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
TTN	7273	broad.mit.edu	37	2	179569097	179569097	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:179569097C>G	ENST00000589042.1	-	106	30224	c.30000G>C	c.(29998-30000)ctG>ctC	p.L10000L	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.L8756L|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.L9683L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9683	Glu-rich.						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)			GGCCTTCTTTCAGAGTCACAT	0.428000													16	338					0	0	0.028581	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64526833	64526833	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:64526833G>A	ENST00000498707.1	-	36	5801	c.5459C>T	c.(5458-5460)aCg>aTg	p.T1820M	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.T1792M	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1820	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCCAGCGGCCGTGTAATCCTT	0.468000													57	101					0	0	0.048971	0	0
DNAH5	1767	broad.mit.edu	37	5	13901452	13901452	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:13901452G>A	ENST00000265104.4	-	14	2065	c.1961C>T	c.(1960-1962)gCa>gTa	p.A654V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	654	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTGGCTTCTGCCGTGCTTAG	0.562000									Kartagener syndrome				4	92					0	0	0.021553	0	0
SNRPD2	6633	broad.mit.edu	37	19	46190931	46190931	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:46190931C>G	ENST00000342669.3	-	3	681	c.237G>C	c.(235-237)aaG>aaC	p.K79N	SNRPD2_ENST00000590212.1_3'UTR|SNRPD2_ENST00000587367.1_Missense_Mutation_p.K69N|SNRPD2_ENST00000588599.1_Missense_Mutation_p.K69N|SNRPD2_ENST00000588301.1_Missense_Mutation_p.K79N|SNRPD2_ENST00000391932.3_Missense_Mutation_p.K69N|SNRPD2_ENST00000585392.1_Missense_Mutation_p.K15N	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	79					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		CCTTGCCACTCTTGGGTACCT	0.597000													5	208					0	0	0.021553	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563086	140563086	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:140563086C>T	ENST00000361016.2	+	1	2107	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		318	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTATGAAGTGCGCATCAAAGC	0.473000													12	183					0	0	0.093190	0	0
GIPC1	10755	broad.mit.edu	37	19	14591259	14591259	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:14591259G>A	ENST00000393033.4	-	6	782	c.513C>T	c.(511-513)ctC>ctT	p.L171L	GIPC1_ENST00000393029.3_Silent_p.L74L|GIPC1_ENST00000345425.2_Silent_p.L171L|GIPC1_ENST00000393028.1_Silent_p.L74L|GIPC1_ENST00000586027.1_Silent_p.L171L|GIPC1_ENST00000591349.1_Silent_p.L74L	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	171	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CCACGCTGATGAGGTGGATGT	0.682000											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	326					0	0	0.021553	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74712757	74712757	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:74712757G>A	ENST00000380494.5	-	8	1458	c.1165C>T	c.(1165-1167)Cat>Tat	p.H389Y	COL4A3BP_ENST00000405807.4_Missense_Mutation_p.H261Y|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.H261Y	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	261	START.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TCAATACAATGAGAAAGTGTT	0.353000													6	272					0	0	0.029380	0	0
SLC20A1	6574	broad.mit.edu	37	2	113410356	113410356	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:113410356C>T	ENST00000272542.3	+	5	1178	c.639C>T	c.(637-639)atC>atT	p.I213I	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	213					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TCTTTTCCATCATGTATACTG	0.353000													7	273					0	0	0.038147	0	0
DLEC1	9940	broad.mit.edu	37	3	38101288	38101288	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:38101288G>A	ENST00000308059.6	+	3	639	c.618G>A	c.(616-618)ttG>ttA	p.L206L	DLEC1_ENST00000452631.2_Silent_p.L206L|DLEC1_ENST00000346219.3_Silent_p.L206L			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	206					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AACATCATTTGATCTCCCCAG	0.478000													21	444					0	0	0.055883	0	0
LMTK3	114783	broad.mit.edu	37	19	49001313	49001313	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:49001313C>T	ENST00000600059.1	-	11	3240	c.3013G>A	c.(3013-3015)Gag>Aag	p.E1005K	LMTK3_ENST00000270238.3_Missense_Mutation_p.E1034K					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCCCCATTCTCTGACACCTTG	0.647000													10	365					0	0	0.069234	0	0
CLSPN	63967	broad.mit.edu	37	1	36228043	36228043	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:36228043C>G	ENST00000251195.5	-	5	880	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	CLSPN_ENST00000373220.3_Missense_Mutation_p.E262Q|CLSPN_ENST00000318121.3_Missense_Mutation_p.E262Q|CLSPN_ENST00000520551.1_Missense_Mutation_p.E262Q			Q9HAW4	CLSPN_HUMAN	claspin	262					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTCCTTCCTCAAATGAATGG	0.388000													4	146					0	0	0.014758	0	0
LRRC8C	84230	broad.mit.edu	37	1	90178478	90178478	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:90178478G>C	ENST00000370454.4	+	3	604	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	117						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GATGTGTTATGAGCGAGCCCT	0.453000													8	222					0	0	0.047766	0	0
PXN	5829	broad.mit.edu	37	12	120652792	120652792	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:120652792C>T	ENST00000397506.3	-	6	1603	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	PXN_ENST00000424649.2_Missense_Mutation_p.A338T|PXN_ENST00000267257.7_Missense_Mutation_p.A386T|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000536957.1_Missense_Mutation_p.A370T|PXN_ENST00000458477.2_Missense_Mutation_p.A205T|PXN_ENST00000228307.7_Missense_Mutation_p.A372T			P49023	PAXI_HUMAN	paxillin	372					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCCCATGGCGGTCACAACC	0.662000													19	12					0	0	0.049695	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387755	46387755	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:46387755C>T	ENST00000302165.3	-	1	1621	c.1278G>A	c.(1276-1278)ctG>ctA	p.L426L		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CCACATTCTTCAGGGCGGCAA	0.716000													4	114					0	0	0.009096	0	0
CHERP	10523	broad.mit.edu	37	19	16634068	16634068	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:16634068C>T	ENST00000546361.2	-	11	1926	c.1775G>A	c.(1774-1776)cGc>cAc	p.R592H	CHERP_ENST00000198939.6_Missense_Mutation_p.R603H|CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	592	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ATGAGGCATGCGGTGGCCAGG	0.652000													5	267					0	0	0.021553	0	0
DDN	23109	broad.mit.edu	37	12	49391846	49391846	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:49391846C>G	ENST00000421952.2	-	2	834	c.813G>C	c.(811-813)aaG>aaC	p.K271N		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	271						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		p.K217K(1)		NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GATCCAGCCTCTTCTTTGTGC	0.657000													6	270					0	0	0.038147	0	0
TMEM231	79583	broad.mit.edu	37	16	75579249	75579249	+	Splice_Site	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:75579249C>T	ENST00000398114.2	-	3	708		c.e3+1		RP11-77K12.8_ENST00000564489.1_RNA|RP11-77K12.7_ENST00000460606.1_Splice_Site|TMEM231_ENST00000258173.6_Splice_Site|TMEM231_ENST00000565067.1_Intron|TMEM231_ENST00000569294.1_Splice_Site	NM_001077416.1	NP_001070884.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231							integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGCGCTCTTACGTTGTATCGG	0.507000													71	148					0	0	0.048971	0	0
DCAF16	54876	broad.mit.edu	37	4	17805694	17805694	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:17805694T>C	ENST00000382247.1	-	3	1131	c.71A>G	c.(70-72)tAc>tGc	p.Y24C	DCAF16_ENST00000536863.1_Missense_Mutation_p.Y24C	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	24						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						CTCATTTAGGTAACTAATATT	0.438000													6	72					0	0	0.021553	0	0
NPHP4	261734	broad.mit.edu	37	1	5927943	5927943	+	Missense_Mutation	SNP	G	G	A	rs139767853	by1000genomes	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:5927943G>A	ENST00000378156.4	-	24	3594	c.3329C>T	c.(3328-3330)gCg>gTg	p.A1110V	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1110					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCCACCACTCGCTCGGAACAA	0.607000													27	44					0	0	0.099896	0	0
ST18	9705	broad.mit.edu	37	8	53079543	53079543	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:53079543G>A	ENST00000276480.7	-	11	1756	c.1073C>T	c.(1072-1074)tCa>tTa	p.S358L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	358						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGGCCTTGGTGAATCTATGGA	0.493000													158	177					0	0	0.048971	0	0
JMJD6	23210	broad.mit.edu	37	17	74721784	74721784	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:74721784G>C	ENST00000445478.2	-	2	486	c.283C>G	c.(283-285)Cgg>Ggg	p.R95G	JMJD6_ENST00000585429.1_Missense_Mutation_p.R95G|JMJD6_ENST00000397625.4_Missense_Mutation_p.R95G	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	95					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TTCTGGTTCCGATATTTCCTT	0.473000													10	241					0	0	0.069234	0	0
NTRK2	4915	broad.mit.edu	37	9	87325654	87325654	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:87325654G>A	ENST00000304053.6	+	6	1014	c.531G>A	c.(529-531)ctG>ctA	p.L177L	NTRK2_ENST00000395882.1_Silent_p.L177L|NTRK2_ENST00000376214.1_Silent_p.L177L|NTRK2_ENST00000323115.4_Silent_p.L177L|NTRK2_ENST00000277120.3_Silent_p.L177L|NTRK2_ENST00000395866.2_Silent_p.L21L|NTRK2_ENST00000359847.3_Silent_p.L177L|NTRK2_ENST00000376208.1_Silent_p.L177L|NTRK2_ENST00000376213.1_Silent_p.L177L	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	177	LRRCT.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TGTACTGCCTGAATGAAAGCA	0.403000										TSP Lung(25;0.17)			5	124					0	0	0.014758	0	0
SLC39A3	29985	broad.mit.edu	37	19	2732943	2732943	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:2732943C>G	ENST00000269740.4	-	3	1080	c.751G>C	c.(751-753)Gag>Cag	p.E251Q	AC006538.4_ENST00000586572.1_Intron|SLC39A3_ENST00000545664.1_Missense_Mutation_p.E251Q	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	251						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		TGGGCGCTCTCAATGCCCAGG	0.706000													5	102					0	0	0.021553	0	0
PDE4C	5143	broad.mit.edu	37	19	18321950	18321950	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:18321950G>C	ENST00000355502.3	-	19	2799	c.1928C>G	c.(1927-1929)tCa>tGa	p.S643*	PDE4C_ENST00000594465.2_Nonsense_Mutation_p.S643*|PDE4C_ENST00000594617.2_Nonsense_Mutation_p.S643*|PDE4C_ENST00000262805.11_Nonsense_Mutation_p.S611*|PDE4C_ENST00000539010.1_Nonsense_Mutation_p.S412*|PDE4C_ENST00000447275.2_Nonsense_Mutation_p.S537*|AC068499.10_ENST00000594805.2_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	643					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.S643*(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGTGAGGTCTGAGGGACTTCG	0.597000													5	289					0	0	0.038147	0	0
ZAN	7455	broad.mit.edu	37	7	100365621	100365621	+	RNA	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:100365621C>G	ENST00000542585.1	+	0	5176				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_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)			GCGGCCAGCTCTGTGGGCTGT	0.602000													5	35					0	0	0.021553	0	0
CTCFL	140690	broad.mit.edu	37	20	56099082	56099082	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:56099082G>A	ENST00000426658.2	-	1	841	c.180C>T	c.(178-180)gtC>gtT	p.V60V	CTCFL_ENST00000243914.3_Silent_p.V60V|CTCFL_ENST00000371196.2_Silent_p.V60V|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.2_Silent_p.V60V|CTCFL_ENST00000432255.2_Silent_p.V60V|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000429804.2_Silent_p.V60V|CTCFL_ENST00000423479.2_Silent_p.V60V|CTCFL_ENST00000422869.2_Silent_p.V60V|CTCFL_ENST00000422109.2_Silent_p.V60V			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	60					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTTCCTCCAGGACGCTGTCCT	0.587000													134	284					0	0	0.048971	0	0
OR2T4	127074	broad.mit.edu	37	1	248525533	248525533	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:248525533G>A	ENST00000366475.1	+	1	651	c.651G>A	c.(649-651)ttG>ttA	p.L217L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGCTGTATTGAATCTCTCCT	0.478000													13	282					0	0	0.105934	0	0
CRNKL1	51340	broad.mit.edu	37	20	20026038	20026038	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:20026038C>T	ENST00000377340.2	-	7	1229	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	CRNKL1_ENST00000377327.4_Missense_Mutation_p.E388K|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E239K	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	400					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						ACAGCTCTCTCATACACTTTC	0.418000													8	289					0	0	0.038147	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955701	51955701	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:51955701G>A	ENST00000321424.3	-	7	1498	c.1432C>T	c.(1432-1434)Cga>Tga	p.R478*	SIGLEC8_ENST00000430817.1_Nonsense_Mutation_p.R369*|SIGLEC8_ENST00000340550.5_Nonsense_Mutation_p.R385*	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	478					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCAGTTTCTCGCTTGTGGATC	0.517000													73	255					0	0	0.048971	0	0
ATP1B2	482	broad.mit.edu	37	17	7557557	7557557	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:7557557C>G	ENST00000250111.4	+	4	941	c.534C>G	c.(532-534)gtC>gtG	p.V178V		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	178					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		AGCCCTGTGTCTTCATCAAGA	0.567000													134	249					0	0	0.048971	0	0
SBF1	6305	broad.mit.edu	37	22	50898407	50898407	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:50898407G>C	ENST00000380817.2	-	26	3648	c.3465C>G	c.(3463-3465)gtC>gtG	p.V1155V	SBF1_ENST00000348911.6_Silent_p.V1156V|SBF1_ENST00000390679.3_Silent_p.V1155V	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1155	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACATGCGGTTGACCGGAGAAA	0.677000													5	155					0	0	0.014758	0	0
DSP	1832	broad.mit.edu	37	6	7572178	7572178	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:7572178G>A	ENST00000379802.3	+	15	2348	c.2007G>A	c.(2005-2007)ctG>ctA	p.L669L	DSP_ENST00000418664.2_Silent_p.L669L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	669	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CATGGATGCTGATGGAGCTGC	0.458000													6	118					0	0	0.021553	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135096618	135096618	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:135096618G>A	ENST00000368563.2	-	15	2609	c.2253C>T	c.(2251-2253)ctC>ctT	p.L751L	TUBGCP2_ENST00000543663.1_Silent_p.L779L|TUBGCP2_ENST00000368562.1_Silent_p.L344L|TUBGCP2_ENST00000417178.2_Silent_p.L621L|TUBGCP2_ENST00000252936.3_Silent_p.L751L	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	751					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		ACACAGACATGAGCTTGGAGA	0.612000													7	123					0	0	0.029380	0	0
ATP1A4	480	broad.mit.edu	37	1	160128899	160128899	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:160128899C>G	ENST00000368081.4	+	5	1104	c.633C>G	c.(631-633)ctC>ctG	p.L211L		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	211					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGCTGACCTCCGGCTTATCT	0.532000													5	132					0	0	0.014758	0	0
CNDP2	55748	broad.mit.edu	37	18	72180810	72180810	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:72180810G>A	ENST00000324262.4	+	8	1075	c.759G>A	c.(757-759)aaG>aaA	p.K253K	CNDP2_ENST00000579847.1_Silent_p.K253K|CNDP2_ENST00000324301.8_Silent_p.K169K	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	253						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TGGTGGACAAGAGGGGGAACA	0.607000													22	93					0	0	0.069288	0	0
BEST4	266675	broad.mit.edu	37	1	45250344	45250344	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:45250344C>T	ENST00000372207.3	-	8	1104	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	369						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CGCAGAGACTCGGCCGCCGTG	0.657000													5	27					0	0	0.021553	0	0
ZC3H4	23211	broad.mit.edu	37	19	47585472	47585472	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:47585472G>A	ENST00000253048.5	-	10	1336	c.1299C>T	c.(1297-1299)tgC>tgT	p.C433C	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	433							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CAGCTCTGGCGCAAAATCCAG	0.463000													5	292					0	0	0.014758	0	0
SRCAP	10847	broad.mit.edu	37	16	30727497	30727497	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:30727497C>G	ENST00000262518.4	+	17	2989	c.2604C>G	c.(2602-2604)ctC>ctG	p.L868L	SRCAP_ENST00000344771.4_Silent_p.L868L|SRCAP_ENST00000395059.2_Silent_p.L868L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	868					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AACGCTGTCTCTATGATGACT	0.512000													10	173					0	0	0.093190	0	0
KIAA1715	80856	broad.mit.edu	37	2	176794913	176794913	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:176794913C>G	ENST00000272748.4	-	13	1316	c.1069G>C	c.(1069-1071)Gat>Cat	p.D357H	KIAA1715_ENST00000535310.1_3'UTR|KIAA1715_ENST00000544803.1_Missense_Mutation_p.D388H	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	357						integral to membrane	protein binding	p.D357Y(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TCAAGAACATCGTGTTCTAAA	0.353000													3	169					0	0	0.004672	0	0
LRRC7	57554	broad.mit.edu	37	1	70518708	70518708	+	Splice_Site	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:70518708G>C	ENST00000310961.5	+	23	4288		c.e23-1		LRRC7_ENST00000415775.2_Splice_Site|LRRC7_ENST00000035383.5_Splice_Site			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTTTGCAATAGACCCCGTCCC	0.393000													8	196					0	0	0.038147	0	0
ODC1	4953	broad.mit.edu	37	2	10582007	10582007	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:10582007C>T	ENST00000234111.4	-	10	1472	c.962G>A	c.(961-963)gGc>gAc	p.G321D	ODC1_ENST00000405333.1_Missense_Mutation_p.G321D	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	321					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	TCCATAGACGCCATCATTCAC	0.373000													92	149					0	0	0.048971	0	0
HIST2H2AB	317772	broad.mit.edu	37	1	149859462	149859462	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:149859462G>A	ENST00000331128.3	-	1	4	c.5C>T	c.(4-6)tCa>tTa	p.S2L	BOLA1_ENST00000369153.2_5'UTR	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	2					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TCCGCGTCCTGACATTACGGC	0.537000													12	263					0	0	0.020292	0	0
JMJD6	23210	broad.mit.edu	37	17	74721741	74721741	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:74721741G>A	ENST00000445478.2	-	2	529	c.326C>T	c.(325-327)tCa>tTa	p.S109L	JMJD6_ENST00000585429.1_Missense_Mutation_p.S109L|JMJD6_ENST00000397625.4_Missense_Mutation_p.S109L	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	109					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CATCTTCACTGAGTAGCCATC	0.463000													11	262					0	0	0.069234	0	0
DENND4C	55667	broad.mit.edu	37	9	19316773	19316773	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:19316773C>G	ENST00000380432.2	+	8	1068	c.1035C>G	c.(1033-1035)ctC>ctG	p.L345L	DENND4C_ENST00000434457.2_Silent_p.L581L|DENND4C_ENST00000602925.1_Silent_p.L581L|DENND4C_ENST00000307015.9_5'UTR	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	345	dDENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAACATATCTCAGACCAATCA	0.393000													6	314					0	0	0.029380	0	0
MLH1	4292	broad.mit.edu	37	3	37081681	37081681	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:37081681C>T	ENST00000231790.2	+	14	1779	c.1563C>T	c.(1561-1563)ctC>ctT	p.L521L	MLH1_ENST00000435176.1_Silent_p.L423L|MLH1_ENST00000455445.2_Silent_p.L280L|MLH1_ENST00000458205.2_Silent_p.L280L|MLH1_ENST00000536378.1_Silent_p.L280L|MLH1_ENST00000539477.1_Silent_p.L280L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	521	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TTGCAGTTCTCCGGGAGATGT	0.458000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				4	142					0	0	0.009096	0	0
RMDN2	151393	broad.mit.edu	37	2	38178795	38178795	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:38178795C>G	ENST00000407257.1	+	2	584	c.437C>G	c.(436-438)cCt>cGt	p.P146R	RMDN2_ENST00000234195.3_Missense_Mutation_p.P146R|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.P146R|RMDN2_ENST00000354545.2_Intron					regulator of microtubule dynamics 2																		TTTTTTGATCCTCAAGCAAGT	0.353000													5	144					0	0	0.014758	0	0
NRCAM	4897	broad.mit.edu	37	7	107866787	107866787	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:107866787G>C	ENST00000379028.3	-	9	1056	c.586C>G	c.(586-588)Caa>Gaa	p.Q196E	NRCAM_ENST00000379024.4_Missense_Mutation_p.Q196E|NRCAM_ENST00000413765.2_Missense_Mutation_p.Q196E|NRCAM_ENST00000379022.4_Missense_Mutation_p.Q196E|NRCAM_ENST00000425651.2_Missense_Mutation_p.Q196E|NRCAM_ENST00000351718.4_Missense_Mutation_p.Q190E			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	196	Ig-like 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTCAAACCTTGAGAAACTCTC	0.403000													6	252					0	0	0.021553	0	0
KIAA1407	57577	broad.mit.edu	37	3	113724691	113724691	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:113724691G>C	ENST00000295878.3	-	10	1678	c.1532C>G	c.(1531-1533)tCt>tGt	p.S511C	KIAA1407_ENST00000545063.1_Missense_Mutation_p.S342C	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	511										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGCACTCAGAGAGACATTCTG	0.537000													8	458					0	0	0.038147	0	0
LIPA	3988	broad.mit.edu	37	10	90974779	90974779	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:90974779G>A	ENST00000336233.5	-	10	1328	c.1006C>T	c.(1006-1008)Ccg>Tcg	p.P336S	LIPA_ENST00000371837.1_Missense_Mutation_p.P280S|LIPA_ENST00000456827.1_Missense_Mutation_p.P336S			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	336					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		ACTGCAGTCGGCACAAGCATG	0.448000													4	143					0	0	0.014758	0	0
FBN3	84467	broad.mit.edu	37	19	8138080	8138080	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:8138080C>G	ENST00000600128.1	-	62	8218	c.7804G>C	c.(7804-7806)Gat>Cat	p.D2602H	FBN3_ENST00000601739.1_Missense_Mutation_p.D2602H|FBN3_ENST00000270509.2_Missense_Mutation_p.D2602H			Q75N90	FBN3_HUMAN	fibrillin 3	2602	EGF-like 43; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGGCCTGATCAAAGTCAAAG	0.662000													58	154					0	0	0.048971	0	0
