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
ARX	170302	broad.mit.edu	37	X	25028406	25028406	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chrX:25028406T>A	ENST00000379044.4	-	3	1300	c.1090A>T	c.(1090-1092)Agg>Tgg	p.R364W		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	364						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						AAGTCCAGCCTCATGGCCAGT	0.597000													30	11					0	0	0.827153	0	0
CAMLG	819	broad.mit.edu	37	5	134074397	134074397	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:134074397G>A	ENST00000297156.2	+	1	207	c.87G>A	c.(85-87)gcG>gcA	p.A29A	CAMLG_ENST00000514518.1_Silent_p.A29A	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	29					defense response	endoplasmic reticulum|integral to membrane				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	AGCGTCGGGCGGAGCTGCGTC	0.672000													3	55					0	0	0.184627	0	0
CTD-3074O7.11	0	broad.mit.edu	37	11	66288833	66288833	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:66288833C>G	ENST00000419755.3	+	9	1005	c.927C>G	c.(925-927)atC>atG	p.I309M	ZDHHC24_ENST00000526986.1_3'UTR|BBS1_ENST00000393994.2_Intron|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Missense_Mutation_p.I272M|BBS1_ENST00000537537.1_Missense_Mutation_p.I160M|BBS1_ENST00000455748.2_Missense_Mutation_p.I175M																							ATGGAAACATCTATATTCTGA	0.552000													16	25					0	0	0.557998	0	0
FRY	10129	broad.mit.edu	37	13	32783164	32783164	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:32783164C>G	ENST00000380250.3	+	32	4689	c.4193C>G	c.(4192-4194)tCt>tGt	p.S1398C		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GTGACTGCTTCTCACGGGCTG	0.592000													38	91					0	0	0.827153	0	0
MUC16	94025	broad.mit.edu	37	19	9017366	9017366	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:9017366C>T	ENST00000397910.4	-	26	38161	c.37958G>A	c.(37957-37959)aGg>aAg	p.R12653K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12655	SEA 4.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGACTGTTCCTGTCCAGGGT	0.567000													259	52					0	0	0.870114	0	0
WDR36	134430	broad.mit.edu	37	5	110441021	110441021	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:110441021C>T	ENST00000506538.2	+	10	1796	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	WDR36_ENST00000505303.1_Missense_Mutation_p.S352F|WDR36_ENST00000513710.2_Missense_Mutation_p.S408F	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	408					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CAGTCATTTTCCACGGTACAT	0.348000													6	19					0	0	0.248553	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147600709	147600709	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:147600709C>T	ENST00000361727.3	+	14	2667	c.2151C>T	c.(2149-2151)taC>taT	p.Y717Y		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	717	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGCACTACTACTGGGGAGGCT	0.512000										HNSCC(39;0.1)			6	21					0	0	0.307466	0	0
SV2B	9899	broad.mit.edu	37	15	91769539	91769539	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr15:91769539A>G	ENST00000394232.1	+	2	516	c.46A>G	c.(46-48)Agt>Ggt	p.S16G	SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.S16G|SV2B_ENST00000557291.1_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	16					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CTATGCTCCCAGTGATGGCTA	0.522000													20	30					0	0	0.624587	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77094406	77094406	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:77094406G>A	ENST00000328299.3	+	5	981	c.833G>A	c.(832-834)aGg>aAg	p.R278K		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	278					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GGGGGTCATAGGTTTATCACT	0.378000													16	32					0	0	0.520397	0	0
ANO1	55107	broad.mit.edu	37	11	70028637	70028637	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:70028637C>T	ENST00000355303.5	+	24	2738	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F	ANO1_ENST00000531349.1_Silent_p.F520F|ANO1_ENST00000538023.1_Silent_p.F811F|ANO1_ENST00000530676.1_Silent_p.F665F|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000398543.2_Silent_p.F665F	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	811					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CGTCTGACTTCATCCCGCGCC	0.612000													22	42					0	0	0.706142	0	0
PSMA7	5688	broad.mit.edu	37	20	60712444	60712444	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr20:60712444G>A	ENST00000370873.4	-	6	756	c.630C>T	c.(628-630)gtC>gtT	p.V210V	PSMA7_ENST00000370861.1_Silent_p.V140V|PSMA7_ENST00000484488.1_5'UTR	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	210					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CTCGCCTCATGACAGCAAGTT	0.463000											OREG0026105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	125	75					0	0	0.870114	0	0
FAM71A	149647	broad.mit.edu	37	1	212798352	212798352	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:212798352A>T	ENST00000294829.3	+	1	564	c.133A>T	c.(133-135)Ata>Tta	p.I45L	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	45										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GTATGCACCGATATTTGAGAG	0.512000													44	114					0	0	0.870114	0	0
KLHL22	84861	broad.mit.edu	37	22	20812254	20812254	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr22:20812254G>C	ENST00000328879.4	-	5	1302	c.1146C>G	c.(1144-1146)atC>atG	p.I382M	KLHL22_ENST00000440659.2_Missense_Mutation_p.I239M	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	382					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCAGGGACTGGATCTGGAACC	0.602000													24	46					0	0	0.769981	0	0
TPTE	7179	broad.mit.edu	37	21	10934109	10934109	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr21:10934109A>C	ENST00000298232.7	-	15	1181	c.814T>G	c.(814-816)Tac>Gac	p.Y272D	TPTE_ENST00000361285.4_Missense_Mutation_p.Y290D|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.Y252D	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	290	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTAGGATCGTAAGCTCTTTCA	0.303000													14	74					0	0	0.479597	0	0
HESX1	8820	broad.mit.edu	37	3	57232284	57232284	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:57232284G>T	ENST00000295934.3	-	4	535	c.499C>A	c.(499-501)Cat>Aat	p.H167N	HESX1_ENST00000473921.1_Missense_Mutation_p.H133N	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	167						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		GATTCTCTATGGGACCTTTTC	0.299000													3	21					0.00024832	0.000252676	0.150653	1	0
FBXL7	23194	broad.mit.edu	37	5	15500819	15500819	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:15500819G>A	ENST00000504595.1	+	1	515	c.34G>A	c.(34-36)Gag>Aag	p.E12K		NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	12					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GTACGGCAGTGAGGGTGAGTG	0.692000													100	280					0	0	0.870114	0	0
IRX2	153572	broad.mit.edu	37	5	2749625	2749625	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:2749625T>C	ENST00000382611.6	-	2	774	c.526A>G	c.(526-528)Aac>Gac	p.N176D	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.N176D	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	176						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GTCATCTTGTTCTCCTTCTTG	0.597000													31	91					0	0	0.819951	0	0
PTGIR	5739	broad.mit.edu	37	19	47124612	47124612	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:47124612G>A	ENST00000291294.2	-	3	1219	c.1086C>T	c.(1084-1086)ccC>ccT	p.P362P	PTGIR_ENST00000598865.1_Silent_p.P150P|PTGIR_ENST00000594275.1_Silent_p.P119P|PTGIR_ENST00000597185.1_Silent_p.P91P	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	362					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	ACTGCTGTGTGGGAGGCAAGG	0.657000													53	15					0	0	0.870114	0	0
PLEKHF2	79666	broad.mit.edu	37	8	96166422	96166422	+	Silent	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:96166422C>G	ENST00000315367.3	+	2	391	c.150C>G	c.(148-150)ccC>ccG	p.P50P	PLEKHF2_ENST00000519516.1_Silent_p.P50P	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	50	PH.					transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					GGAAAAAGCCCAAAGCAAGGC	0.358000													17	63					0	0	0.557998	0	0
DACH1	1602	broad.mit.edu	37	13	72440381	72440381	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:72440381G>C	ENST00000305425.4	-	1	949	c.527C>G	c.(526-528)tCa>tGa	p.S176*	DACH1_ENST00000359684.2_Nonsense_Mutation_p.S176*|DACH1_ENST00000313174.7_Nonsense_Mutation_p.S176*|DACH1_ENST00000354591.4_Nonsense_Mutation_p.S176*	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	174					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GGACGGGGTTGAGTACACGGG	0.607000													6	14					0	0	0.217242	0	0
RABEP1	9135	broad.mit.edu	37	17	5257704	5257704	+	Silent	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:5257704A>G	ENST00000262477.6	+	8	1238	c.1014A>G	c.(1012-1014)gcA>gcG	p.A338A	RABEP1_ENST00000408982.2_Silent_p.A338A|RABEP1_ENST00000546142.2_Silent_p.A338A|RABEP1_ENST00000537505.1_Silent_p.A295A|RABEP1_ENST00000341923.6_Silent_p.A338A	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	338					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						ACAAAAAAGCAGATGTTGAGG	0.323000													8	30					0	0	0.335167	0	0
SYNE2	23224	broad.mit.edu	37	14	64690078	64690078	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr14:64690078A>G	ENST00000357395.3	+	113	20592	c.9448A>G	c.(9448-9450)Atg>Gtg	p.M3150V	SYNE2_ENST00000358025.3_Missense_Mutation_p.M6788V|SYNE2_ENST00000458046.2_Missense_Mutation_p.M436V|SYNE2_ENST00000394768.2_Missense_Mutation_p.M3150V|SYNE2_ENST00000555022.1_Missense_Mutation_p.M643V|SYNE2_ENST00000344113.4_Missense_Mutation_p.M6765V|SYNE2_ENST00000441438.2_Missense_Mutation_p.M310V|SYNE2_ENST00000554584.1_Missense_Mutation_p.M6681V|SYNE2_ENST00000554805.1_Missense_Mutation_p.M548V|SYNE2_ENST00000555002.1_Missense_Mutation_p.M3422V|ESR2_ENST00000542956.1_Intron			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6765					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCAAGATTTAATGGCCTTGCA	0.428000													15	28					0	0	0.520397	0	0
LRP5	4041	broad.mit.edu	37	11	68174203	68174203	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:68174203C>T	ENST00000294304.7	+	9	2119	c.2013C>T	c.(2011-2013)ctC>ctT	p.L671L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	671	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCATCCCGCTCACGGGCGTCA	0.587000													10	29					0	0	0.361761	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764201	77764201	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:77764201C>G	ENST00000521891.2	+	10	5492	c.5044C>G	c.(5044-5046)Caa>Gaa	p.Q1682E	ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1637E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1656E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1637E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1637	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATCTCTGCTCAACCTGCACA	0.403000										HNSCC(33;0.089)			11	43					0	0	0.361761	0	0
MIEN1	84299	broad.mit.edu	37	17	37885818	37885818	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:37885818A>G	ENST00000394231.3	-	4	596	c.305T>C	c.(304-306)cTa>cCa	p.L102P	MIEN1_ENST00000577810.1_3'UTR|MIEN1_ENST00000474210.1_5'UTR|ERBB2_ENST00000584888.1_Intron			Q9BRT3	CQ037_HUMAN	migration and invasion enhancer 1	102					cell redox homeostasis	cytosol|membrane	selenium binding										GATCTTTTCTAGGGTTTCTCC	0.542000													40	190					0	0	0.847076	0	0
FUS	2521	broad.mit.edu	37	16	31202302	31202302	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr16:31202302A>G	ENST00000254108.7	+	14	1517	c.1412A>G	c.(1411-1413)gAt>gGt	p.D471G	FUS_ENST00000568685.1_Missense_Mutation_p.D472G|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Missense_Mutation_p.D470G	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	471	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TACGGGGATGATCGTCGTGGT	0.592000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								53	101					0	0	0.870114	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102476256	102476256	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr14:102476256G>C	ENST00000360184.4	+	30	6218	c.6054G>C	c.(6052-6054)atG>atC	p.M2018I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2018	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCATCACCATGAACCCTGGCT	0.547000													31	50					0	0	0.788014	0	0
CMYA5	202333	broad.mit.edu	37	5	79030171	79030171	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:79030171G>T	ENST00000446378.2	+	2	5614	c.5583G>T	c.(5581-5583)ttG>ttT	p.L1861F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1861						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGAGAATTTGCCTTTGGAAC	0.343000													8	34					2.17888e-05	2.23277e-05	0.335167	1	0
CCND3	896	broad.mit.edu	37	6	42016405	42016405	+	Translation_Start_Site	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:42016405C>T	ENST00000372988.4	-	0	301				CCND3_ENST00000511686.1_5'UTR|CCND3_ENST00000510503.1_De_novo_Start_OutOfFrame|CCND3_ENST00000415497.2_De_novo_Start_OutOfFrame|CCND3_ENST00000511642.1_Intron	NM_001136017.2	NP_001129489.1	P30281	CCND3_HUMAN	cyclin D3						cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAGTCTCCACCCCTGCAGTG	0.672000			T	IGH@	MM								14	22					0	0	0.539581	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000													3	136					0	0	0.115264	0	0
MLLT6	4302	broad.mit.edu	37	17	36869255	36869255	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:36869255G>A	ENST00000378137.5	+	9	960	c.869G>A	c.(868-870)gGg>gAg	p.G290E	MLLT6_ENST00000325718.7_Intron			P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	0					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGGAGTTTGGGGTGCTGTCTG	0.597000			T	MLL	AL								63	77					0	0	0.870114	0	0
HOXA10	3206	broad.mit.edu	37	7	27213894	27213894	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:27213894G>A	ENST00000283921.4	-	1	31	c.32C>T	c.(31-33)tCg>tTg	p.S11L	RP1-170O19.20_ENST00000465941.1_Intron|RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000396344.4_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	11					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						ATAATTTGGCGAAGGGAGCAG	0.587000													46	86					0	0	0.853193	0	0
PRSS8	5652	broad.mit.edu	37	16	31144121	31144121	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr16:31144121G>A	ENST00000317508.6	-	4	683	c.420C>T	c.(418-420)ctC>ctT	p.L140L	PRSS8_ENST00000568261.1_Silent_p.L86L	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	140	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						TGGGTCTGCTGAGTTGGAGGA	0.642000													279	88					0	0	0.870114	0	0
ACPP	55	broad.mit.edu	37	3	132056364	132056364	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:132056364C>T	ENST00000336375.5	+	5	611	c.521C>T	c.(520-522)tCa>tTa	p.S174L	ACPP_ENST00000475741.1_Intron|ACPP_ENST00000351273.7_Missense_Mutation_p.S174L	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	174						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ACTTTGAAATCAGAGGAATTC	0.398000													53	10					0	0	0.870114	0	0
CDC20B	166979	broad.mit.edu	37	5	54410097	54410097	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:54410097C>T	ENST00000296733.1	-	12	1671	c.1497G>A	c.(1495-1497)cgG>cgA	p.R499R	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000381375.2_Silent_p.R503R|CDC20B_ENST00000322374.6_Silent_p.R461R	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	503										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			cagaaaacacccgggtctggt	0.532000													35	74					0	0	0.769981	0	0
