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
LUM	4060	broad.mit.edu	37	12	91502247	91502247	+	Silent	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr12:91502247C>T	ENST00000266718.4	-	2	964	c.510G>A	c.(508-510)cgG>cgA	p.R170R	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	170					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.R170R(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CCTCTTTCAGCCGATTGTGCT	0.448000													5	76					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173931109	173931109	+	Silent	SNP	G	G	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:173931109G>A	ENST00000367696.2	-	12	2307	c.1956C>T	c.(1954-1956)aaC>aaT	p.N652N	RC3H1_ENST00000367694.2_Silent_p.N652N|RC3H1_ENST00000258349.4_Silent_p.N652N			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	652	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	p.N652N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CATACTGAGAGTTTACAACAC	0.512000													5	81					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222307631	222307631	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr2:222307631C>A	ENST00000281821.2	-	11	2033	c.1992G>T	c.(1990-1992)agG>agT	p.R664S	EPHA4_ENST00000409938.1_Missense_Mutation_p.R664S|EPHA4_ENST00000409854.1_Missense_Mutation_p.R664S|EPHA4_ENST00000392071.4_Missense_Mutation_p.R613S	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	664	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R664S(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGAAGTCTCTCCTCTGTTTGT	0.498000													7	98					0.00307968	0.00327678	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57771017	57771017	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr20:57771017C>T	ENST00000371030.2	+	2	3832	c.3832C>T	c.(3832-3834)Cgt>Tgt	p.R1278C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1278						intracellular	nucleic acid binding|zinc ion binding	p.R1278C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAAGATGTCTCGTGGGAACAG	0.498000													14	104					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70461611	70461611	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr18:70461611C>G	ENST00000327305.6	-	5	1155	c.498G>C	c.(496-498)ttG>ttC	p.L166F	NETO1_ENST00000299430.2_Missense_Mutation_p.L165F|NETO1_ENST00000583169.1_Missense_Mutation_p.L166F	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	166					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.L166F(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GTAATGGTTTCAAAGCTCCAA	0.303000													16	82					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82834850	82834850	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr5:82834850G>T	ENST00000265077.3	+	8	6593	c.6028G>T	c.(6028-6030)Ggc>Tgc	p.G2010C	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.G1023C|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2010	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.G2010C(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTCAGCTGAGGGCTCAGGTGA	0.507000													5	29					0.0215528	0.0218818	1	1	0
RXRG	6258	broad.mit.edu	37	1	165389184	165389184	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:165389184C>T	ENST00000359842.5	-	3	667	c.365G>A	c.(364-366)gGa>gAa	p.G122E	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	122	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.G122E(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GTTCATGTTTCCAATCCCGGG	0.493000													16	45					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39281778	39281778	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr2:39281778T>A	ENST00000426016.1	-	6	783	c.697A>T	c.(697-699)Aat>Tat	p.N233Y	SOS1_ENST00000402219.2_Missense_Mutation_p.N233Y|SOS1_ENST00000395038.2_Missense_Mutation_p.N233Y|SOS1_ENST00000428721.2_Missense_Mutation_p.N176Y			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	233	DH.				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	p.N233Y(5)		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)				AATTTTGAATTGGAGACAAAG	0.299000									Noonan syndrome				4	52					0	0	1	0	0
DEFB123	245936	broad.mit.edu	37	20	30037860	30037860	+	Silent	SNP	T	T	C			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr20:30037860T>C	ENST00000376309.3	+	2	267	c.87T>C	c.(85-87)taT>taC	p.Y29Y		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	29					defense response to bacterium	extracellular region		p.Y29*(1)|p.Y29Y(1)		kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GGAATCTTTATGGCAAATGCC	0.428000													14	92					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090307	238090307	+	RNA	SNP	G	G	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:238090307G>T	ENST00000450451.1	+	0	1813					NR_027247.2																						ACAAGGCCCAGAGCAAGCCGG	0.587000													6	27					3.59834e-05	4.12568e-05	1	1	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907473	12907473	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:12907473G>C	ENST00000317869.6	-	2	895	c.670C>G	c.(670-672)Cag>Gag	p.Q224E		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.Q224E(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CTACTGCTCTGCTCCTCTTCT	0.463000													17	140					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10602310	10602310	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr19:10602310C>A	ENST00000171111.5	-	3	1815	c.1268G>T	c.(1267-1269)gGc>gTc	p.G423V	KEAP1_ENST00000393623.2_Missense_Mutation_p.G423V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.G423V(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ATAGATGTGGCCATCGATGAC	0.667000													4	20					1	1	1	1	0