GPR182	11318	broad.mit.edu	37	12	57389816	57389816	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:57389816C>A	ENST00000300098.1	+	2	1042	c.823C>A	c.(823-825)Cat>Aat	p.H275N		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	275						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GCTGCCCTATCATGTGACCCT	0.607000													11	519					0.00010058	0.000104246	0.093190	1	0
AXIN2	8313	broad.mit.edu	37	17	63532463	63532463	+	Missense_Mutation	SNP	C	C	T	rs121908567		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:63532463C>T	ENST00000307078.5	-	8	2429	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	AXIN2_ENST00000375702.5_Missense_Mutation_p.E641K	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	706					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTCGACACCTCAGCTAGCCTG	0.642000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				3	24					0	0	0.004672	0	0
PWP1	11137	broad.mit.edu	37	12	108082473	108082473	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:108082473C>T	ENST00000412830.3	+	3	381	c.213C>T	c.(211-213)cgC>cgT	p.R71R	PWP1_ENST00000541166.1_Silent_p.R9R	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	71					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						CCCAGGCACGCCCAAGAGAGC	0.522000													39	100					0	0	0.086207	0	0
MAP3K8	1326	broad.mit.edu	37	10	30749691	30749691	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:30749691C>G	ENST00000263056.1	+	9	2026	c.1330C>G	c.(1330-1332)Ctc>Gtc	p.L444V	MAP3K8_ENST00000542547.1_Missense_Mutation_p.L444V|MAP3K8_ENST00000375321.1_Missense_Mutation_p.L444V	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	444			Missing (in oncogenic form).		cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				GCAACGCTCTCTCTACATCGA	0.463000													7	180					0	0	0.029380	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237154	140237154	+	Silent	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:140237154G>T	ENST00000307360.5	+	1	1521	c.1521G>T	c.(1519-1521)gtG>gtT	p.V507V	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.V507V|PCDHA4_ENST00000530339.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCTACGTGTCGGTGCACG	0.692000													9	237					7.48243e-07	7.8085e-07	0.058154	1	0
SIM1	6492	broad.mit.edu	37	6	100901696	100901696	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:100901696G>C	ENST00000369208.3	-	3	982	c.200C>G	c.(199-201)tCa>tGa	p.S67*	SIM1_ENST00000262901.4_Nonsense_Mutation_p.S67*			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	67					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGTCCGACTTGAGTGGCCCCA	0.617000													52	106					0	0	0.048971	0	0
ATAD2B	54454	broad.mit.edu	37	2	24033258	24033258	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:24033258G>C	ENST00000238789.5	-	18	2725	c.2382C>G	c.(2380-2382)ttC>ttG	p.F794L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	794							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATGCACAGAGAATCTTTCTA	0.478000													5	102					0	0	0.021553	0	0
ARAP3	64411	broad.mit.edu	37	5	141059994	141059994	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:141059994C>G	ENST00000239440.4	-	2	125	c.60G>C	c.(58-60)caG>caC	p.Q20H	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	20	SAM.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGTCTGCATACTGCTCCAGGT	0.677000													5	121					0	0	0.014758	0	0
RGP1	9827	broad.mit.edu	37	9	35751361	35751361	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:35751361G>C	ENST00000378078.4	+	6	727	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	RGP1_ENST00000456972.2_Missense_Mutation_p.E236Q	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	196										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCTAGCTGAGCTGGCTGG	0.547000													5	139					0	0	0.014758	0	0
TOPBP1	11073	broad.mit.edu	37	3	133347312	133347312	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:133347312C>G	ENST00000260810.5	-	16	2829	c.2698G>C	c.(2698-2700)Gaa>Caa	p.E900Q		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	900	BRCT 6.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTTGGGGCTTCTTCCTGTCCA	0.373000								Other conserved DNA damage response genes					4	42					0	0	0.009096	0	0
ZNF197	10168	broad.mit.edu	37	3	44684611	44684611	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:44684611G>C	ENST00000396058.1	+	5	2156	c.1989G>C	c.(1987-1989)aaG>aaC	p.K663N	ZNF197_ENST00000344387.4_Missense_Mutation_p.K663N|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000383745.2_Intron|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	663					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TTCTGAAGAAGAGCCTCATTT	0.403000													3	95					0	0	0.004672	0	0
ZNF704	619279	broad.mit.edu	37	8	81733769	81733769	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:81733769G>C	ENST00000327835.3	-	2	292	c.61C>G	c.(61-63)Caa>Gaa	p.Q21E		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	21						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			AACACGTGTTGATGAGACATT	0.438000													23	783					0	0	0.076483	0	0
ZNF394	84124	broad.mit.edu	37	7	99091737	99091737	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:99091737G>C	ENST00000337673.6	-	3	1304	c.1101C>G	c.(1099-1101)ttC>ttG	p.F367L	ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	367					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGCGTTGTTTGAAACTCTTCC	0.483000													7	269					0	0	0.038147	0	0
TRIM56	81844	broad.mit.edu	37	7	100732101	100732101	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:100732101G>C	ENST00000306085.6	+	3	1805	c.1508G>C	c.(1507-1509)gGa>gCa	p.G503A		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	503					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CGGATGCCTGGAGACAAGCGG	0.657000													82	194					0	0	0.048971	0	0
PCED1A	64773	broad.mit.edu	37	20	2820550	2820550	+	Silent	SNP	G	G	A	rs143418384		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:2820550G>A	ENST00000360652.2	-	2	511	c.9C>T	c.(7-9)ttC>ttT	p.F3F	PCED1A_ENST00000356872.3_Silent_p.F3F	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		TCGACAGACAGAAGACCATGC	0.647000													15	32					0	0	0.028581	0	0
EHBP1	23301	broad.mit.edu	37	2	63053232	63053232	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:63053232C>G	ENST00000263991.5	+	6	805	c.323C>G	c.(322-324)tCt>tGt	p.S108C	AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000354487.3_Missense_Mutation_p.S108C|EHBP1_ENST00000405289.1_Missense_Mutation_p.S108C|EHBP1_ENST00000405015.3_Missense_Mutation_p.S108C|EHBP1_ENST00000431489.1_Missense_Mutation_p.S108C	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	108						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAATCCCCTTCTGGTCGAAGG	0.318000													3	107					0	0	0.004672	0	0
FXR1	8087	broad.mit.edu	37	3	180651167	180651167	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:180651167G>C	ENST00000357559.4	+	2	481	c.97G>C	c.(97-99)Gaa>Caa	p.E33Q	FXR1_ENST00000468861.1_Intron|FXR1_ENST00000445140.2_Missense_Mutation_p.E33Q|FXR1_ENST00000305586.7_5'UTR|FXR1_ENST00000491062.1_Intron|FXR1_ENST00000480918.1_Missense_Mutation_p.E20Q	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	33					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGTTGTTTTTGAAAATAAGTA	0.338000													25	77					0	0	0.034045	0	0
KIAA2026	158358	broad.mit.edu	37	9	5920395	5920395	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:5920395G>A	ENST00000399933.3	-	8	5600	c.5601C>T	c.(5599-5601)ttC>ttT	p.F1867F	KIAA2026_ENST00000381461.2_Silent_p.F1837F	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1867										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AAGGTTCACTGAACTGACTCC	0.448000													13	345					0	0	0.093190	0	0
CLSPN	63967	broad.mit.edu	37	1	36226773	36226773	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:36226773C>G	ENST00000251195.5	-	7	1024	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	CLSPN_ENST00000373220.3_Missense_Mutation_p.E310Q|CLSPN_ENST00000318121.3_Missense_Mutation_p.E310Q|CLSPN_ENST00000520551.1_Missense_Mutation_p.E310Q			Q9HAW4	CLSPN_HUMAN	claspin	310					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTTTATTCTCAGGCATATGA	0.358000													8	177					0	0	0.058154	0	0
UBOX5	22888	broad.mit.edu	37	20	3102039	3102039	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:3102039A>G	ENST00000217173.2	-	3	1717	c.1246T>C	c.(1246-1248)Tgc>Cgc	p.C416R	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Missense_Mutation_p.C416R	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN	U-box domain containing 5	416						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CCTGTCGAGCAGTCCATATGT	0.532000													49	78					0	0	0.048971	0	0
OR52D1	390066	broad.mit.edu	37	11	5510656	5510656	+	Silent	SNP	T	T	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:5510656T>C	ENST00000322641.5	+	1	742	c.720T>C	c.(718-720)gcT>gcC	p.A240A	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACAAAGCTCTGAGTACCT	0.512000													8	279					0	0	0.080935	0	0
ITGB1	3688	broad.mit.edu	37	10	33200866	33200866	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:33200866G>A	ENST00000396033.2	-	12	1791	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	ITGB1_ENST00000423113.1_Silent_p.F552F|ITGB1_ENST00000374956.4_Silent_p.F552F|ITGB1_ENST00000302278.3_Silent_p.F552F	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	552	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CACACTCGCAGAATTTGCCAG	0.398000													14	262					0	0	0.020292	0	0
PRDM12	59335	broad.mit.edu	37	9	133542052	133542052	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:133542052C>G	ENST00000253008.2	+	2	341	c.281C>G	c.(280-282)tCc>tGc	p.S94C		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	94	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GCTCAGAGCTCCATCCCTGGC	0.672000													6	197					0	0	0.029380	0	0
POLR3A	11128	broad.mit.edu	37	10	79737257	79737257	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:79737257G>C	ENST00000372371.3	-	31	4289	c.4152C>G	c.(4150-4152)ttC>ttG	p.F1384L		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1384					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GGGGGATGTGGAATTCATTTG	0.517000													11	207					0	0	0.080935	0	0
PTPLAD1	51495	broad.mit.edu	37	15	65847227	65847227	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:65847227C>G	ENST00000261875.5	+	3	299	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	PTPLAD1_ENST00000568793.1_Missense_Mutation_p.Q20E|PTPLAD1_ENST00000569894.1_5'UTR|PTPLAD1_ENST00000566074.1_5'UTR|PTPLAD1_ENST00000565299.1_Missense_Mutation_p.Q83E|PTPLAD1_ENST00000566511.1_5'UTR|PTPLAD1_ENST00000562901.1_5'UTR|PTPLAD1_ENST00000442729.2_Missense_Mutation_p.Q45E	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	45	CS.				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTTATAGCTCAAGGACATGG	0.433000													7	254					0	0	0.038147	0	0
PRR11	55771	broad.mit.edu	37	17	57270903	57270903	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:57270903G>A	ENST00000262293.4	+	5	765	c.453G>A	c.(451-453)atG>atA	p.M151I		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	151										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CATGTCACATGAGTGGTAAAC	0.458000													7	138					0	0	0.038147	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228605	142228605	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:142228605C>G	ENST00000519067.1	-	4	1284	c.981G>C	c.(979-981)ttG>ttC	p.L327F	SLC45A4_ENST00000433583.2_Missense_Mutation_p.L320F|SLC45A4_ENST00000517878.1_Missense_Mutation_p.L378F|SLC45A4_ENST00000024061.3_Missense_Mutation_p.L327F			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	378					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TAGCTTCATTCAAGTGATTAT	0.617000													4	175					0	0	0.009096	0	0
PRPH	5630	broad.mit.edu	37	12	49690818	49690818	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:49690818G>A	ENST00000257860.4	+	4	2348	c.849G>A	c.(847-849)gcG>gcA	p.A283A	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	283	Coil 2.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						TGCAGGAGGCGGAGGAGTGGT	0.672000											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	103					0	0	0.009096	0	0
PPCS	79717	broad.mit.edu	37	1	42925418	42925418	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:42925418C>G	ENST00000372561.3	+	3	764	c.757C>G	c.(757-759)Caa>Gaa	p.Q253E	PPCS_ENST00000372556.3_3'UTR|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372562.1_Missense_Mutation_p.Q80E|PPCS_ENST00000455780.1_Missense_Mutation_p.Q80E	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	253					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTATCAGCATCAAGTGGTGGT	0.408000													6	245					0	0	0.029380	0	0
DNAH8	1769	broad.mit.edu	37	6	38950169	38950169	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:38950169C>T	ENST00000359357.3	+	84	12485	c.12231C>T	c.(12229-12231)ttC>ttT	p.F4077F	DNAH8_ENST00000441566.1_Silent_p.F4041F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTACGAATTCAATTCTGCTG	0.353000													10	277					0	0	0.080935	0	0
EFEMP2	30008	broad.mit.edu	37	11	65638808	65638808	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:65638808C>A	ENST00000307998.6	-	4	417	c.187G>T	c.(187-189)Gag>Tag	p.E63*	EFEMP2_ENST00000528176.1_Nonsense_Mutation_p.E63*	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	63	EGF-like 1; atypical.				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TTGCAGGCCTCAGGGATGGTC	0.647000													12	236					2.27111e-07	2.37553e-07	0.093190	1	0
C2orf61	285051	broad.mit.edu	37	2	47378441	47378441	+	Missense_Mutation	SNP	C	C	G	rs147631903		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:47378441C>G	ENST00000294947.2	-	3	390	c.355G>C	c.(355-357)Gac>Cac	p.D119H	CALM2_ENST00000422269.1_5'UTR|C2orf61_ENST00000445927.2_Missense_Mutation_p.D119H	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	119								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CGTGGTTTGTCTTTGAATGAG	0.473000													10	173					0	0	0.080935	0	0
SRP54-AS1	100506157	broad.mit.edu	37	14	35409175	35409175	+	RNA	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:35409175G>A	ENST00000556355.1	-	0	257				RP11-85K15.2_ENST00000555015.1_RNA																							TAAAGATCCTGAGAGAAAGAG	0.443000													29	40					0	0	0.034045	0	0
C17orf70	80233	broad.mit.edu	37	17	79517625	79517625	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:79517625C>T	ENST00000537152.1	-	3	967	c.442G>A	c.(442-444)Gag>Aag	p.E148K	C17orf70_ENST00000327787.8_Missense_Mutation_p.E299K	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	299					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			AGAAAATTCTCTGCAGCTTCT	0.582000													4	180					0	0	0.009096	0	0
KMT2E	55904	broad.mit.edu	37	7	104746007	104746007	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:104746007C>G	ENST00000334877.4	+	18	2852	c.2318C>G	c.(2317-2319)tCt>tGt	p.S773C	KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Missense_Mutation_p.S773C|KMT2E_ENST00000257745.4_Missense_Mutation_p.S773C					lysine (K)-specific methyltransferase 2E																		CAACTCAATTCTTTACCAGGT	0.398000													8	236					0	0	0.058154	0	0
AFAP1	60312	broad.mit.edu	37	4	7780519	7780519	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:7780519G>A	ENST00000420658.1	-	14	2139	c.1867C>T	c.(1867-1869)Ccc>Tcc	p.P623S	AFAP1_ENST00000360265.4_Missense_Mutation_p.P539S|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.P539S|AFAP1_ENST00000382543.3_Missense_Mutation_p.P623S	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	573	Interaction with F-actin (By similarity).					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						ACAGCCGCGGGATCCGCTTTC	0.527000													15	147					0	0	0.038395	0	0
GCN1L1	10985	broad.mit.edu	37	12	120594339	120594339	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:120594339C>G	ENST00000300648.6	-	28	3250	c.3238G>C	c.(3238-3240)Gag>Cag	p.E1080Q		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1080					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTCCTGCTCTGCAAAGGCA	0.597000													3	87					0	0	0.004672	0	0
BCO2	83875	broad.mit.edu	37	11	112050030	112050030	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:112050030C>G	ENST00000357685.5	+	2	253	c.118C>G	c.(118-120)Cag>Gag	p.Q40E	BCO2_ENST00000532593.1_Intron|BCO2_ENST00000438022.1_Missense_Mutation_p.Q6E|BCO2_ENST00000531169.1_Missense_Mutation_p.Q6E|SDHD_ENST00000532699.1_Intron|BCO2_ENST00000393032.2_Missense_Mutation_p.Q6E|BCO2_ENST00000361053.4_Missense_Mutation_p.Q40E|BCO2_ENST00000526088.1_Missense_Mutation_p.Q6E|SDHD_ENST00000532612.1_3'UTR			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	40					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						AAATACTCCTCAGAAAAAAGC	0.478000													48	38					0	0	0.048971	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130687445	130687445	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:130687445G>A	ENST00000388747.4	-	9	902	c.858C>T	c.(856-858)ttC>ttT	p.F286F	PIP5KL1_ENST00000300432.3_Silent_p.F83F|PIP5KL1_ENST00000490773.1_5'UTR	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	286	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						GGAGACGTTGGAAGGCTATCA	0.637000													10	181					0	0	0.069234	0	0
IQCE	23288	broad.mit.edu	37	7	2623917	2623917	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:2623917G>A	ENST00000402050.2	+	11	1006	c.822G>A	c.(820-822)aaG>aaA	p.K274K	IQCE_ENST00000497572.1_3'UTR|IQCE_ENST00000325979.7_Silent_p.K209K|IQCE_ENST00000404984.1_Silent_p.K223K|IQCE_ENST00000438376.2_Silent_p.K258K	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	274										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CCACCGGAAAGAAGTATGATG	0.483000													10	293					0	0	0.080935	0	0
GTF2H1	2965	broad.mit.edu	37	11	18361122	18361122	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:18361122G>A	ENST00000265963.4	+	5	685	c.525G>A	c.(523-525)cgG>cgA	p.R175R	GTF2H1_ENST00000534641.1_Silent_p.R59R|GTF2H1_ENST00000524753.4_5'UTR|GTF2H1_ENST00000453096.2_Silent_p.R175R	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	175					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CTGATGTCCGGCCCCAAACTG	0.433000								Nucleotide excision repair (NER)					4	171					0	0	0.014758	0	0
ASPM	259266	broad.mit.edu	37	1	197072981	197072981	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:197072981T>A	ENST00000367409.4	-	18	5656	c.5400A>T	c.(5398-5400)caA>caT	p.Q1800H	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1800					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTTTGACTTGCAAGAAGT	0.368000													93	146					0	0	0.048971	0	0
MALT1	10892	broad.mit.edu	37	18	56411652	56411652	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:56411652G>C	ENST00000348428.3	+	15	2094	c.1836G>C	c.(1834-1836)atG>atC	p.M612I	MALT1_ENST00000345724.3_Missense_Mutation_p.M601I|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	612					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CCAATGTCATGATCATCTATA	0.338000			T	BIRC3	MALT								6	355					0	0	0.021553	0	0
GAA	2548	broad.mit.edu	37	17	78092121	78092121	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:78092121G>C	ENST00000302262.3	+	18	2830	c.2611G>C	c.(2611-2613)Ggg>Cgg	p.G871R	GAA_ENST00000390015.3_Missense_Mutation_p.G871R	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	871					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCTGGAGCGAGGGGCCTACAC	0.677000													7	165					0	0	0.029380	0	0
PHIP	55023	broad.mit.edu	37	6	79787178	79787178	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:79787178G>A	ENST00000275034.4	-	4	343	c.176C>T	c.(175-177)aCc>aTc	p.T59I		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	59					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATTCTGGTAggtcctgggatg	0.577000													8	171					0	0	0.038147	0	0
ANKRD17	26057	broad.mit.edu	37	4	73951068	73951068	+	Missense_Mutation	SNP	C	C	T	rs139173196		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:73951068C>T	ENST00000358602.4	-	30	7173	c.7057G>A	c.(7057-7059)Gga>Aga	p.G2353R	ANKRD17_ENST00000330838.6_Missense_Mutation_p.G2102R|ANKRD17_ENST00000509867.2_Missense_Mutation_p.G2240R	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2353					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCCCAGGTCCGTACATCTGA	0.453000													18	279					0	0	0.043863	0	0
PRKCZ	5590	broad.mit.edu	37	1	2080336	2080336	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:2080336G>T	ENST00000400921.2	+	5	794	c.111G>T	c.(109-111)aaG>aaT	p.K37N	PRKCZ_ENST00000400920.1_Missense_Mutation_p.K37N|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	220	OPR.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		CATCCCGGAAGCATGACAGCA	0.562000													26	52					1.32181e-22	1.39866e-22	0.034045	1	0
PAK1IP1	55003	broad.mit.edu	37	6	10695300	10695300	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:10695300G>C	ENST00000379568.3	+	1	373	c.82G>C	c.(82-84)Gag>Cag	p.E28Q		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	28					negative regulation of signal transduction	nucleolus|plasma membrane		p.E28*(1)		kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				CGGCGACCACGAGGTGAGATA	0.622000													46	110					0	0	0.111260	0	0
PDIA4	9601	broad.mit.edu	37	7	148702240	148702240	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:148702240G>A	ENST00000286091.4	-	9	1747	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	505	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CACCTTTTTTGAAAGCAGTGA	0.602000													12	328					0	0	0.093190	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42978724	42978724	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:42978724G>A	ENST00000485511.1	+	15	1839	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	PPP2R5D_ENST00000461010.1_Missense_Mutation_p.E448K|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.E546K|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.E522K	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	554					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGTGGAGACTGAGGCTGTTCA	0.557000													8	193					0	0	0.047766	0	0
KLK9	284366	broad.mit.edu	37	19	51506440	51506440	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:51506440C>T	ENST00000376832.4	-	5	713	c.680G>A	c.(679-681)aGa>aAa	p.R227K	CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000594211.1_Missense_Mutation_p.R227K|KLK9_ENST00000250366.6_Missense_Mutation_p.R227K	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	227	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GCGCCGGGGTCTGGAGCAGGG	0.642000													96	219					0	0	0.048971	0	0
PLCD4	84812	broad.mit.edu	37	2	219496958	219496958	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:219496958G>C	ENST00000450993.2	+	10	1711	c.1372G>C	c.(1372-1374)Gaa>Caa	p.E458Q	PLCD4_ENST00000417849.1_Missense_Mutation_p.E458Q|PLCD4_ENST00000432688.1_Missense_Mutation_p.E458Q	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	458	Glu-rich.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAAGAGTCAGAATTGGCGCT	0.502000													4	17					0	0	0.009096	0	0
