5:111506049G>A	uc003kpv.1	-	19	1962	c.1688C>T	c.(1687-1689)cCa>cTa	p.P563L	EPB41L4A_uc003kpp.1_Missense_Mutation_p.P190L|EPB41L4A_uc003kpu.1_5'Flank	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	563						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CAATCCGGATGGATCCACAAG	0.378000													16	38					0	0	1	0	0
VASN	114990	broad.mit.edu	37	16	4432543	4432543	+	Silent	SNP	A	A	C			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr16:4432543A>C	uc021tch.1	+	0	1665	c.1665A>C	c.(1663-1665)acA>acC	p.T555T	CORO7-PAM16_uc002cwe.3_Intron|CORO7-PAM16_uc002cwf.3_Intron|CORO7-PAM16_uc002cwg.4_Intron|CORO7-PAM16_uc002cwh.4_Intron|CORO7-PAM16_uc010uxh.2_Intron|CORO7-PAM16_uc010uxi.2_Intron|CORO7-PAM16_uc002cwi.1_Intron|CORO7-PAM16_uc010uxj.1_Intron|CORO7-PAM16_uc010btp.1_Intron|VASN_uc002cwj.1_Silent_p.T555T	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	Homo sapiens vasorin (VASN), mRNA.	555	Fibronectin type-III.					extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						AGGCCCATACACCCCCAGCCG	0.731000													6	70					0	0	1	0	0
ARSE	415	broad.mit.edu	37	X	2861169	2861169	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chrX:2861169C>T	uc011mhh.2	-	8	1599	c.1138G>A	c.(1138-1140)Ggc>Agc	p.G380S	ARSE_uc011mhi.2_Missense_Mutation_p.G301S|ARSE_uc004crc.4_Missense_Mutation_p.G355S			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	355					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGAACCGCCGTGATCCGAC	0.473000													50	24					0	0	1	0	0
POU2AF1	5450	broad.mit.edu	37	11	111228192	111228192	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr11:111228192G>A	uc001plg.4	-	3	689	c.434C>T	c.(433-435)cCg>cTg	p.P145L		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	145					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GATGAGTGGCGGAGAGGCATA	0.572000			T	BCL6	NHL								94	166					0	0	1	0	0
POLR2J4	84820	broad.mit.edu	37	7	44027775	44027775	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr7:44027775T>G	uc010kxw.2	-	3	338	c.217A>C	c.(217-219)Acc>Ccc	p.T73P	POLR2J4_uc003tjc.2_Non-coding_Transcript|POLR2J4_uc003tjd.3_Intron					Homo sapiens polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene (POLR2J4), non-coding RNA.																		AGCGTGAAGGTGGACAGGGTG	0.627000													3	32					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154938022	154938022	+	Silent	SNP	A	A	C			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr1:154938022A>C	uc001ffv.3	-	10	1841	c.1620T>G	c.(1618-1620)ggT>ggG	p.G540G	SHC1_uc001ffw.3_Silent_p.G541G|SHC1_uc001ffx.3_Silent_p.G431G|SHC1_uc001ffy.3_Silent_p.G430G|SHC1_uc001ffz.1_Silent_p.G311G	NM_183001	NP_001189788	P29353	SHC1_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA.	540	SH2.				Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CACTCACCACACCCTCAGGGT	0.547000													4	105					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21133827	21133829	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr1:21133827_21133829delCTC	uc001bec.3	-	31	4997_4999	c.4741_4743delGAG	c.(4741-4743)gagdel	p.E1581del	EIF4G3_uc010odi.2_In_Frame_Del_p.E1185del|EIF4G3_uc010odj.2_In_Frame_Del_p.E1580del|EIF4G3_uc009vpz.3_In_Frame_Del_p.E1301del|EIF4G3_uc001bef.3_In_Frame_Del_p.E1617del|EIF4G3_uc001bee.3_In_Frame_Del_p.E1587del	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	1581	EIF4A-binding (By similarity).|Necessary but not sufficient for MKNK1- binding (By similarity).|W2.				RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TATCCTCAGACTCCTCTTCTGCT	0.438													37	63	---	---	---	---					
GPR37L1	9283	broad.mit.edu	37	1	202097307	202097311	+	Frame_Shift_Del	DEL	CTCAA	CTCAA	-	rs76841249	byFrequency	TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr1:202097307_202097311delCTCAA	uc001gxj.3	+	1	1132_1136	c.1069_1073delCTCAA	c.(1069-1074)ctcaacfs	p.L357fs		NM_004767	NP_004758	O60883	ETBR2_HUMAN	Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA.	357						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						TGAGAGCCAGCTCAACAGCACCGTG	0.639													37	50	---	---	---	---					
EFCAB2	84288	broad.mit.edu	37	1	245133550	245133551	+	Frame_Shift_Del	DEL	GC	GC	-	rs10536649		TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr1:245133550_245133551delGC	uc001ibd.2	+	0	267_268	c.126_127delGC	c.(124-129)gggcgcfs	p.G42fs	EFCAB2_uc001ibc.2_Intron|EFCAB2_uc010pyo.1_5'Flank|EFCAB2_uc010pyp.1_5'Flank|EFCAB2_uc001ibe.2_5'Flank			Q5VUJ9	EFCB2_HUMAN	Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant 3, non-coding RNA.	42							calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			CGGGGACAGGGCGCGCGCTCGG	0.777													18	8	---	---	---	---					
