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
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368000													4	76					0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30087508	30087508	+	Missense_Mutation	SNP	A	A	G			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr7:30087508A>G	ENST00000449726.1	+	4	724	c.374A>G	c.(373-375)gAc>gGc	p.D125G	PLEKHA8_ENST00000396257.2_Missense_Mutation_p.D125G|PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.D125G|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.D125G	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	125					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CTCTACTGTGACCTCCTTGTT	0.313000													5	82					0	0	1	0	0
C1orf162	128346	broad.mit.edu	37	1	112020367	112020367	+	Silent	SNP	C	C	G			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr1:112020367C>G	ENST00000343534.5	+	5	547	c.297C>G	c.(295-297)gcC>gcG	p.A99A	C1orf162_ENST00000464591.1_Intron|C1orf162_ENST00000369718.3_Silent_p.A74A	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	99						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGCCCCAGGCCCCAGATCCTC	0.552000													56	117					0	0	1	0	0
FAM86FP	0	broad.mit.edu	37	12	8386955	8386955	+	RNA	SNP	T	T	C	rs75997195		TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr12:8386955T>C	ENST00000427893.2	-	0	811																											CTTGTGCTCCTGGCAGGCAGC	0.612000													7	194					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	85					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466010	10466010	+	Missense_Mutation	SNP	C	C	A			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr8:10466010C>A	ENST00000382483.3	-	4	5821	c.5598G>T	c.(5596-5598)gaG>gaT	p.E1866D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1866					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGCTGGGCCTCCCCTTCAG	0.627000													61	261					3.30712e-30	3.69295e-30	1	1	0
GBA2	57704	broad.mit.edu	37	9	35748347	35748347	+	Missense_Mutation	SNP	A	A	C			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr9:35748347A>C	ENST00000378094.4	-	1	868	c.355T>G	c.(355-357)Ttg>Gtg	p.L119V	GBA2_ENST00000378103.3_Missense_Mutation_p.L119V|GBA2_ENST00000545786.1_Missense_Mutation_p.L119V			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	119					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTCACCTCAAGCCCATGCCT	0.483000													44	62					0	0	1	0	0
YBX2	51087	broad.mit.edu	37	17	7193617	7193617	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr17:7193617G>A	ENST00000007699.5	-	5	760	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	233	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CGCACAAACCGCCGTCGGTAG	0.652000													174	216					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				46	52					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30695427	30695427	+	Silent	SNP	G	G	A			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr8:30695427G>A	ENST00000256246.2	-	3	7298	c.7224C>T	c.(7222-7224)tgC>tgT	p.C2408C		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2408								p.C2408*(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACTTTGATGCGCAAGTGTCTT	0.368000													14	314					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													6	41					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18846098	18846098	+	RNA	SNP	G	G	A	rs9306211		TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622000													6	50					0	0	1	0	0
ZNF706	51123	broad.mit.edu	37	8	102213962	102213962	+	Missense_Mutation	SNP	C	C	G			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr8:102213962C>G	ENST00000520347.1	-	2	2964	c.8G>C	c.(7-9)cGt>cCt	p.R3P	ZNF706_ENST00000311212.4_Missense_Mutation_p.R3P|ZNF706_ENST00000519882.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519744.1_Missense_Mutation_p.R3P|ZNF706_ENST00000518336.1_Missense_Mutation_p.R3P|ZNF706_ENST00000517844.1_Missense_Mutation_p.R3P|ZNF706_ENST00000521272.1_Missense_Mutation_p.R3P|ZNF706_ENST00000520984.1_Missense_Mutation_p.R3P			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	3						intracellular	zinc ion binding	p.R3P(2)		large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGCTGTCCACGAGCCATATC	0.398000													7	33					0	0	1	0	0