COPS5	10987	broad.mit.edu	37	8	67974227	67974227	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:67974227G>A	ENST00000357849.4	-	1	325	c.5C>T	c.(4-6)gCg>gTg	p.A2V	COPS5_ENST00000517736.1_Intron|COPS5_ENST00000519963.1_5'UTR	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	2					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CCCGGACGCCGCCATCGCCGA	0.557000													4	161					0	0	0.014758	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368203	18368203	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:18368203C>T	ENST00000392413.3	-	4	4106	c.3891G>A	c.(3889-3891)ccG>ccA	p.P1297P	KIAA1683_ENST00000600328.2_Silent_p.P1110P|KIAA1683_ENST00000600359.2_Silent_p.P1064P	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	0						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CCTGGCGATGCGGCTGCCTGG	0.662000													4	103					0	0	0.014758	0	0
MUC5B	727897	broad.mit.edu	37	11	1271273	1271273	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:1271273C>T	ENST00000447027.1	+	31	13230	c.13172C>T	c.(13171-13173)aCg>aTg	p.T4391M	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4388M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4388	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCGGGGACGACCTGGATC	0.662000													6	124					0	0	0.029380	0	0
JSRP1	126306	broad.mit.edu	37	19	2254199	2254199	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:2254199C>T	ENST00000300961.5	-	4	313	c.249G>A	c.(247-249)ctG>ctA	p.L83L	JSRP1_ENST00000586471.1_Silent_p.L83L	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	83						sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				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)		CTCCGGCTTTCAGCCTCTCCT	0.632000											OREG0025137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	531					0	0	0.093190	0	0
SOS1	6654	broad.mit.edu	37	2	39234270	39234270	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:39234270G>C	ENST00000426016.1	-	17	2661	c.2575C>G	c.(2575-2577)Cta>Gta	p.L859V	SOS1_ENST00000402219.2_Missense_Mutation_p.L859V|SOS1_ENST00000395038.2_Missense_Mutation_p.L859V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	859	Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AAGACTTGTAGAATCTCAATA	0.348000									Noonan syndrome				6	269					0	0	0.029380	0	0
RPL37A	6168	broad.mit.edu	37	2	217364725	217364725	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:217364725G>C	ENST00000491306.1	+	3	872	c.186G>C	c.(184-186)aaG>aaC	p.K62N	RPL37A_ENST00000441179.2_Missense_Mutation_p.K38N|RPL37A_ENST00000456586.1_Missense_Mutation_p.K38N|RPL37A_ENST00000598925.1_Missense_Mutation_p.K38N|RPL37A_ENST00000446558.1_Missense_Mutation_p.K62N|RPL37A_ENST00000600880.1_Missense_Mutation_p.K62N|RPL37A_ENST00000427280.2_Missense_Mutation_p.K38N	NM_000998.4	NP_000989.1	P61513	RL37A_HUMAN	ribosomal protein L37a	62					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	metal ion binding|protein binding|structural constituent of ribosome			NS(1)|ovary(1)	2		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCATGAAGACAGTGGCTG	0.473000													4	132					0	0	0.009096	0	0
FMO2	2327	broad.mit.edu	37	1	171178065	171178065	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:171178065C>G	ENST00000441535.1	+	9	1506	c.1389C>G	c.(1387-1389)ctC>ctG	p.L463L	RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Silent_p.L463L	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	463					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGTGAGACTCTATTTCGGAC	0.478000													14	533					0	0	0.028581	0	0
ALDOA	226	broad.mit.edu	37	16	30080707	30080707	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:30080707G>C	ENST00000566897.1	+	9	1773	c.621G>C	c.(619-621)gaG>gaC	p.E207D	ALDOA_ENST00000569545.1_Missense_Mutation_p.E207D|ALDOA_ENST00000412304.2_Missense_Mutation_p.E207D|ALDOA_ENST00000395240.3_Missense_Mutation_p.E211D|ALDOA_ENST00000564595.2_Missense_Mutation_p.E261D|ALDOA_ENST00000569798.1_Missense_Mutation_p.E207D|ALDOA_ENST00000563060.2_Missense_Mutation_p.E207D|ALDOA_ENST00000564546.1_Missense_Mutation_p.E207D|ALDOA_ENST00000338110.5_Missense_Mutation_p.E207D|ALDOA_ENST00000395248.1_Missense_Mutation_p.E261D			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	207			E -> K (in GSD12; reduces thermal stability; 3-fold decrease in catalytic efficiency mostly due to reduced substrate affinity).		actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						ATGTGACCGAGAAGGTAAATG	0.622000											OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	160					0	0	0.014758	0	0
CIRH1A	84916	broad.mit.edu	37	16	69184786	69184786	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:69184786C>T	ENST00000563094.1	+	8	1015	c.981C>T	c.(979-981)ctC>ctT	p.L327L	CIRH1A_ENST00000352319.4_Silent_p.L327L|CIRH1A_ENST00000314423.7_Silent_p.L327L			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	327						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ATGCCGCTCTCCGAAAAATCA	0.527000													9	179					0	0	0.047766	0	0
NUP98	4928	broad.mit.edu	37	11	3784171	3784171	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:3784171G>C	ENST00000324932.7	-	9	1467	c.1047C>G	c.(1045-1047)ctC>ctG	p.L349L	NUP98_ENST00000397007.4_Silent_p.L349L|NUP98_ENST00000397004.4_Silent_p.L349L|NUP98_ENST00000355260.3_Silent_p.L349L|NUP98_ENST00000359171.4_Silent_p.L349L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	349	Gly/Thr-rich.				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)		TCTGCCCAAAGAGACCTGTTC	0.443000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								6	193					0	0	0.021553	0	0
NCOA1	8648	broad.mit.edu	37	2	24928094	24928094	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:24928094C>T	ENST00000405141.1	+	13	1800	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	NCOA1_ENST00000395856.3_Silent_p.I363I|NCOA1_ENST00000288599.5_Silent_p.I363I|NCOA1_ENST00000406961.1_Silent_p.I363I|NCOA1_ENST00000407230.1_Silent_p.I212I|NCOA1_ENST00000348332.3_Silent_p.I363I|NCOA1_ENST00000538539.1_Silent_p.I363I			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	363	Interaction with STAT3.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAATTCATATCATCGACAGGT	0.378000			T	PAX3	alveolar rhadomyosarcoma								5	129					0	0	0.014758	0	0
ASH1L	55870	broad.mit.edu	37	1	155449745	155449745	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155449745C>G	ENST00000368346.3	-	3	3555	c.2916G>C	c.(2914-2916)aaG>aaC	p.K972N	ASH1L_ENST00000392403.3_Missense_Mutation_p.K972N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	972					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.K972N(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CATTGTTTCTCTTGGTAATTT	0.343000													50	101					0	0	0.048971	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			31	79					0	0	0.050027	0	0
PPM1H	57460	broad.mit.edu	37	12	63225906	63225906	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:63225906C>T	ENST00000228705.6	-	2	699	c.399G>A	c.(397-399)ctG>ctA	p.L133L		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	133							phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		AGTTCTCCTTCAGCTGCAGCC	0.532000													39	44					0	0	0.098360	0	0
TACC2	10579	broad.mit.edu	37	10	124001494	124001494	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:124001494G>C	ENST00000369005.1	+	19	8710	c.8370G>C	c.(8368-8370)gaG>gaC	p.E2790D	TACC2_ENST00000369001.1_Missense_Mutation_p.E417D|TACC2_ENST00000358010.1_Missense_Mutation_p.E936D|TACC2_ENST00000369000.1_Missense_Mutation_p.E413D|TACC2_ENST00000515273.1_Missense_Mutation_p.E2717D|TACC2_ENST00000513429.1_Missense_Mutation_p.E936D|TACC2_ENST00000515603.1_Missense_Mutation_p.E2668D|TACC2_ENST00000368999.1_Missense_Mutation_p.E880D|TACC2_ENST00000453444.2_Missense_Mutation_p.E2717D|TACC2_ENST00000360561.3_Missense_Mutation_p.E838D|TACC2_ENST00000334433.3_Missense_Mutation_p.E2790D|TACC2_ENST00000260733.3_Missense_Mutation_p.E868D|TACC2_ENST00000369004.3_Missense_Mutation_p.E850D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2790						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCGAGTATGAGAAGACCATCG	0.522000													9	184					0	0	0.058154	0	0
SLC26A8	116369	broad.mit.edu	37	6	35927554	35927554	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:35927554G>C	ENST00000490799.1	-	15	2021	c.1668C>G	c.(1666-1668)ttC>ttG	p.F556L	SLC26A8_ENST00000394602.2_Missense_Mutation_p.F451L|SLC26A8_ENST00000355574.2_Missense_Mutation_p.F556L	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	556	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGCAGCACTGGAAGATTTTCA	0.393000													4	164					0	0	0.014758	0	0
DNAH17	8632	broad.mit.edu	37	17	76459075	76459075	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:76459075C>G	ENST00000389840.5	-	57	9107	c.8983G>C	c.(8983-8985)Gag>Cag	p.E2995Q	DNAH17_ENST00000585328.1_Missense_Mutation_p.E3004Q|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGCGCCTCTCAGTAGCCAGG	0.498000													9	97					0	0	0.058154	0	0
NUP160	23279	broad.mit.edu	37	11	47810131	47810131	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:47810131C>T	ENST00000378460.2	-	30	3590	c.3544G>A	c.(3544-3546)Gat>Aat	p.D1182N	NUP160_ENST00000530326.1_Missense_Mutation_p.D1068N	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1182					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTCTCCAGATCTTCCAGTTCC	0.413000													5	100					0	0	0.014758	0	0
RPP40	10799	broad.mit.edu	37	6	4996630	4996630	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:4996630G>A	ENST00000380051.2	-	6	628	c.584C>T	c.(583-585)tCa>tTa	p.S195L	RPP40_ENST00000319533.5_Missense_Mutation_p.S172L|RPP40_ENST00000464646.1_Missense_Mutation_p.S135L	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	195					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				GGAAAAATATGACATCATTGT	0.458000													5	130					0	0	0.021553	0	0
BANK1	55024	broad.mit.edu	37	4	102993520	102993520	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:102993520A>G	ENST00000504592.1	+	19	2634	c.2216A>G	c.(2215-2217)aAt>aGt	p.N739S	BANK1_ENST00000444316.2_Missense_Mutation_p.N724S|BANK1_ENST00000322953.4_Missense_Mutation_p.N754S|BANK1_ENST00000508653.1_Missense_Mutation_p.N621S|BANK1_ENST00000428908.1_Missense_Mutation_p.N621S			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	754					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		ACTGCCCACAATGAAAATAAG	0.254000													6	215					0	0	0.021553	0	0
SLC8A2	6543	broad.mit.edu	37	19	47951487	47951487	+	Splice_Site	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:47951487C>G	ENST00000236877.6	-	4	1737	c.1340_splice	c.e4-1	p.E448_splice	SLC8A2_ENST00000542837.1_Splice_Site_p.E204_splice|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	448	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AGCGTGCCCTCGCTGCGGCGG	0.637000													5	104					0	0	0.021553	0	0
FNIP1	96459	broad.mit.edu	37	5	131007934	131007934	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:131007934C>T	ENST00000307968.7	-	13	2118	c.2119G>A	c.(2119-2121)Gat>Aat	p.D707N	FNIP1_ENST00000510461.1_Missense_Mutation_p.D735N|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.D690N	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ACAATCTTATCTGGAGGTTTT	0.448000													10	429					0	0	0.058154	0	0
ZFP1	162239	broad.mit.edu	37	16	75203689	75203689	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:75203689C>T	ENST00000393430.2	+	4	805	c.681C>T	c.(679-681)ctC>ctT	p.L227L	ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000332307.4_Silent_p.L194L|ZFP1_ENST00000570010.1_Silent_p.L227L			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						AGGCCAACCTCATCAAACATC	0.423000													25	52					0	0	0.076483	0	0
SGOL2	151246	broad.mit.edu	37	2	201437872	201437872	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:201437872G>C	ENST00000357799.4	+	7	2901	c.2803G>C	c.(2803-2805)Gaa>Caa	p.E935Q		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	935					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ACATGTCCAAGAAAGCTATAC	0.274000													9	198					0	0	0.047766	0	0
LYST	1130	broad.mit.edu	37	1	235972988	235972988	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:235972988C>G	ENST00000389794.3	-	5	1304	c.1130G>C	c.(1129-1131)aGa>aCa	p.R377T	LYST_ENST00000389793.2_Missense_Mutation_p.R377T|LYST_ENST00000536965.1_Missense_Mutation_p.R377T			Q99698	LYST_HUMAN	lysosomal trafficking regulator	377					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTCTTTTGTCTTGGTGCAAA	0.378000													10	281					0	0	0.105934	0	0
COL4A4	1286	broad.mit.edu	37	2	227973311	227973311	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:227973311G>A	ENST00000396625.3	-	12	928	c.721C>T	c.(721-723)Caa>Taa	p.Q241*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.Q241*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	241	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCTCCCATTTGCCCCTTTACT	0.418000													7	231					0	0	0.029380	0	0
ZMYND8	23613	broad.mit.edu	37	20	45905248	45905248	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:45905248C>T	ENST00000311275.7	-	11	1483	c.1230G>A	c.(1228-1230)ctG>ctA	p.L410L	ZMYND8_ENST00000458360.2_Silent_p.L405L|ZMYND8_ENST00000372023.3_Silent_p.L405L|ZMYND8_ENST00000262975.4_Silent_p.L410L|ZMYND8_ENST00000540497.1_Silent_p.L405L|ZMYND8_ENST00000446994.2_Silent_p.L347L|ZMYND8_ENST00000461685.1_Silent_p.L430L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000352431.2_Silent_p.L430L|ZMYND8_ENST00000396281.4_Silent_p.L410L|ZMYND8_ENST00000471951.2_Silent_p.L430L|ZMYND8_ENST00000355972.4_Silent_p.L410L|ZMYND8_ENST00000536340.1_Silent_p.L437L|ZMYND8_ENST00000360911.3_Silent_p.L405L			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	410							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCTTGCTCATCAGGATCTTGG	0.592000													12	185					0	0	0.105934	0	0
CCDC36	339834	broad.mit.edu	37	3	49294139	49294139	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:49294139C>G	ENST00000438782.1	+	8	1445	c.1209C>G	c.(1207-1209)agC>agG	p.S403R	CCDC36_ENST00000452691.2_Missense_Mutation_p.S403R|CCDC36_ENST00000296449.5_Missense_Mutation_p.S403R			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	403										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TTTCAACCAGCATTAAGAATG	0.448000													3	151					0	0	0.004672	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375318	8375318	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:8375318G>A	ENST00000538603.1	-	7	1053	c.495C>T	c.(493-495)ctC>ctT	p.L165L	FAM90A1_ENST00000307435.6_Silent_p.L165L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	165							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AGCGATCAGAGAGGACAGGGT	0.547000													6	158					0	0	0.021553	0	0
USP1	7398	broad.mit.edu	37	1	62908868	62908868	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:62908868G>A	ENST00000339950.4	+	5	1250	c.435G>A	c.(433-435)ttG>ttA	p.L145L	USP1_ENST00000371146.1_Silent_p.L145L	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	145					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GTTATGAATTGATATGCAGTT	0.358000													7	201					0	0	0.047766	0	0
BRD4	23476	broad.mit.edu	37	19	15375245	15375245	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:15375245G>C	ENST00000263377.2	-	6	1403	c.1182C>G	c.(1180-1182)atC>atG	p.I394M	BRD4_ENST00000360016.5_Missense_Mutation_p.I394M|BRD4_ENST00000371835.4_Missense_Mutation_p.I394M	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	394	Bromo 2.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGGGGTGCTTGATGATGTCAC	0.567000			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	351					0	0	0.020292	0	0
PROX1	5629	broad.mit.edu	37	1	214171409	214171409	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:214171409T>C	ENST00000366958.4	+	2	2139	c.1531T>C	c.(1531-1533)Tct>Cct	p.S511P	PROX1_ENST00000435016.1_Missense_Mutation_p.S511P|PROX1_ENST00000498508.2_Missense_Mutation_p.S511P|PROX1_ENST00000261454.4_Missense_Mutation_p.S511P	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	511					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGACAGAGCCTCTCCTGAATC	0.562000													5	211					0	0	0.014758	0	0
RPAP2	79871	broad.mit.edu	37	1	92789250	92789250	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:92789250C>A	ENST00000370343.3	+	8	882	c.773C>A	c.(772-774)tCc>tAc	p.S258Y	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	258						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AAAGCTAACTCCAAACACAAA	0.393000													4	167					0.00024832	0.000256203	0.009096	1	0
PPFIA3	8541	broad.mit.edu	37	19	49636556	49636556	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:49636556G>C	ENST00000334186.4	+	9	1438	c.1089G>C	c.(1087-1089)caG>caC	p.Q363H	PPFIA3_ENST00000602351.1_Missense_Mutation_p.Q363H	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	363						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AGCTGCAGCAGACGCTGCAGA	0.682000													6	118					0	0	0.029380	0	0
CHRNA2	1135	broad.mit.edu	37	8	27327430	27327430	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:27327430C>T	ENST00000407991.1	-	3	750	c.142G>A	c.(142-144)Gca>Aca	p.A48T	CHRNA2_ENST00000520933.2_Missense_Mutation_p.A48T|CHRNA2_ENST00000240132.2_Missense_Mutation_p.A48T	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	48						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	TGCGGCAATGCCGTGGGACTG	0.637000													4	170					0	0	0.009096	0	0
GLRB	2743	broad.mit.edu	37	4	158073943	158073943	+	Silent	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:158073943G>T	ENST00000264428.4	+	9	1248	c.978G>T	c.(976-978)gtG>gtT	p.V326V	GLRB_ENST00000509282.1_Silent_p.V326V|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	326					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTTCCTATGTGAAGGCTCTTG	0.488000													8	209					0.000157383	0.000162749	0.038147	1	0
HAVCR2	84868	broad.mit.edu	37	5	156522384	156522384	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:156522384G>A	ENST00000307851.4	-	5	1339	c.609C>T	c.(607-609)atC>atT	p.I203I	HAVCR2_ENST00000522593.1_Silent_p.I175I	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	203						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCCGATGTAGATGCCTATTC	0.453000													5	226					0	0	0.029380	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033951	52033951	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:52033951G>C	ENST00000346477.3	-	3	758	c.690C>G	c.(688-690)atC>atG	p.I230M	SIGLEC6_ENST00000425629.3_Missense_Mutation_p.I230M|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.I230M|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.I194M|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.I219M|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.I230M	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	230	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CATTGAGCTGGATGGTTCTCT	0.637000													9	272					0	0	0.047766	0	0
ACACB	32	broad.mit.edu	37	12	109647006	109647006	+	Missense_Mutation	SNP	C	C	T	rs146548721		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:109647006C>T	ENST00000338432.7	+	21	3216	c.3097C>T	c.(3097-3099)Cgg>Tgg	p.R1033W	ACACB_ENST00000377848.3_Missense_Mutation_p.R1033W|ACACB_ENST00000377854.5_Missense_Mutation_p.R1033W			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1033					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GATGACCCTCCGGCACCCGTC	0.662000													8	24					0	0	0.058154	0	0
TPO	7173	broad.mit.edu	37	2	1497617	1497617	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:1497617G>A	ENST00000345913.4	+	11	1903	c.1812G>A	c.(1810-1812)gaG>gaA	p.E604E	TPO_ENST00000349624.3_Silent_p.E431E|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Silent_p.E604E|TPO_ENST00000329066.4_Silent_p.E604E|TPO_ENST00000346956.3_Silent_p.E604E|TPO_ENST00000382198.1_Silent_p.E431E|TPO_ENST00000382201.3_Silent_p.E547E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	604					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCGCCTGGAGACCCCCGCTG	0.587000													28	35					0	0	0.108266	0	0
RAI14	26064	broad.mit.edu	37	5	34814701	34814701	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:34814701C>T	ENST00000265109.3	+	12	1153	c.866C>T	c.(865-867)tCt>tTt	p.S289F	RAI14_ENST00000397449.1_Missense_Mutation_p.S282F|RAI14_ENST00000428746.2_Missense_Mutation_p.S289F|RAI14_ENST00000512629.1_Missense_Mutation_p.S260F|RAI14_ENST00000506376.1_Missense_Mutation_p.S281F|RAI14_ENST00000515799.1_Missense_Mutation_p.S292F|RAI14_ENST00000503673.1_Missense_Mutation_p.S289F	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	289						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGTGATGTCTCTTCCCCAAGA	0.363000													7	197					0	0	0.029380	0	0
ZNF493	284443	broad.mit.edu	37	19	21606544	21606544	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:21606544C>T	ENST00000392288.2	+	4	1192	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S	ZNF493_ENST00000355504.4_Silent_p.S233S|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCCTCACACCTTA	0.358000													4	196					0	0	0.009096	0	0
ATP1A4	480	broad.mit.edu	37	1	160147443	160147443	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:160147443G>A	ENST00000368081.4	+	18	3196	c.2725G>A	c.(2725-2727)Gga>Aga	p.G909R	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Missense_Mutation_p.G45R	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	909					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGACAGCTACGGACAGCAGTG	0.488000													41	95					0	0	0.039052	0	0
SART3	9733	broad.mit.edu	37	12	108939002	108939002	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:108939002G>C	ENST00000228284.3	-	4	876	c.642C>G	c.(640-642)ctC>ctG	p.L214L	SART3_ENST00000431469.2_Silent_p.L214L	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	214					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CAACAGACGAGAGAGCCCTTT	0.507000									Porokeratosis				145	120					0	0	0.048971	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914871	39914871	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:39914871C>T	ENST00000425673.1	+	17	3336	c.3011C>T	c.(3010-3012)tCa>tTa	p.S1004L	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S974L|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.S1033L			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1033					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCACAGTTTCAGTCACCACC	0.547000													10	292					0	0	0.069234	0	0
SCAMP3	10067	broad.mit.edu	37	1	155230165	155230165	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155230165C>T	ENST00000355379.3	-	3	544	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Missense_Mutation_p.R115Q	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	115					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCGCTCCCTTCGGTCCAACTC	0.582000													4	181					0	0	0.009096	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033799	37033799	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:37033799G>A	ENST00000322716.5	-	1	996	c.770C>T	c.(769-771)tCa>tTa	p.S257L		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	257						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GACGAGTCCTGAGTTCTCACC	0.473000													13	302					0	0	0.105934	0	0