THUMPD2	80745	broad.mit.edu	37	2	39964198	39964199	+	Splice_Site	DEL	CT	CT	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr2:39964198_39964199delCT	uc002rru.2	-	10	1225	c.1188_splice	c.e10-1	p.R396_splice	THUMPD2_uc002rrv.2_Splice_Site|THUMPD2_uc010ynt.1_Splice_Site_p.R287_splice	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN	Homo sapiens THUMP domain containing 2 (THUMPD2), transcript variant 1, mRNA.	396							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				ACATGAAGCACTCTGTGACAAA	0.356													23	101	---	---	---	---					
TEKT4	150483	broad.mit.edu	37	2	95539829	95539830	+	Frame_Shift_Ins	INS	-	-	G	rs149873671		TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr2:95539829_95539830insG	uc002stw.1	+	2	782_783	c.689_690insG	c.(688-690)ccgfs	p.P230fs	LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	230					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.P230P(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGGCTCATCCGTACTCCACCA	0.663													7	163	---	---	---	---					
HOXD10	3236	broad.mit.edu	37	2	176981597	176981599	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr2:176981597_176981599delTTT	uc002ukj.3	+	0	106_108	c.36_38delTTT	c.(34-39)actttt>act	p.F13del		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	13						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CTGCTAATACTTTTTTAGTAGAT	0.453													33	47	---	---	---	---					
GLS	2744	broad.mit.edu	37	2	191788697	191788701	+	Frame_Shift_Del	DEL	AAAAG	AAAAG	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr2:191788697_191788701delAAAAG	uc002usf.2	+	9	1449_1453	c.1185_1189delAAAAG	c.(1183-1191)ttaaaagaafs	p.L395fs	GLS_uc002use.2_Frame_Shift_Del_p.L395fs|GLS_uc002usg.1_Frame_Shift_Del_p.L56fs|GLS_uc002ush.2_Frame_Shift_Del_p.L56fs	NM_014905	NP_055720	O94925	GLSK_HUMAN	Homo sapiens glutaminase (GLS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	395					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GATATTACTTAAAAGAAAAGAAGGT	0.259													34	87	---	---	---	---					
DCBLD2	131566	broad.mit.edu	37	3	98519583	98519584	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr3:98519583_98519584delAG	uc003dte.3	-	14	2102_2103	c.1739_1740delCT	c.(1738-1740)tctfs	p.S580fs	DCBLD2_uc003dtd.3_Intron	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	Homo sapiens discoidin, CUB and LCCL domain containing 2 (DCBLD2), mRNA.	573					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GGCAAGCCAAAGAGACCATTAA	0.401													54	27	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187629210	187629211	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr4:187629210_187629211delAC	uc003izf.3	-	1	1959_1960	c.1771_1772delGT	c.(1771-1773)gttfs	p.V591fs	FAT1_uc010iso.1_Frame_Shift_Del_p.V591fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	591	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATAGCAGAAACAGTGGTTATT	0.396										HNSCC(5;0.00058)			25	28	---	---	---	---					
NIPBL	25836	broad.mit.edu	37	5	36986201	36986204	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr5:36986201_36986204delAAAG	uc003jkl.4	+	9	3418_3421	c.2919_2922delAAAG	c.(2917-2922)acaaagfs	p.T973fs	NIPBL_uc003jkk.4_Frame_Shift_Del_p.T973fs|NIPBL_uc003jkm.1_Frame_Shift_Del_p.T852fs	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	973					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTCAGGAGACAAAGAAAATGGAAA	0.373													17	63	---	---	---	---					
SETD9	133383	broad.mit.edu	37	5	56210690	56210691	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr5:56210690_56210691delAG	uc003jqx.3	+	4	1095_1096	c.709_710delAG	c.(709-711)agafs	p.R237fs	SETD9_uc021xyu.1_Frame_Shift_Del_p.R237fs	NM_153706	NP_714917	Q8NE22	CE035_HUMAN	Homo sapiens chromosome 5 open reading frame 35 (C5orf35), transcript variant 1, mRNA.	237																	GTTCCTAGACAGAGCAGCTAAT	0.356													11	85	---	---	---	---					
DMXL1	1657	broad.mit.edu	37	5	118556763	118556765	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr5:118556763_118556765delGAG	uc010jcl.1	+	36	8445_8447	c.8264_8266delGAG	c.(8263-8268)agagga>aga	p.G2756del	DMXL1_uc003ksd.2_In_Frame_Del_p.G2735del|DMXL1_uc021ycw.1_In_Frame_Del_p.G2562del	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2735								p.T2755T(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAGACTGGCAGAGGAGCATCTGT	0.350													96	216	---	---	---	---					