GSTA5	221357	broad.mit.edu	37	6	52698951	52698951	+	Silent	SNP	A	A	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:52698951A>C	ENST00000370989.2	-	4	431	c.402T>G	c.(400-402)ccT>ccG	p.P134P	GSTA5_ENST00000284562.2_Silent_p.P134P|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5		GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTTCAAAGGCAGGGAAGTAGC	0.423000													52	92					0	0	0.870114	0	0
PHACTR2	9749	broad.mit.edu	37	6	143929448	143929448	+	Translation_Start_Site	SNP	T	T	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:143929448T>C	ENST00000427704.2	+	1	132	c.2T>C	c.(1-3)aTg>aCg	p.M1T	PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000305766.6_Start_Codon_SNP_p.M1T	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	1							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCCTGAGACATGGACAACGCC	0.542000													18	31					0	0	0.639603	0	0
AES	166	broad.mit.edu	37	19	3053861	3053861	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:3053861C>T	ENST00000221561.8	-	7	930	c.751G>A	c.(751-753)Gat>Aat	p.D251N	AES_ENST00000592330.1_Intron|AES_ENST00000327141.4_Missense_Mutation_p.D184N|AES_ENST00000586839.1_Missense_Mutation_p.D128N	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	184					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTCACCATCGTGCCCGTTC	0.682000													19	83					0	0	0.681144	0	0
SYBU	55638	broad.mit.edu	37	8	110588178	110588178	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:110588178C>G	ENST00000399066.3	-	6	1667	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	SYBU_ENST00000424158.2_Missense_Mutation_p.E322Q|SYBU_ENST00000422135.1_Missense_Mutation_p.E317Q|SYBU_ENST00000533065.1_Missense_Mutation_p.E198Q|SYBU_ENST00000440310.1_Missense_Mutation_p.E317Q|SYBU_ENST00000528331.1_Missense_Mutation_p.E198Q|SYBU_ENST00000408889.3_Missense_Mutation_p.E198Q|SYBU_ENST00000446070.2_Missense_Mutation_p.E316Q|SYBU_ENST00000408908.2_Missense_Mutation_p.E317Q|SYBU_ENST00000433638.1_Missense_Mutation_p.E317Q|SYBU_ENST00000276646.9_Missense_Mutation_p.E317Q|SYBU_ENST00000533171.1_Missense_Mutation_p.E317Q|SYBU_ENST00000533895.1_Missense_Mutation_p.E316Q|SYBU_ENST00000529690.1_Missense_Mutation_p.E187Q|SYBU_ENST00000528647.1_Missense_Mutation_p.E316Q|SYBU_ENST00000532779.1_Missense_Mutation_p.E249Q|SYBU_ENST00000529175.1_Missense_Mutation_p.E111Q|SYBU_ENST00000419099.1_Missense_Mutation_p.E316Q	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	317	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CGGTGACACTCCTCCTCAATC	0.502000													26	73					0	0	0.681144	0	0
MED1	5469	broad.mit.edu	37	17	37563898	37563898	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:37563898G>C	ENST00000300651.6	-	17	4799	c.4576C>G	c.(4576-4578)Cat>Gat	p.H1526D	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1526	Lys-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.H1526Y(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTGATGCTATGAGATTTTTTC	0.428000										HNSCC(31;0.082)			21	83					0	0	0.639603	0	0
CDC73	79577	broad.mit.edu	37	1	193121533	193121533	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:193121533A>G	ENST00000367435.3	+	10	1115	c.931A>G	c.(931-933)Act>Gct	p.T311A		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	311					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CAAAATTGACACTATGGGAAC	0.333000													12	11					0	0	0.500413	0	0
KIAA1683	80726	broad.mit.edu	37	19	18378333	18378333	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:18378333C>G	ENST00000392413.4	-	3	232	c.17G>C	c.(16-18)aGa>aCa	p.R6T	KIAA1683_ENST00000600359.3_5'UTR|KIAA1683_ENST00000600328.3_Missense_Mutation_p.R6T	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGGTCAGCTCTGCCTGTGGG	0.652000													88	177					0	0	0.870114	0	0
CCR6	1235	broad.mit.edu	37	6	167550264	167550264	+	Silent	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:167550264T>G	ENST00000341935.5	+	3	1098	c.546T>G	c.(544-546)acT>acG	p.T182T	CCR6_ENST00000349984.4_Silent_p.T182T|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Silent_p.T182T	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	182				T -> S (in Ref. 4; AAB06949).	cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CCAGCTCAACTTTTGTCTTCA	0.517000													35	40					0	0	0.804634	0	0
PRX	57716	broad.mit.edu	37	19	40909668	40909668	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:40909668G>A	ENST00000291825.7	-	5	397	c.129C>T	c.(127-129)ttC>ttT	p.F43F	PRX_ENST00000324001.7_Silent_p.F43F	NM_020956.2	NP_066007.1	Q9BXM0	PRAX_HUMAN	periaxin	43	PDZ.				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCCCGAACGAAGATTCCCT	0.701000													5	15					0	0	0.217242	0	0
HUWE1	10075	broad.mit.edu	37	X	53672365	53672365	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chrX:53672365G>A	ENST00000342160.3	-	6	859	c.402C>T	c.(400-402)gtC>gtT	p.V134V	HUWE1_ENST00000218328.8_Silent_p.V134V|HUWE1_ENST00000262854.6_Silent_p.V134V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	134					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGAGATTGAGGACTGCCAGCA	0.458000													17	8					0	0	0.575678	0	0
ALG5	29880	broad.mit.edu	37	13	37563687	37563687	+	Silent	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:37563687A>G	ENST00000239891.3	-	5	447	c.381T>C	c.(379-381)taT>taC	p.Y127Y	ALG5_ENST00000443765.1_Silent_p.Y97Y|ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000413537.2_Silent_p.Y127Y	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	127					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TGTCACTTCCATATTTCTGGC	0.284000													19	34					0	0	0.639603	0	0
MED15	51586	broad.mit.edu	37	22	20909319	20909319	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr22:20909319G>A	ENST00000263205.7	+	5	404	c.335G>A	c.(334-336)gGg>gAg	p.G112E	MED15_ENST00000382974.2_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000292733.7_Missense_Mutation_p.G112E|MED15_ENST00000406969.1_Missense_Mutation_p.G86E|MED15_ENST00000542773.1_Intron|MED15_ENST00000541476.1_Missense_Mutation_p.G86E	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	112					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TCTCTGGGCGGGATGGGTAGC	0.647000													3	58					0	0	0.150653	0	0
ZNF214	7761	broad.mit.edu	37	11	7022651	7022651	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:7022651T>G	ENST00000278314.4	-	3	578	c.263A>C	c.(262-264)cAa>cCa	p.Q88P	ZNF214_ENST00000536068.1_Missense_Mutation_p.Q88P	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		ATCTGTCCCTTGAACAGTTTC	0.438000													122	166					0	0	0.870114	0	0
OR4C46	119749	broad.mit.edu	37	11	51515382	51515382	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:51515382T>G	ENST00000328188.1	+	1	101	c.101T>G	c.(100-102)aTc>aGc	p.I34S		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GTCATCTATATCATCACTGTG	0.433000													51	86					0	0	0.870114	0	0
CD6	923	broad.mit.edu	37	11	60777201	60777201	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:60777201G>A	ENST00000313421.7	+	5	1125	c.939G>A	c.(937-939)gaG>gaA	p.E313E	CD6_ENST00000545105.1_Intron|CD6_ENST00000346437.4_Silent_p.E313E|CD6_ENST00000344028.5_Silent_p.E313E|CD6_ENST00000352009.5_Silent_p.E313E|CD6_ENST00000452451.2_Silent_p.E313E	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	313	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CTGCGGTTGAGAGGCCCAAGG	0.592000													29	54					0	0	0.769981	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47424411	47424411	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:47424411G>A	ENST00000404338.3	+	1	2479	c.2479G>A	c.(2479-2481)Gga>Aga	p.G827R		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	827					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										ACTACCAATCGGACTGCACAA	0.408000													23	33					0	0	0.681144	0	0
TRIO	7204	broad.mit.edu	37	5	14507245	14507245	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:14507245G>A	ENST00000344204.4	+	56	8651	c.8627G>A	c.(8626-8628)cGc>cAc	p.R2876H	TRIO_ENST00000344135.5_Missense_Mutation_p.R375H|TRIO_ENST00000537187.1_Missense_Mutation_p.R2700H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2876	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GACCAGGGTCGCCTCCTGGAC	0.567000													15	53					0	0	0.520397	0	0
SLC4A5	57835	broad.mit.edu	37	2	74462335	74462335	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:74462335C>A	ENST00000394019.2	-	22	2723	c.2326G>T	c.(2326-2328)Gcc>Tcc	p.A776S	SLC4A5_ENST00000423644.1_Missense_Mutation_p.A776S|SLC4A5_ENST00000346834.4_Missense_Mutation_p.A776S|SLC4A5_ENST00000357822.5_Missense_Mutation_p.A776S|SLC4A5_ENST00000359484.4_Intron|SLC4A5_ENST00000377634.4_Missense_Mutation_p.A776S|SLC4A5_ENST00000358683.4_Intron|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.A776S	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	776						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCCACCAGGGCCCGGACCTGC	0.532000													20	10					1.96292e-10	2.08516e-10	0.592651	1	0
ZNF536	9745	broad.mit.edu	37	19	31039640	31039640	+	Silent	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:31039640A>G	ENST00000355537.3	+	4	3261	c.3114A>G	c.(3112-3114)acA>acG	p.T1038T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1038					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCGGGGTCACAGTCAACTGCA	0.537000													32	104					0	0	0.779181	0	0
OR7G2	390882	broad.mit.edu	37	19	9213857	9213857	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:9213857C>T	ENST00000305456.2	-	1	125	c.126G>A	c.(124-126)ccG>ccA	p.P42P		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GCTGCAGTTCCGGATCCTCTA	0.468000													30	94					0	0	0.788014	0	0
SPTAN1	6709	broad.mit.edu	37	9	131388155	131388155	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:131388155C>T	ENST00000372739.3	+	48	6287	c.6177C>T	c.(6175-6177)atC>atT	p.I2059I	SPTAN1_ENST00000372731.4_Silent_p.I2054I|SPTAN1_ENST00000358161.5_Silent_p.I2059I	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2054					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCAAGGCCATCGAGGCCCGGC	0.602000													73	132					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179397839	179397839	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:179397839C>G	ENST00000589042.1	-	358	103727	c.103503G>C	c.(103501-103503)gaG>gaC	p.E34501D	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25561D|TTN_ENST00000460472.2_Missense_Mutation_p.E25436D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25628D|TTN_ENST00000591111.1_Missense_Mutation_p.E32860D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31933D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32860							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTCAGAGCCTCTTTAGCTA	0.428000													37	60					0	0	0.834066	0	0
MOGAT3	346606	broad.mit.edu	37	7	100841559	100841559	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:100841559G>A	ENST00000223114.4	-	5	747	c.581C>T	c.(580-582)gCg>gTg	p.A194V	MOGAT3_ENST00000379423.3_Missense_Mutation_p.A194V|MOGAT3_ENST00000440203.2_Missense_Mutation_p.A194V	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	194					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GGCCTCGTGCGCACCCCCCAC	0.677000													70	23					0	0	0.870114	0	0
KRT79	338785	broad.mit.edu	37	12	53215788	53215788	+	Silent	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:53215788C>G	ENST00000330553.5	-	9	1510	c.1476G>C	c.(1474-1476)ggG>ggC	p.G492G		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	492	Tail.					keratin filament	structural molecule activity	p.G492G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCCCCCACTCCCACCCAGGG	0.612000													39	55					0	0	0.847076	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50659212	50659212	+	Silent	SNP	A	A	G	rs141527317		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr22:50659212A>G	ENST00000439308.2	-	16	4068	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000248846.5_Silent_p.S1192S|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617000													4	121					0	0	0.217242	0	0
BIN2	51411	broad.mit.edu	37	12	51707619	51707619	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:51707619G>A	ENST00000267012.4	-	2	211	c.150C>T	c.(148-150)ttC>ttT	p.F50F	BIN2_ENST00000544402.1_Silent_p.F24F|BIN2_ENST00000452142.2_Silent_p.F50F|BIN2_ENST00000604560.1_Intron	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	50	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GTTGTTGGTAGAAGTTGCTAG	0.468000													34	43					0	0	0.827153	0	0
FOLH1B	219595	broad.mit.edu	37	11	89385754	89385754	+	RNA	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:89385754G>A	ENST00000532352.1	+	0	391							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CTCTCCTCAAGGAATGCCAGA	0.368000													8	27					0	0	0.361761	0	0
SPATA19	219938	broad.mit.edu	37	11	133715054	133715054	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:133715054G>C	ENST00000299140.3	-	2	164	c.110C>G	c.(109-111)tCt>tGt	p.S37C	SPATA19_ENST00000532889.1_Missense_Mutation_p.S37C	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	37					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		ATGTAGTACAGACACAGCCTC	0.458000													34	60					0	0	0.859065	0	0
ZNF626	199777	broad.mit.edu	37	19	20807986	20807986	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:20807986C>G	ENST00000601440.1	-	4	843	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTGCCACATTCTTCACATTTG	0.398000													11	41					0	0	0.457914	0	0
PIWIL1	9271	broad.mit.edu	37	12	130834457	130834457	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:130834457G>A	ENST00000245255.3	+	9	1261	c.989G>A	c.(988-990)aGc>aAc	p.S330N		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	330	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AATCCCAAGAGCACCTTTAAG	0.408000													14	46					0	0	0.520397	0	0
DSPP	1834	broad.mit.edu	37	4	88534106	88534106	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:88534106C>T	ENST00000399271.1	+	4	888	c.768C>T	c.(766-768)gaC>gaT	p.D256D	DSPP_ENST00000282478.7_Silent_p.D256D|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	256					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGGATGAAGACGAGGGTTCTG	0.507000													13	27					0	0	0.479597	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1841803	1841803	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:1841803G>A	ENST00000518288.1	+	13	1489	c.1326G>A	c.(1324-1326)agG>agA	p.R442R	ARHGEF10_ENST00000262112.6_Silent_p.R442R|ARHGEF10_ENST00000398564.1_Silent_p.R442R|ARHGEF10_ENST00000398560.1_Silent_p.R403R|ARHGEF10_ENST00000349830.3_Silent_p.R417R|ARHGEF10_ENST00000520359.1_Silent_p.R379R			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	442	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CTCTTAAGAGGATTTTGGAGG	0.313000													13	42					0	0	0.479597	0	0
PBX2	5089	broad.mit.edu	37	6	32157485	32157485	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:32157485C>T	ENST00000375050.4	-	1	478	c.208G>A	c.(208-210)Gag>Aag	p.E70K		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	70							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GCCTGGGCCTCGTCCAGGCTC	0.647000													31	34					0	0	0.840704	0	0
DPP10	57628	broad.mit.edu	37	2	116066873	116066873	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:116066873T>A	ENST00000410059.1	+	2	599	c.119T>A	c.(118-120)cTg>cAg	p.L40Q	DPP10_ENST00000393147.2_Missense_Mutation_p.L44Q|DPP10_ENST00000310323.8_Missense_Mutation_p.L33Q|DPP10_ENST00000409163.1_5'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	40	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATTGCTCTGCTGGTGATTTTA	0.408000													28	28					0	0	0.804634	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806241	97806241	+	Silent	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:97806241T>G	ENST00000358642.2	+	1	225	c.225T>G	c.(223-225)acT>acG	p.T75T		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATGCTTGTACTTCAACCTCTA	0.428000													46	125					0	0	0.870114	0	0