XPO4	64328	broad.mit.edu	37	13	21429888	21429888	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:21429888G>A	ENST00000400602.2	-	4	369	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	XPO4_ENST00000490513.1_5'UTR|XPO4_ENST00000255305.6_Missense_Mutation_p.R112W	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	112					protein transport	cytoplasm|nucleus	protein binding	p.R85W(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ATCTGTTCCCGAACATACTTT	0.328000													9	206					0	0	0.069234	0	0
IFI16	3428	broad.mit.edu	37	1	159002440	159002440	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:159002440C>G	ENST00000295809.7	+	7	1543	c.1288C>G	c.(1288-1290)Cag>Gag	p.Q430E	IFI16_ENST00000340979.6_Missense_Mutation_p.Q430E|IFI16_ENST00000368131.4_Missense_Mutation_p.Q430E|IFI16_ENST00000359709.3_Missense_Mutation_p.Q374E|IFI16_ENST00000448393.2_Missense_Mutation_p.Q430E|IFI16_ENST00000430894.2_Missense_Mutation_p.Q378E|IFI16_ENST00000368132.3_Missense_Mutation_p.Q430E			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	430					cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCGGACTCCTCAGATGCCACC	0.512000													11	188					0	0	0.080935	0	0
ZNF91	7644	broad.mit.edu	37	19	23544861	23544861	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:23544861G>A	ENST00000300619.7	-	4	1125	c.920C>T	c.(919-921)tCa>tTa	p.S307L	ZNF91_ENST00000397082.2_Missense_Mutation_p.S275L|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	307						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGCAAGGGTTGAAGAATGGCT	0.403000													10	296					0	0	0.069234	0	0
ASH1L	55870	broad.mit.edu	37	1	155449680	155449680	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155449680C>G	ENST00000368346.3	-	3	3620	c.2981G>C	c.(2980-2982)aGa>aCa	p.R994T	ASH1L_ENST00000392403.3_Missense_Mutation_p.R994T			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	994					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAGTTTCTTTCTCTTTAAAGT	0.323000													23	65					0	0	0.062417	0	0
TAP1	6890	broad.mit.edu	37	6	32818145	32818145	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:32818145G>C	ENST00000354258.4	-	5	1541	c.1380C>G	c.(1378-1380)ctC>ctG	p.L460L	TAP1_ENST00000425148.2_Silent_p.L199L|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	460	ABC transmembrane type-1.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						CCTTCTGGTTGAGTGTCTTTA	0.512000													3	123					0	0	0.009096	0	0
DOCK4	9732	broad.mit.edu	37	7	111368537	111368537	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:111368537C>G	ENST00000428084.1	-	53	5993	c.5721G>C	c.(5719-5721)aaG>aaC	p.K1907N	DOCK4_ENST00000494651.2_Missense_Mutation_p.K781N|DOCK4_ENST00000437633.1_Missense_Mutation_p.K1898N			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1898	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGGGCGGAGTCTTGCTCTCCT	0.692000													4	71					0	0	0.009096	0	0
CLCN6	1185	broad.mit.edu	37	1	11896103	11896103	+	Silent	SNP	C	C	T	rs7412854		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:11896103C>T	ENST00000346436.6	+	18	1925	c.1873C>T	c.(1873-1875)Ctg>Ttg	p.L625L	CLCN6_ENST00000376496.3_Silent_p.L625L|CLCN6_ENST00000376487.3_Silent_p.L603L|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	625	CBS 1.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGAGCATCCTGCGCACCAC	0.592000													3	53					0	0	0.004672	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													7	20					0	0	0.029380	0	0
CCKBR	887	broad.mit.edu	37	11	6291978	6291978	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:6291978C>T	ENST00000525462.1	+	4	759	c.756C>T	c.(754-756)gaC>gaT	p.D252D	CCKBR_ENST00000532715.1_Silent_p.D168D|CCKBR_ENST00000334619.2_Silent_p.D252D			P32239	GASR_HUMAN	cholecystokinin B receptor	210					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.D252D(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTCGCTTTGACGGCGACAGTG	0.602000													61	79					0	0	0.048971	0	0
DGKI	9162	broad.mit.edu	37	7	137363312	137363312	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:137363312G>C	ENST00000424189.2	-	3	826	c.597C>G	c.(595-597)gtC>gtG	p.V199V	DGKI_ENST00000288490.5_Silent_p.V199V|DGKI_ENST00000446122.1_Silent_p.V199V|DGKI_ENST00000453654.1_5'UTR			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	199					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTGCAAATCTGACTTGGCAGT	0.532000													23	473					0	0	0.091800	0	0
MEFV	4210	broad.mit.edu	37	16	3293508	3293508	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:3293508C>G	ENST00000219596.1	-	10	2018	c.1979G>C	c.(1978-1980)gGa>gCa	p.G660A	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.G449A|MEFV_ENST00000339854.4_Missense_Mutation_p.G480A	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	660	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TGTCTTGTCTCCAACCTCCAC	0.542000													5	178					0	0	0.029380	0	0
CRX	1406	broad.mit.edu	37	19	48342644	48342644	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:48342644C>G	ENST00000221996.7	+	4	526	c.320C>G	c.(319-321)cCc>cGc	p.P107R	CRX_ENST00000539067.1_Missense_Mutation_p.P107R|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	107					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		cagcagcagcCCCCAGGGGGC	0.627000													11	268					0	0	0.093190	0	0
HFM1	164045	broad.mit.edu	37	1	91841220	91841220	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:91841220C>G	ENST00000370425.3	-	12	1558	c.1460G>C	c.(1459-1461)aGa>aCa	p.R487T	HFM1_ENST00000370424.3_Missense_Mutation_p.R166T|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	487							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTCACTGGTCTATGGCTCTC	0.378000													8	286					0	0	0.069234	0	0
DST	667	broad.mit.edu	37	6	56513371	56513371	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:56513371C>G	ENST00000370754.5	-	12	1451	c.1452G>C	c.(1450-1452)ctG>ctC	p.L484L	DST_ENST00000361203.3_Silent_p.L306L|DST_ENST00000312431.6_Silent_p.L306L|DST_ENST00000370769.4_Silent_p.L306L|DST_ENST00000421834.2_Silent_p.L306L|DST_ENST00000370788.2_Silent_p.L306L			Q03001	DYST_HUMAN	dystonin	306					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CACTAACCTTCAGTTCTACAG	0.333000													3	20					0	0	0.004672	0	0
CDC5L	988	broad.mit.edu	37	6	44371637	44371637	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:44371637A>T	ENST00000371477.3	+	6	930	c.631A>T	c.(631-633)Aat>Tat	p.N211Y		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	211					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGTTGATTATAATGCCGAAAT	0.393000													64	64					0	0	0.048971	0	0
FLG2	388698	broad.mit.edu	37	1	152323783	152323783	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:152323783G>C	ENST00000388718.5	-	3	6551	c.6479C>G	c.(6478-6480)tCt>tGt	p.S2160C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2160							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATGACCAGACTGGCCATG	0.512000													8	571					0	0	0.047766	0	0
KRT24	192666	broad.mit.edu	37	17	38855880	38855880	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:38855880C>T	ENST00000264651.2	-	6	1233	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	393	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TAGCCAGCTTCTGTGTCAGCC	0.438000													14	242					0	0	0.020292	0	0
KRT13	3860	broad.mit.edu	37	17	39659319	39659319	+	Missense_Mutation	SNP	C	C	T	rs150947773	byFrequency	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:39659319C>T	ENST00000246635.3	-	4	813	c.767G>A	c.(766-768)gGc>gAc	p.G256D	KRT13_ENST00000336861.3_Missense_Mutation_p.G256D|KRT13_ENST00000587544.1_Missense_Mutation_p.G256D	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	256	Linker 12.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GTTGACCTGGCCGACCACCTG	0.587000													8	741					0	0	0.058154	0	0
SOGA2	23255	broad.mit.edu	37	18	8825033	8825033	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:8825033G>C	ENST00000359865.3	+	15	3667	c.3525G>C	c.(3523-3525)caG>caC	p.Q1175H	SOGA2_ENST00000306285.7_Missense_Mutation_p.Q500H|SOGA2_ENST00000517570.1_Missense_Mutation_p.Q1134H|SOGA2_ENST00000306329.11_Missense_Mutation_p.Q1494H|SOGA2_ENST00000400050.3_Missense_Mutation_p.Q1134H|SOGA2_ENST00000518815.1_Missense_Mutation_p.Q500H	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1485																	AGCACTGCCAGAAGCAGCCAC	0.647000													4	135					0	0	0.021553	0	0
SYT16	83851	broad.mit.edu	37	14	62547795	62547795	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:62547795G>A	ENST00000430451.2	+	4	1434	c.1237G>A	c.(1237-1239)Gtc>Atc	p.V413I	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	413	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GCCCAACCCCGTCTTCAGGGA	0.582000													22	28					0	0	0.062417	0	0
ISLR2	57611	broad.mit.edu	37	15	74425126	74425126	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:74425126T>G	ENST00000361742.3	+	4	800	c.31T>G	c.(31-33)Tgg>Ggg	p.W11G	ISLR2_ENST00000419208.1_Missense_Mutation_p.W11G|ISLR2_ENST00000435464.1_Missense_Mutation_p.W11G|ISLR2_ENST00000453268.2_Missense_Mutation_p.W11G|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Missense_Mutation_p.W11G|ISLR2_ENST00000445793.1_Missense_Mutation_p.W11G|ISLR2_ENST00000565159.1_Missense_Mutation_p.W11G	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	11					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GTGGTTGGTCTGGGCGCTTCT	0.607000													40	58					0	0	0.042209	0	0
RRP8	23378	broad.mit.edu	37	11	6621416	6621416	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:6621416G>C	ENST00000254605.6	-	7	1448	c.1331C>G	c.(1330-1332)tCa>tGa	p.S444*	RRP8_ENST00000534343.1_Nonsense_Mutation_p.S128*	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	444					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CTGCAGGCCTGAAAGCTGAGC	0.537000													6	128					0	0	0.029380	0	0
QTRTD1	79691	broad.mit.edu	37	3	113798772	113798772	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:113798772C>T	ENST00000281273.4	+	8	1023	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	QTRTD1_ENST00000493014.1_Missense_Mutation_p.R150W|QTRTD1_ENST00000485050.1_Missense_Mutation_p.R268W|QTRTD1_ENST00000479882.1_Missense_Mutation_p.R133W	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	256					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TGGTGTTAGTCGGCCAGATGA	0.428000													9	433					0	0	0.080935	0	0
CCSAP	126731	broad.mit.edu	37	1	229462743	229462743	+	Silent	SNP	C	C	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:229462743C>A	ENST00000284617.2	-	3	502	c.378G>T	c.(376-378)gtG>gtT	p.V126V	CCSAP_ENST00000366687.1_Silent_p.V126V|CCSAP_ENST00000366686.1_Silent_p.V12V|CCSAP_ENST00000483092.1_5'UTR	NM_145257.3	NP_660300.3			centriole, cilia and spindle-associated protein																		CTACATCTTTCACTGGCAGTG	0.328000													52	118					6.08268e-21	6.42139e-21	0.048971	1	0
TCHH	7062	broad.mit.edu	37	1	152083788	152083788	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:152083788C>G	ENST00000368804.1	-	2	1904	c.1905G>C	c.(1903-1905)aaG>aaC	p.K635N		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	635	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCCTCGCTCTTCAGCAGCT	0.672000													5	157					0	0	0.029380	0	0
OR5H6	79295	broad.mit.edu	37	3	97983460	97983460	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:97983460C>G	ENST00000383696.2	+	1	373	c.332C>G	c.(331-333)tCt>tGt	p.S111C	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATATCTCTCTCTGAATGCATG	0.403000													57	150					0	0	0.048971	0	0
RFWD3	55159	broad.mit.edu	37	16	74660297	74660297	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:74660297C>T	ENST00000361070.4	-	12	2222	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	RFWD3_ENST00000571750.1_Missense_Mutation_p.E709K	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	709					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CCATCATTCTCTGGGCTTTGG	0.423000													12	387					0	0	0.024245	0	0
ATP8B1	5205	broad.mit.edu	37	18	55398973	55398973	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:55398973G>A	ENST00000536015.1	-	2	186	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	ATP8B1_ENST00000283684.4_Missense_Mutation_p.P23S|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	23					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TCACTGTAGGGAACCACTTCG	0.463000													13	735					0	0	0.105934	0	0
COL7A1	1294	broad.mit.edu	37	3	48624640	48624640	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:48624640G>A	ENST00000328333.8	-	23	3229	c.3122C>T	c.(3121-3123)tCt>tTt	p.S1041F	COL7A1_ENST00000454817.1_Missense_Mutation_p.S1041F	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1041	Fibronectin type-III 9.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGTGTGACAGATGCCTCAGG	0.597000													3	69					0	0	0.009096	0	0
EIF3G	8666	broad.mit.edu	37	19	10227615	10227615	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:10227615C>T	ENST00000253108.4	-	7	498	c.456G>A	c.(454-456)caG>caA	p.Q152Q		NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3, subunit G	152						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			ACACGATCTTCTGGCCCTTGA	0.647000													11	294					0	0	0.080935	0	0
ZNF623	9831	broad.mit.edu	37	8	144733541	144733541	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:144733541C>A	ENST00000501748.2	+	1	1588	c.1499C>A	c.(1498-1500)aCa>aAa	p.T500K	ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K|ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACTCAACTACAAACGTTAAA	0.413000													5	254					0.000602214	0.000618527	0.014758	1	0
ASH1L	55870	broad.mit.edu	37	1	155448995	155448995	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155448995C>G	ENST00000368346.3	-	3	4305	c.3666G>C	c.(3664-3666)aaG>aaC	p.K1222N	ASH1L_ENST00000392403.3_Missense_Mutation_p.K1222N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1222					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AATGCCTCCTCTTTTTTTGCC	0.413000													85	206					0	0	0.048971	0	0
TCTE1	202500	broad.mit.edu	37	6	44254175	44254175	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:44254175C>G	ENST00000371505.4	-	3	494	c.372G>C	c.(370-372)ctG>ctC	p.L124L	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	124										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACTGTCTATCAGGTTGGCGG	0.592000													10	311					0	0	0.093190	0	0
LYVE1	10894	broad.mit.edu	37	11	10585492	10585492	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:10585492G>A	ENST00000256178.3	-	3	550	c.392C>T	c.(391-393)tCa>tTa	p.S131L	MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000529598.1_Intron|LYVE1_ENST00000531706.1_5'UTR	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	131					anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		CTCACCAGATGAGTTGTAACA	0.507000													5	83					0	0	0.014758	0	0
PLA2G7	7941	broad.mit.edu	37	6	46673033	46673033	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:46673033G>A	ENST00000274793.7	-	11	1242	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	PLA2G7_ENST00000537365.1_Missense_Mutation_p.S349L	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	349					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			CTGGTGGACTGAACCCCTAAA	0.333000													4	70					0	0	0.009096	0	0
TNFSF4	7292	broad.mit.edu	37	1	173155684	173155684	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:173155684G>C	ENST00000281834.3	-	3	659	c.523C>G	c.(523-525)Caa>Gaa	p.Q175E	TNFSF4_ENST00000367718.1_Missense_Mutation_p.Q125E	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	175					acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CCAGGATTTTGATGGATAAGA	0.468000													4	117					0	0	0.009096	0	0
LPP	4026	broad.mit.edu	37	3	188123915	188123915	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:188123915C>T	ENST00000312675.4	+	3	253	c.7C>T	c.(7-9)Cac>Tac	p.H3Y	LPP_ENST00000543006.1_Missense_Mutation_p.H3Y|LPP_ENST00000448637.1_Missense_Mutation_p.H3Y	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	3					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		AACAATGTCTCACCCATCTTG	0.468000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								8	707					0	0	0.047766	0	0
CSAD	51380	broad.mit.edu	37	12	53573578	53573578	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:53573578C>T	ENST00000267085.4	-	2	248	c.15G>A	c.(13-15)ctG>ctA	p.L5L	CSAD_ENST00000444623.1_Intron|CSAD_ENST00000542115.1_Intron|CSAD_ENST00000453446.2_5'UTR|CSAD_ENST00000379843.3_5'UTR|CSAD_ENST00000379846.1_Intron	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	0					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	ATGAGGACTTCAGTGGAATTG	0.388000													9	409					0	0	0.080935	0	0
GSAP	54103	broad.mit.edu	37	7	77006225	77006225	+	Splice_Site	SNP	C	C	G	rs10268488		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:77006225C>G	ENST00000257626.7	-	10	760		c.e10-1			NM_017439.3	NP_059135.2			gamma-secretase activating protein																		TCCTTGATTTCTAAAAGAGAA	0.308000													7	136					0	0	0.038147	0	0
NAT8	9027	broad.mit.edu	37	2	73868552	73868552	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:73868552G>A	ENST00000272425.3	-	2	353	c.204C>T	c.(202-204)atC>atT	p.I68I		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	68	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GGAAGAGGCTGATGCTGAACA	0.537000													10	224					0	0	0.058154	0	0
SALL3	27164	broad.mit.edu	37	18	76753093	76753093	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:76753093G>A	ENST00000536229.3	+	1	1412	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	SALL3_ENST00000537592.2_Missense_Mutation_p.A368T|SALL3_ENST00000575389.2_Missense_Mutation_p.A368T			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	368				R -> C (in Ref. 2; CAB65124).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCAGACTTCCGCCAGCGGCGT	0.716000													4	53					0	0	0.014758	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26251947	26251947	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:26251947G>C	ENST00000356350.2	+	1	69	c.69G>C	c.(67-69)caG>caC	p.Q23H		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	23					nucleosome assembly	nucleosome|nucleus	DNA binding	p.Q23H(1)|p.Q23Q(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CCAAGGCGCAGAAGAAGGATG	0.552000													13	233					0	0	0.020292	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90500184	90500184	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:90500184C>T	ENST00000325643.5	+	4	848	c.782C>T	c.(781-783)tCc>tTc	p.S261F		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CCACCCGACTCCAGCCTGGCT	0.607000													9	141					0	0	0.058154	0	0
EDEM1	9695	broad.mit.edu	37	3	5243458	5243458	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:5243458C>T	ENST00000256497.4	+	4	840	c.707C>T	c.(706-708)tCt>tTt	p.S236F	EDEM1_ENST00000445686.1_Missense_Mutation_p.S41F	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	236					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.S236F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AGCCTCCTTTCTGCTCACAGA	0.408000													85	144					0	0	0.048971	0	0
ZNF563	147837	broad.mit.edu	37	19	12430300	12430300	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:12430300G>C	ENST00000293725.5	-	4	744	c.539C>G	c.(538-540)tCt>tGt	p.S180C	ZNF563_ENST00000595977.1_Missense_Mutation_p.S180C	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTTTCTACGAGAACTGAAGGT	0.433000													8	359					0	0	0.047766	0	0
SNX25	83891	broad.mit.edu	37	4	186272652	186272652	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:186272652G>C	ENST00000504273.1	+	14	2157	c.1863G>C	c.(1861-1863)ttG>ttC	p.L621F	SNX25_ENST00000512853.1_Intron|SNX25_ENST00000264694.8_Missense_Mutation_p.L621F			Q9H3E2	SNX25_HUMAN	sorting nexin 25	621	PX.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		ATGCCTTCTTGAGCCCTTCTC	0.418000													18	274					0	0	0.043863	0	0
PDE10A	10846	broad.mit.edu	37	6	165792732	165792732	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:165792732C>T	ENST00000366882.1	-	19	2060	c.1906G>A	c.(1906-1908)Gaa>Aaa	p.E636K	PDE10A_ENST00000354448.4_Missense_Mutation_p.E636K|PDE10A_ENST00000539869.2_Missense_Mutation_p.E646K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	636					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TACATCTCTTCCAACTGCTTC	0.398000													4	193					0	0	0.009096	0	0
PLOD2	5352	broad.mit.edu	37	3	145803008	145803008	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:145803008C>T	ENST00000282903.5	-	11	1357	c.1180G>A	c.(1180-1182)Gat>Aat	p.D394N	PLOD2_ENST00000461497.1_Missense_Mutation_p.D54N|PLOD2_ENST00000360060.3_Missense_Mutation_p.D394N|PLOD2_ENST00000494950.1_Missense_Mutation_p.D339N|RP11-274H2.2_ENST00000480247.1_RNA	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	394					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	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-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	AAAACAACATCTGCATCCACA	0.284000													28	95					0	0	0.054565	0	0
WDR66	144406	broad.mit.edu	37	12	122359293	122359293	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:122359293C>G	ENST00000288912.4	+	2	936	c.82C>G	c.(82-84)Cca>Gca	p.P28A	WDR66_ENST00000397454.2_Missense_Mutation_p.P28A|RP11-87C12.2_ENST00000544911.1_3'UTR	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	28	Glu-rich.						calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GGAACCTAATCCAAATTATAA	0.443000													3	78					0	0	0.004672	0	0
RAF1	5894	broad.mit.edu	37	3	12660106	12660106	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:12660106G>C	ENST00000251849.4	-	2	554	c.115C>G	c.(115-117)Cag>Gag	p.Q39E	RAF1_ENST00000542177.1_De_novo_Start_InFrame|RAF1_ENST00000442415.2_Missense_Mutation_p.Q39E	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	39					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	GCCCGGCGCTGATAGCCAAAC	0.473000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				13	201					0	0	0.093190	0	0
ATAD2	29028	broad.mit.edu	37	8	124358863	124358863	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:124358863C>G	ENST00000287394.5	-	17	2447	c.2340G>C	c.(2338-2340)ttG>ttC	p.L780F	ATAD2_ENST00000521903.1_Missense_Mutation_p.L98F	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	780					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TATACCTATTCAAATGAAGAA	0.279000													3	91					0	0	0.004672	0	0