S100PBP	64766	broad.mit.edu	37	1	33292091	33292091	+	Nonsense_Mutation	SNP	A	A	T			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr1:33292091A>T	ENST00000373475.5	+	3	645	c.391A>T	c.(391-393)Aaa>Taa	p.K131*	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Nonsense_Mutation_p.K131*|S100PBP_ENST00000398243.3_Nonsense_Mutation_p.K131*	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	131						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGCTCATACTAAACCATTAAA	0.413000													34	54					0	0	1	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48221042	48221042	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr17:48221042C>T	ENST00000316878.6	-	5	1542	c.1540G>A	c.(1540-1542)Ggg>Agg	p.G514R	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	514	Interacts with RGS2 (By similarity).|PDZ.				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						ATGTCTGCCCCGGCGCCCATG	0.627000													58	91					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7303197	7303197	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr12:7303197G>A	ENST00000537408.1	+	14	2877	c.2339G>A	c.(2338-2340)cGa>cAa	p.R780Q	CLSTN3_ENST00000266546.6_Missense_Mutation_p.R768Q			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	768					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TATCGGCTGCGACACGGAGCT	0.572000													24	49					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													4	85					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													5	24					5.9392e-07	6.12194e-07	1	1	0
TUBB8P7	0	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr16:90161578G>A	ENST00000567960.1	+	0	314				TUBB8P7_ENST00000564451.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													10	62					0	0	1	0	0
SNTA1	6640	broad.mit.edu	37	20	31996657	31996657	+	Silent	SNP	C	C	T			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr20:31996657C>T	ENST00000217381.2	-	7	1546	c.1275G>A	c.(1273-1275)gtG>gtA	p.V425V		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	425					muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TGTCGATGTGCACAGACAGGC	0.617000													10	137					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													4	77					0	0	1	0	0
RPL32P3	0	broad.mit.edu	37	3	129116292	129116292	+	RNA	SNP	A	A	C			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr3:129116292A>C	ENST00000514355.1	-	0	412																				lung(1)	1						AGCAAATCCCACCCTGCCAGT	0.512000													16	88					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34261476	34261476	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr18:34261476G>A	ENST00000257209.4	+	12	1510	c.1388G>A	c.(1387-1389)cGg>cAg	p.R463Q	FHOD3_ENST00000359247.4_Missense_Mutation_p.R463Q|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Missense_Mutation_p.R638Q|FHOD3_ENST00000445677.1_Missense_Mutation_p.R425Q	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	463					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GAGAGGCGGCGGCAGGAGAGA	0.433000													37	67					0	0	1	0	0
SIMC1	375484	broad.mit.edu	37	5	175763804	175763804	+	Silent	SNP	A	A	C			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr5:175763804A>C	ENST00000443967.1	+	10	2603	c.2196A>C	c.(2194-2196)acA>acC	p.T732T	SIMC1_ENST00000430704.2_Silent_p.T317T|SIMC1_ENST00000332772.4_Silent_p.T193T|SIMC1_ENST00000341199.6_Silent_p.T317T					SUMO-interacting motifs containing 1																		GCTGTGAGACACCCACCCGCC	0.478000													9	95					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	85					0	0	1	0	0
FOXD2	2306	broad.mit.edu	37	1	47904295	47904295	+	Missense_Mutation	SNP	A	A	G			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr1:47904295A>G	ENST00000334793.5	+	1	2607	c.488A>G	c.(487-489)tAc>tGc	p.Y163C		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	163					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		CGCTTCCCCTACTACCGGGAG	0.622000													71	90					0	0	1	0	0
NSUN5P1	0	broad.mit.edu	37	7	75044431	75044431	+	RNA	SNP	C	C	T	rs236650	by1000genomes	TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr7:75044431C>T	ENST00000393633.2	+	0	3599																				large_intestine(1)|lung(1)	2						GCTGGACCCCCGCCAGGCTCC	0.632000													4	54					0	0	1	0	0