MLST8	64223	broad.mit.edu	37	16	2256159	2256159	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr16:2256159C>G	ENST00000569417.1	+	2	427	c.73C>G	c.(73-75)Cgc>Ggc	p.R25G	MLST8_ENST00000397124.1_Missense_Mutation_p.R25G|MLST8_ENST00000301724.10_Missense_Mutation_p.R25G|MLST8_ENST00000564088.1_Missense_Mutation_p.R25G|MLST8_ENST00000565250.1_Missense_Mutation_p.R25G|MLST8_ENST00000382450.4_Missense_Mutation_p.R25G|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000301725.7_Missense_Mutation_p.R44G	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	25					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CCACACCGTGCGCTTCTGGCA	0.706000													46	64					0	0	0.870114	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40823016	40823016	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:40823016C>G	ENST00000591022.1	-	9	1804	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	PLEKHH3_ENST00000456950.2_Intron|PLEKHH3_ENST00000412503.1_Intron|PLEKHH3_ENST00000293349.6_Intron	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	473	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		ATTTACTTCTCAAACCTGGTG	0.637000													69	252					0	0	0.870114	0	0
FSTL5	56884	broad.mit.edu	37	4	162421208	162421208	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:162421208T>C	ENST00000306100.5	-	12	1854	c.1418A>G	c.(1417-1419)cAg>cGg	p.Q473R	FSTL5_ENST00000379164.4_Missense_Mutation_p.Q472R|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q463R|FSTL5_ENST00000536695.1_Missense_Mutation_p.Q472R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	473						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATGTGCCTCTGAAATTCACA	0.338000													7	2					0	0	0.278610	0	0
NUP93	9688	broad.mit.edu	37	16	56870618	56870618	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr16:56870618G>A	ENST00000564887.1	+	15	2148	c.1519G>A	c.(1519-1521)Gac>Aac	p.D507N	NUP93_ENST00000569842.1_Missense_Mutation_p.D630N|NUP93_ENST00000542526.1_Missense_Mutation_p.D507N|NUP93_ENST00000308159.5_Missense_Mutation_p.D630N	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	630					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AAAGCTGTATGACCTTGCCAA	0.428000													14	20					0	0	0.500413	0	0
OR5D18	219438	broad.mit.edu	37	11	55587569	55587569	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:55587569C>A	ENST00000333976.4	+	1	484	c.464C>A	c.(463-465)tCa>tAa	p.S155*		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TGGGGAGTCTCATGTTCCTTG	0.478000													42	70					3.50607e-19	3.80809e-19	0.870114	1	0
USP14	9097	broad.mit.edu	37	18	179002	179002	+	Missense_Mutation	SNP	G	G	A	rs141269921	by1000genomes	TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr18:179002G>A	ENST00000261601.7	+	4	356	c.265G>A	c.(265-267)Gta>Ata	p.V89I	USP14_ENST00000400266.3_Missense_Mutation_p.V78I|USP14_ENST00000383589.2_Intron|USP14_ENST00000582707.1_Intron	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)						regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AACTGTCTTCGTAGAAGACAT	0.373000													25	22					0	0	0.750413	0	0
CCNL2	81669	broad.mit.edu	37	1	1325721	1325721	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:1325721C>A	ENST00000400809.3	-	8	900	c.895G>T	c.(895-897)Gaa>Taa	p.E299*	CCNL2_ENST00000408952.5_Nonsense_Mutation_p.E77*|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	299					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTTCTTTTTTCCACTTCACCC	0.552000													35	56					1.59361e-14	1.71165e-14	0.827153	1	0
PLIN3	10226	broad.mit.edu	37	19	4852049	4852049	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:4852049G>A	ENST00000221957.4	-	5	789	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S	PLIN3_ENST00000592528.1_Missense_Mutation_p.P193S|PLIN3_ENST00000585479.1_Missense_Mutation_p.P205S	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	205					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TCCGTAAGGGGCAGGTGGTTG	0.682000											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	81					0	0	0.639603	0	0
ABCC10	89845	broad.mit.edu	37	6	43400684	43400684	+	Silent	SNP	C	C	T	rs145760020		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:43400684C>T	ENST00000244533.3	+	1	1196	c.837C>T	c.(835-837)caC>caT	p.H279H	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Silent_p.H322H	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	322						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CACTAAGCCACGGCCTGCTCT	0.587000													34	57					0	0	0.819951	0	0
MUC16	94025	broad.mit.edu	37	19	9072253	9072253	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:9072253A>C	ENST00000397910.4	-	3	15396	c.15193T>G	c.(15193-15195)Tcc>Gcc	p.S5065A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5067	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATAGGAGAGGAGAGCTTATCC	0.478000													65	18					0	0	0.870114	0	0
OTOGL	283310	broad.mit.edu	37	12	80660235	80660235	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:80660235G>A	ENST00000458043.2	+	20	2208	c.2202G>A	c.(2200-2202)gtG>gtA	p.V734V	OTOGL_ENST00000547103.1_Silent_p.V734V	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CCTTAGCTGTGGTGTGCCAGA	0.473000													19	22					0	0	0.624587	0	0
KIT	3815	broad.mit.edu	37	4	55564535	55564535	+	Silent	SNP	A	A	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:55564535A>T	ENST00000288135.5	+	3	520	c.423A>T	c.(421-423)ccA>ccT	p.P141P		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	141	Ig-like C2-type 2.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCACAGACCCAGAAGTGACCA	0.512000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				12	29					0	0	0.479597	0	0
PROM1	8842	broad.mit.edu	37	4	16077403	16077403	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:16077403T>G	ENST00000505450.1	-	2	739	c.127A>C	c.(127-129)Acc>Ccc	p.T43P	PROM1_ENST00000539194.1_Missense_Mutation_p.T43P|PROM1_ENST00000540805.1_Missense_Mutation_p.T43P|PROM1_ENST00000543373.1_Missense_Mutation_p.T43P|PROM1_ENST00000447510.2_Missense_Mutation_p.T43P|PROM1_ENST00000510224.1_Missense_Mutation_p.T43P|PROM1_ENST00000508167.1_Missense_Mutation_p.T43P	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	43					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						GAGTCTTGGGTCTCATAATTT	0.488000													17	0					0	0	0.557998	0	0
KCNJ11	3767	broad.mit.edu	37	11	17409117	17409117	+	Silent	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:17409117G>T	ENST00000339994.4	-	1	1089	c.522C>A	c.(520-522)gcC>gcA	p.A174A	KCNJ11_ENST00000528731.1_Silent_p.A87A	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	87						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		CCCTGCGGTGGGCTTGGGCAG	0.597000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	21					3.62473e-10	3.8364e-10	0.608945	1	0
TMEM56	148534	broad.mit.edu	37	1	95609471	95609471	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:95609471C>G	ENST00000370203.4	+	2	305	c.14C>G	c.(13-15)aCa>aGa	p.T5R	RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.T5R|TMEM56_ENST00000463375.1_3'UTR	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	5						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		GAGATCAACACAAAACTGCTC	0.313000													17	16					0	0	0.624587	0	0
RBM26	64062	broad.mit.edu	37	13	79942951	79942951	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:79942951C>A	ENST00000438737.2	-	6	1249	c.809G>T	c.(808-810)aGt>aTt	p.S270I	RBM26_ENST00000267229.7_Missense_Mutation_p.S270I|RBM26_ENST00000438724.1_Missense_Mutation_p.S270I			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	270					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTCAGACCAACTTTCGGTAGT	0.433000													37	67					9.14704e-12	9.75236e-12	0.840704	1	0
PGC	5225	broad.mit.edu	37	6	41708252	41708252	+	Silent	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:41708252G>C	ENST00000373025.3	-	6	806	c.744C>G	c.(742-744)ctC>ctG	p.L248L		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	248					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TCTGCCAGTAGAGTTCCTGGG	0.617000													64	87					0	0	0.870114	0	0
ATP13A3	79572	broad.mit.edu	37	3	194147857	194147857	+	Silent	SNP	A	A	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:194147857A>C	ENST00000439040.1	-	29	3863	c.3072T>G	c.(3070-3072)ggT>ggG	p.G1024G	ATP13A3_ENST00000256031.4_Silent_p.G1024G			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1024					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.G1024G(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CCCAAAAAAAACCCAAAGATT	0.388000													40	10					0	0	0.864702	0	0
MAP4	4134	broad.mit.edu	37	3	47913544	47913544	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:47913544T>A	ENST00000426837.2	-	13	5891	c.5804A>T	c.(5803-5805)aAg>aTg	p.K1935M	MAP4_ENST00000383737.4_Missense_Mutation_p.K518M|MAP4_ENST00000264724.11_Missense_Mutation_p.K525M|MAP4_ENST00000360240.6_Missense_Mutation_p.K790M|MAP4_ENST00000395734.3_Missense_Mutation_p.K790M|MAP4_ENST00000462206.1_5'UTR|MAP4_ENST00000420772.2_Missense_Mutation_p.K541M|MAP4_ENST00000441748.2_De_novo_Start_InFrame			P27816	MAP4_HUMAN	microtubule-associated protein 4	790					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		AGAAGCTGGCTTGGATGGTGA	0.562000													98	150					0	0	0.870114	0	0
GALNT2	2590	broad.mit.edu	37	1	230398367	230398367	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:230398367C>G	ENST00000366672.4	+	12	1257	c.1185C>G	c.(1183-1185)ttC>ttG	p.F395L	GALNT2_ENST00000541865.1_3'UTR|GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000543760.1_Missense_Mutation_p.F357L	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	395					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ACAAAAATTTCTATTATGCAG	0.448000													65	146					0	0	0.870114	0	0
GPR32	2854	broad.mit.edu	37	19	51274466	51274466	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:51274466G>C	ENST00000270590.4	+	1	746	c.609G>C	c.(607-609)caG>caC	p.Q203H		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	203						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGACTGCCCAGATTTGGATTG	0.552000													57	13					0	0	0.870114	0	0
ARPP21	10777	broad.mit.edu	37	3	35731587	35731587	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:35731587T>G	ENST00000187397.4	+	8	956	c.500T>G	c.(499-501)cTt>cGt	p.L167R	ARPP21_ENST00000337271.5_Missense_Mutation_p.L167R|ARPP21_ENST00000417925.1_Missense_Mutation_p.L167R|ARPP21_ENST00000444190.1_Missense_Mutation_p.L167R|ARPP21_ENST00000458225.1_Missense_Mutation_p.L167R	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	167	R3H.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGGATGATACTTTTGAAAATG	0.294000													9	21					0	0	0.307466	0	0
FLNB	2317	broad.mit.edu	37	3	58062849	58062849	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:58062849C>T	ENST00000357272.4	+	2	534	c.369C>T	c.(367-369)atC>atT	p.I123I	FLNB_ENST00000429972.2_Silent_p.I123I|FLNB_ENST00000348383.5_Silent_p.I123I|FLNB_ENST00000358537.3_Silent_p.I123I|FLNB_ENST00000490882.1_Silent_p.I123I|FLNB_ENST00000295956.4_Silent_p.I123I			O75369	FLNB_HUMAN	filamin B, beta	123	Actin-binding.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACTACTCCATCTCCATGCCCG	0.552000													37	60					0	0	0.834066	0	0
INPP5A	3632	broad.mit.edu	37	10	134591246	134591246	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr10:134591246G>A	ENST00000368594.3	+	13	1326	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	INPP5A_ENST00000368593.3_Missense_Mutation_p.R350H	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	350					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TGGTGTGACCGCATCCTCATG	0.652000													36	56					0	0	0.834066	0	0
POTEG	404785	broad.mit.edu	37	14	19553758	19553758	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr14:19553758G>C	ENST00000409832.3	+	1	394	c.342G>C	c.(340-342)aaG>aaC	p.K114N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	114										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGAGCGGCAAGAGCAAAGTGG	0.597000													72	792					0	0	0.870114	0	0
MYH4	4622	broad.mit.edu	37	17	10364372	10364372	+	Splice_Site	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:10364372C>G	ENST00000255381.2	-	12	1119		c.e12-1		CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCACAGCACTCTGTCAAAAGA	0.473000													22	103					0	0	0.740014	0	0
ARID1A	8289	broad.mit.edu	37	1	27106492	27106492	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:27106492G>A	ENST00000324856.7	+	20	6474	c.6103G>A	c.(6103-6105)Gag>Aag	p.E2035K	ARID1A_ENST00000540690.1_Missense_Mutation_p.E363K|ARID1A_ENST00000374152.2_Missense_Mutation_p.E1652K|ARID1A_ENST00000457599.2_Missense_Mutation_p.E1818K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2035					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGAAAAGGAGGAGGAACAGGA	0.557000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								49	69					0	0	0.870114	0	0
TAZ	6901	broad.mit.edu	37	X	153648555	153648555	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chrX:153648555G>A	ENST00000299328.5	+	9	940	c.651G>A	c.(649-651)atG>atA	p.M217I	TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000351413.4_Missense_Mutation_p.M203I|TAZ_ENST00000369790.4_Missense_Mutation_p.M173I|TAZ_ENST00000369776.4_Missense_Mutation_p.M187I|TAZ_ENST00000350743.4_Missense_Mutation_p.M187I|TAZ_ENST00000475699.1_Missense_Mutation_p.M190I	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	217					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCAGGAATGAATGACGTCC	0.637000													186	52					0	0	0.870114	0	0
TSC22D1	8848	broad.mit.edu	37	13	45147390	45147390	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:45147390C>T	ENST00000458659.2	-	1	3311	c.2821G>A	c.(2821-2823)Ggg>Agg	p.G941R	TSC22D1_ENST00000460842.1_5'UTR|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	941					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CTGCTACTCCCATCTGAAACT	0.547000													30	16					0	0	0.750413	0	0
EVI5L	115704	broad.mit.edu	37	19	7918186	7918186	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:7918186G>C	ENST00000270530.4	+	10	1309	c.1113G>C	c.(1111-1113)aaG>aaC	p.K371N	EVI5L_ENST00000538904.2_Missense_Mutation_p.K371N	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	371						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CAGCCATGAAGAGCAAGGAGA	0.627000											OREG0025211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	15					0	0	0.278610	0	0
SDHAP1	255812	broad.mit.edu	37	3	195717090	195717090	+	RNA	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:195717090G>A	ENST00000427841.1	-	0	60					NR_003264.2																						GCCAGGCGCCGAGCGCTTGGC	0.776000													6	19					0	0	0.335167	0	0
MAEL	84944	broad.mit.edu	37	1	166973535	166973535	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:166973535C>T	ENST00000367872.4	+	6	886	c.642C>T	c.(640-642)taC>taT	p.Y214Y	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Silent_p.Y183Y	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	214					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CACCTATCTACTGCAAGGTAA	0.343000													5	31					0	0	0.278610	0	0