POLD4	57804	broad.mit.edu	37	11	67120197	67120197	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:67120197C>T	ENST00000312419.3	-	3	410	c.264G>A	c.(262-264)ctG>ctA	p.L88L	POLD4_ENST00000539074.1_Intron|AP003419.11_ENST00000543494.1_RNA|POLD4_ENST00000529704.1_5'UTR	NM_021173.4	NP_066996.3	Q9HCU8	DPOD4_HUMAN	polymerase (DNA-directed), delta 4, accessory subunit	88					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			GGTGGGTCTTCAGCACCTGCC	0.662000													10	101					0	0	0.058154	0	0
PDLIM2	64236	broad.mit.edu	37	8	22438988	22438988	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:22438988G>C	ENST00000265810.4	+	2	305	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	PDLIM2_ENST00000397761.2_Missense_Mutation_p.E64Q|PDLIM2_ENST00000308354.7_Missense_Mutation_p.E314Q|PDLIM2_ENST00000409417.1_Missense_Mutation_p.E64Q|PDLIM2_ENST00000409141.1_Missense_Mutation_p.E64Q|PDLIM2_ENST00000397760.4_Missense_Mutation_p.E64Q|PDLIM2_ENST00000339162.7_Missense_Mutation_p.E64Q	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	64	PDZ.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GCTGCATGCCGAGGCCCAGAG	0.682000													3	60					0	0	0.009096	0	0
CTNNA1	1495	broad.mit.edu	37	5	138118956	138118956	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:138118956G>A	ENST00000302763.7	+	3	286	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	CTNNA1_ENST00000518825.1_Missense_Mutation_p.E66K|CTNNA1_ENST00000355078.5_Intron	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	66	Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCATCTGTTGAACAAGCAAC	0.433000													7	197					0	0	0.029380	0	0
EPHB3	2049	broad.mit.edu	37	3	184294725	184294725	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:184294725G>A	ENST00000330394.2	+	5	1560	c.1108G>A	c.(1108-1110)Gac>Aac	p.D370N	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	370	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGGCCGGGATGACCTCCTGTA	0.597000													24	412					0	0	0.099896	0	0
ASH1L	55870	broad.mit.edu	37	1	155449774	155449774	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155449774C>G	ENST00000368346.3	-	3	3526	c.2887G>C	c.(2887-2889)Gag>Cag	p.E963Q	ASH1L_ENST00000392403.3_Missense_Mutation_p.E963Q			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	963					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGTTCCATCTCAAGGTCACTC	0.353000													76	150					0	0	0.048971	0	0
HRC	3270	broad.mit.edu	37	19	49658238	49658238	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:49658238G>C	ENST00000252825.4	-	1	443	c.257C>G	c.(256-258)cCa>cGa	p.P86R	HRC_ENST00000595625.1_Missense_Mutation_p.P86R	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	86					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TTCACGGTCTGGGTGGCTCCA	0.537000													13	344					0	0	0.093190	0	0
CDHR5	53841	broad.mit.edu	37	11	621851	621851	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:621851G>A	ENST00000358353.3	-	5	688	c.366C>T	c.(364-366)ccC>ccT	p.P122P	CDHR5_ENST00000397542.2_Silent_p.P122P|CDHR5_ENST00000349570.7_Silent_p.P122P			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	122	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P122P(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						AGGGGAATTCGGGGGCATTGT	0.637000													8	98					0	0	0.038147	0	0
ASH1L	55870	broad.mit.edu	37	1	155327111	155327111	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155327111C>T	ENST00000368346.3	-	15	7705	c.7066G>A	c.(7066-7068)Gaa>Aaa	p.E2356K	ASH1L_ENST00000392403.3_Missense_Mutation_p.E2351K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2356					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTTACCTTTCACGATTGGAC	0.363000													6	159					0	0	0.029380	0	0
DSP	1832	broad.mit.edu	37	6	7569567	7569567	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:7569567C>G	ENST00000379802.3	+	12	1909	c.1568C>G	c.(1567-1569)tCt>tGt	p.S523C	DSP_ENST00000418664.2_Missense_Mutation_p.S523C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	523	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGGACCTCTCTTGCAAGTAA	0.572000													6	173					0	0	0.029380	0	0
HOXD10	3236	broad.mit.edu	37	2	176983913	176983913	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:176983913G>C	ENST00000249501.4	+	2	1232	c.977G>C	c.(976-978)cGa>cCa	p.R326P	HOXD10_ENST00000490088.2_3'UTR	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	326						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AAGATGAGCCGAGAGAACCGG	0.572000													5	101					0	0	0.014758	0	0
DNMT1	1786	broad.mit.edu	37	19	10265371	10265371	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:10265371C>G	ENST00000340748.4	-	20	1910	c.1675G>C	c.(1675-1677)Gag>Cag	p.E559Q	DNMT1_ENST00000359526.4_Missense_Mutation_p.E575Q|DNMT1_ENST00000540357.1_Missense_Mutation_p.E559Q			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	559	Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TCCACCTGCTCCACCACAAAC	0.582000													4	128					0	0	0.014758	0	0
C11orf42	160298	broad.mit.edu	37	11	6231403	6231403	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:6231403G>C	ENST00000316375.2	+	2	446	c.396G>C	c.(394-396)aaG>aaC	p.K132N		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	132								p.K132delK(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTGCGCAAGAAGGTTGCCT	0.552000													6	210					0	0	0.021553	0	0
TYRO3	7301	broad.mit.edu	37	15	41864735	41864735	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:41864735C>T	ENST00000263798.3	+	15	2072	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L	TYRO3_ENST00000559066.1_Silent_p.L571L	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	616	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCTTCCTGCTCGCCTCCCGGA	0.617000													4	83					0	0	0.009096	0	0
CDH9	1007	broad.mit.edu	37	5	26890572	26890572	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:26890572G>A	ENST00000231021.4	-	8	1527	c.1355C>T	c.(1354-1356)cCt>cTt	p.P452L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	452	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTTATGCCAAGGAGATGATTC	0.398000													10	225					0	0	0.080935	0	0
CPXM2	119587	broad.mit.edu	37	10	125516751	125516751	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:125516751G>A	ENST00000241305.3	-	12	2049	c.1895C>T	c.(1894-1896)tCt>tTt	p.S632F	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	632					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CACGATCAGAGATTCCCGGTT	0.537000													7	198					0	0	0.038147	0	0
DNAH7	56171	broad.mit.edu	37	2	196801458	196801458	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:196801458G>T	ENST00000312428.6	-	20	3237	c.3137C>A	c.(3136-3138)tCt>tAt	p.S1046Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1046	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAGTTCATTAGATTTTTTCAG	0.299000													4	103					0.00909568	0.00930008	0.009096	1	0
TCHH	7062	broad.mit.edu	37	1	152083217	152083217	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:152083217C>G	ENST00000368804.1	-	2	2475	c.2476G>C	c.(2476-2478)Gag>Cag	p.E826Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	826					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTCCCTCTCGCGTCGCTGG	0.687000													6	173					0	0	0.029380	0	0
LAPTM4A	9741	broad.mit.edu	37	2	20240727	20240727	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:20240727G>A	ENST00000175091.4	-	2	664	c.157C>T	c.(157-159)Cat>Tat	p.H53Y		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	53					transport	endomembrane system|Golgi apparatus|integral to membrane				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTTTGGATGAGTCACTTCC	0.368000													9	157					0	0	0.047766	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74914390	74914390	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:74914390G>T	ENST00000289575.5	+	13	2262	c.1867G>T	c.(1867-1869)Gac>Tac	p.D623Y	SLCO2B1_ENST00000454962.2_Missense_Mutation_p.D396Y|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.D479Y|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.D507Y|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.D601Y|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.D396Y	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	623					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CAGCGCCATCGACACCACCTG	0.632000													86	141					7.74691e-53	8.21642e-53	0.048971	1	0
IFNAR2	3455	broad.mit.edu	37	21	34635244	34635244	+	Silent	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr21:34635244G>T	ENST00000342136.4	+	9	1313	c.987G>T	c.(985-987)gcG>gcT	p.A329A	IFNAR2_ENST00000404220.3_3'UTR|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000382241.3_Silent_p.A329A|IFNAR2_ENST00000342101.3_3'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	329					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CTGAGGCAGCGCCCAGGACAA	0.498000													7	183					5.18039e-06	5.39377e-06	0.038147	1	0
CETN1	1068	broad.mit.edu	37	18	580886	580886	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:580886G>T	ENST00000327228.3	+	1	520	c.478G>T	c.(478-480)Gag>Tag	p.E160*		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	160	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						AGTGAACGAGGAGGAGTTCCT	0.537000													27	117					1.04121e-07	1.09159e-07	0.108266	1	0
XRN1	54464	broad.mit.edu	37	3	142074246	142074246	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:142074246C>G	ENST00000264951.4	-	32	3882	c.3765G>C	c.(3763-3765)gaG>gaC	p.E1255D	XRN1_ENST00000392981.2_Missense_Mutation_p.E1255D	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1255					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TACTAACCTTCTCTTGTATAG	0.308000													4	199					0	0	0.009096	0	0
SLC9A4	389015	broad.mit.edu	37	2	103124670	103124670	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:103124670C>G	ENST00000295269.4	+	5	1788	c.1331C>G	c.(1330-1332)tCt>tGt	p.S444C		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	444					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTTCCTCTGTCTCTTTTTCCT	0.363000													3	134					0	0	0.004672	0	0
MTMR4	9110	broad.mit.edu	37	17	56573327	56573327	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:56573327C>T	ENST00000323456.5	-	16	2300	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K	MTMR4_ENST00000579925.1_Missense_Mutation_p.E669K	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	726						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTAGTCTCTTCTAGGACTTTG	0.493000													31	610					0	0	0.037714	0	0
PLIN1	5346	broad.mit.edu	37	15	90210857	90210857	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:90210857C>T	ENST00000300055.5	-	7	1104	c.939G>A	c.(937-939)gaG>gaA	p.E313E	PLIN1_ENST00000430628.2_Silent_p.E313E	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	313	Poly-Glu.				triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						tctcctcagtctccaattctt	0.607000													5	52					0	0	0.014758	0	0
TTC6	319089	broad.mit.edu	37	14	38295499	38295499	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:38295499C>G	ENST00000553443.1	+	28	5074	c.5074C>G	c.(5074-5076)Ctt>Gtt	p.L1692V	TTC6_ENST00000267368.7_Missense_Mutation_p.L326V|TTC6_ENST00000476979.1_Missense_Mutation_p.L326V|TTC6_ENST00000382320.3_Missense_Mutation_p.L406V					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TGTGGTCTGTCTTCAGATGGG	0.378000													8	173					0	0	0.047766	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130687478	130687478	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:130687478G>C	ENST00000388747.4	-	9	869	c.825C>G	c.(823-825)ctC>ctG	p.L275L	PIP5KL1_ENST00000300432.3_Silent_p.L72L|PIP5KL1_ENST00000490773.1_5'UTR	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	275	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CCAGCACGTTGAGCTCCCGGA	0.637000													5	142					0	0	0.029380	0	0
UBXN4	23190	broad.mit.edu	37	2	136537915	136537915	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:136537915G>A	ENST00000272638.9	+	12	1659	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	450					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AACATCGTCAGAACCCCCAAA	0.388000													13	256					0	0	0.020292	0	0
FAN1	22909	broad.mit.edu	37	15	31218129	31218129	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:31218129C>T	ENST00000362065.4	+	10	2766	c.2475C>T	c.(2473-2475)agC>agT	p.S825S	FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	825					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACAGACGCAGCGGTTTTGACC	0.627000								Direct reversal of damage					22	277					0	0	0.069288	0	0
FOCAD	54914	broad.mit.edu	37	9	20820388	20820388	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:20820388C>G	ENST00000380249.1	+	15	1990	c.1626C>G	c.(1624-1626)gtC>gtG	p.V542V	FOCAD_ENST00000605086.1_5'UTR|FOCAD_ENST00000338382.6_Silent_p.V542V	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	542						integral to membrane	binding										TAAGAGCTGTCACTTTGCGCT	0.353000													4	175					0	0	0.014758	0	0
LRTM2	654429	broad.mit.edu	37	12	1943732	1943732	+	Missense_Mutation	SNP	G	G	A	rs146537358	byFrequency	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:1943732G>A	ENST00000543818.1	+	5	1800	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	LRTM2_ENST00000299194.1_Missense_Mutation_p.V320I|LRTM2_ENST00000535041.1_Missense_Mutation_p.V320I|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585708.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	320						integral to membrane		p.V320I(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CGTGTGCGGCGTCGTCTGCAT	0.657000													18	171					0	0	0.069288	0	0
VPS39	23339	broad.mit.edu	37	15	42457948	42457948	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:42457948C>G	ENST00000318006.5	-	17	1909	c.1747G>C	c.(1747-1749)Gag>Cag	p.E583Q	VPS39_ENST00000348544.4_Missense_Mutation_p.E594Q	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	594					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TTAAAATTCTCTATTAAGAAG	0.443000													8	148					0	0	0.058154	0	0
COL7A1	1294	broad.mit.edu	37	3	48626388	48626388	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:48626388G>A	ENST00000328333.8	-	18	2462	c.2355C>T	c.(2353-2355)ctC>ctT	p.L785L	COL7A1_ENST00000454817.1_Silent_p.L785L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	785	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGAAGCATTGAGGATCTGCA	0.607000													8	167					0	0	0.038147	0	0
IGFL3	388555	broad.mit.edu	37	19	46627533	46627533	+	Missense_Mutation	SNP	C	C	T	rs148630126		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:46627533C>T	ENST00000341415.2	-	2	95	c.71G>A	c.(70-72)gGa>gAa	p.G24E	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	24						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		ACCTGTAGTTCCTTTTGAACA	0.453000													8	125					0	0	0.047766	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008677	88008677	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chrX:88008677G>C	ENST00000276127.4	+	3	521	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	CPXCR1_ENST00000373111.1_Missense_Mutation_p.E88Q	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	88						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TCTAAAAGAAGAGCTTCTTCT	0.443000													26	9					0	0	0.099896	0	0
FAM13B	51306	broad.mit.edu	37	5	137354085	137354085	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:137354085G>A	ENST00000033079.3	-	4	727	c.276C>T	c.(274-276)ccC>ccT	p.P92P	FAM13B_ENST00000425075.2_5'UTR|FAM13B_ENST00000420893.2_Silent_p.P92P	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	92	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						TAATAGCTGAGGGAACATCTG	0.433000													10	202					0	0	0.058154	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204379825	204379825	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:204379825G>C	ENST00000367188.4	-	1	1094	c.715C>G	c.(715-717)Cag>Gag	p.Q239E	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	239					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TCACTGTTCTGATAGCTGACT	0.507000													6	210					0	0	0.038147	0	0
MUC6	4588	broad.mit.edu	37	11	1017138	1017138	+	Missense_Mutation	SNP	G	G	A	rs71472140		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:1017138G>A	ENST00000421673.2	-	31	5713	c.5663C>T	c.(5662-5664)tCc>tTc	p.S1888F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1888	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGTGGGTGGACCCTGTGGC	0.567000													127	854					0	0	0.048971	0	0
ALS2	57679	broad.mit.edu	37	2	202572650	202572650	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:202572650C>G	ENST00000264276.6	-	28	4717	c.4345G>C	c.(4345-4347)Gaa>Caa	p.E1449Q	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1449					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GACTTCCTTTCGGTTGGCAGA	0.438000													3	103					0	0	0.004672	0	0
RDH5	5959	broad.mit.edu	37	12	56118279	56118279	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:56118279G>C	ENST00000257895.5	+	5	1059	c.907G>C	c.(907-909)Gat>Cat	p.D303H	RDH5_ENST00000548082.1_Missense_Mutation_p.D303H|RDH5_ENST00000547072.1_Missense_Mutation_p.D206H|RP11-644F5.10_ENST00000550412.1_3'UTR	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	303					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					NADH(DB00157)|Vitamin A(DB00162)	CAGCCTGGTGGATGCTGTGCT	0.582000											OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	306					0	0	0.014758	0	0
KCNMB4	27345	broad.mit.edu	37	12	70824287	70824287	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:70824287C>T	ENST00000258111.4	+	3	946	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	163					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCTTCTGCATCGCACTCATGA	0.483000													15	429					0	0	0.038395	0	0
ARAP3	64411	broad.mit.edu	37	5	141041787	141041787	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:141041787C>T	ENST00000239440.4	-	20	2901	c.2836G>A	c.(2836-2838)Gct>Act	p.A946T	ARAP3_ENST00000513878.1_Missense_Mutation_p.A608T|ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	946	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CGGGCACGAGCGCCCCCTTTC	0.642000													8	318					0	0	0.047766	0	0
CDKN2AIP	55602	broad.mit.edu	37	4	184367348	184367348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:184367348C>T	ENST00000504169.1	+	3	718	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	171					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGCATCAGCTCAGCAGGAAAA	0.468000													5	149					0	0	0.014758	0	0
SYT12	91683	broad.mit.edu	37	11	66811231	66811231	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:66811231C>T	ENST00000393946.2	+	8	1906	c.744C>T	c.(742-744)aaC>aaT	p.N248N	SYT12_ENST00000525457.1_Silent_p.N248N|SYT12_ENST00000527043.1_Silent_p.N248N			Q8IV01	SYT12_HUMAN	synaptotagmin XII	248	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						ATGAGCGCAACGTCAGCACGG	0.547000													9	165					0	0	0.058154	0	0
HOOK3	84376	broad.mit.edu	37	8	42823326	42823326	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:42823326C>T	ENST00000307602.4	+	11	1291	c.1091C>T	c.(1090-1092)gCg>gTg	p.A364V		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	364					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GCCAACGCAGCGCGAAGTCAA	0.418000			T	RET	papillary thyroid								4	72					0	0	0.009096	0	0
OR4C12	283093	broad.mit.edu	37	11	50003785	50003785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:50003785G>A	ENST00000335238.4	-	1	286	c.253C>T	c.(253-255)Caa>Taa	p.Q85*		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TTCTTCTCTTGAAAGGAATCC	0.443000													76	125					0	0	0.048971	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19316071	19316071	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:19316071G>A	ENST00000454498.2	-	5	1730	c.717C>T	c.(715-717)ctC>ctT	p.L239L	CSGALNACT1_ENST00000522854.1_Silent_p.L239L|CSGALNACT1_ENST00000332246.6_Silent_p.L239L|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Silent_p.L239L|CSGALNACT1_ENST00000544602.1_Silent_p.L239L	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	239					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	p.L239L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GAAATAAGATGAGCCGTTTGA	0.433000													20	529					0	0	0.049695	0	0
LY96	23643	broad.mit.edu	37	8	74922333	74922333	+	Silent	SNP	C	C	T	rs148048520	byFrequency	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:74922333C>T	ENST00000284818.2	+	3	391	c.300C>T	c.(298-300)gaC>gaT	p.D100D	LY96_ENST00000518893.1_Silent_p.D70D	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	100					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			GATCTGATGACGATTACTCTT	0.313000													92	90					0	0	0.048971	0	0
PIGG	54872	broad.mit.edu	37	4	514999	514999	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:514999G>A	ENST00000453061.2	+	7	1375	c.1269G>A	c.(1267-1269)ctG>ctA	p.L423L	PIGG_ENST00000310340.5_Silent_p.L423L|PIGG_ENST00000503111.1_Intron|PIGG_ENST00000504346.1_Silent_p.L334L|PIGG_ENST00000509768.1_Silent_p.L334L|PIGG_ENST00000383028.4_Silent_p.L290L|PIGG_ENST00000296306.7_Intron|PIGG_ENST00000536264.1_Silent_p.L301L	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	423					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GCTTGTCCCTGAGTGCACAAG	0.517000													7	85					0	0	0.038147	0	0
LGALS1	3956	broad.mit.edu	37	22	38073070	38073070	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:38073070G>C	ENST00000215909.5	+	2	182	c.87G>C	c.(85-87)aaG>aaC	p.K29N	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	29	Galectin.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CTGACGCTAAGAGGTGAGAAG	0.667000													4	63					0	0	0.021553	0	0
KCNMB3	27094	broad.mit.edu	37	3	178984446	178984446	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:178984446C>T	ENST00000349697.2	-	1	313	c.53G>A	c.(52-54)cGc>cAc	p.R18H	KCNMB3_ENST00000497599.1_Missense_Mutation_p.R18H	NM_171828.1	NP_741979.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	0					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			CCTCCCCTGGCGCCTCCGGCT	0.587000													20	99					0	0	0.062417	0	0
AAAS	8086	broad.mit.edu	37	12	53702757	53702757	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:53702757G>A	ENST00000209873.4	-	10	1148	c.983C>T	c.(982-984)tCa>tTa	p.S328L	AAAS_ENST00000550286.1_Missense_Mutation_p.S204L|AAAS_ENST00000394384.3_Missense_Mutation_p.S295L	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	328					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						ACAGCGCCCTGATAGAGTAGG	0.522000													16	439					0	0	0.028581	0	0
TG	7038	broad.mit.edu	37	8	134145820	134145820	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:134145820G>C	ENST00000220616.4	+	47	8144	c.8104G>C	c.(8104-8106)Gag>Cag	p.E2702Q	TG_ENST00000519543.1_Missense_Mutation_p.E835Q|TG_ENST00000377869.1_Missense_Mutation_p.E2645Q|TG_ENST00000542445.1_Missense_Mutation_p.E1072Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2702					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGAGTTCAGTGAGCTGCTCCC	0.537000													3	142					0	0	0.004672	0	0