BTD	686	broad.mit.edu	37	3	15686446	15686446	+	Silent	SNP	T	T	C			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr3:15686446T>C	ENST00000383778.4	+	4	1381	c.1023T>C	c.(1021-1023)ttT>ttC	p.F341F	BTD_ENST00000449107.1_Silent_p.F363F|BTD_ENST00000437172.1_Silent_p.F363F|BTD_ENST00000303498.5_Silent_p.F361F			P43251	BTD_HUMAN	biotinidase	361	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						ATAGTAAGTTTTTAAAAATTT	0.473000													89	104					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35444296	35444296	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr20:35444296G>A	ENST00000237536.4	-	5	1890	c.1549C>T	c.(1549-1551)Cag>Tag	p.Q517*	SOGA1_ENST00000456801.2_Nonsense_Mutation_p.Q120*|SOGA1_ENST00000279034.5_Nonsense_Mutation_p.Q279*|SOGA1_ENST00000357779.3_Nonsense_Mutation_p.Q279*	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	279										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCGACAAACTGCAGGTGTCGC	0.667000													8	15					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	G	A			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557000													11	32					0	0	1	0	0
RD3	343035	broad.mit.edu	37	1	211654749	211654749	+	Silent	SNP	G	G	A			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr1:211654749G>A	ENST00000367002.4	-	2	1172	c.9C>T	c.(7-9)ctC>ctT	p.L3L	RD3_ENST00000484910.1_Intron	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	3					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GCCATGAGATGAGAGACATAG	0.607000													6	75					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													4	85					0	0	1	0	0
PLEKHM1P	0	broad.mit.edu	37	17	62818136	62818136	+	RNA	SNP	G	G	C			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr17:62818136G>C	ENST00000582986.1	-	0	362					NR_024386.1																						CTGAAGAATGGGAAATGGAAT	0.572000													9	85					0	0	1	0	0
SRGAP2B	0	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108																											tcgctcacgctggagctgtaga	0.535													8	34	---	---	---	---					
ABL2	27	broad.mit.edu	37	1	179077737	179077738	+	Frame_Shift_Ins	INS	-	-	G			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr1:179077737_179077738insG	ENST00000502732.1	-	12	2867_2868	c.2664_2665insC	c.(2662-2667)ccagggfs	p.G889fs	ABL2_ENST00000367623.4_Frame_Shift_Ins_p.G868fs|ABL2_ENST00000408940.3_Frame_Shift_Ins_p.G853fs|ABL2_ENST00000507173.1_Frame_Shift_Ins_p.G765fs|ABL2_ENST00000344730.3_Frame_Shift_Ins_p.G771fs|ABL2_ENST00000511413.1_Frame_Shift_Ins_p.G786fs|ABL2_ENST00000504405.1_Frame_Shift_Ins_p.G750fs|ABL2_ENST00000512653.1_Frame_Shift_Ins_p.G874fs	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	889	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCTTTACCCTTGGGGGCAGCTG	0.619			T	ETV6	AML								11	112	---	---	---	---					
TRBV6-5	0	broad.mit.edu	37	7	142180819	142180821	+	RNA	DEL	AGG	AGG	-			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr7:142180819_142180821delAGG	ENST00000390368.2	-	0	115																											CCTGCAGAGAAGGAGAACAAAGC	0.557													12	188	---	---	---	---					
ODF1	4956	broad.mit.edu	37	8	103572989	103573015	+	In_Frame_Del	DEL	CCCCTGCAGCCCCTGCAGCCCCTGCAA	CCCCTGCAGCCCCTGCAGCCCCTGCAA	-	rs3018444	byFrequency	TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr8:103572989_103573015delCCCCTGCAGCCCCTGCAGCCCCTGCAA	ENST00000285402.3	+	2	786_812	c.630_656delCCCCTGCAGCCCCTGCAGCCCCTGCAA	c.(628-657)agc>ag	p.SPCSPCSPCN210del	ODF1_ENST00000518835.1_Splice_Site_p.SPCSPCSPCN3_splice	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	210	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	p.C218_P226delCNPCSPCNP(1)|p.P217P(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CTCCTtgcagcccctgcagcccctgcagcccctgcaacccctgcagc	0.555													14	130	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396278	118396279	+	RNA	INS	-	-	T	rs11197776	by1000genomes	TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr10:118396278_118396279insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		ACAAATTATGGTTTTTTTTTTC	0.426													4	7	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651200	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCC	rs71025763		TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr11:1651199_1651200insGGCTGTGGCTCC	ENST00000399676.2	+	1	167_168	c.129_130insGGCTGTGGCTCC	c.(127-132)gggctg>ggGGCTGTGGCTCCgctg	p.43_44GL>GAVAPL		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	43				G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtggggg	0.713													38	26	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs35342965	by1000genomes	TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGAGGAACAAGTGGTGCCTAAG	0.416													15	5	---	---	---	---					