TNS1	7145	broad.mit.edu	37	2	218699859	218699859	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:218699859C>T	ENST00000171887.4	-	19	3312	c.2860G>A	c.(2860-2862)Gag>Aag	p.E954K	TNS1_ENST00000430930.1_Missense_Mutation_p.E954K|TNS1_ENST00000419504.1_Missense_Mutation_p.E954K	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	954						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCATCTCCTCGAAGGCCTCC	0.572000													38	13					0	0	0.864702	0	0
ABCA8	10351	broad.mit.edu	37	17	66913593	66913593	+	Splice_Site	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:66913593C>T	ENST00000269080.2	-	15	2065		c.e15-1		ABCA8_ENST00000586539.1_Splice_Site|ABCA8_ENST00000430352.2_Splice_Site	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8							integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACTTTCCTGTCTGAAAAAGAA	0.373000													19	66					0	0	0.557998	0	0
SLC9C2	284525	broad.mit.edu	37	1	173517647	173517647	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:173517647C>G	ENST00000367714.3	-	12	1764	c.1342G>C	c.(1342-1344)Gcc>Ccc	p.A448P	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.A346P	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	448					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TGCTGAGTGGCATTTTGCAAG	0.363000													14	26					0	0	0.539581	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													12	29					0	0	0.457914	0	0
FCHO1	23149	broad.mit.edu	37	19	17892531	17892531	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:17892531G>A	ENST00000594202.1	+	23	2118	c.1839G>A	c.(1837-1839)cgG>cgA	p.R613R	FCHO1_ENST00000596951.1_Silent_p.R613R|FCHO1_ENST00000596536.1_Silent_p.R613R|FCHO1_ENST00000595033.1_Silent_p.R563R|FCHO1_ENST00000389133.4_Silent_p.R613R|FCHO1_ENST00000600676.1_Silent_p.R613R|FCHO1_ENST00000597512.1_Silent_p.R620R|FCHO1_ENST00000252771.7_Silent_p.R613R|FCHO1_ENST00000539407.1_Silent_p.R613R	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	613										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GAGTCTCCCGGGGTCCGAGCC	0.627000													214	45					0	0	0.870114	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181275	57181275	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:57181275C>T	ENST00000504228.1	+	6	1712	c.1607C>T	c.(1606-1608)cCc>cTc	p.P536L	KIAA1211_ENST00000541073.1_Missense_Mutation_p.P529L|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P536L			Q6ZU35	K1211_HUMAN	KIAA1211	536										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ATGCCCCGGCCCTACACGTTC	0.642000													15	6					0	0	0.575678	0	0
PLEC	5339	broad.mit.edu	37	8	145049425	145049425	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:145049425C>T	ENST00000436759.2	-	2	150	c.113G>A	c.(112-114)cGg>cAg	p.R38Q	PLEC_ENST00000527096.1_Missense_Mutation_p.R38Q	NM_000445.3	NP_000436.2	Q15149	PLEC_HUMAN	plectin	141	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGCCGGCTCCGCTGCGTTTT	0.667000											OREG0019050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	84	73					0	0	0.870114	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1978971	1978971	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:1978971C>G	ENST00000255641.8	+	6	1056	c.561C>G	c.(559-561)atC>atG	p.I187M		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	187	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCACATCATCGACTTCGGGC	0.617000													35	82					0	0	0.827153	0	0
COL5A1	1289	broad.mit.edu	37	9	137717708	137717708	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:137717708C>T	ENST00000371817.3	+	63	5439	c.5025C>T	c.(5023-5025)gcC>gcT	p.A1675A		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1675	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.A1675A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACTTCACAGCCGGGGGGTCGA	0.592000													29	61					0	0	0.779181	0	0
PRG4	10216	broad.mit.edu	37	1	186276169	186276169	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:186276169C>A	ENST00000445192.2	+	7	1363	c.1318C>A	c.(1318-1320)Ccc>Acc	p.P440T	PRG4_ENST00000367483.4_Missense_Mutation_p.P399T|PRG4_ENST00000367486.3_Missense_Mutation_p.P397T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.P347T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	440	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.P440T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCCCCAAGAAGCC	0.652000													5	99					0.000602214	0.000608509	0.184627	1	0
BRD2	6046	broad.mit.edu	37	6	32944130	32944130	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:32944130C>T	ENST00000395289.2	+	6	2315	c.714C>T	c.(712-714)ctC>ctT	p.L238L	BRD2_ENST00000395287.1_Silent_p.L238L|BRD2_ENST00000374831.4_Silent_p.L238L|BRD2_ENST00000443797.2_Silent_p.L118L|BRD2_ENST00000374825.4_Silent_p.L238L|BRD2_ENST00000449085.2_Silent_p.L191L			P25440	BRD2_HUMAN	bromodomain containing 2	238			L -> F (in dbSNP:rs176250).		spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCACTGTCCTCAACATTCCCC	0.567000													37	72					0	0	0.853193	0	0
GPX3	2878	broad.mit.edu	37	5	150407000	150407000	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:150407000C>T	ENST00000388825.4	+	4	459	c.367C>T	c.(367-369)Cga>Tga	p.R123*	GPX3_ENST00000517973.1_Silent_p.S71S	NM_002084.3	NP_002075.2	P22352	GPX3_HUMAN	glutathione peroxidase 3 (plasma)	123					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding	p.R123G(1)		kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	CAGGTATGTCCGACCAGGTGG	0.493000													23	59					0	0	0.681144	0	0
CDCA2	157313	broad.mit.edu	37	8	25364307	25364307	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:25364307G>A	ENST00000330560.3	+	15	2602	c.2125G>A	c.(2125-2127)Gac>Aac	p.D709N	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.D694N	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	709					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AGCTGGAACTGACAGTCCTGT	0.373000													6	12					0	0	0.278610	0	0
COL5A1	1289	broad.mit.edu	37	9	137734025	137734025	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:137734025C>T	ENST00000371817.3	+	66	5807	c.5393C>T	c.(5392-5394)aCg>aTg	p.T1798M		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1798	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TACCAGAAGACGGTTCTGGAG	0.522000													10	59					0	0	0.411799	0	0
ANO3	63982	broad.mit.edu	37	11	26655840	26655840	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:26655840T>C	ENST00000256737.3	+	19	2815	c.1963T>C	c.(1963-1965)Tat>Cat	p.Y655H	ANO3_ENST00000537978.1_Missense_Mutation_p.Y639H|ANO3_ENST00000531568.1_Missense_Mutation_p.Y509H|ANO3_ENST00000525139.1_Missense_Mutation_p.Y639H	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	655						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTCCATCTTCTATATCGCTTT	0.368000													10	11					0	0	0.361761	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42860419	42860419	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr21:42860419G>C	ENST00000398585.3	-	5	518	c.458C>G	c.(457-459)tCt>tGt	p.S153C	TMPRSS2_ENST00000332149.5_Missense_Mutation_p.S116C|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.S116C|TMPRSS2_ENST00000497881.1_Intron	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	116	SRCR.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CTCTATCCCAGAGTTGGAGCA	0.572000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								38	12					0	0	0.804634	0	0
DNAH10	196385	broad.mit.edu	37	12	124345628	124345628	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:124345628C>T	ENST00000409039.3	+	38	6490	c.6465C>T	c.(6463-6465)atC>atT	p.I2155I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2155	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCTACGGCATCCTGGACCCAA	0.488000													31	36					0	0	0.779181	0	0
ZNF335	63925	broad.mit.edu	37	20	44596540	44596540	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr20:44596540G>A	ENST00000322927.2	-	5	747	c.647C>T	c.(646-648)cCg>cTg	p.P216L	ZNF335_ENST00000426788.1_Missense_Mutation_p.P61L|ZNF335_ENST00000494955.1_5'UTR	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CAGCTGCACCGGGGAGCTGGG	0.647000													36	121					0	0	0.804634	0	0
CSDE1	7812	broad.mit.edu	37	1	115261332	115261332	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:115261332C>T	ENST00000438362.2	-	19	2767	c.2389G>A	c.(2389-2391)Gat>Aat	p.D797N	CSDE1_ENST00000483407.1_5'UTR|CSDE1_ENST00000261443.5_Missense_Mutation_p.D720N|CSDE1_ENST00000530886.1_Missense_Mutation_p.D621N|CSDE1_ENST00000369530.1_Missense_Mutation_p.D766N|CSDE1_ENST00000339438.6_Missense_Mutation_p.D720N|CSDE1_ENST00000534699.1_Missense_Mutation_p.D751N|CSDE1_ENST00000358528.4_Missense_Mutation_p.D751N	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	751					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCAACCGATCAGGTCGAGGA	0.502000													12	31					0	0	0.435327	0	0
MIR17HG	407975	broad.mit.edu	37	13	92003372	92003372	+	RNA	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:92003372G>C	ENST00000362279.1	+	0	54					NR_029492.1																						ACTGCATTATGAGCACTTAAA	0.433000													26	120					0	0	0.706142	0	0
EGFL7	51162	broad.mit.edu	37	9	139565433	139565433	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:139565433G>A	ENST00000371699.1	+	8	1514	c.603G>A	c.(601-603)caG>caA	p.Q201Q	EGFL7_ENST00000371698.3_Silent_p.Q201Q|EGFL7_ENST00000406555.3_Silent_p.Q201Q|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000308874.7_Silent_p.Q201Q			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	201					angiogenesis|vasculogenesis		calcium ion binding			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		AAGAAGTGCAGAGGCTGCAGT	0.697000													4	5					0	0	0.184627	0	0
STXBP1	6812	broad.mit.edu	37	9	130422312	130422312	+	Missense_Mutation	SNP	G	G	A	rs34830702	byFrequency	TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:130422312G>A	ENST00000373302.3	+	5	389	c.250G>A	c.(250-252)Gtc>Atc	p.V84I	STXBP1_ENST00000373299.1_Missense_Mutation_p.V84I	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	84			V -> D (in EIEE4; may alter protein structure).		axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCCACAGTCCGTCCACTCTCT	0.507000													20	51					0	0	0.654019	0	0
ABCC9	10060	broad.mit.edu	37	12	22059097	22059097	+	Silent	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:22059097A>G	ENST00000261200.4	-	10	1580	c.1581T>C	c.(1579-1581)tcT>tcC	p.S527S	ABCC9_ENST00000345162.2_Silent_p.S527S|ABCC9_ENST00000261201.4_Silent_p.S527S	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	527	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTTGAGACTAGATAGTTCTT	0.368000													18	45					0	0	0.693898	0	0
RBM47	54502	broad.mit.edu	37	4	40440104	40440104	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:40440104G>A	ENST00000319592.4	-	4	1516	c.807C>T	c.(805-807)ttC>ttT	p.F269F	RBM47_ENST00000381793.2_Silent_p.F269F|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.F231F|RBM47_ENST00000381795.6_Silent_p.F269F|RBM47_ENST00000295971.7_Silent_p.F269F			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	269	RRM 3.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGCCGGGGTTGAACTGGCCGA	0.592000													41	52					0	0	0.847076	0	0
MICAL2	9645	broad.mit.edu	37	11	12247845	12247845	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:12247845G>A	ENST00000256194.4	+	14	2104	c.1816G>A	c.(1816-1818)Gac>Aac	p.D606N	MICAL2_ENST00000342902.5_Missense_Mutation_p.D606N|MICAL2_ENST00000379612.3_Missense_Mutation_p.D606N|MICAL2_ENST00000537344.1_Missense_Mutation_p.D606N|MICAL2_ENST00000527546.1_Missense_Mutation_p.D606N	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	606	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CCAGGAGCCTGACAAGCTCAG	0.572000													30	57					0	0	0.750413	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181322	57181322	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:57181322A>G	ENST00000504228.1	+	6	1759	c.1654A>G	c.(1654-1656)Aaa>Gaa	p.K552E	KIAA1211_ENST00000541073.1_Missense_Mutation_p.K545E|KIAA1211_ENST00000264229.6_Missense_Mutation_p.K552E			Q6ZU35	K1211_HUMAN	KIAA1211	552										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TCTCTTTCCCAAAGTCAACCT	0.652000													13	1					0	0	0.457914	0	0
COL5A1	1289	broad.mit.edu	37	9	137709646	137709646	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:137709646C>A	ENST00000371817.3	+	54	4613	c.4199C>A	c.(4198-4200)cCc>cAc	p.P1400H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1400	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCGCAGGCCCCGAAGGCAGA	0.662000													9	5					2.80697e-09	2.96008e-09	0.387290	1	0
C15orf56	644809	broad.mit.edu	37	15	40544683	40544683	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr15:40544683A>G	ENST00000319503.3	-	2	310	c.289T>C	c.(289-291)Tgt>Cgt	p.C97R	PAK6_ENST00000560346.1_Intron|C15orf56_ENST00000559727.1_3'UTR|PAK6_ENST00000260404.4_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000455577.2_Intron|RP11-133K1.2_ENST00000558658.1_Intron	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN	chromosome 15 open reading frame 56	97										lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		CCCCAGCGACACTTGGCAACT	0.667000													12	4					0	0	0.435327	0	0
AK2	204	broad.mit.edu	37	1	33490112	33490112	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:33490112C>T	ENST00000373449.2	-	2	191	c.150G>A	c.(148-150)ctG>ctA	p.L50L	AK2_ENST00000548033.1_Intron|AK2_ENST00000480134.1_Silent_p.L50L|AK2_ENST00000487289.1_Silent_p.L50L|AK2_ENST00000467905.1_Silent_p.L50L|AK2_ENST00000354858.6_Silent_p.L50L|RP1-117O3.2_ENST00000427524.1_RNA	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN	adenylate kinase 2	50					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCATGGCCCTCAGCATGTCCC	0.468000													16	29					0	0	0.500413	0	0
PTPRD	5789	broad.mit.edu	37	9	8465602	8465602	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:8465602G>A	ENST00000381196.4	-	29	4121	c.3578C>T	c.(3577-3579)gCc>gTc	p.A1193V	PTPRD_ENST00000355233.5_Missense_Mutation_p.A782V|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1171V|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1193V|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1180V|PTPRD_ENST00000397611.3_Missense_Mutation_p.A779V|PTPRD_ENST00000537002.1_Missense_Mutation_p.A779V|PTPRD_ENST00000486161.1_Missense_Mutation_p.A782V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1193V|PTPRD_ENST00000397606.3_Missense_Mutation_p.A772V|PTPRD_ENST00000397617.3_Missense_Mutation_p.A772V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1193					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAAGTGAGCGGCAATATATGG	0.428000										TSP Lung(15;0.13)			28	79					0	0	0.740014	0	0
OR8A1	390275	broad.mit.edu	37	11	124440079	124440079	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:124440079G>A	ENST00000284287.3	+	1	187	c.115G>A	c.(115-117)Gac>Aac	p.D39N		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GAAGAGAGCAGACCTCCAGCT	0.527000													15	28					0	0	0.539581	0	0
ASAP3	55616	broad.mit.edu	37	1	23768756	23768756	+	Silent	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:23768756G>C	ENST00000336689.3	-	7	638	c.594C>G	c.(592-594)ctC>ctG	p.L198L	ASAP3_ENST00000437606.2_Silent_p.L189L	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	198					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	p.L198L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CCCCGGCTTTGAGCAGATACT	0.567000													5	14					0	0	0.217242	0	0
ALCAM	214	broad.mit.edu	37	3	105269058	105269058	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:105269058G>A	ENST00000306107.5	+	12	1962	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	ALCAM_ENST00000389927.4_Missense_Mutation_p.E210K|ALCAM_ENST00000472644.2_Missense_Mutation_p.E488K|ALCAM_ENST00000486979.2_Missense_Mutation_p.E437K	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	488	Ig-like C2-type 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTGCACAGCAGAAAACCAACT	0.333000													25	19					0	0	0.693898	0	0