CRNKL1	51340	broad.mit.edu	37	20	20023027	20023027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:20023027C>T	ENST00000377340.2	-	9	1620	c.1589G>A	c.(1588-1590)tGg>tAg	p.W530*	CRNKL1_ENST00000377327.4_Nonsense_Mutation_p.W518*|CRNKL1_ENST00000536226.1_Nonsense_Mutation_p.W369*	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	530					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GTAGCGCTTCCAGTGCCTCTT	0.448000													6	225					0	0	0.021553	0	0
PNLDC1	154197	broad.mit.edu	37	6	160222178	160222178	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:160222178G>C	ENST00000275275.5	+	3	306	c.135G>C	c.(133-135)aaG>aaC	p.K45N	PNLDC1_ENST00000392167.3_Missense_Mutation_p.K56N	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	45						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)		GGTATCTAAAGACCCGTCAGA	0.433000													16	440					0	0	0.049695	0	0
HERC1	8925	broad.mit.edu	37	15	63972741	63972741	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:63972741C>T	ENST00000443617.2	-	35	6547	c.6460G>A	c.(6460-6462)Gga>Aga	p.G2154R	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2154	B30.2/SPRY.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGTACCTCTCCATTTTTCCCA	0.388000													4	74					0	0	0.009096	0	0
TACC1	6867	broad.mit.edu	37	8	38677342	38677342	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:38677342G>A	ENST00000379931.3	+	3	959	c.580G>A	c.(580-582)Gag>Aag	p.E194K	TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000317827.4_Missense_Mutation_p.E194K|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.E149K|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000520340.1_Missense_Mutation_p.E158K|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000443286.2_Missense_Mutation_p.E210K|TACC1_ENST00000520615.1_5'UTR			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	194	Interaction with TDRD7.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CCTCCAGGACGAGGCGATGAC	0.597000													8	257					0	0	0.038147	0	0
TP53BP2	7159	broad.mit.edu	37	1	223984046	223984046	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:223984046G>C	ENST00000391878.2	-	14	2576	c.1808C>G	c.(1807-1809)tCt>tGt	p.S603C	TP53BP2_ENST00000343537.7_Missense_Mutation_p.S732C|TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000498843.1_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	726					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TGGTGCGTTAGACAGTTTCTT	0.438000													6	261					0	0	0.021553	0	0
CCDC34	91057	broad.mit.edu	37	11	27384412	27384412	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:27384412C>T	ENST00000317945.6	-	1	369	c.330G>A	c.(328-330)ctG>ctA	p.L110L	CCDC34_ENST00000328697.6_Silent_p.L110L	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	110										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CCATTCCTCTCAGGCTCGCCA	0.562000													9	215					0	0	0.047766	0	0
PDLIM5	10611	broad.mit.edu	37	4	95496979	95496979	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:95496979C>T	ENST00000317968.4	+	5	640	c.504C>T	c.(502-504)gcC>gcT	p.A168A	PDLIM5_ENST00000542407.1_Silent_p.A46A|PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000508216.1_Intron	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	168					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CCGTGGCTGCCGTCACTCCTC	0.547000													7	218					0	0	0.029380	0	0
ENOX1	55068	broad.mit.edu	37	13	43930093	43930093	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:43930093G>A	ENST00000261488.6	-	8	1362	c.785C>T	c.(784-786)tCg>tTg	p.S262L	ENOX1_ENST00000412891.1_Missense_Mutation_p.S262L|ENOX1_ENST00000540032.1_Missense_Mutation_p.S75L	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	262					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TTCGTGCTCCGAGTAGTGCAT	0.637000													14	207					0	0	0.038395	0	0
CALM1	801	broad.mit.edu	37	14	90870274	90870274	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:90870274G>A	ENST00000356978.4	+	4	495	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	CALM1_ENST00000447653.3_Missense_Mutation_p.E84K|RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000553542.1_Missense_Mutation_p.E47K|CALM1_ENST00000544280.2_Missense_Mutation_p.E47K	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	83	EF-hand 3.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	TACAGATAGTGAAGAAGAAAT	0.383000													33	21					0	0	0.054565	0	0
PTPRK	5796	broad.mit.edu	37	6	128291404	128291404	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:128291404C>T	ENST00000368227.3	-	31	4708	c.4342G>A	c.(4342-4344)Gat>Aat	p.D1448N	PTPRK_ENST00000368215.3_Missense_Mutation_p.D1430N|PTPRK_ENST00000368226.4_Missense_Mutation_p.D1431N|PTPRK_ENST00000532331.1_Missense_Mutation_p.D1453N|PTPRK_ENST00000368213.5_Missense_Mutation_p.D1437N|PTPRK_ENST00000368210.3_Missense_Mutation_p.D1449N|PTPRK_ENST00000368207.3_Missense_Mutation_p.D1463N			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1430					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AAAGCTACATCATAGCAGAAA	0.383000													5	106					0	0	0.021553	0	0
FBLN1	2192	broad.mit.edu	37	22	45959062	45959062	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:45959062G>C	ENST00000402984.3	+	16	2185	c.2082G>C	c.(2080-2082)ctG>ctC	p.L694L	FBLN1_ENST00000442170.2_Intron|FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000262722.7_Silent_p.L656L			P23142	FBLN1_HUMAN	fibulin 1	674					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ACTTGCTCCTGACCGTCAAGA	0.612000													10	146					0	0	0.080935	0	0
CASZ1	54897	broad.mit.edu	37	1	10715871	10715871	+	Splice_Site	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:10715871C>T	ENST00000377022.3	-	9	1818		c.e9-1		CASZ1_ENST00000344008.5_Splice_Site	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCGTGAACCTCTGCCAGGAGA	0.632000													4	85					0	0	0.009096	0	0
NPR2	4882	broad.mit.edu	37	9	35807370	35807370	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:35807370T>C	ENST00000342694.2	+	18	2942	c.2687T>C	c.(2686-2688)aTa>aCa	p.I896T		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	896	Guanylate cyclase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TTTGATGCCATAATTGACAAC	0.443000													40	313					0	0	0.111260	0	0
TTBK1	84630	broad.mit.edu	37	6	43222389	43222389	+	Splice_Site	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:43222389C>T	ENST00000259750.4	+	6	659	c.576_splice	c.e6+1	p.P192_splice	TTBK1_ENST00000304139.5_Splice_Site_p.P141_splice	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	192	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ATGTGCGGCCCGTGAGTACCG	0.627000													6	111					0	0	0.021553	0	0
MVP	9961	broad.mit.edu	37	16	29853148	29853148	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:29853148G>A	ENST00000357402.5	+	9	1561	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	MVP_ENST00000395353.1_Missense_Mutation_p.E475K|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	475					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGACTACCGAGAGAAGCGAGC	0.662000													4	73					0	0	0.009096	0	0
CREB3L1	90993	broad.mit.edu	37	11	46321584	46321584	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:46321584G>C	ENST00000529193.1	+	2	652	c.201G>C	c.(199-201)aaG>aaC	p.K67N	CREB3L1_ENST00000288400.3_Missense_Mutation_p.K67N			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	67					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		TGGATGAGAAGAGCCCTCTAT	0.577000			T	FUS	myxofibrosarcoma								17	45					0	0	0.038395	0	0
C3orf70	285382	broad.mit.edu	37	3	184801032	184801032	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:184801032C>G	ENST00000335012.2	-	2	706	c.516G>C	c.(514-516)gaG>gaC	p.E172D		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	172										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						GTGTATTGCTCTCTTTTGAAA	0.483000													17	159					0	0	0.028581	0	0
S100G	795	broad.mit.edu	37	X	16669151	16669151	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chrX:16669151G>A	ENST00000380200.3	+	2	76	c.22G>A	c.(22-24)Gag>Aag	p.E8K	CTPS2_ENST00000443824.1_Intron|CTPS2_ENST00000359276.4_Intron|CTPS2_ENST00000380241.3_Intron	NM_004057.2	NP_004048.1	P29377	S100G_HUMAN	S100 calcium binding protein G	8							calcium ion binding|vitamin D binding			large_intestine(1)|lung(1)	2	Hepatocellular(33;0.0997)					AAAGTCTCCTGAGGAACTGAA	0.393000													5	103					0	0	0.021553	0	0
MSH6	2956	broad.mit.edu	37	2	48026377	48026377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:48026377C>T	ENST00000234420.4	+	4	1407	c.1255C>T	c.(1255-1257)Cag>Tag	p.Q419*	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Nonsense_Mutation_p.Q289*|MSH6_ENST00000538136.1_Nonsense_Mutation_p.Q117*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	419					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GATTAAGTCTCAGAACTTTGA	0.448000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				4	141					0	0	0.009096	0	0
TENM2	57451	broad.mit.edu	37	5	167622191	167622191	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:167622191C>G	ENST00000519204.1	+	14	2546	c.2428C>G	c.(2428-2430)Ctc>Gtc	p.L810V	TENM2_ENST00000403607.2_Missense_Mutation_p.L755V|TENM2_ENST00000518659.1_Missense_Mutation_p.L931V|TENM2_ENST00000520394.1_Missense_Mutation_p.L699V|TENM2_ENST00000545108.1_Missense_Mutation_p.L931V					teneurin transmembrane protein 2																		CTTGGTTTCTCTCATCCGAGG	0.507000													3	45					0	0	0.004672	0	0
CNOT6	57472	broad.mit.edu	37	5	179998378	179998378	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:179998378G>C	ENST00000393356.1	+	13	1831	c.1407G>C	c.(1405-1407)caG>caC	p.Q469H	CNOT6_ENST00000261951.4_Missense_Mutation_p.Q469H			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	469					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TCAAGTTACAGAGTGCCTATG	0.413000													3	163					0	0	0.009096	0	0
ILVBL	10994	broad.mit.edu	37	19	15233935	15233935	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:15233935G>C	ENST00000263383.3	-	4	596	c.457C>G	c.(457-459)Ctg>Gtg	p.L153V	ILVBL_ENST00000534378.1_Missense_Mutation_p.L46V|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	153						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						ACCTGCAGCAGAGTGCTGGCA	0.627000													9	224					0	0	0.058154	0	0
CBX1	10951	broad.mit.edu	37	17	46152376	46152376	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:46152376C>G	ENST00000393408.3	-	4	885	c.405G>C	c.(403-405)ctG>ctC	p.L135L	CBX1_ENST00000225603.4_Silent_p.L135L|CBX1_ENST00000495350.1_Silent_p.L135L	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	135	Chromo 2; shadow subtype.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						ACCATTTCATCAGGAACATGA	0.478000													11	286					0	0	0.093190	0	0
IL23R	149233	broad.mit.edu	37	1	67635171	67635171	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:67635171G>C	ENST00000347310.5	+	3	388	c.217G>C	c.(217-219)Gaa>Caa	p.E73Q	C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.E73Q	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	73					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TGGCATCAAAGAAAGATTTCA	0.343000													9	227					0	0	0.047766	0	0
STRIP2	57464	broad.mit.edu	37	7	129122805	129122805	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:129122805G>C	ENST00000249344.2	+	20	2212	c.2172G>C	c.(2170-2172)tgG>tgC	p.W724C	STRIP2_ENST00000435494.2_Missense_Mutation_p.W724C	NM_020704.2	NP_065755.1			striatin interacting protein 2																		GGCGCCAATGGAGGAAAAGCA	0.488000													7	107					0	0	0.029380	0	0
L3HYPDH	112849	broad.mit.edu	37	14	59939793	59939793	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:59939793C>G	ENST00000247194.4	-	5	1068	c.955G>C	c.(955-957)Gat>Cat	p.D319H	L3HYPDH_ENST00000543619.1_5'UTR	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)																		GCTTTAAAATCACCACATTTC	0.373000													5	162					0	0	0.014758	0	0
MAPK12	6300	broad.mit.edu	37	22	50695547	50695547	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:50695547G>C	ENST00000215659.8	-	4	705	c.390C>G	c.(388-390)atC>atG	p.I130M	MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Missense_Mutation_p.I50M	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	130	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGGAACTGGATCCGGTCCT	0.667000													7	98					0	0	0.047766	0	0
KDM7A	80853	broad.mit.edu	37	7	139827294	139827294	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:139827294G>A	ENST00000397560.2	-	5	746	c.649C>T	c.(649-651)Cct>Tct	p.P217S	JHDM1D_ENST00000006967.5_Missense_Mutation_p.P217S	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		217					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GGTCTGTTAGGATTCATGAAG	0.378000													11	227					0	0	0.069234	0	0
PPL	5493	broad.mit.edu	37	16	4933779	4933779	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:4933779G>T	ENST00000345988.2	-	22	4966	c.4877C>A	c.(4876-4878)tCc>tAc	p.S1626Y	PPL_ENST00000590782.2_Missense_Mutation_p.S1624Y	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1626					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TTTGTCCTTGGAGAGCCTCTT	0.622000													4	115					0.014758	0.0150558	0.014758	1	0
BRAF	673	broad.mit.edu	37	7	140434447	140434447	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:140434447G>C	ENST00000288602.6	-	18	2311	c.2251C>G	c.(2251-2253)Cca>Gca	p.P751A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	751					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GGTGTTTTTGGAGAAGCACAA	0.463000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				28	609					0	0	0.034045	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879505	3879505	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:3879505G>A	ENST00000315677.3	-	4	1159	c.564C>T	c.(562-564)cgC>cgT	p.R188R	DLGAP1_ENST00000515196.2_Silent_p.R188R|DLGAP1_ENST00000581527.1_Silent_p.R188R|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Silent_p.R188R	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	188					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TGGGCTCCGCGCGCCGCTCCT	0.706000													110	399					0	0	0.048971	0	0
MCF2	4168	broad.mit.edu	37	X	138698572	138698572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chrX:138698572G>A	ENST00000520602.1	-	12	1525	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	MCF2_ENST00000370573.4_Nonsense_Mutation_p.Q354*|MCF2_ENST00000338585.6_Nonsense_Mutation_p.Q354*|MCF2_ENST00000370576.4_Nonsense_Mutation_p.Q354*|MCF2_ENST00000370578.4_Nonsense_Mutation_p.Q499*|MCF2_ENST00000519895.1_Nonsense_Mutation_p.Q414*|MCF2_ENST00000536274.1_Nonsense_Mutation_p.Q315*|MCF2_ENST00000414978.1_Nonsense_Mutation_p.Q414*			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	354					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCTTTAGACTGAAACTTATCT	0.338000													4	67					0	0	0.014758	0	0
NID1	4811	broad.mit.edu	37	1	236154251	236154251	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:236154251C>T	ENST00000264187.6	-	14	2945	c.2863G>A	c.(2863-2865)Gag>Aag	p.E955K	NID1_ENST00000366595.3_Missense_Mutation_p.E822K	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	955					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGCAGGCGCTCAATCTTCCCA	0.577000													4	167					0	0	0.009096	0	0
GMEB1	10691	broad.mit.edu	37	1	29029013	29029013	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:29029013C>G	ENST00000373816.1	+	7	800	c.662C>G	c.(661-663)tCa>tGa	p.S221*	GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000294409.2_Nonsense_Mutation_p.S231*|GMEB1_ENST00000361872.4_Nonsense_Mutation_p.S221*	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GAATGGAACTCAGCTCTCACC	0.488000													5	104					0	0	0.014758	0	0
ASH1L	55870	broad.mit.edu	37	1	155449016	155449016	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155449016C>G	ENST00000368346.3	-	3	4284	c.3645G>C	c.(3643-3645)gaG>gaC	p.E1215D	ASH1L_ENST00000392403.3_Missense_Mutation_p.E1215D			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1215					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.E1215D(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CACAAAATTTCTCTGCCCTGT	0.418000													73	192					0	0	0.048971	0	0
FAM155A	728215	broad.mit.edu	37	13	108518355	108518355	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:108518355C>T	ENST00000375915.2	-	1	728	c.590G>A	c.(589-591)cGg>cAg	p.R197Q		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	197						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGCCGCCCCCCGACTCCAGTT	0.632000													29	217					0	0	0.041601	0	0
DST	667	broad.mit.edu	37	6	56357812	56357812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:56357812G>A	ENST00000370754.5	-	84	20376	c.20377C>T	c.(20377-20379)Cag>Tag	p.Q6793*	DST_ENST00000244364.6_Nonsense_Mutation_p.Q4201*|DST_ENST00000361203.3_Nonsense_Mutation_p.Q6504*|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Nonsense_Mutation_p.Q6615*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q4527*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q6289*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q4418*			Q03001	DYST_HUMAN	dystonin	6613					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTTCAGCCTGAGTAAGCCAG	0.428000													5	37					0	0	0.014758	0	0
CSMD2	114784	broad.mit.edu	37	1	33992840	33992840	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:33992840C>G	ENST00000373381.4	-	65	10366	c.10190G>C	c.(10189-10191)aGa>aCa	p.R3397T		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3253						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTTGATGGGTCTCCCACTGGG	0.507000													4	138					0	0	0.009096	0	0
TIMELESS	8914	broad.mit.edu	37	12	56812008	56812008	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:56812008C>G	ENST00000229201.4	-	27	3515	c.3361G>C	c.(3361-3363)Gat>Cat	p.D1121H	TIMELESS_ENST00000554616.1_Missense_Mutation_p.D619H|TIMELESS_ENST00000553532.1_Missense_Mutation_p.D1122H	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1122					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TGCTCCTCATCAGAGCCTTGC	0.582000													26	882					0	0	0.091800	0	0
EIF3L	51386	broad.mit.edu	37	22	38254699	38254699	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:38254699G>C	ENST00000412331.2	+	5	969	c.387G>C	c.(385-387)ctG>ctC	p.L129L	EIF3L_ENST00000406934.1_Silent_p.L31L|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Silent_p.L129L	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	129						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTGTCTTCCTGATTTTATACA	0.378000													16	556					0	0	0.024245	0	0
LMTK3	114783	broad.mit.edu	37	19	49001325	49001325	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:49001325C>T	ENST00000600059.1	-	11	3228	c.3001G>A	c.(3001-3003)Gac>Aac	p.D1001N	LMTK3_ENST00000270238.3_Missense_Mutation_p.D1030N					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GACACCTTGTCCTCGCTCTTT	0.642000													9	428					0	0	0.058154	0	0
TAB1	10454	broad.mit.edu	37	22	39814772	39814772	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:39814772G>C	ENST00000216160.6	+	6	648	c.586G>C	c.(586-588)Gat>Cat	p.D196H	TAB1_ENST00000331454.3_Missense_Mutation_p.D196H	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	196	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						ATCGACAGTGGATGGGTTGCA	0.527000													40	94					0	0	0.045515	0	0
MIR99AHG	388815	broad.mit.edu	37	21	17443521	17443521	+	RNA	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr21:17443521G>A	ENST00000458468.1	+	0	115					NR_027790.1																						TGGGAAGCAGGAGGGAGACTC	0.507000													6	264					0	0	0.021553	0	0
MMP3	4314	broad.mit.edu	37	11	102713291	102713291	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:102713291C>G	ENST00000299855.5	-	3	626	c.370G>C	c.(370-372)Gat>Cat	p.D124H		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	124					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TTTGGCAAATCTGGTGTATAA	0.398000													6	201					0	0	0.029380	0	0
SLC9C1	285335	broad.mit.edu	37	3	111898545	111898545	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:111898545C>G	ENST00000305815.5	-	23	3004	c.2752G>C	c.(2752-2754)Gaa>Caa	p.E918Q	SLC9C1_ENST00000487372.1_Missense_Mutation_p.E870Q	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	918					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TTTGATTTTTCAAGCTGTTCA	0.333000													3	125					0	0	0.004672	0	0
BRSK2	9024	broad.mit.edu	37	11	1467115	1467115	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:1467115G>A	ENST00000308219.9	+	12	1590	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	BRSK2_ENST00000528710.1_Missense_Mutation_p.E342K|BRSK2_ENST00000526678.1_Missense_Mutation_p.E402K|BRSK2_ENST00000544817.1_Missense_Mutation_p.E97K|BRSK2_ENST00000528841.1_Missense_Mutation_p.E402K|BRSK2_ENST00000382179.1_Missense_Mutation_p.E448K|BRSK2_ENST00000308230.5_Missense_Mutation_p.E402K|BRSK2_ENST00000531197.1_Missense_Mutation_p.E402K	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	402					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GCGGGCCATTGAGATGGCCCA	0.716000													4	107					0	0	0.009096	0	0
IFNE	338376	broad.mit.edu	37	9	21481364	21481364	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:21481364G>A	ENST00000448696.3	-	1	948	c.330C>T	c.(328-330)ctC>ctT	p.L110L	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	110					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						GAAGTTGAATGAGGAATTTCT	0.448000													11	265					0	0	0.020292	0	0
KCTD19	146212	broad.mit.edu	37	16	67329284	67329284	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:67329284G>C	ENST00000304372.5	-	9	1328	c.1273C>G	c.(1273-1275)Cag>Gag	p.Q425E		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	425	BTB 2.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TACACTCTCTGAGGGTTGGAC	0.527000													3	93					0	0	0.009096	0	0
TEFM	79736	broad.mit.edu	37	17	29226242	29226242	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:29226242G>A	ENST00000581216.1	-	4	1649	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L	TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	343					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding										TTGTAATAATGAATCATAAAG	0.363000													9	278					0	0	0.047766	0	0
USP19	10869	broad.mit.edu	37	3	49155175	49155175	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:49155175G>C	ENST00000453664.1	-	4	705	c.387C>G	c.(385-387)gtC>gtG	p.V129V	USP19_ENST00000417901.1_Silent_p.V129V|USP19_ENST00000434032.2_Silent_p.V129V|USP19_ENST00000398892.3_Silent_p.V67V|USP19_ENST00000398888.2_Silent_p.V129V|USP19_ENST00000398896.1_5'UTR|USP19_ENST00000398898.2_Silent_p.V67V|USP19_ENST00000488993.1_5'UTR	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	129	CS 1.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACGAAGCTTGACAATCACCT	0.527000													6	117					0	0	0.021553	0	0