OR4N2	390429	broad.mit.edu	37	14	20296055	20296056	+	Frame_Shift_Ins	INS	-	-	T	rs149523724	by1000genomes	TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr14:20296055_20296056insT	ENST00000568211.1	+	1	448_449	c.448_449insT	c.(448-450)tggfs	p.W150fs	OR4N2_ENST00000315947.1_Frame_Shift_Ins_p.W150fs			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCTCTGTGGCTTGGGGGTTTT	0.530													85	502	---	---	---	---					
OR4N4	283694	broad.mit.edu	37	15	22382920	22382921	+	Frame_Shift_Ins	INS	-	-	T			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr15:22382920_22382921insT	ENST00000328795.4	+	1	539_540	c.448_449insT	c.(448-450)tggfs	p.W150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGCTCTGTGGCTTGGGGGTTTT	0.535													28	207	---	---	---	---					
RRN3P2	0	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120		TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr16:29113498delT	ENST00000564580.1	+	0	1360																											AGGAGGTGGAttttttttttc	0.542													7	45	---	---	---	---					
PLCG2	5336	broad.mit.edu	37	16	81944307	81944308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr16:81944307_81944308insC	ENST00000359376.3	+	18	2130_2131	c.1916_1917insC	c.(1915-1917)accfs	p.T639fs		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	639					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCCAACCCCAACCCCCACGAGT	0.653													7	377	---	---	---	---					
C17orf97	400566	broad.mit.edu	37	17	263586	263645	+	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	rs71369083	byFrequency	TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr17:263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	ENST00000360127.6	+	2	968_1027	c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	c.(952-1011)del	p.DPEALKGFHPDPKALKGFHP318del	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	348	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.G334G(4)|p.P327P(1)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TTTCCACACTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGG	0.681													21	102	---	---	---	---					
PFAS	5198	broad.mit.edu	37	17	8167575	8167576	+	Frame_Shift_Ins	INS	-	-	A			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr17:8167575_8167576insA	ENST00000314666.6	+	16	1970_1971	c.1837_1838insA	c.(1837-1839)gggfs	p.G613fs	PFAS_ENST00000545834.1_Frame_Shift_Ins_p.G189fs|PFAS_ENST00000585319.1_3'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	613					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAGAAATGGCCAGGGGGATGCC	0.604													7	119	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gac>ga	p.ED710del	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													15	186	---	---	---	---					
KRTAP10-6	386674	broad.mit.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs71199613		TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	ENST00000400368.1	-	1	166_167	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)cgc>cCAGCTGCTGCGCCCCgc	p.48_49insPAAAP	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	48	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688													8	112	---	---	---	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chr22:30742328_30742330delCTG	ENST00000215793.7	-	3	518_520	c.364_366delCAG	c.(364-366)del	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606													7	205	---	---	---	---					
MAGEC1	9947	broad.mit.edu	37	X	140994638	140994640	+	In_Frame_Del	DEL	GCT	GCT	-	rs144357389	byFrequency	TCGA-J8-A3O2-06A-11D-A23M-08	TCGA-J8-A3O2-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4cb019d-5154-46eb-b469-6f029d16b140	899b05a1-7e18-4e92-8cb0-94a6c8efcd64	g.chrX:140994638_140994640delGCT	ENST00000285879.4	+	4	1734_1736	c.1448_1450delGCT	c.(1447-1452)acc>a	p.SS487del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	487							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCCTGTGAGCTCCTCCTCCTC	0.473										HNSCC(15;0.026)			7	281	---	---	---	---					