FABP1	2168	broad.mit.edu	37	2	88425824	88425824	+	Silent	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:88425824C>A	ENST00000393750.3	-	2	142	c.111G>T	c.(109-111)ggG>ggT	p.G37G	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Silent_p.G37G			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	37					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TTTCCGACACCCCCTTGATAT	0.532000													104	197					2.09629e-50	2.36546e-50	0.870114	1	0
DCAF7	10238	broad.mit.edu	37	17	61628110	61628110	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:61628110G>C	ENST00000310827.4	+	1	289	c.72G>C	c.(70-72)tgG>tgC	p.W24C	DCAF7_ENST00000415273.2_Missense_Mutation_p.W24C|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000431926.1_Missense_Mutation_p.W24C	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	24					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						CGATGAACTGGAGTGTGCGGC	0.642000													28	97					0	0	0.693898	0	0
EOGT	285203	broad.mit.edu	37	3	69031975	69031975	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:69031975C>T	ENST00000383701.3	-	15	1943	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	EOGT_ENST00000540764.1_Missense_Mutation_p.D300N|EOGT_ENST00000295571.5_Missense_Mutation_p.D317N|EOGT_ENST00000540955.1_Missense_Mutation_p.D125N	NM_001278689.1	NP_001265618.1			EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase																		TACTTGTAATCAACAATCTGG	0.388000													6	17					0	0	0.278610	0	0
PTPRO	5800	broad.mit.edu	37	12	15677896	15677896	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:15677896G>C	ENST00000281171.4	+	11	2370	c.2040G>C	c.(2038-2040)aaG>aaC	p.K680N	PTPRO_ENST00000348962.2_Missense_Mutation_p.K680N	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	680	Fibronectin type-III 7.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAATTAAAAAGAGTGTATGTT	0.343000													10	31					0	0	0.387290	0	0
ARID1A	8289	broad.mit.edu	37	1	27105793	27105793	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:27105793G>T	ENST00000324856.7	+	20	5775	c.5404G>T	c.(5404-5406)Gag>Tag	p.E1802*	ARID1A_ENST00000540690.1_Nonsense_Mutation_p.E130*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1419*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1585*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1802					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGAGAATAGTGAGGAGAAGCT	0.438000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								15	24					2.23348e-06	2.29685e-06	0.500413	1	0
RBM47	54502	broad.mit.edu	37	4	40438583	40438583	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:40438583G>A	ENST00000381793.2	-	4	1601	c.1205C>T	c.(1204-1206)tCt>tTt	p.S402F	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.S364F|RBM47_ENST00000381795.6_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.S402F|RBM47_ENST00000319592.4_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	402						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ACGACCAGCAGAATATCCCCC	0.507000													79	171					0	0	0.870114	0	0
RPL12	6136	broad.mit.edu	37	9	130210620	130210620	+	Silent	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:130210620G>C	ENST00000361436.5	-	5	462	c.375C>G	c.(373-375)ctC>ctG	p.L125L	RPL12_ENST00000497322.1_5'UTR|RPL12_ENST00000536368.1_Silent_p.L92L	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12	125					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCTTACCAGAGAGTTCTCTGG	0.443000													80	143					0	0	0.870114	0	0
PNLDC1	154197	broad.mit.edu	37	6	160225085	160225085	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:160225085C>T	ENST00000610273.1	+	5	475	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	PNLDC1_ENST00000609334.1_3'UTR|PNLDC1_ENST00000392167.3_Nonsense_Mutation_p.Q113*	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1							integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTCCAGTGTTCAGTTTTTGAA	0.413000													53	107					0	0	0.870114	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319580	21319580	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:21319580C>G	ENST00000583088.1	+	3	1821	c.926C>G	c.(925-927)aCc>aGc	p.T309S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.T309S	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		ACAGCCATGACCACCCAGGCC	0.607000										Prostate(3;0.18)			22	268					0	0	0.693898	0	0
CEP350	9857	broad.mit.edu	37	1	179989148	179989148	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:179989148C>T	ENST00000367607.3	+	12	2657	c.2239C>T	c.(2239-2241)Caa>Taa	p.Q747*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	747						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCACCATTCTCAACCACAGCC	0.383000													45	92					0	0	0.870114	0	0
IL10RA	3587	broad.mit.edu	37	11	117866303	117866303	+	Splice_Site	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:117866303G>T	ENST00000227752.3	+	6	808		c.e6-1		IL10RA_ENST00000533700.1_Splice_Site|IL10RA_ENST00000545409.1_Splice_Site|IL10RA_ENST00000541785.1_Splice_Site	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha							integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TGGGCCTGCAGATTTCACCGT	0.577000													94	24					9.50027e-55	1.08042e-54	0.870114	1	0
PAPOLA	10914	broad.mit.edu	37	14	97022284	97022284	+	Splice_Site	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr14:97022284G>A	ENST00000216277.8	+	18	1985	c.1765G>A	c.(1765-1767)Ggt>Agt	p.G589S	PAPOLA_ENST00000392990.2_Splice_Site_p.G589S	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	589	Ser/Thr-rich.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AAGCTCAGGGGGTAAGGAGAT	0.403000													32	29					0	0	0.779181	0	0
KDELC1	79070	broad.mit.edu	37	13	103445990	103445990	+	Silent	SNP	C	C	T	rs144061173		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:103445990C>T	ENST00000376004.4	-	3	891	c.555G>A	c.(553-555)caG>caA	p.Q185Q	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	185						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGCTCTGCCTCTGTCCAAATC	0.383000													34	84					0	0	0.812448	0	0
GDF6	392255	broad.mit.edu	37	8	97157377	97157377	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:97157377C>T	ENST00000287020.5	-	2	881	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	261					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GCCCAGACTCCGCAGGTCCGG	0.736000													3	16					0	0	0.150653	0	0
GLI1	2735	broad.mit.edu	37	12	57861869	57861869	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:57861869C>T	ENST00000228682.2	+	10	1261	c.1170C>T	c.(1168-1170)gaC>gaT	p.D390D	GLI1_ENST00000546141.1_Silent_p.D349D|GLI1_ENST00000543426.1_Silent_p.D262D	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	390					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ATGGTCCTGACGCCCATGTGA	0.572000													23	67					0	0	0.693898	0	0
PIDD	55367	broad.mit.edu	37	11	801284	801284	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:801284G>T	ENST00000347755.5	-	9	1705	c.1564C>A	c.(1564-1566)Cag>Aag	p.Q522K	PIDD_ENST00000411829.2_Missense_Mutation_p.Q522K	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	522	ZU5 2.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GGACCGCTCTGTGACAGGCAC	0.677000													27	51					7.63505e-26	8.48338e-26	0.760397	1	0
PGD	5226	broad.mit.edu	37	1	10471526	10471526	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:10471526G>C	ENST00000538557.1	+	7	776	c.532G>C	c.(532-534)Gag>Cag	p.E178Q	PGD_ENST00000270776.8_Missense_Mutation_p.E191Q|PGD_ENST00000541529.1_Missense_Mutation_p.E169Q			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	191					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CAACGGGATAGAGTATGGGGA	0.582000													13	45					0	0	0.479597	0	0
MYH1	4619	broad.mit.edu	37	17	10409366	10409366	+	Silent	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:10409366A>G	ENST00000226207.5	-	18	2113	c.2019T>C	c.(2017-2019)ttT>ttC	p.F673F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	673	Actin-binding (By similarity).|Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGCACCGCACAAAGTGGGGGT	0.423000													35	166					0	0	0.870114	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102461424	102461424	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr14:102461424G>A	ENST00000360184.4	+	14	3599	c.3435G>A	c.(3433-3435)caG>caA	p.Q1145Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1145	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCCATTCCCAGATCTCAAAGG	0.463000													21	35					0	0	0.608945	0	0
TMEM171	134285	broad.mit.edu	37	5	72419597	72419597	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:72419597G>A	ENST00000454765.2	+	2	870	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	TMEM171_ENST00000287773.5_Missense_Mutation_p.V133I			Q8WVE6	TM171_HUMAN	transmembrane protein 171	133						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GGGCATTTGGGTCCCTGGATG	0.562000													4	148					0	0	0.150653	0	0
POTEM	641455	broad.mit.edu	37	14	20019865	20019865	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr14:20019865G>T	ENST00000551509.1	-	1	407	c.356C>A	c.(355-357)cCc>cAc	p.P119H		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	119										endometrium(4)|kidney(1)|lung(4)	9						GTCTCCCCAGGGGCCCACTTT	0.602000													66	100					8.80822e-21	9.60295e-21	0.870114	1	0
TLR9	54106	broad.mit.edu	37	3	52256622	52256622	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:52256622G>A	ENST00000494383.1	-	5	2169	c.2170C>T	c.(2170-2172)Cgt>Tgt	p.R724C	TLR9_ENST00000597542.1_Silent_p.F594F|TLR9_ENST00000360658.2_Silent_p.F570F			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GGTGAGCCACGAAGCTGAAGT	0.642000													24	23					0	0	0.654019	0	0
GPR108	56927	broad.mit.edu	37	19	6731901	6731901	+	Splice_Site	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:6731901C>T	ENST00000264080.7	-	14	1327		c.e14+1		GPR108_ENST00000430424.4_Splice_Site|GPR108_ENST00000598626.1_Splice_Site	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108							integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CAGGGCCTCACCCTTCCCGTC	0.662000													13	1					0	0	0.457914	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	G	rs11540652		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:7577538C>G	ENST00000420246.2	-	7	875	c.743G>C	c.(742-744)cGg>cCg	p.R248P	TP53_ENST00000445888.2_Missense_Mutation_p.R248P|TP53_ENST00000269305.4_Missense_Mutation_p.R248P|TP53_ENST00000455263.2_Missense_Mutation_p.R248P|TP53_ENST00000359597.4_Missense_Mutation_p.R248P|TP53_ENST00000413465.2_Missense_Mutation_p.R248P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			124	21					0	0	0.870114	0	0
PTGFRN	5738	broad.mit.edu	37	1	117529499	117529499	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:117529499C>T	ENST00000393203.2	+	9	2697	c.2550C>T	c.(2548-2550)atC>atT	p.I850I		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	850						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CCTGTCTCATCGGGTACTGCA	0.607000													53	77					0	0	0.870114	0	0
GRM1	2911	broad.mit.edu	37	6	146720833	146720833	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:146720833C>T	ENST00000392299.2	+	8	3128	c.2658C>T	c.(2656-2658)gcC>gcT	p.A886A	GRM1_ENST00000361719.2_Silent_p.A886A|GRM1_ENST00000492807.2_Silent_p.A886A|GRM1_ENST00000507907.1_Silent_p.A886A|GRM1_ENST00000282753.1_Silent_p.A886A|GRM1_ENST00000355289.4_Silent_p.A886A			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	886					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAGGGAATGCCAAGTGAGTTA	0.488000													6	7					0	0	0.217242	0	0
FAM111B	374393	broad.mit.edu	37	11	58893255	58893255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:58893255G>A	ENST00000343597.3	+	4	1876	c.1685G>A	c.(1684-1686)tGg>tAg	p.W562*	FAM111B_ENST00000529618.1_Nonsense_Mutation_p.W532*|FAM111B_ENST00000411426.1_Nonsense_Mutation_p.W532*	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	562							catalytic activity	p.W562*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CCAGGACTATGGCGACAGATT	0.373000													14	37					0	0	0.457914	0	0
PANK2	80025	broad.mit.edu	37	20	3870313	3870313	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr20:3870313C>G	ENST00000316562.4	+	1	572	c.566C>G	c.(565-567)tCt>tGt	p.S189C	PANK2_ENST00000610179.1_Missense_Mutation_p.S66C|PANK2_ENST00000497424.1_Intron	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	189					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGACTGGGCTCTTACAGCGGC	0.751000													6	38					0	0	0.278610	0	0
DPP3	10072	broad.mit.edu	37	11	66262701	66262701	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:66262701G>A	ENST00000532677.1	+	13	1872	c.1471G>A	c.(1471-1473)Gac>Aac	p.D491N	DPP3_ENST00000360510.2_Missense_Mutation_p.D472N|DPP3_ENST00000541961.1_Missense_Mutation_p.D472N|DPP3_ENST00000531863.1_Missense_Mutation_p.D492N|DPP3_ENST00000453114.1_Missense_Mutation_p.D472N|DPP3_ENST00000530165.1_Missense_Mutation_p.D442N|DPP3_ENST00000533799.1_3'UTR	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	472					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ATTCAACTTTGACCAGGAAAC	0.627000													52	80					0	0	0.870114	0	0
FREM1	158326	broad.mit.edu	37	9	14859231	14859231	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:14859231C>T	ENST00000380881.4	-	5	1396	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	FREM1_ENST00000422223.2_Missense_Mutation_p.R194Q|FREM1_ENST00000380880.3_Missense_Mutation_p.R194Q			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	194					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCTTCTGGTCGAGGCTCCCC	0.502000													31	41					0	0	0.769981	0	0
GLP1R	2740	broad.mit.edu	37	6	39047367	39047367	+	Silent	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:39047367C>A	ENST00000373256.4	+	11	1114	c.1071C>A	c.(1069-1071)atC>atA	p.I357I		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	357					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TGACACTCATCCCCCTGCTGG	0.567000													24	55					9.78306e-22	1.0706e-21	0.740014	1	0
L3MBTL4	91133	broad.mit.edu	37	18	6301906	6301906	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr18:6301906A>C	ENST00000400104.3	-	4	323	c.123T>G	c.(121-123)agT>agG	p.S41R	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.S41R|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.S41R|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.S41R			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	41					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				AATTACCGTGACTCAAAGGGG	0.338000													25	118					0	0	0.760397	0	0
ABCG8	64241	broad.mit.edu	37	2	44101118	44101118	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:44101118C>T	ENST00000272286.2	+	9	1494	c.1404C>T	c.(1402-1404)atC>atT	p.I468I		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	468	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGATGTCATCTCCAAATGTG	0.542000													62	97					0	0	0.870114	0	0
CROCCP2	84809	broad.mit.edu	37	1	16952952	16952952	+	RNA	SNP	G	G	A	rs1762946	by1000genomes	TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:16952952G>A	ENST00000412962.1	-	0	664																											TCTGCCCTCAGCTTGGTCACG	0.622000													10	64					0	0	0.335167	0	0