KIDINS220	57498	broad.mit.edu	37	2	8890421	8890421	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr2:8890421A>T	ENST00000256707.3	-	24	3416	c.3235T>A	c.(3235-3237)Tac>Aac	p.Y1079N	KIDINS220_ENST00000473731.1_Missense_Mutation_p.Y1079N|KIDINS220_ENST00000427284.1_Missense_Mutation_p.Y1079N|KIDINS220_ENST00000418530.1_Missense_Mutation_p.Y1037N	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1079					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.Y1079N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCGGGGGGTACGCCAGTCCT	0.562000													13	43					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74810876	74810876	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr10:74810876C>A	ENST00000412021.2	-	8	1168	c.835G>T	c.(835-837)Gct>Tct	p.A279S	P4HA1_ENST00000373008.2_Missense_Mutation_p.A279S|P4HA1_ENST00000263556.3_Missense_Mutation_p.A279S|P4HA1_ENST00000307116.2_Missense_Mutation_p.A279S|P4HA1_ENST00000394890.2_Missense_Mutation_p.A279S|P4HA1_ENST00000440381.1_Missense_Mutation_p.A279S	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	279						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	p.A279S(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TAATCCACAGCAACCCCTTTT	0.388000													34	184					4.92203e-23	6.96414e-23	1	1	0
TIMM8A	1678	broad.mit.edu	37	X	100601582	100601582	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chrX:100601582C>T	ENST00000372902.3	-	2	730	c.199G>A	c.(199-201)Gtt>Att	p.V67I		NM_004085.3	NP_004076.1	O60220	TIM8A_HUMAN	translocase of inner mitochondrial membrane 8 homolog A (yeast)	67					nervous system development|protein import into mitochondrial inner membrane|transmembrane transport	mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex	protein binding	p.V67I(1)		endometrium(1)|lung(1)	2						AAGCGCTCAACGCAGTTCACA	0.483000													31	123					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82835757	82835757	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr5:82835757G>T	ENST00000265077.3	+	8	7500	c.6935G>T	c.(6934-6936)gGa>gTa	p.G2312V	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.G1325V|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2312	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.G2312V(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAAGAAGTTGGACCACTCGTA	0.393000													11	48					9.70103e-10	1.26494e-09	1	1	0
ME3	10873	broad.mit.edu	37	11	86267641	86267641	+	Missense_Mutation	SNP	C	C	T	rs150824447	byFrequency	TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr11:86267641C>T	ENST00000543262.1	-	4	747	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Missense_Mutation_p.V141M|ME3_ENST00000393324.3_Missense_Mutation_p.V141M|ME3_ENST00000323418.6_Missense_Mutation_p.V79M	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	141					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	p.V141M(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GCCAGCCCCACGGTAGGCGTG	0.592000													5	29					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33246130	33246130	+	Silent	SNP	C	C	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr2:33246130C>A	ENST00000404816.2	+	3	1073	c.720C>A	c.(718-720)tcC>tcA	p.S240S	LTBP1_ENST00000354476.3_Silent_p.S240S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	240					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.S240S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGGCTGCTTCCTCGTGGGGCC	0.557000													16	149					1.5739e-10	2.09328e-10	1	1	0
KCNK2	3776	broad.mit.edu	37	1	215259895	215259895	+	Silent	SNP	C	C	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:215259895C>A	ENST00000444842.2	+	2	381	c.231C>A	c.(229-231)gcC>gcA	p.A77A	KCNK2_ENST00000391894.2_Silent_p.A62A|KCNK2_ENST00000391895.2_Silent_p.A73A	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	77							outward rectifier potassium channel activity	p.A77A(1)|p.A62A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TCATCGGAGCCACCGTGTTCA	0.468000													12	69					6.40141e-05	7.27682e-05	1	1	0
THSD7B	80731	broad.mit.edu	37	2	138414680	138414680	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr2:138414680A>G	ENST00000409968.1	+	24	4503	c.4325A>G	c.(4324-4326)aAt>aGt	p.N1442S	THSD7B_ENST00000272643.3_Missense_Mutation_p.N1445S|THSD7B_ENST00000543459.1_Missense_Mutation_p.I277V|THSD7B_ENST00000413152.2_Missense_Mutation_p.N1414S					thrombospondin, type I, domain containing 7B									p.N1445S(1)|p.N1414S(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTTTGGAACAATAACGAACGA	0.413000													8	49					0	0	1	0	0