TBCCD1	55171	broad.mit.edu	37	3	186274220	186274220	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:186274220C>G	ENST00000424280.1	-	4	1316	c.837G>C	c.(835-837)aaG>aaC	p.K279N	TBCCD1_ENST00000446782.1_Missense_Mutation_p.K183N|TBCCD1_ENST00000338733.5_Missense_Mutation_p.K279N	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	279					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AAGCCAATTTCTTTCCAGACT	0.353000													12	129					0	0	0.093190	0	0
CPNE6	9362	broad.mit.edu	37	14	24545039	24545039	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:24545039G>C	ENST00000397016.2	+	11	1179	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	CPNE6_ENST00000216775.2_Missense_Mutation_p.E290Q|CPNE6_ENST00000537691.1_Missense_Mutation_p.E345Q			O95741	CPNE6_HUMAN	copine VI (neuronal)	290					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCTCCAGGTGGAGAAGGTGCA	0.602000													3	100					0	0	0.004672	0	0
SSSCA1	10534	broad.mit.edu	37	11	65338884	65338884	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:65338884C>G	ENST00000531405.1	+	3	404	c.168C>G	c.(166-168)ctC>ctG	p.L56L	SSSCA1_ENST00000527920.1_Intron|SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000309328.3_Silent_p.L93L			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	93					cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						AGGCTGCCCTCTCCCAAGCTC	0.632000													10	158					0	0	0.080935	0	0
AFG3L2	10939	broad.mit.edu	37	18	12344174	12344174	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:12344174G>A	ENST00000269143.3	-	14	1967	c.1736C>T	c.(1735-1737)gCg>gTg	p.A579V		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	579					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GCCGGCAACCGCATGGCCTGC	0.527000													5	343					0	0	0.029380	0	0
COX5A	9377	broad.mit.edu	37	15	75216032	75216032	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:75216032G>C	ENST00000322347.6	-	4	572	c.419C>G	c.(418-420)tCc>tGc	p.S140C	COX5A_ENST00000568517.1_Missense_Mutation_p.S59C|COX5A_ENST00000567270.1_Missense_Mutation_p.S101C|COX5A_ENST00000564811.1_Missense_Mutation_p.S140C|COX5A_ENST00000568783.1_Intron|COX5A_ENST00000562233.1_Intron	NM_004255.3	NP_004246.2	P20674	COX5A_HUMAN	cytochrome c oxidase subunit Va	140					respiratory electron transport chain	mitochondrial inner membrane	cytochrome-c oxidase activity|electron carrier activity|metal ion binding			endometrium(1)|large_intestine(1)|pancreas(1)	3						CTCCGGAGTGGAGATTCCCAG	0.468000													3	140					0	0	0.014758	0	0
SEMA4A	64218	broad.mit.edu	37	1	156142792	156142792	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:156142792G>A	ENST00000368285.3	+	11	1577	c.1310G>A	c.(1309-1311)gGa>gAa	p.G437E	SEMA4A_ENST00000355014.2_Missense_Mutation_p.G437E|SEMA4A_ENST00000368286.2_Missense_Mutation_p.G305E|SEMA4A_ENST00000368284.1_Missense_Mutation_p.G305E|SEMA4A_ENST00000368282.1_Missense_Mutation_p.G437E|SEMA4A_ENST00000487358.1_3'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	437	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					ATGTACCTGGGAACCAGTGAG	0.557000													5	58					0	0	0.021553	0	0
SOBP	55084	broad.mit.edu	37	6	107956425	107956425	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:107956425G>A	ENST00000317357.5	+	6	3036	c.2377G>A	c.(2377-2379)Gag>Aag	p.E793K	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	793							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GCTGATGGGCGAGGAGGCCCT	0.632000													7	162					0	0	0.029380	0	0
TGFBI	7045	broad.mit.edu	37	5	135391456	135391456	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:135391456C>A	ENST00000442011.2	+	11	1659	c.1498C>A	c.(1498-1500)Ccc>Acc	p.P500T	TGFBI_ENST00000305126.8_Missense_Mutation_p.P500T	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	500					angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGCTGACCCCCCCAATGGG	0.587000													29	51					5.45727e-16	5.74782e-16	0.037714	1	0
CAPNS1	826	broad.mit.edu	37	19	36637120	36637120	+	Silent	SNP	C	C	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:36637120C>A	ENST00000246533.3	+	9	1225	c.627C>A	c.(625-627)ctC>ctA	p.L209L	AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Silent_p.L209L|CAPNS1_ENST00000589146.1_Silent_p.L35L|CAPNS1_ENST00000588780.1_Silent_p.L219L|CAPNS1_ENST00000590874.1_Silent_p.L179L|CAPNS1_ENST00000588815.1_Silent_p.L209L	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	209	EF-hand 4.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATGAGCATCTCTATAACATGA	0.537000													9	619					0.000442599	0.000455617	0.058154	1	0
ZNF480	147657	broad.mit.edu	37	19	52825764	52825764	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:52825764C>G	ENST00000595962.1	+	5	1327	c.1261C>G	c.(1261-1263)Cat>Gat	p.H421D	ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.H378D|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.H344D	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TCGAAGAATTCATACTGGAGA	0.373000													9	236					0	0	0.058154	0	0
MSL2	55167	broad.mit.edu	37	3	135871283	135871283	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:135871283G>A	ENST00000309993.2	-	2	1172	c.440C>T	c.(439-441)tCa>tTa	p.S147L	MSL2_ENST00000434835.2_Missense_Mutation_p.S73L	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	147					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GGATGAATCTGAGGGTTTTTC	0.403000													6	167					0	0	0.029380	0	0
CENPN	55839	broad.mit.edu	37	16	81045655	81045655	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:81045655G>A	ENST00000305850.5	+	2	901	c.111G>A	c.(109-111)caG>caA	p.Q37Q	CENPN_ENST00000393335.3_Silent_p.Q37Q|CENPN_ENST00000439957.3_Silent_p.Q37Q|CENPN_ENST00000428963.2_Silent_p.Q37Q|CENPN_ENST00000569461.1_3'UTR|CENPN_ENST00000299572.5_Silent_p.Q37Q|CMC2_ENST00000565914.1_Intron	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	37					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|large_intestine(5)|lung(4)	10						ATCAACTGCAGACTGTAAATT	0.413000													37	63					0	0	0.080422	0	0
MAP1B	4131	broad.mit.edu	37	5	71494638	71494638	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:71494638C>T	ENST00000296755.7	+	5	5754	c.5456C>T	c.(5455-5457)tCt>tTt	p.S1819F		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1819						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGTTCCTCTTCTCCACCAATA	0.468000													6	120					0	0	0.021553	0	0
TECR	9524	broad.mit.edu	37	19	14675667	14675667	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:14675667C>T	ENST00000600083.1	+	8	727	c.94C>T	c.(94-96)Cct>Tct	p.P32S	TECR_ENST00000215567.5_Missense_Mutation_p.P187S|TECR_ENST00000436007.2_Missense_Mutation_p.P202S|TECR_ENST00000596073.1_Missense_Mutation_p.P32S			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	187					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						CTACACTCCCCCTAGTAAGTG	0.617000													9	189					0	0	0.047766	0	0
PCBP4	57060	broad.mit.edu	37	3	51993286	51993286	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:51993286G>C	ENST00000461554.1	-	11	990	c.659C>G	c.(658-660)tCa>tGa	p.S220*	PCBP4_ENST00000322099.7_Nonsense_Mutation_p.S220*|PCBP4_ENST00000395014.2_Nonsense_Mutation_p.S241*|PCBP4_ENST00000484633.1_Nonsense_Mutation_p.S177*|PCBP4_ENST00000471622.1_Nonsense_Mutation_p.S220*|PCBP4_ENST00000355852.2_Nonsense_Mutation_p.S220*|PCBP4_ENST00000428823.2_Nonsense_Mutation_p.S177*|PCBP4_ENST00000395013.3_Nonsense_Mutation_p.S60*	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	220						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCATGGCTTGAGAGCTGCTG	0.632000													24	49					0	0	0.069288	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941729	13941729	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:13941729C>G	ENST00000254323.2	+	13	3024	c.2835C>G	c.(2833-2835)ttC>ttG	p.F945L	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.F779L	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	945							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TCATCGAATTCCTGGGCAAGG	0.612000													7	209					0	0	0.038147	0	0
POTEF	728378	broad.mit.edu	37	2	130832366	130832366	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:130832366G>A	ENST00000357462.5	-	15	2772	c.2679C>T	c.(2677-2679)ctC>ctT	p.L893L	POTEF_ENST00000409914.2_Silent_p.L893L			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	893	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CATGCTCGGTGAGGATCTTCA	0.587000													9	98					0	0	0.047766	0	0
BPIFC	254240	broad.mit.edu	37	22	32828417	32828417	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:32828417G>C	ENST00000397452.1	-	11	1202	c.1092C>G	c.(1090-1092)atC>atG	p.I364M	BPIFC_ENST00000534972.1_Missense_Mutation_p.I88M|BPIFC_ENST00000432451.2_Intron|BPIFC_ENST00000300399.3_Missense_Mutation_p.I364M			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	364						extracellular region	lipopolysaccharide binding|phospholipid binding										TGAGCATCATGATGGAGGCAG	0.517000													6	161					0	0	0.021553	0	0
LRRC43	254050	broad.mit.edu	37	12	122677376	122677376	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:122677376G>A	ENST00000339777.4	+	7	1202	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	LRRC43_ENST00000425921.1_Missense_Mutation_p.E207K	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	392	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		AGACATTGTTGAAGAGGTTAC	0.517000													7	192					0	0	0.038147	0	0
NEK2	4751	broad.mit.edu	37	1	211842543	211842543	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:211842543G>A	ENST00000366999.4	-	6	1035	c.897C>T	c.(895-897)tcC>tcT	p.S299S	NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000366998.3_Silent_p.S299S|NEK2_ENST00000540251.1_Silent_p.S256S	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	299	Interaction with PCNT.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		ATACAGGGCTGGAATCCTGCG	0.443000													16	424					0	0	0.024245	0	0
TIAM2	26230	broad.mit.edu	37	6	155450635	155450635	+	Missense_Mutation	SNP	C	C	T	rs141887143		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:155450635C>T	ENST00000461783.3	+	6	1551	c.278C>T	c.(277-279)aCg>aTg	p.T93M	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.T93M|TIAM2_ENST00000456144.1_Missense_Mutation_p.T93M|TIAM2_ENST00000360366.4_Missense_Mutation_p.T93M|TIAM2_ENST00000318981.5_Missense_Mutation_p.T93M			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	93					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCCTACTCCACGCACAGGACA	0.552000													5	76					0	0	0.014758	0	0
ACMSD	130013	broad.mit.edu	37	2	135659429	135659429	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:135659429G>C	ENST00000356140.5	+	10	1146	c.1010G>C	c.(1009-1011)tGa>tCa	p.*337S	ACMSD_ENST00000283054.4_Nonstop_Mutation_p.*279S|ACMSD_ENST00000392928.1_Nonstop_Mutation_p.*279S|AC016725.4_ENST00000392929.2_RNA|AC016725.4_ENST00000428857.1_RNA|AC016725.4_ENST00000413962.1_RNA|AC016725.4_ENST00000537615.1_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	0					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CAATTTGAATGACTGAATTTA	0.299000													3	75					0	0	0.014758	0	0
SPRR2E	6704	broad.mit.edu	37	1	153066128	153066128	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:153066128C>G	ENST00000368751.1	-	2	174	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	SPRR2E_ENST00000368750.3_Missense_Mutation_p.E34Q|SPRR2B_ENST00000368752.4_Intron			P22531	SPR2E_HUMAN	small proline-rich protein 2E	34	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCAGGGCTCAGGGCACTTC	0.617000													10	531					0	0	0.080935	0	0
AAAS	8086	broad.mit.edu	37	12	53702953	53702953	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:53702953G>A	ENST00000209873.4	-	9	1088	c.923C>T	c.(922-924)tCa>tTa	p.S308L	AAAS_ENST00000550286.1_Missense_Mutation_p.S184L|AAAS_ENST00000394384.3_Missense_Mutation_p.S275L	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	308					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AAAGACAGCTGAAGGAGTGGT	0.577000													26	583					0	0	0.030593	0	0
RFX7	64864	broad.mit.edu	37	15	56387891	56387891	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:56387891G>A	ENST00000423270.1	-	9	2034	c.2035C>T	c.(2035-2037)Cag>Tag	p.Q679*	RFX7_ENST00000317318.6_Nonsense_Mutation_p.Q679*|RFX7_ENST00000559447.2_Nonsense_Mutation_p.Q582*|RFX7_ENST00000422057.1_Nonsense_Mutation_p.Q582*	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	582					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCTGAAAGCTGTTCCACAATT	0.448000													10	197					0	0	0.069234	0	0
ACADM	34	broad.mit.edu	37	1	76215195	76215195	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:76215195G>A	ENST00000370841.4	+	9	1237	c.800G>A	c.(799-801)gGa>gAa	p.G267E	ACADM_ENST00000541113.1_Missense_Mutation_p.G231E|ACADM_ENST00000543667.1_Missense_Mutation_p.G78E|ACADM_ENST00000370834.5_Missense_Mutation_p.G300E|ACADM_ENST00000420607.2_Missense_Mutation_p.G271E	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	267			G -> R (in ACADMD).		carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						ATTGGTGACGGAGCTGGTTTC	0.343000													14	179					0	0	0.024245	0	0
EGFR	1956	broad.mit.edu	37	7	55240703	55240703	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:55240703G>A	ENST00000275493.2	+	17	2124	c.1947G>A	c.(1945-1947)ggG>ggA	p.G649G	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.G596G|EGFR_ENST00000455089.1_Silent_p.G604G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	649					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCGCCACTGGGATGGTGGGGG	0.632000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			5	222					0	0	0.038147	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102452268	102452268	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:102452268G>A	ENST00000360184.4	+	8	1870	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	569	Interaction with DYNC1I2 (By similarity).|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						GCTCGCCTTCGGGATCAGCTT	0.547000													38	27					0	0	0.074837	0	0
ZNF169	169841	broad.mit.edu	37	9	97062673	97062673	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:97062673C>G	ENST00000395395.2	+	5	923	c.833C>G	c.(832-834)tCc>tGc	p.S278C	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	278				SLS -> PSP (in Ref. 5; AAA70188).		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GCCTCCCTCTCCATACACCAG	0.542000													4	172					0	0	0.009096	0	0
PLB1	151056	broad.mit.edu	37	2	28789673	28789673	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:28789673G>A	ENST00000422425.2	+	20	1368	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	PLB1_ENST00000327757.5_Missense_Mutation_p.D431N|PLB1_ENST00000329020.6_Missense_Mutation_p.D119N	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	431	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CGTCGGCGGAGATGAGAACAT	0.622000											OREG0014523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	109					0	0	0.069234	0	0
CNGB1	1258	broad.mit.edu	37	16	57983300	57983300	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:57983300C>T	ENST00000564448.1	-	14	1120	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	CNGB1_ENST00000251102.8_Missense_Mutation_p.E360K			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	360	Poly-Glu.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						tcttcctcttcctcctcctca	0.587000													4	146					0	0	0.009096	0	0
ASTN1	460	broad.mit.edu	37	1	176993782	176993782	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:176993782G>C	ENST00000367654.2	-	6	1220	c.1207C>G	c.(1207-1209)Cac>Gac	p.H403D	ASTN1_ENST00000361833.2_Missense_Mutation_p.H403D|ASTN1_ENST00000424564.2_Missense_Mutation_p.H403D|ASTN1_ENST00000367657.3_Missense_Mutation_p.H403D|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	403					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGTTGACGTGAGAGGAGCAC	0.552000													5	84					0	0	0.014758	0	0
ITGB6	3694	broad.mit.edu	37	2	161052754	161052754	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:161052754G>A	ENST00000283249.2	-	3	556	c.319C>T	c.(319-321)Caa>Taa	p.Q107*	ITGB6_ENST00000409872.1_Nonsense_Mutation_p.Q107*|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409967.2_Nonsense_Mutation_p.Q107*|ITGB6_ENST00000428609.2_Nonsense_Mutation_p.Q65*			P18564	ITB6_HUMAN	integrin, beta 6	107					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ATCAAGCTTTGAGGCGCAATC	0.383000													13	244					0	0	0.024245	0	0
AKAP9	10142	broad.mit.edu	37	7	91630469	91630469	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:91630469A>G	ENST00000359028.2	+	9	1499	c.1274A>G	c.(1273-1275)cAg>cGg	p.Q425R	AKAP9_ENST00000356239.3_Missense_Mutation_p.Q413R|AKAP9_ENST00000358100.2_Missense_Mutation_p.Q425R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	425	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAGACAGCCAGTTCGAAACT	0.393000			T	BRAF	papillary thyroid								32	86					0	0	0.045705	0	0
C1orf168	199920	broad.mit.edu	37	1	57258321	57258321	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:57258321G>C	ENST00000343433.6	-	2	245	c.165C>G	c.(163-165)ctC>ctG	p.L55L	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	55										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GGTTGGATGAGAGGGGTTTCC	0.473000													5	367					0	0	0.014758	0	0
NMUR1	10316	broad.mit.edu	37	2	232393432	232393432	+	Silent	SNP	G	G	A	rs139992213	by1000genomes	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:232393432G>A	ENST00000305141.4	-	2	433	c.300C>T	c.(298-300)ttC>ttT	p.F100F		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	100					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGGCCAGGCTGAAGAGGTAGT	0.627000													10	156					0	0	0.080935	0	0
TRIP10	9322	broad.mit.edu	37	19	6743836	6743836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:6743836C>T	ENST00000600428.1	+	7	953	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	TRIP10_ENST00000313244.9_Nonsense_Mutation_p.Q211*|TRIP10_ENST00000596758.1_Nonsense_Mutation_p.Q211*|TRIP10_ENST00000313285.8_Nonsense_Mutation_p.Q211*			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	211	Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						ACAGATGCCCCAGATATTCGA	0.498000													8	224					0	0	0.058154	0	0
MAP4	4134	broad.mit.edu	37	3	47894525	47894525	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:47894525G>C	ENST00000426837.2	-	21	6978	c.6891C>G	c.(6889-6891)atC>atG	p.I2297M	MAP4_ENST00000441748.2_Intron|MAP4_ENST00000420772.2_Intron|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000383737.4_Missense_Mutation_p.I811M|MAP4_ENST00000360240.6_Missense_Mutation_p.I1152M|MAP4_ENST00000264724.11_Missense_Mutation_p.I887M			P27816	MAP4_HUMAN	microtubule-associated protein 4	1152					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)		GTCATCATTAGATGCCTGGAA	0.502000													6	148					0	0	0.029380	0	0
AKAP9	10142	broad.mit.edu	37	7	91726995	91726995	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:91726995G>C	ENST00000359028.2	+	42	10731	c.10506G>C	c.(10504-10506)ttG>ttC	p.L3502F	AKAP9_ENST00000356239.3_Missense_Mutation_p.L3498F|AKAP9_ENST00000358100.2_Missense_Mutation_p.L3448F			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3502					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACGCTAAATTGATTGAAATGA	0.393000			T	BRAF	papillary thyroid								5	166					0	0	0.014758	0	0
PNLIP	5406	broad.mit.edu	37	10	118306823	118306823	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:118306823G>A	ENST00000369221.2	+	3	92	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	22					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AGTTTGCTACGAAAGACTCGG	0.423000													6	141					0	0	0.021553	0	0
CCDC85A	114800	broad.mit.edu	37	2	56599513	56599513	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:56599513A>G	ENST00000407595.2	+	4	1854	c.1352A>G	c.(1351-1353)aAc>aGc	p.N451S	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	451										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCAACTAGAAACAGCTCAAAT	0.502000													7	10					0	0	0.038147	0	0
CPA3	1359	broad.mit.edu	37	3	148583121	148583121	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:148583121G>C	ENST00000296046.3	+	1	79	c.27G>C	c.(25-27)ttG>ttC	p.L9F	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	9					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTGTGGGTTTGATTGCTACCA	0.463000													7	160					0	0	0.038147	0	0
RCBTB1	55213	broad.mit.edu	37	13	50125565	50125565	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:50125565C>T	ENST00000378302.2	-	8	1011	c.751G>A	c.(751-753)Gag>Aag	p.E251K	RCBTB1_ENST00000258646.3_Missense_Mutation_p.E251K|RCBTB1_ENST00000546015.1_Missense_Mutation_p.E251K	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	251					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		AGCAAGCCCTCATCTGTTAGT	0.473000													4	115					0	0	0.009096	0	0
MRPS9	64965	broad.mit.edu	37	2	105665724	105665724	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:105665724G>A	ENST00000258455.3	+	2	341	c.231G>A	c.(229-231)caG>caA	p.Q77Q		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	77					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TTAAAAAGCAGATTGAAGAGT	0.348000													7	99					0	0	0.029380	0	0
POLR3A	11128	broad.mit.edu	37	10	79737319	79737319	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:79737319G>A	ENST00000372371.3	-	31	4227	c.4090C>T	c.(4090-4092)Cac>Tac	p.H1364Y		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1364					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCAGCCTTGTGAAGCAGCTTG	0.512000													9	175					0	0	0.047766	0	0
SVEP1	79987	broad.mit.edu	37	9	113275356	113275356	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:113275356C>T	ENST00000401783.2	-	5	1489	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.E385K|SVEP1_ENST00000374461.1_Missense_Mutation_p.E362K|SVEP1_ENST00000374469.1_Missense_Mutation_p.E362K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	385	Sushi 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TAACCATTTTCGGGAGGCTTC	0.403000													14	62					0	0	0.024245	0	0
APBB2	323	broad.mit.edu	37	4	41016054	41016054	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:41016054G>A	ENST00000295974.8	-	6	1010	c.381C>T	c.(379-381)gtC>gtT	p.V127V	APBB2_ENST00000506352.1_Silent_p.V127V|APBB2_ENST00000513140.1_Silent_p.V127V|APBB2_ENST00000508593.1_Silent_p.V127V	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	127					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TTATGTTGATGACTGCAGTGG	0.527000													6	175					0	0	0.021553	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854526	18854526	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:18854526G>A	ENST00000538330.1	-	5	653	c.272C>T	c.(271-273)tCa>tTa	p.S91L	PLCZ1_ENST00000266505.7_Intron|PLCZ1_ENST00000541695.1_Intron|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000542762.1_Intron|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000447925.2_Intron			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	317					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CAATACTTCTGATTCTTTGAA	0.458000													4	122					0	0	0.009096	0	0