A2M	2	broad.mit.edu	37	12	9248286	9248286	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:9248286A>G	ENST00000318602.7	-	16	2169	c.1862T>C	c.(1861-1863)cTg>cCg	p.L621P		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	621					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TTCTGGTAGCAGGTTGTAAAC	0.368000													12	58					0	0	0.557998	0	0
ALAS2	212	broad.mit.edu	37	X	55054211	55054211	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chrX:55054211C>T	ENST00000396198.3	-	2	115	c.30G>A	c.(28-30)tgG>tgA	p.W10*	ALAS2_ENST00000330807.5_Intron|ALAS2_ENST00000335854.4_Intron	NM_001037968.3	NP_001033057.1	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	0					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TTTTCTTGTTCCATCCCAGAG	0.537000													41	8					0	0	0.870114	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107169953	107169953	+	RNA	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr14:107169953G>T	ENST00000390633.2	-	0	389																											ATACACGGCCGTGTCCTCAGA	0.557000													133	405					4.49191e-84	5.12856e-84	0.870114	1	0
CACHD1	57685	broad.mit.edu	37	1	65095063	65095063	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:65095063C>A	ENST00000371073.2	+	5	543	c.543C>A	c.(541-543)aaC>aaA	p.N181K	CACHD1_ENST00000290039.5_Missense_Mutation_p.N130K|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	181					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGAAATCCAACCCTGGAATTA	0.453000													26	52					6.38683e-12	6.83462e-12	0.729181	1	0
ZAN	7455	broad.mit.edu	37	7	100364700	100364700	+	RNA	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:100364700C>A	ENST00000542585.1	+	0	4828				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCACCACTTCATGGGCACCT	0.607000													46	86					4.25531e-23	4.69217e-23	0.870114	1	0
GUCY2D	3000	broad.mit.edu	37	17	7906989	7906989	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:7906989G>A	ENST00000254854.4	+	2	774	c.624G>A	c.(622-624)cgG>cgA	p.R208R		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	208					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				TCAGGGCCCGGGGCCTGCCTG	0.711000													10	52					0	0	0.387290	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815314	23815314	+	Splice_Site	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:23815314T>G	ENST00000264867.2	-	8	1911	c.1792A>C	c.(1792-1794)Aga>Cga	p.R598R	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	598	Arg/Ser-rich.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AAGGTTTACCTTGAAGAGGAT	0.403000													11	22					0	0	0.500413	0	0
SKAP2	8935	broad.mit.edu	37	7	26709771	26709771	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:26709771C>T	ENST00000345317.2	-	12	1341	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E	SKAP2_ENST00000539623.1_Missense_Mutation_p.G171E	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	343	SH3.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GCCAATGGCTCCCTTCATTTC	0.363000													19	28					0	0	0.654019	0	0
ZNF426	79088	broad.mit.edu	37	19	9639507	9639507	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:9639507G>A	ENST00000593003.1	-	6	1577	c.1100C>T	c.(1099-1101)tCa>tTa	p.S367L	ZNF426_ENST00000535489.1_Missense_Mutation_p.S405L|ZNF426_ENST00000253115.2_Missense_Mutation_p.S405L			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ACTAAGATTTGAGGAAACTGC	0.408000													8	27					0	0	0.307466	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997598	46997598	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:46997598G>A	ENST00000599531.1	-	1	2157	c.1125C>T	c.(1123-1125)gtC>gtT	p.V375V	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	375										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TGACGGACAAGACCTGTCGGA	0.642000													8	41					0	0	0.307466	0	0
FMO3	2328	broad.mit.edu	37	1	171085395	171085395	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:171085395G>A	ENST00000367755.4	+	8	1342	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	FMO3_ENST00000392085.2_Missense_Mutation_p.E411K|FMO3_ENST00000538429.1_Missense_Mutation_p.E348K|FMO3_ENST00000542847.1_Missense_Mutation_p.E391K	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	411					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.E411Q(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGATATTAATGAGAAAATGGA	0.358000													11	23					0	0	0.457914	0	0
DSEL	92126	broad.mit.edu	37	18	65180301	65180301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr18:65180301C>T	ENST00000310045.7	-	2	3048	c.1575G>A	c.(1573-1575)tgG>tgA	p.W525*	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	515						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTTGACCTTCCCAGGGCTTAT	0.488000													33	75					0	0	0.796494	0	0
TAMM41	132001	broad.mit.edu	37	3	11851124	11851124	+	Silent	SNP	C	C	T	rs140106641	byFrequency	TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:11851124C>T	ENST00000444133.2	-	6	883	c.741G>A	c.(739-741)caG>caA	p.Q247Q	TAMM41_ENST00000273037.5_Silent_p.Q247Q|TAMM41_ENST00000455809.1_Silent_p.Q247Q			Q96BW9	MMP37_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	247					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane											ATGTCATCAGCTGAGTGAACT	0.398000													18	24					0	0	0.693898	0	0
SMYD4	114826	broad.mit.edu	37	17	1686727	1686727	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:1686727C>G	ENST00000305513.7	-	9	2231	c.2064G>C	c.(2062-2064)gaG>gaC	p.E688D		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	688							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						ACAGGAAGCTCTCGGCGTCAC	0.612000													16	50					0	0	0.520397	0	0
WFDC2	10406	broad.mit.edu	37	20	44108543	44108543	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr20:44108543C>T	ENST00000342873.3	+	1	465	c.32C>T	c.(31-33)tCg>tTg	p.S11L	WFDC2_ENST00000339946.3_Intron|WFDC2_ENST00000372676.3_Intron|WFDC2_ENST00000488143.1_Intron			Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	0					proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				CTCCCTGTATCGCCTCTGCCC	0.572000													113	425					0	0	0.870114	0	0
DUS1L	64118	broad.mit.edu	37	17	80017896	80017896	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:80017896C>T	ENST00000354321.7	-	10	1581	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	DUS1L_ENST00000306796.5_Missense_Mutation_p.E366K			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	366					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GACAGGACCTCCGTGCCACCC	0.652000													23	102					0	0	0.667858	0	0
SYNE1	23345	broad.mit.edu	37	6	152674462	152674462	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:152674462T>A	ENST00000367255.5	-	69	11790	c.11189A>T	c.(11188-11190)aAt>aTt	p.N3730I	SYNE1_ENST00000448038.1_Missense_Mutation_p.N3715I|SYNE1_ENST00000341594.5_Missense_Mutation_p.N3701I|SYNE1_ENST00000423061.1_Missense_Mutation_p.N3715I|SYNE1_ENST00000265368.4_Missense_Mutation_p.N3730I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3730					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTAGCCACATTCTTGAAGTT	0.398000										HNSCC(10;0.0054)			5	103					0	0	0.184627	0	0
GDF6	392255	broad.mit.edu	37	8	97172829	97172829	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:97172829G>C	ENST00000287020.5	-	1	191	c.92C>G	c.(91-93)tCc>tGc	p.S31C		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	31	Poly-Ser.				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GGACGACGAGGAGGATGAGAT	0.647000													49	155					0	0	0.870114	0	0
DUSP7	1849	broad.mit.edu	37	3	52090150	52090150	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:52090150C>A	ENST00000495880.1	-	1	416	c.233G>T	c.(232-234)cGg>cTg	p.R78L	DUSP7_ENST00000296483.6_Missense_Mutation_p.R27L			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	78	Rhodanese.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTCGTGCGGCCGGCAGTCGAG	0.716000													4	15					2.0095e-06	2.07386e-06	0.248553	1	0
CEP350	9857	broad.mit.edu	37	1	180063622	180063622	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:180063622G>A	ENST00000367607.3	+	34	8800	c.8382G>A	c.(8380-8382)aaG>aaA	p.K2794K	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2794						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATGACCAAAAGAAAGTAACAC	0.388000													3	8					0	0	0.184627	0	0
KMT2A	4297	broad.mit.edu	37	11	118355688	118355688	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:118355688G>C	ENST00000534358.1	+	10	4353	c.4330G>C	c.(4330-4332)Gag>Cag	p.E1444Q	KMT2A_ENST00000389506.5_Missense_Mutation_p.E1444Q|KMT2A_ENST00000354520.4_Intron	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TGGGCATGTAGAGGTAAGGCA	0.423000													12	21					0	0	0.387290	0	0
CDHR5	53841	broad.mit.edu	37	11	621088	621088	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:621088G>A	ENST00000358353.3	-	8	1103	c.781C>T	c.(781-783)Cac>Tac	p.H261Y	CDHR5_ENST00000349570.7_Missense_Mutation_p.H261Y|CDHR5_ENST00000397542.2_Missense_Mutation_p.H261Y			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	261	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ACCAGTATGTGCCCCGTGGGG	0.672000													28	49					0	0	0.769981	0	0
LINC00922	283867	broad.mit.edu	37	16	65345348	65345348	+	RNA	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr16:65345348C>T	ENST00000569736.1	-	0	787				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						GCCTGGAAGCCCATGCCTTCA	0.438000													38	50					0	0	0.827153	0	0
HNF1B	6928	broad.mit.edu	37	17	36070615	36070615	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:36070615G>A	ENST00000225893.4	-	5	1463	c.1102C>T	c.(1102-1104)Cac>Tac	p.H368Y	HNF1B_ENST00000560016.1_Missense_Mutation_p.H368Y|HNF1B_ENST00000561193.1_Missense_Mutation_p.H342Y|HNF1B_ENST00000427275.2_Missense_Mutation_p.H342Y	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	368					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TTGCCATGGTGACTGATTGTT	0.537000													21	46					0	0	0.639603	0	0
GPX3	2878	broad.mit.edu	37	5	150407039	150407039	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:150407039G>C	ENST00000388825.4	+	4	498	c.406G>C	c.(406-408)Gag>Cag	p.E136Q	GPX3_ENST00000517973.1_Missense_Mutation_p.L84F	NM_002084.3	NP_002075.2	P22352	GPX3_HUMAN	glutathione peroxidase 3 (plasma)	136					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	CCAGCTCTTTGAGAAAGGGGA	0.527000													14	64					0	0	0.457914	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804750	21804750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr10:21804750C>A	ENST00000449193.2	-	4	4254	c.2002G>T	c.(2002-2004)Gag>Tag	p.E668*	SKIDA1_ENST00000444772.3_Nonsense_Mutation_p.E589*	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		CAGGGATTCTCGGCTTTAGTT	0.433000													14	18					9.16793e-09	9.56367e-09	0.520397	1	0
RSF1	51773	broad.mit.edu	37	11	77411897	77411897	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:77411897C>T	ENST00000308488.6	-	6	2679	c.2377G>A	c.(2377-2379)Gat>Aat	p.D793N	RSF1_ENST00000360355.2_Missense_Mutation_p.D762N|RSF1_ENST00000480887.1_Missense_Mutation_p.D541N			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	793					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GCTTTCTGATCTCTGATCTCA	0.383000													18	27					0	0	0.575678	0	0
OR2G3	81469	broad.mit.edu	37	1	247768909	247768909	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:247768909T>A	ENST00000320002.2	+	1	54	c.22T>A	c.(22-24)Tcc>Acc	p.S8T	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CAATGAGAGTTCCCTAATGGA	0.468000													23	37					0	0	0.750413	0	0
C20orf26	26074	broad.mit.edu	37	20	20051628	20051628	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr20:20051628G>T	ENST00000245957.5	+	3	350	c.274G>T	c.(274-276)Gac>Tac	p.D92Y	C20orf26_ENST00000451767.2_Missense_Mutation_p.D92Y|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.D92Y	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	92										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCGGGAGCTCGACAGTGACAT	0.498000													28	136					6.05902e-23	6.65574e-23	0.788014	1	0
CELF4	56853	broad.mit.edu	37	18	34901838	34901838	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr18:34901838G>A	ENST00000420428.2	-	3	771	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	CELF4_ENST00000601019.1_Missense_Mutation_p.R126W|CELF4_ENST00000591287.1_Missense_Mutation_p.R126W|CELF4_ENST00000412753.1_Missense_Mutation_p.R126W|CELF4_ENST00000588597.1_Missense_Mutation_p.R126W|CELF4_ENST00000603232.1_Missense_Mutation_p.R126W|CELF4_ENST00000591282.1_Missense_Mutation_p.R126W|CELF4_ENST00000361795.5_Missense_Mutation_p.R126W|CELF4_ENST00000334919.5_Missense_Mutation_p.R126W	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	126	RRM 1.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TGGATCGGCCGGTTCATCTGC	0.627000											OREG0024927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	67					0	0	0.870114	0	0
BLOC1S2	282991	broad.mit.edu	37	10	102045870	102045870	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr10:102045870C>T	ENST00000441611.1	-	1	244	c.27G>A	c.(25-27)ctG>ctA	p.L9L	BLOC1S2_ENST00000370372.2_Silent_p.L52L|BLOC1S2_ENST00000361832.2_5'UTR	NM_001001342.2|NM_001282437.1|NM_001282438.1|NM_001282439.1	NP_001001342.1|NP_001269366.1|NP_001269367.1|NP_001269368.1	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	52					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding			large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		GTTCCCCAGTCAGGTAAGTGG	0.597000													70	167					0	0	0.870114	0	0
PITPNM1	9600	broad.mit.edu	37	11	67262389	67262389	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:67262389C>A	ENST00000356404.3	-	18	2895	c.2670G>T	c.(2668-2670)gaG>gaT	p.E890D	PITPNM1_ENST00000436757.2_Missense_Mutation_p.E889D|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000534749.1_Missense_Mutation_p.E890D	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	890					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TGGACGGCTCCTCGCATTCCG	0.692000													84	130					1.21526e-53	1.37666e-53	0.870114	1	0
MACF1	23499	broad.mit.edu	37	1	39910468	39910468	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:39910468G>T	ENST00000564288.1	+	80	20343	c.19566G>T	c.(19564-19566)caG>caT	p.Q6522H	MACF1_ENST00000372915.3_Missense_Mutation_p.Q6421H|MACF1_ENST00000567887.1_Missense_Mutation_p.Q6559H|MACF1_ENST00000545844.1_Missense_Mutation_p.Q4463H|MACF1_ENST00000317713.7_Missense_Mutation_p.Q4463H|MACF1_ENST00000361689.2_Missense_Mutation_p.Q4463H|MACF1_ENST00000539005.1_Missense_Mutation_p.Q4333H|MACF1_ENST00000289893.4_Missense_Mutation_p.Q4965H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6530					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTTGGAGCAGAAGTGGCATG	0.438000													30	36					2.48696e-23	2.75274e-23	0.779181	1	0
PAX4	5078	broad.mit.edu	37	7	127253582	127253582	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:127253582G>T	ENST00000341640.2	-	5	748	c.543C>A	c.(541-543)ttC>ttA	p.F181L	PAX4_ENST00000463946.1_Missense_Mutation_p.F179L|PAX4_ENST00000338516.3_Missense_Mutation_p.F189L|PAX4_ENST00000378740.2_Missense_Mutation_p.F181L	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	189					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCCCACGCTGGAACTCTGCGG	0.587000													20	57					4.96729e-08	5.14469e-08	0.575678	1	0
OBSCN	84033	broad.mit.edu	37	1	228400372	228400372	+	Silent	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:228400372C>G	ENST00000570156.2	+	2	962	c.888C>G	c.(886-888)ctC>ctG	p.L296L	C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000422127.1_Silent_p.L296L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L296L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	296	Ig-like 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACTTCGTGCTCAAGATCCTCT	0.657000													42	110					0	0	0.870114	0	0