ATXN1	6310	broad.mit.edu	37	6	16327916	16327918	+	In_Frame_Del	DEL	TGC	TGC	-	rs28555263		TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr6:16327916_16327918delTGC	uc003nbt.3	-	7	1595_1597	c.624_626delGCA	c.(622-627)cagcat>cat	p.Q208del	ATXN1_uc010jpi.3_In_Frame_Del_p.Q208del|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	208	Poly-Gln.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association	p.Q207H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgatgctgatgctgctgctgct	0.665													10	18	---	---	---	---					
SAMD9	54809	broad.mit.edu	37	7	92731495	92731495	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr7:92731495delT	uc003umf.3	-	2	4186	c.3916delA	c.(3916-3918)atafs	p.I1306fs	SAMD9_uc003umg.3_Frame_Shift_Del_p.I1306fs|SAMD9_uc022ahg.1_Frame_Shift_Del_p.I1306fs	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1306						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AGACAAAATATATCTACATAT	0.373													12	21	---	---	---	---					
KIAA2026	158358	broad.mit.edu	37	9	5923077	5923078	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr9:5923077_5923078delAC	uc003zjq.4	-	7	3134_3135	c.2918_2919delGT	c.(2917-2919)tgtfs	p.C973fs	KIAA2026_uc010mht.3_Frame_Shift_Del_p.C148fs	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	973										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATTCACTGAAACAGTCAATCTG	0.426													11	238	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24832228	24832229	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr10:24832228_24832229delAG	uc001iru.4	+	18	4432_4433	c.4029_4030delAG	c.(4027-4032)acagatfs	p.T1343fs	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Frame_Shift_Del_p.T1026fs|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Frame_Shift_Del_p.T179fs	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1343					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TTATCACGACAGATTTTGGCCA	0.411													132	175	---	---	---	---					
IGFBP6	3489	broad.mit.edu	37	12	53494509	53494509	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr12:53494509delT	uc001sbu.1	+	1	414	c.348delT	c.(346-348)aatfs	p.N116fs	SOAT2_uc001sbv.3_5'Flank|SOAT2_uc009zms.3_5'Flank	NM_002178	NP_002169	P24592	IBP6_HUMAN	Homo sapiens insulin-like growth factor binding protein 6 (IGFBP6), mRNA.	116					negative regulation of cell proliferation|regulation of cell growth|signal transduction					large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						CAGAGGAGAATCCTAAGGAGA	0.567													30	41	---	---	---	---					
HIF1A	3091	broad.mit.edu	37	14	62194216	62194223	+	Frame_Shift_Del	DEL	AACCAACC	AACCAACC	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr14:62194216_62194223delAACCAACC	uc001xfq.2	+	5	1020_1027	c.616_623delAACCAACC	c.(616-624)aaccaacctfs	p.N206fs	HIF1A_uc001xfr.2_Frame_Shift_Del_p.N206fs|HIF1A_uc001xfs.2_Frame_Shift_Del_p.N207fs|HIF1A_uc021rua.1_Frame_Shift_Del_p.N230fs	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 1, mRNA.	206	Interaction with TSGA10 (By similarity).				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TACCAACAGTAACCAACCTCAGTGTGGG	0.385													15	79	---	---	---	---					
HIF1A	3091	broad.mit.edu	37	14	62194225	62194225	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr14:62194225delC	uc001xfq.2	+	5	1029	c.625delC	c.(625-627)cagfs	p.Q209fs	HIF1A_uc001xfr.2_Frame_Shift_Del_p.Q209fs|HIF1A_uc001xfs.2_Frame_Shift_Del_p.Q210fs|HIF1A_uc021rua.1_Frame_Shift_Del_p.Q233fs	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 1, mRNA.	209	Interaction with TSGA10 (By similarity).				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TAACCAACCTCAGTGTGGGTA	0.383													15	84	---	---	---	---					
CFDP1	10428	broad.mit.edu	37	16	75446511	75446512	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P4-A5E8-01A-11D-A28G-10	TCGA-P4-A5E8-11A-12D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ca2f452-c444-436c-a256-a2e6c6d596d6	98665cdb-4732-42e2-9034-a7b233b8abb2	g.chr16:75446511_75446512insT	uc002fdy.3	-	2	460_461	c.323_324insA	c.(322-324)aagfs	p.K108fs	CFDP1_uc002fdz.3_Splice_Site_p.K23_splice|CFDP1_uc002fea.1_Frame_Shift_Ins_p.K108fs	NM_006324	NP_006315	Q9UEE9	CFDP1_HUMAN	Homo sapiens craniofacial development protein 1 (CFDP1), mRNA.	108	Glu-rich.				multicellular organismal development					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						CGTCCTCCTTCTTTTTCCTGGC	0.485													7	205	---	---	---	---					