TMEM196	256130	broad.mit.edu	37	7	19765224	19765224	+	Silent	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:19765224G>T	ENST00000405844.1	-	3	1067	c.372C>A	c.(370-372)ctC>ctA	p.L124L	TMEM196_ENST00000493519.1_Silent_p.L56L|TMEM196_ENST00000405764.3_Silent_p.L124L|TMEM196_ENST00000433641.1_Silent_p.L56L|TMEM196_ENST00000422233.1_Silent_p.L56L			Q5HYL7	TM196_HUMAN	transmembrane protein 196	130						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						GTCGACAAGTGAGCCAGGAAG	0.512000													6	107					0.00116845	0.00119739	0.021553	1	0
MYL9	10398	broad.mit.edu	37	20	35173423	35173423	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:35173423G>C	ENST00000279022.2	+	2	240	c.136G>C	c.(136-138)Gat>Cat	p.D46H	RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Missense_Mutation_p.D46H|RP5-977B1.7_ENST00000439595.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	46	EF-hand 1.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCAGAACCGTGATGGCTTCAT	0.572000													5	158					0	0	0.014758	0	0
CILP2	148113	broad.mit.edu	37	19	19656685	19656685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:19656685C>T	ENST00000586018.1	+	8	3451	c.3349C>T	c.(3349-3351)Cga>Tga	p.R1117*	CILP2_ENST00000291495.4_Nonsense_Mutation_p.R1111*			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1111						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACCGGCCGGACGACCCAGCCT	0.672000													5	16					0	0	0.047766	0	0
DYRK4	8798	broad.mit.edu	37	12	4705861	4705861	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:4705861C>T	ENST00000540757.2	+	6	686	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	DYRK4_ENST00000543431.1_Missense_Mutation_p.R176C|DYRK4_ENST00000010132.5_Missense_Mutation_p.R176C	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	176	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R578C(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTTCTACTTTCGCAATCACTT	0.443000													42	124					0	0	0.045515	0	0
ZFAND3	60685	broad.mit.edu	37	6	37897761	37897761	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:37897761C>G	ENST00000287218.4	+	2	545	c.98C>G	c.(97-99)tCc>tGc	p.S33C	ZFAND3_ENST00000373391.2_Missense_Mutation_p.S33C	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	33							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						AATCTCTGTTCCAAATGCTTT	0.303000													6	237					0	0	0.038147	0	0
MAG	4099	broad.mit.edu	37	19	35786781	35786781	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:35786781C>G	ENST00000361922.4	+	4	462	c.312C>G	c.(310-312)ctC>ctG	p.L104L	MAG_ENST00000537831.2_Silent_p.L79L|MAG_ENST00000392213.3_Silent_p.L104L|MAG_ENST00000597035.1_Intron	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	104	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCTCCTGCTCAGCAACGTCA	0.642000													10	562					0	0	0.058154	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316406	30316406	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:30316406C>G	ENST00000375377.1	-	3	2772	c.2671G>C	c.(2671-2673)Gag>Cag	p.E891Q		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	891										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGCTGTGGCTCAACCCTCATT	0.622000													4	166					0	0	0.014758	0	0
CLSPN	63967	broad.mit.edu	37	1	36226454	36226454	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:36226454C>T	ENST00000251195.5	-	8	1164	c.1068G>A	c.(1066-1068)atG>atA	p.M356I	CLSPN_ENST00000373220.3_Missense_Mutation_p.M356I|CLSPN_ENST00000318121.3_Missense_Mutation_p.M356I|CLSPN_ENST00000520551.1_Missense_Mutation_p.M356I			Q9HAW4	CLSPN_HUMAN	claspin	356					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GATCACTGTTCATTTCAGTAG	0.383000													6	138					0	0	0.029380	0	0
TFIP11	24144	broad.mit.edu	37	22	26894918	26894918	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:26894918G>A	ENST00000407690.1	-	10	1636	c.1353C>T	c.(1351-1353)atC>atT	p.I451I	TFIP11_ENST00000407431.1_Silent_p.I451I|TFIP11_ENST00000407148.1_Silent_p.I451I|TFIP11_ENST00000405938.1_Silent_p.I451I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	451					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						ACTTAGAGATGATCTCGGTGC	0.552000													19	333					0	0	0.055883	0	0
NLRP1	22861	broad.mit.edu	37	17	5462809	5462809	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:5462809C>G	ENST00000345221.3	-	4	1761	c.1207G>C	c.(1207-1209)Gag>Cag	p.E403Q	NLRP1_ENST00000269280.4_Missense_Mutation_p.E403Q|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.E403Q|NLRP1_ENST00000262467.5_Missense_Mutation_p.E403Q|NLRP1_ENST00000577119.1_Missense_Mutation_p.E403Q|NLRP1_ENST00000572272.1_Missense_Mutation_p.E403Q	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	403	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGCAGCCGCTCTGGCCTAGAC	0.597000													4	98					0	0	0.014758	0	0
BLOC1S6	26258	broad.mit.edu	37	15	45898619	45898619	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:45898619G>C	ENST00000220531.3	+	5	747	c.426G>C	c.(424-426)aaG>aaC	p.K142N	RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000565323.1_Missense_Mutation_p.K147N|BLOC1S6_ENST00000567740.1_3'UTR|BLOC1S6_ENST00000567461.1_Missense_Mutation_p.K45N|BLOC1S6_ENST00000562384.1_Missense_Mutation_p.K45N|BLOC1S6_ENST00000568816.1_Missense_Mutation_p.K45N|BLOC1S6_ENST00000565216.1_Missense_Mutation_p.K101N|BLOC1S6_ENST00000565409.1_Missense_Mutation_p.K45N|BLOC1S6_ENST00000564765.1_Missense_Mutation_p.K16N	NM_012388.2	NP_036520.1			biogenesis of lysosomal organelles complex-1, subunit 6, pallidin																		TGCAGCAGAAGAGGCAAAAAG	0.383000													7	183					0	0	0.029380	0	0
SPANXN1	494118	broad.mit.edu	37	X	144329145	144329145	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chrX:144329145G>C	ENST00000370493.3	+	1	798	c.39G>C	c.(37-39)agG>agC	p.R13S		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	13										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGAAGAGGAAGAGCCCCT	0.463000													3	166					0	0	0.004672	0	0
PROC	5624	broad.mit.edu	37	2	128186312	128186312	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:128186312G>A	ENST00000453608.2	+	8	1349	c.1341G>A	c.(1339-1341)ggG>ggA	p.G447G	PROC_ENST00000234071.3_Silent_p.G392G|PROC_ENST00000409048.1_Silent_p.G426G|PROC_ENST00000422777.3_Silent_p.G392G			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	392	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GCATCCTCGGGGACCGGCAGG	0.632000													8	205					0	0	0.069234	0	0
HOXA4	3201	broad.mit.edu	37	7	27169017	27169017	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:27169017G>C	ENST00000360046.5	-	2	855	c.790C>G	c.(790-792)Cag>Gag	p.Q264E	HOXA3_ENST00000467897.2_5'UTR|HOXA4_ENST00000428284.2_Missense_Mutation_p.Q264E|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	264						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CTCCGGTTCTGAAACCAGATC	0.582000													11	245					0	0	0.069234	0	0
TFIP11	24144	broad.mit.edu	37	22	26895394	26895394	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:26895394G>A	ENST00000407690.1	-	9	1288	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	TFIP11_ENST00000407431.1_Silent_p.I335I|TFIP11_ENST00000407148.1_Silent_p.I335I|TFIP11_ENST00000405938.1_Silent_p.I335I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	335					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CATTCTGGATGATCTCCTGCT	0.622000													5	216					0	0	0.014758	0	0
SYCP2L	221711	broad.mit.edu	37	6	10911091	10911091	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:10911091G>A	ENST00000283141.6	+	12	1203	c.907G>A	c.(907-909)Gat>Aat	p.D303N	SYCP2L_ENST00000543878.1_Missense_Mutation_p.D144N|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	303						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TGCTTTTGCTGATGAGCATGA	0.408000													126	225					0	0	0.048971	0	0
BNC2	54796	broad.mit.edu	37	9	16435892	16435892	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:16435892G>A	ENST00000380672.4	-	6	2357	c.2300C>T	c.(2299-2301)tCt>tTt	p.S767F	BNC2_ENST00000545497.1_Missense_Mutation_p.S672F|BNC2_ENST00000380666.2_Missense_Mutation_p.S767F|BNC2_ENST00000380667.2_Missense_Mutation_p.S700F	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	767					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTCCTGGTGAGAGGGCTCACT	0.502000													4	99					0	0	0.021553	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158465	26158465	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:26158465A>T	ENST00000289316.2	+	1	92	c.68A>T	c.(67-69)cAg>cTg	p.Q23L	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.Q23L	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	23					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACTAAGGCTCAGAAGAAGGAC	0.532000													11	303					0	0	0.069234	0	0
PDP1	54704	broad.mit.edu	37	8	94934633	94934633	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:94934633C>T	ENST00000396200.3	+	3	697	c.421C>T	c.(421-423)Cag>Tag	p.Q141*	PDP1_ENST00000297598.4_Nonsense_Mutation_p.Q116*|PDP1_ENST00000520728.1_Nonsense_Mutation_p.Q116*|PDP1_ENST00000517764.1_Nonsense_Mutation_p.Q116*	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	116					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TGACAGCAATCAGCTGCCTGC	0.463000													11	318					0	0	0.069234	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37962692	37962692	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:37962692C>G	ENST00000249014.4	+	2	756	c.336C>G	c.(334-336)atC>atG	p.I112M		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	112					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CACCGGCCATCTCCCCCATCA	0.682000													5	189					0	0	0.014758	0	0
IFNE	338376	broad.mit.edu	37	9	21481504	21481504	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:21481504G>C	ENST00000448696.3	-	1	808	c.190C>G	c.(190-192)Cag>Gag	p.Q64E	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	64					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						AAAGACTTCTGAGGAAGCAGA	0.418000													3	118					0	0	0.004672	0	0
FAM208A	23272	broad.mit.edu	37	3	56667379	56667379	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:56667379G>C	ENST00000431842.2	-	11	3053	c.2129C>G	c.(2128-2130)tCt>tGt	p.S710C	FAM208A_ENST00000493960.2_Missense_Mutation_p.S1147C|FAM208A_ENST00000355628.5_Missense_Mutation_p.S1086C	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1147										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CTGCTCATCAGAGTTGGTATC	0.423000													20	309					0	0	0.049695	0	0
NRCAM	4897	broad.mit.edu	37	7	107866759	107866759	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:107866759G>T	ENST00000379028.3	-	9	1084	c.614C>A	c.(613-615)tCc>tAc	p.S205Y	NRCAM_ENST00000379024.4_Missense_Mutation_p.S205Y|NRCAM_ENST00000413765.2_Missense_Mutation_p.S205Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.S205Y|NRCAM_ENST00000425651.2_Missense_Mutation_p.S205Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.S199Y			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	205	Ig-like 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GAGGACATTGGAAAAATAAAG	0.413000													8	279					2.17888e-05	2.26345e-05	0.058154	1	0
ZNF644	84146	broad.mit.edu	37	1	91403321	91403321	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:91403321G>A	ENST00000370440.1	-	4	3626	c.3409C>T	c.(3409-3411)Ctg>Ttg	p.L1137L	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Silent_p.L1137L			Q9H582	ZN644_HUMAN	zinc finger protein 644	1137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GACACTGACAGAGCTTCAGTC	0.383000													6	473					0	0	0.021553	0	0
LONP1	9361	broad.mit.edu	37	19	5711832	5711832	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:5711832C>G	ENST00000360614.3	-	4	977	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	LONP1_ENST00000540670.2_Missense_Mutation_p.E78Q|LONP1_ENST00000585374.1_Missense_Mutation_p.E160Q|LONP1_ENST00000593119.1_Missense_Mutation_p.E210Q|LONP1_ENST00000590729.1_Missense_Mutation_p.E160Q	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	274	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTCTCTACCTCCACCATGAGC	0.682000													8	271					0	0	0.069234	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151204833	151204833	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:151204833G>A	ENST00000409426.1	+	5	887	c.442G>A	c.(442-444)Gat>Aat	p.D148N	PIP5K1A_ENST00000368888.4_Missense_Mutation_p.D160N|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.D147N|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.D148N			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	160	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCGGCCCGATGATTACTTGGT	0.498000													9	284					0	0	0.058154	0	0
ARSH	347527	broad.mit.edu	37	X	2947379	2947379	+	Missense_Mutation	SNP	C	C	G	rs145847839	byFrequency	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chrX:2947379C>G	ENST00000381130.2	+	8	1291	c.1291C>G	c.(1291-1293)Ctg>Gtg	p.L431V		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	431						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGGGTCTATCTGCACACGGT	0.572000													9	97					0	0	0.058154	0	0
KHDC1	80759	broad.mit.edu	37	6	73952217	73952217	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:73952217G>A	ENST00000423730.3	-	2	459	c.24C>T	c.(22-24)ctC>ctT	p.L8L	KHDC1_ENST00000370384.3_Silent_p.L81L|KHDC1_ENST00000257765.5_Silent_p.L8L																							GCTTCTTGCTGAGAGCACTCG	0.527000													11	229					0	0	0.093190	0	0
SACS	26278	broad.mit.edu	37	13	23906424	23906424	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:23906424G>C	ENST00000382298.3	-	10	12179	c.11591C>G	c.(11590-11592)tCt>tGt	p.S3864C	SACS_ENST00000382292.3_Missense_Mutation_p.S3864C|SACS_ENST00000402364.1_Missense_Mutation_p.S3114C	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3864					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTGCCCTCAGAATTTTTAAA	0.373000													13	231					0	0	0.093190	0	0
DNAAF1	123872	broad.mit.edu	37	16	84211375	84211375	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:84211375C>G	ENST00000378553.5	+	12	2230	c.2106C>G	c.(2104-2106)gtC>gtG	p.V702V	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	702					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	p.V702V(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGACGTGTGTCGGAGTTGCCC	0.577000													106	154					0	0	0.048971	0	0
QRICH2	84074	broad.mit.edu	37	17	74287166	74287166	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:74287166C>T	ENST00000262765.5	-	4	3323	c.3144G>A	c.(3142-3144)atG>atA	p.M1048I		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1048							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCAGATCCTTCATACTCTCCT	0.532000													8	195					0	0	0.058154	0	0
C9orf171	389799	broad.mit.edu	37	9	135357756	135357756	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:135357756G>A	ENST00000343036.2	+	2	303	c.255G>A	c.(253-255)caG>caA	p.Q85Q	C9orf171_ENST00000393216.2_Intron|C9orf171_ENST00000393215.3_Intron	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	85										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CAGCGGTGCAGAAAGTTATTC	0.493000													10	172					0	0	0.069234	0	0
MIB1	57534	broad.mit.edu	37	18	19378062	19378062	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:19378062C>T	ENST00000261537.6	+	8	1374	c.1110C>T	c.(1108-1110)ggC>ggT	p.G370G	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	370					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GTAAAGTTGGCCGAGTACAAC	0.363000													5	357					0	0	0.021553	0	0
PHF7	51533	broad.mit.edu	37	3	52446916	52446916	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:52446916G>C	ENST00000327906.3	+	2	681	c.21G>C	c.(19-21)aaG>aaC	p.K7N	PHF7_ENST00000347025.2_Missense_Mutation_p.K7N|PHF7_ENST00000482327.1_3'UTR|PHF7_ENST00000478707.1_Missense_Mutation_p.K7N	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	7						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TAAAAGAAAAGAAGGAATGCC	0.413000													3	31					0	0	0.004672	0	0
PRKD3	23683	broad.mit.edu	37	2	37520348	37520348	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:37520348C>T	ENST00000379066.1	-	3	1117	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	PRKD3_ENST00000234179.2_Missense_Mutation_p.E119K			O94806	KPCD3_HUMAN	protein kinase D3	119					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AAAATGTTTTCTGAGTTCATG	0.398000													79	106					0	0	0.048971	0	0
CELSR1	9620	broad.mit.edu	37	22	46795748	46795748	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:46795748C>A	ENST00000262738.3	-	10	5277	c.5278G>T	c.(5278-5280)Gag>Tag	p.E1760*		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1760	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATCACGGACTCCACATCGGAG	0.562000													6	141					0.0293803	0.0299062	0.029380	1	0
TAS1R1	80835	broad.mit.edu	37	1	6638984	6638985	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:6638984_6638985insT	ENST00000333172.6	+	6	2059_2060	c.1866_1867insT	c.(1864-1869)ttttggfs	p.W623fs	TAS1R1_ENST00000351136.3_Frame_Shift_Ins_p.W369fs|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	623					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TCTATGGCTTCTTTGGGGAACC	0.599													22	85	---	---	---	---					
ADC	113451	broad.mit.edu	37	1	33583674	33583675	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:33583674_33583675insC	ENST00000294517.6	+	11	1788_1789	c.1201_1202insC	c.(1201-1203)ccafs	p.P401fs	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Frame_Shift_Ins_p.P421fs|ADC_ENST00000373443.3_Frame_Shift_Ins_p.P401fs|ADC_ENST00000398167.1_Frame_Shift_Ins_p.P421fs	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	401					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CTTTTGGGGGACCCAGGCCTGC	0.624													25	108	---	---	---	---					
LOC100506457	100506457	broad.mit.edu	37	2	12598839	12598840	+	RNA	DEL	TG	TG	-	rs57324205		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:12598839_12598840delTG	ENST00000412294.1	+	0	412																											accccatcaatgtgtgtgtgtg	0.426													2	4	---	---	---	---					
CNKSR3	154043	broad.mit.edu	37	6	154831247	154831248	+	Translation_Start_Site	INS	-	-	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:154831247_154831248insG	ENST00000607772.1	-	0	545_546					NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3						negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CACGGGTTCCATGGTAAACCGC	0.683													81	241	---	---	---	---					
RP11-1082L8.3	0	broad.mit.edu	37	8	125850042	125850043	+	RNA	INS	-	-	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:125850042_125850043insT	ENST00000533496.1	-	0	293																											tccttccttccttccttccttc	0.386													4	6	---	---	---	---					
IFFO1	25900	broad.mit.edu	37	12	6649704	6649706	+	In_Frame_Del	DEL	GGC	GGC	-	rs144019095		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:6649704_6649706delGGC	ENST00000436152.2	-	11	1273_1275	c.714_716delGCC	c.(712-717)cca>cc	p.PP238del	IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del|IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del|IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	541						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCCTCGCTTGGCGGCGGCGGCG	0.601													7	260	---	---	---	---					
OR6C65	403282	broad.mit.edu	37	12	55794772	55794773	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:55794772_55794773insT	ENST00000379665.2	+	1	559_560	c.460_461insT	c.(460-462)tttfs	p.F154fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTTTCTCATTATTTTTCCCCCC	0.436													31	538	---	---	---	---					
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:72057256_72057258delGCT	ENST00000378743.3	-	1	491_493	c.133_135delAGC	c.(133-135)del	p.S45del	ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	481	---	---	---	---					
FAM101A	144347	broad.mit.edu	37	12	124719639	124719641	+	RNA	DEL	CCT	CCT	-			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:124719639_124719641delCCT	ENST00000540762.1	+	0	444																											accaccatcacctccatcatcac	0.488													3	4	---	---	---	---					
RPS6KA5	9252	broad.mit.edu	37	14	91366509	91366509	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:91366509delC	ENST00000261991.3	-	11	1495	c.1322delG	c.(1321-1323)cafs	p.R441fs	RPS6KA5_ENST00000418736.2_Frame_Shift_Del_p.R441fs|RPS6KA5_ENST00000536315.2_Frame_Shift_Del_p.R362fs	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	441	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CACACACTTTCGACAAATTGA	0.333													9	136	---	---	---	---					
HCN4	10021	broad.mit.edu	37	15	73660493	73660494	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:73660493_73660494insG	ENST00000261917.3	-	1	1111_1112	c.118_119insC	c.(118-120)ccafs	p.P40fs		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	40					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGGGTCTTGGCGGCCCCCGGCC	0.752													4	4	---	---	---	---					
RP11-382A20.4	0	broad.mit.edu	37	15	84063040	84063041	+	RNA	INS	-	-	AGGG	rs71464540		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:84063040_84063041insAGGG	ENST00000565495.1	+	0	264																											gggagggagggaggaaggatgg	0.554													3	4	---	---	---	---					
RNMTL1	55178	broad.mit.edu	37	17	686565	686566	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:686565_686566insG	ENST00000304478.4	+	2	663_664	c.557_558insG	c.(556-558)aggfs	p.R186fs		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	186					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		CAAGGAATAATGGGTTAGTGAT	0.475													11	39	---	---	---	---					
SAT2	112483	broad.mit.edu	37	17	7529794	7529795	+	Frame_Shift_Ins	INS	-	-	TCCT			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:7529794_7529795insTCCT	ENST00000269298.5	-	6	702_703	c.483_484insAGGA	c.(481-486)ggaggcfs	p.-162fs	SHBG_ENST00000576728.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575314.1_Intron|SAT2_ENST00000380466.2_5'UTR|SAT2_ENST00000573566.1_Frame_Shift_Ins_p.-128fs|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000570547.1_Intron	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2							cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	CTCGTTGCCTCTCCTTGAAAGC	0.545													16	288	---	---	---	---					
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(22-27)ccgcgg>ccGGCgcgg	p.8_9PR>PAR		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	8					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772													5	8	---	---	---	---					
LRFN3	79414	broad.mit.edu	37	19	36431036	36431037	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:36431036_36431037insC	ENST00000588831.1	+	3	1763_1764	c.709_710insC	c.(709-711)gccfs	p.A237fs	LRFN3_ENST00000246529.3_Frame_Shift_Ins_p.A237fs			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	237					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCCCGGGGCTCGCCCGCCTCT	0.713													8	226	---	---	---	---