KIAA0754	643314	broad.mit.edu	37	1	39878981	39878981	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:39878981C>T	ENST00000530275.1	+	1	2831	c.2636C>T	c.(2635-2637)tCc>tTc	p.S879F	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	879	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGCCCACCTCCCCAGCTGCT	0.697000													12	17					0	0	0.479597	0	0
ALPP	250	broad.mit.edu	37	2	233245162	233245162	+	Silent	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:233245162C>G	ENST00000392027.2	+	7	1094	c.825C>G	c.(823-825)ctC>ctG	p.L275L	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	275						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCACTGAGCTCATGCAGGCTT	0.647000													65	117					0	0	0.870114	0	0
MLLT3	4300	broad.mit.edu	37	9	20414153	20414153	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:20414153C>G	ENST00000380338.4	-	5	977	c.691G>C	c.(691-693)Gaa>Caa	p.E231Q	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.E228Q|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TTAGAGGATTCTTTGGAAGAT	0.378000			T	MLL	ALL								40	129					0	0	0.870114	0	0
PDE3A	5139	broad.mit.edu	37	12	20766459	20766459	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:20766459C>G	ENST00000359062.3	+	3	1134	c.1094C>G	c.(1093-1095)tCt>tGt	p.S365C	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	365				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).	lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GCAGACCCTTCTCTTCCACCA	0.557000													60	45					0	0	0.870114	0	0
SLC25A27	9481	broad.mit.edu	37	6	46623750	46623750	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:46623750C>T	ENST00000371347.5	+	2	529	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S	SLC25A27_ENST00000452689.2_5'UTR|SLC25A27_ENST00000411689.2_Missense_Mutation_p.P93S	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	93					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			AGGAGTGACACCCGCCATTTA	0.453000													35	72					0	0	0.864702	0	0
CLEC4M	10332	broad.mit.edu	37	19	7833781	7833781	+	Silent	SNP	G	G	A	rs144974332		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:7833781G>A	ENST00000327325.5	+	7	1225	c.1107G>A	c.(1105-1107)gcG>gcA	p.A369A	CLEC4M_ENST00000596363.1_3'UTR|CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000595496.1_Silent_p.A233A|CLEC4M_ENST00000334806.5_Silent_p.A318A|CLEC4M_ENST00000359059.5_Silent_p.A302A|CLEC4M_ENST00000596707.1_Silent_p.A302A|CLEC4M_ENST00000394122.2_Silent_p.A357A|CLEC4M_ENST00000248228.4_Silent_p.A347A|CLEC4M_ENST00000597522.1_3'UTR	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	369	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AAGACTGTGCGGAATTTAGTG	0.512000													14	148					0	0	0.520397	0	0
LPL	4023	broad.mit.edu	37	8	19811640	19811640	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:19811640C>T	ENST00000311322.8	+	5	1021	c.551C>T	c.(550-552)cCa>cTa	p.P184L		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	184			P -> R (in LPL deficiency; Nijmegen; loss of activity).		fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GGCCTCGATCCAGCTGGACCT	0.453000													19	55					0	0	0.575678	0	0
SUCO	51430	broad.mit.edu	37	1	172558282	172558282	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:172558282C>G	ENST00000367723.4	+	17	2618	c.2494C>G	c.(2494-2496)Ctg>Gtg	p.L832V	SUCO_ENST00000610051.1_Intron|SUCO_ENST00000608151.1_Missense_Mutation_p.L833V|SUCO_ENST00000263688.3_Missense_Mutation_p.L681V	NM_016227.2	NP_057311.3			SUN domain containing ossification factor																		ATTGCAACCTCTGAGTGGAGA	0.408000													15	81					0	0	0.557998	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128844063	128844063	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:128844063G>C	ENST00000310343.9	-	20	2986	c.2987C>G	c.(2986-2988)tCa>tGa	p.S996*	ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.S647*|ARHGAP32_ENST00000524655.1_Nonsense_Mutation_p.S922*|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.S647*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	996					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGACTGCTTGAGACAGACTG	0.473000													21	43					0	0	0.592651	0	0
KCNS1	3787	broad.mit.edu	37	20	43727083	43727083	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr20:43727083G>A	ENST00000306117.1	-	4	726	c.330C>T	c.(328-330)ttC>ttT	p.F110F	KCNS1_ENST00000537075.1_Silent_p.F110F	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	110						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GGCTCAGGAAGAAGCCCGGGT	0.692000													11	11					0	0	0.479597	0	0
PHTF1	10745	broad.mit.edu	37	1	114247322	114247322	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:114247322A>C	ENST00000369604.1	-	14	2252	c.1769T>G	c.(1768-1770)aTt>aGt	p.I590S	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000393357.2_Missense_Mutation_p.I590S|PHTF1_ENST00000369596.2_Missense_Mutation_p.I537S|PHTF1_ENST00000357783.2_Missense_Mutation_p.I590S|PHTF1_ENST00000369598.1_Missense_Mutation_p.I545S|PHTF1_ENST00000369600.1_Missense_Mutation_p.I537S			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	590						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATATTTTAATATTCTCCAC	0.353000													10	25					0	0	0.361761	0	0
RP1	6101	broad.mit.edu	37	8	55539332	55539332	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:55539332A>G	ENST00000220676.1	+	4	3038	c.2890A>G	c.(2890-2892)Ata>Gta	p.I964V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	964					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCTGGAAAAATAAGTAATTT	0.328000													29	22					0	0	0.717897	0	0
SEMA3A	10371	broad.mit.edu	37	7	83636800	83636800	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:83636800C>A	ENST00000265362.4	-	10	1323	c.1009G>T	c.(1009-1011)Gga>Tga	p.G337*	SEMA3A_ENST00000436949.1_Nonsense_Mutation_p.G337*	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACGGCTGATCCCTTGAAAATG	0.388000													15	19					4.7546e-09	4.99578e-09	0.500413	1	0
PRDM5	11107	broad.mit.edu	37	4	121616352	121616352	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:121616352C>T	ENST00000264808.3	-	16	2047	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	PRDM5_ENST00000428209.2_Missense_Mutation_p.E572K|PRDM5_ENST00000515109.1_3'UTR|PRDM5_ENST00000506065.1_5'UTR	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	603					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AACTGGCATTCTGCCAGGGGA	0.428000													24	37					0	0	0.681144	0	0
NOP16	51491	broad.mit.edu	37	5	175811366	175811366	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:175811366G>A	ENST00000389158.5	-	5	838	c.403C>T	c.(403-405)Cgt>Tgt	p.R135C	NOP16_ENST00000510123.1_Intron|NOP16_ENST00000507413.1_Intron			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	135						nucleolus		p.R135S(1)|p.?(1)		central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						TTCTCATCACGGGCCATGGCC	0.458000													19	50					0	0	0.654019	0	0
ESPNP	284729	broad.mit.edu	37	1	17026513	17026513	+	RNA	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:17026513C>G	ENST00000492551.1	-	0	1172					NR_026567.1																						CGCAGGAGCTCGGCTGCGGGA	0.716000													3	21					0	0	0.115264	0	0
JRKL	8690	broad.mit.edu	37	11	96124087	96124087	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:96124087G>C	ENST00000458427.1	+	1	930	c.274G>C	c.(274-276)Gca>Cca	p.A92P	JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Missense_Mutation_p.A92P	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	92	HTH CENPB-type.				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		CCAGCAAAGAGCAAAAGGGAA	0.443000													46	17					0	0	0.870114	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450509	85450509	+	Silent	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:85450509A>G	ENST00000393217.2	+	8	1999	c.1938A>G	c.(1936-1938)ccA>ccG	p.P646P		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	646										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGGAGAACCCAAAAGACAATG	0.308000													6	13					0	0	0.217242	0	0
CD5L	922	broad.mit.edu	37	1	157803159	157803159	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:157803159C>T	ENST00000368174.4	-	5	958	c.862G>A	c.(862-864)Ggg>Agg	p.G288R		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	288	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGGGACTTCCCACAGCCCAGT	0.587000													43	125					0	0	0.864702	0	0
DBP	1628	broad.mit.edu	37	19	49136903	49136903	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:49136903G>A	ENST00000222122.5	-	3	1003	c.560C>T	c.(559-561)tCt>tTt	p.S187F	DBP_ENST00000601104.1_Missense_Mutation_p.S187F|DBP_ENST00000599385.1_5'UTR|DBP_ENST00000593500.1_5'UTR	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	187					regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		TGTGTCCCGAGAGGTCAGGCC	0.542000													29	81					0	0	0.740014	0	0
RB1	5925	broad.mit.edu	37	13	48955394	48955394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:48955394C>T	ENST00000267163.4	+	17	1648	c.1510C>T	c.(1510-1512)Cag>Tag	p.Q504*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	504	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.T502fs*22(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGTACATCTCAGAATCTTGA	0.284000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			4	5					0	0	0.184627	0	0
DUSP26	78986	broad.mit.edu	37	8	33451114	33451114	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:33451114C>T	ENST00000256261.4	-	3	890	c.373G>A	c.(373-375)Gac>Aac	p.D125N	DUSP26_ENST00000523956.1_Missense_Mutation_p.D125N	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	125	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		ATGCTCATGTCAAAGGCTGGC	0.642000													32	94					0	0	0.834066	0	0
POC1A	25886	broad.mit.edu	37	3	52179937	52179937	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:52179937T>C	ENST00000394970.2	-	6	921	c.604A>G	c.(604-606)Att>Gtt	p.I202V	POC1A_ENST00000474012.1_Missense_Mutation_p.I164V|POC1A_ENST00000296484.2_Missense_Mutation_p.I202V	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	202						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						GCAGCGGCAATGCACGTCCCA	0.592000													28	52					0	0	0.779181	0	0
APTX	54840	broad.mit.edu	37	9	32986023	32986023	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:32986023G>A	ENST00000379817.2	-	4	685	c.489C>T	c.(487-489)tcC>tcT	p.S163S	APTX_ENST00000463596.1_Silent_p.S163S|APTX_ENST00000468275.1_Silent_p.S163S|APTX_ENST00000436040.2_Silent_p.S163S|APTX_ENST00000309615.3_Silent_p.S177S|APTX_ENST00000379825.2_Silent_p.S177S|APTX_ENST00000476858.1_Silent_p.S123S|APTX_ENST00000397172.3_Silent_p.S105S|APTX_ENST00000379813.3_Silent_p.S163S|APTX_ENST00000379819.1_Silent_p.S177S			Q7Z2E3	APTX_HUMAN	aprataxin	177					cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		AGTGGCCCAGGGATTCCTaaa	0.308000								Editing and processing nucleases					10	44					0	0	0.361761	0	0
C12orf42	374470	broad.mit.edu	37	12	103699968	103699968	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:103699968C>T	ENST00000548048.1	-	8	710	c.214G>A	c.(214-216)Gag>Aag	p.E72K	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Missense_Mutation_p.E139K|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.E139K			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	139										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AATGGGGCCTCATCAGTTTCA	0.463000													17	14					0	0	0.592651	0	0
CSMD3	114788	broad.mit.edu	37	8	113318249	113318249	+	Silent	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:113318249G>T	ENST00000297405.5	-	51	8302	c.8058C>A	c.(8056-8058)acC>acA	p.T2686T	CSMD3_ENST00000455883.2_Silent_p.T2582T|CSMD3_ENST00000343508.3_Silent_p.T2646T|CSMD3_ENST00000352409.3_Silent_p.T2616T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2686	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACAGCGAGGGGTCTTGTTAT	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			38	109					1.08114e-33	1.21524e-33	0.870114	1	0
PCDHA3	56145	broad.mit.edu	37	5	140181188	140181188	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:140181188G>T	ENST00000522353.2	+	1	406	c.406G>T	c.(406-408)Gct>Tct	p.A136S	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A136S|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1												p.A136T(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCCAATGGCTGTAAAGAA	0.502000													4	125					0.150653	0.151175	0.150653	1	0
PTPRD	5789	broad.mit.edu	37	9	8460469	8460469	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:8460469G>A	ENST00000381196.4	-	30	4360	c.3817C>T	c.(3817-3819)Cct>Tct	p.P1273S	PTPRD_ENST00000355233.5_Missense_Mutation_p.P862S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1251S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1273S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1260S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P859S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P859S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P862S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1273S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P852S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P852S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1273					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCAAGGACAGGACCTACAACC	0.463000										TSP Lung(15;0.13)			39	42					0	0	0.847076	0	0
TMEM110	375346	broad.mit.edu	37	3	52883817	52883817	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:52883817C>A	ENST00000355083.5	-	4	563	c.418G>T	c.(418-420)Ggc>Tgc	p.G140C	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.G140C	NM_198563.2	NP_940965.1			transmembrane protein 110											kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		CCATATTCGCCGAAGCGCAGG	0.627000													58	14					9.4991e-31	1.06361e-30	0.870114	1	0
TBX5	6910	broad.mit.edu	37	12	114832653	114832653	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:114832653C>T	ENST00000310346.4	-	6	1222	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	TBX5_ENST00000526441.1_Missense_Mutation_p.V186M|TBX5_ENST00000405440.2_Missense_Mutation_p.V186M|TBX5_ENST00000349716.5_Missense_Mutation_p.V136M	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	186					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TCCGCTTTCACGATGTGTAAT	0.363000													109	101					0	0	0.870114	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457421	45457421	+	RNA	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:45457421C>T	ENST00000548424.1	+	0	448																											CAGGAGTGGTCACAGGTCCCA	0.458000													17	23					0	0	0.557998	0	0
RAG1	5896	broad.mit.edu	37	11	36595001	36595001	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:36595001G>A	ENST00000299440.5	+	2	259	c.147G>A	c.(145-147)aaG>aaA	p.K49K		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	49	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.K49N(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAAAGGAAAAGAAGGATTCCT	0.438000									Familial Hemophagocytic Lymphohistiocytosis				11	23					0	0	0.361761	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													5	90					0	0	0.217242	0	0
KLF5	688	broad.mit.edu	37	13	73636090	73636090	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:73636090C>T	ENST00000377687.4	+	2	889	c.353C>T	c.(352-354)tCa>tTa	p.S118L	KLF5_ENST00000539231.1_Missense_Mutation_p.S27L|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	118					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GACAGTGCCTCAGTCGTAGAC	0.443000													33	110					0	0	0.827153	0	0
MYO10	4651	broad.mit.edu	37	5	16694540	16694540	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:16694540A>G	ENST00000513610.1	-	27	4194	c.3740T>C	c.(3739-3741)aTg>aCg	p.M1247T	MYO10_ENST00000515803.1_Missense_Mutation_p.M586T|MYO10_ENST00000274203.9_Missense_Mutation_p.M604T|MYO10_ENST00000505695.1_Missense_Mutation_p.M586T|MYO10_ENST00000427430.2_Missense_Mutation_p.M604T	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1247	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTCAAAGTACATCAGCTTGGA	0.562000													58	134					0	0	0.870114	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266113	41266113	+	Missense_Mutation	SNP	C	C	G	rs121913416		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:41266113C>G	ENST00000349496.5	+	3	390	c.110C>G	c.(109-111)tCt>tGt	p.S37C	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGAATCCATTCTGGTGCCACT	0.498000	S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				19	20					0	0	0.575678	0	0
LEPRE1	64175	broad.mit.edu	37	1	43232529	43232529	+	Silent	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:43232529G>C	ENST00000236040.4	-	1	154	c.114C>G	c.(112-114)ctC>ctG	p.L38L	LEPRE1_ENST00000296388.5_Silent_p.L38L|LEPRE1_ENST00000397054.3_Silent_p.L38L	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	38					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCTCGGCGAAGAGCAGATCAG	0.711000													33	53					0	0	0.827153	0	0
UBE2M	9040	broad.mit.edu	37	19	59069644	59069644	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:59069644C>T	ENST00000253023.3	-	1	683	c.105G>A	c.(103-105)caG>caA	p.Q35Q		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	35	Interaction with UBA3.				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CCCTACCCTTCTGGATCCGCA	0.647000													17	58					0	0	0.575678	0	0
DEPDC5	9681	broad.mit.edu	37	22	32275583	32275583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr22:32275583G>A	ENST00000400246.1	+	38	4020	c.3878G>A	c.(3877-3879)tGg>tAg	p.W1293*	DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.W1193*|DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.W1271*|DEPDC5_ENST00000382112.3_Nonsense_Mutation_p.W1284*|DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.W1262*|DEPDC5_ENST00000539165.1_Nonsense_Mutation_p.W110*|DEPDC5_ENST00000382111.2_Nonsense_Mutation_p.W1293*|DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.W1262*|DEPDC5_ENST00000382105.2_Missense_Mutation_p.G1179S			O75140	DEPD5_HUMAN	DEP domain containing 5	1262					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGCGCAAGTGGTTTGAGGTG	0.612000													71	35					0	0	0.870114	0	0
ETV5	2119	broad.mit.edu	37	3	185766491	185766491	+	Silent	SNP	G	G	A	rs151057501		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:185766491G>A	ENST00000306376.5	-	13	1716	c.1470C>T	c.(1468-1470)ccC>ccT	p.P490P	ETV5_ENST00000434744.1_Silent_p.P490P|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Silent_p.P532P	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	490					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GGAGGTAAGCGGGGCTGTCTT	0.597000			T	"""TMPRSS2, SCL45A3"""	Prostate								33	70					0	0	0.812448	0	0
NUP98	4928	broad.mit.edu	37	11	3720533	3720533	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:3720533C>A	ENST00000324932.7	-	25	4208	c.3788G>T	c.(3787-3789)tGg>tTg	p.W1263L	NUP98_ENST00000355260.3_Missense_Mutation_p.W1263L|NUP98_ENST00000359171.4_Missense_Mutation_p.W1263L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1280					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CAGGTGGCCccatagggcttc	0.473000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								40	40					5.73435e-26	6.396e-26	0.870114	1	0
OR1L3	26735	broad.mit.edu	37	9	125438220	125438220	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:125438220G>A	ENST00000304820.2	+	1	906	c.812G>A	c.(811-813)cGa>cAa	p.R271Q		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						GTCAAGGACCGAATAGCAACA	0.408000													8	21					0	0	0.335167	0	0
KIF1C	10749	broad.mit.edu	37	17	4910784	4910784	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:4910784G>A	ENST00000320785.5	+	16	1795	c.1438G>A	c.(1438-1440)Ggg>Agg	p.G480R		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	480					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GGCTGAGATGGGGGTGGCCGT	0.607000													65	311					0	0	0.870114	0	0
CLVS2	134829	broad.mit.edu	37	6	123319295	123319295	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:123319295A>T	ENST00000275162.5	+	2	1708	c.373A>T	c.(373-375)Aat>Tat	p.N125Y	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2		CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TTTTGCTGCCAATTGGGATCA	0.483000													19	31					0	0	0.592651	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189001	50189001	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:50189001G>C	ENST00000335999.6	-	8	2843	c.2642C>G	c.(2641-2643)tCa>tGa	p.S881*		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	877										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTCGATGGCTGAGTGTGGGGC	0.662000													94	72					0	0	0.870114	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156945	26156945	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:26156945G>T	ENST00000304218.3	+	1	387	c.327G>T	c.(325-327)aaG>aaT	p.K109N		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	109	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AACTCAACAAGAAGGCGGCCT	0.622000													13	28					0.00010058	0.000102705	0.411799	1	0
FLT3	2322	broad.mit.edu	37	13	28597565	28597565	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:28597565C>G	ENST00000380982.4	-	19	2421	c.2340G>C	c.(2338-2340)ttG>ttC	p.L780F	FLT3_ENST00000537084.1_Missense_Mutation_p.L780F|FLT3_ENST00000241453.7_Missense_Mutation_p.L780F			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	780	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TAAGCACATTCAAGTCCTCCT	0.353000			"""Mis, O"""		"""AML, ALL"""								7	25					0	0	0.278610	0	0
PLAG1	5324	broad.mit.edu	37	8	57079893	57079893	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:57079893G>A	ENST00000316981.3	-	5	891	c.412C>T	c.(412-414)Cgt>Tgt	p.R138C	PLAG1_ENST00000429357.2_Missense_Mutation_p.R138C|PLAG1_ENST00000423799.2_Missense_Mutation_p.R56C	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	138	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GCCAAGTGACGTTTAAATCCA	0.448000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								9	30					0	0	0.387290	0	0
ANKRD12	23253	broad.mit.edu	37	18	9281059	9281059	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr18:9281059G>A	ENST00000262126.4	+	13	6364	c.6124G>A	c.(6124-6126)Gaa>Aaa	p.E2042K	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E2019K|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E2019K	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CAGCATTTACGAAATCCAGGA	0.418000													48	79					0	0	0.870114	0	0
RORA	6095	broad.mit.edu	37	15	60919554	60919554	+	Missense_Mutation	SNP	C	C	T	rs139672315	by1000genomes	TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr15:60919554C>T	ENST00000261523.5	-	1	108	c.20G>A	c.(19-21)gGa>gAa	p.G7E	RORA_ENST00000309157.4_Missense_Mutation_p.G7E|RORA_ENST00000335670.6_Intron|RORA_ENST00000560004.1_Intron|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA	NM_134260.2	NP_599022.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	7	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTCACTGTCTCCTGGGGCCCC	0.547000													44	87					0	0	0.870114	0	0
ARID1A	8289	broad.mit.edu	37	1	27106953	27106953	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:27106953G>T	ENST00000324856.7	+	20	6935	c.6564G>T	c.(6562-6564)caG>caT	p.Q2188H	ARID1A_ENST00000540690.1_Missense_Mutation_p.Q516H|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q1805H|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q1971H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2188					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.A2182fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTGCAGTGCAGAAGGGCAGTA	0.627000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								41	106					3.05275e-18	3.30335e-18	0.864702	1	0
PYCR1	5831	broad.mit.edu	37	17	79892301	79892301	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:79892301G>A	ENST00000337943.5	-	6	1140	c.698C>T	c.(697-699)tCt>tTt	p.S233F	PYCR1_ENST00000403172.4_Missense_Mutation_p.S202F|PYCR1_ENST00000329875.8_Missense_Mutation_p.S233F|PYCR1_ENST00000577756.1_Intron|PYCR1_ENST00000402252.2_Missense_Mutation_p.S260F	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	233					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	CCCACCAGGAGAGCTGACGTT	0.637000													5	40					0	0	0.184627	0	0
MDN1	23195	broad.mit.edu	37	6	90448114	90448114	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:90448114C>T	ENST00000369393.3	-	33	4769	c.4654G>A	c.(4654-4656)Gaa>Aaa	p.E1552K	MDN1_ENST00000428876.1_Missense_Mutation_p.E1552K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1552					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATTAAATCTTCACGGCTTGTG	0.393000													25	37					0	0	0.681144	0	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:71346978T>C	ENST00000413702.1	+	4	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.					extracellular region	protein binding	p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522000													5	208					0	0	0.248553	0	0
EIF4G3	8672	broad.mit.edu	37	1	21177865	21177865	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:21177865G>C	ENST00000602326.1	-	26	4091	c.3508C>G	c.(3508-3510)Cag>Gag	p.Q1170E	EIF4G3_ENST00000264211.8_Missense_Mutation_p.Q1164E|EIF4G3_ENST00000374935.3_Missense_Mutation_p.Q884E|EIF4G3_ENST00000536266.1_Missense_Mutation_p.Q768E|EIF4G3_ENST00000537738.1_Missense_Mutation_p.Q654E|EIF4G3_ENST00000374937.3_Missense_Mutation_p.Q1170E|EIF4G3_ENST00000400422.1_Missense_Mutation_p.Q1164E	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1164					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap 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)		TCTTGAGACTGATTGTCTAGC	0.522000													39	84					0	0	0.864702	0	0
CD1D	912	broad.mit.edu	37	1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:158151257delT	ENST00000368171.3	+	3	573	c.74delT	c.(73-75)cttfs	p.L25fs		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	25					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCGCAAAGGCTTTTCCCCCTC	0.592													7	868	---	---	---	---					
BHLHA15	168620	broad.mit.edu	37	7	97842081	97842083	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:97842081_97842083delCAG	ENST00000609256.1	+	2	586_588	c.460_462delCAG	c.(460-462)cagdel	p.Q158del	BHLHA15_ENST00000314018.2_In_Frame_Del_p.Q158del			Q7RTS1	BHA15_HUMAN	basic helix-loop-helix family, member a15						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CCAGCACTACCAGCAGCAGCAGC	0.665													3	4	---	---	---	---					
LRFN4	78999	broad.mit.edu	37	11	66627383	66627383	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:66627383delG	ENST00000309602.4	+	2	1868	c.1625delG	c.(1624-1626)cggfs	p.R542fs	LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	542						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GTTCGGGGCCGGGGGGCCGGA	0.716													21	58	---	---	---	---					
PLEKHG6	55200	broad.mit.edu	37	12	6436757	6436759	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:6436757_6436759delGAA	ENST00000449001.2	+	14	2406_2408	c.1912_1914delGAA	c.(1912-1914)gaadel	p.E639del	PLEKHG6_ENST00000011684.7_In_Frame_Del_p.E671del|PLEKHG6_ENST00000304581.8_In_Frame_Del_p.E201del|PLEKHG6_ENST00000396988.3_In_Frame_Del_p.E671del	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	671					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CTGGTCTGAGGAAGAAGATGGGG	0.631													5	6	---	---	---	---					
CDKN1B	1027	broad.mit.edu	37	12	12871015	12871016	+	Frame_Shift_Ins	INS	-	-	TTCT			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:12871015_12871016insTTCT	ENST00000228872.4	+	1	958_959	c.242_243insTTCT	c.(241-246)aagggcfs	p.K81fs	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.K81fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	81					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GAGGTGGAGAAGGGCAGCTTGC	0.614													72	102	---	---	---	---					
RP11-167N24.4	0	broad.mit.edu	37	12	95794463	95794464	+	RNA	DEL	CT	CT	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:95794463_95794464delCT	ENST00000548194.1	-	0	150																											CTCTCTCTTGCtctctctctct	0.485													2	4	---	---	---	---					
ATXN2L	11273	broad.mit.edu	37	16	28848080	28848080	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr16:28848080delC	ENST00000340394.8	+	23	3329	c.3117delC	c.(3115-3117)ttcfs	p.F1039fs	ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.F1063fs|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.F1057fs|ATXN2L_ENST00000395547.2_3'UTR|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.P1034fs|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.P1052fs|ATXN2L_ENST00000336783.4_3'UTR	NM_148415.2|NM_148416.2	NP_680781.1|NP_680782.1	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1037						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGCTCCCCTTCCACCCCCCGG	0.582													104	46	---	---	---	---					
ARHGEF15	22899	broad.mit.edu	37	17	8222137	8222138	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:8222137_8222138insG	ENST00000361926.3	+	12	2052_2053	c.1942_1943insG	c.(1942-1944)aggfs	p.R648fs	ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.R648fs|ARHGEF15_ENST00000582060.1_3'UTR	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	648					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGGGTGCCGGAGGGGGGGCGTG	0.634													7	812	---	---	---	---					
CCDC103	388389	broad.mit.edu	37	17	42980014	42980015	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:42980014_42980015delAG	ENST00000417826.2	+	4	653_654	c.558_559delAG	c.(556-561)gcagagfs	p.E187fs	CCDC103_ENST00000410006.2_Frame_Shift_Del_p.E187fs|FAM187A_ENST00000412523.2_Intron|FAM187A_ENST00000331733.4_5'UTR	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	187								p.E187K(1)		endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				TGAGCCGGGCAGAGAGAGAGAG	0.644													11	116	---	---	---	---					
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:74068528_74068530delGCC	ENST00000307877.2	-	1	204_206	c.43_45delGGC	c.(43-45)ggcdel	p.G15del	SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1).	response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						cgccgccactgccgccgccgccg	0.709													8	118	---	---	---	---					
KIAA1683	80726	broad.mit.edu	37	19	18378205	18378206	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:18378205_18378206delTC	ENST00000392413.4	-	3	359_360	c.144_145delGA	c.(142-147)gagaaafs	p.K49fs	KIAA1683_ENST00000600359.3_Frame_Shift_Del_p.K3fs|KIAA1683_ENST00000600328.3_Frame_Shift_Del_p.K49fs	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGAGGCGCTTTCTCCATTTTGT	0.653													64	163	---	---	---	---					
SPTBN4	57731	broad.mit.edu	37	19	41076449	41076450	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:41076449_41076450insA	ENST00000352632.3	+	33	7220_7221	c.7134_7135insA	c.(7135-7137)aagfs	p.K2379fs	SPTBN4_ENST00000598249.1_Frame_Shift_Ins_p.K2379fs|SPTBN4_ENST00000392025.1_Frame_Shift_Ins_p.K1122fs			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2379					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|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)			gggaccggcccaagccgcgacg	0.812													6	9	---	---	---	---					