SPPL2A	84888	broad.mit.edu	37	15	51040396	51040396	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr15:51040396G>C	ENST00000261854.5	-	4	638	c.364C>G	c.(364-366)Cct>Gct	p.P122A	RP11-507J18.2_ENST00000558317.1_RNA	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	122	PA.					integral to membrane	aspartic-type endopeptidase activity	p.P122A(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CCTGAGGGAGGAAACTAAAAA	0.249000													3	9					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124998366	124998366	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr8:124998366T>C	ENST00000522917.1	+	12	1675	c.1469T>C	c.(1468-1470)aTg>aCg	p.M490T	FER1L6_ENST00000399018.1_Missense_Mutation_p.M490T|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	490						integral to membrane		p.M490T(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAAGCTACCATGATTGACCGG	0.358000													12	65					0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510030	77510030	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:77510030G>A	ENST00000477717.1	+	3	638	c.403G>A	c.(403-405)Gtg>Atg	p.V135M		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	135					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.V135M(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TGGGCGTGACGTGGGCAATCG	0.617000													10	62					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114326834	114326834	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr8:114326834C>T	ENST00000297405.5	-	2	611	c.367G>A	c.(367-369)Gat>Aat	p.D123N	CSMD3_ENST00000352409.3_Missense_Mutation_p.D123N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D83N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D123N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	123	CUB 1.					integral to membrane|plasma membrane		p.D83N(1)|p.D123N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGATGTCCATCATATAATGAT	0.328000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	54					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230895275	230895275	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:230895275G>A	ENST00000354537.1	+	3	383	c.301G>A	c.(301-303)Gcc>Acc	p.A101T	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.A101T|CAPN9_ENST00000366666.2_Intron	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	101	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.A101T(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CTGGCTATTAGCCGCCATCGC	0.478000													7	45					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488193	108488193	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr2:108488193C>A	ENST00000408999.3	+	20	3810	c.3733C>A	c.(3733-3735)Ccc>Acc	p.P1245T	RGPD4_ENST00000354986.4_Missense_Mutation_p.P1245T	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1245					intracellular transport		binding	p.P1245T(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAACACTGGGCCCACATTAGA	0.448000													14	291					2.31682e-05	2.70296e-05	1	1	0
MUC17	140453	broad.mit.edu	37	7	100680433	100680433	+	Silent	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr7:100680433C>T	ENST00000306151.4	+	3	5800	c.5736C>T	c.(5734-5736)gaC>gaT	p.D1912D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1912	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.D1912D(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTGCTGACGGTAGCAGCA	0.507000													10	201					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103061650	103061650	+	Splice_Site	SNP	A	A	G			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr2:103061650A>G	ENST00000264260.2	+	9	1511	c.920_splice	c.e9-1	p.I308_splice	IL18RAP_ENST00000409369.1_Splice_Site_p.I166_splice	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	308	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.I308V(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CTTTCTCAGTATTAAATCCAC	0.378000													6	30					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47942012	47942012	+	Silent	SNP	T	T	G			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr7:47942012T>G	ENST00000289672.2	-	13	2078	c.2028A>C	c.(2026-2028)ccA>ccC	p.P676P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	676	REJ.				cell-cell adhesion	integral to membrane		p.P676P(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCACCAGGGGTGGCTGGCAGG	0.552000													5	26					0	0	1	0	0
FOLR1	2348	broad.mit.edu	37	11	71906939	71906939	+	Splice_Site	SNP	A	A	C			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr11:71906939A>C	ENST00000393679.1	+	5	929		c.e5-1		FOLR1_ENST00000393681.2_Splice_Site|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Splice_Site|FOLR1_ENST00000312293.4_Splice_Site			P15328	FOLR1_HUMAN	folate receptor 1 (adult)						cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	p.?(1)		cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						TCCTCTCTACAGGGTTTAACA	0.517000													17	73					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575444	12575444	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr19:12575444C>A	ENST00000397732.3	-	4	1463	c.1292G>T	c.(1291-1293)tGt>tTt	p.C431F	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.C431F	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C431F(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						AGAACTGGAACAACTGAAGGC	0.423000													18	150					9.16793e-09	1.18382e-08	1	1	0
CSMD3	114788	broad.mit.edu	37	8	114326898	114326898	+	Silent	SNP	A	A	G			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr8:114326898A>G	ENST00000297405.5	-	2	547	c.303T>C	c.(301-303)aaT>aaC	p.N101N	CSMD3_ENST00000352409.3_Silent_p.N101N|CSMD3_ENST00000343508.3_Silent_p.N61N|CSMD3_ENST00000455883.2_Silent_p.N101N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	101	CUB 1.					integral to membrane|plasma membrane		p.N101N(1)|p.N61N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTGTATTCTATTTCGTTCTT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	104					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45246107	45246107	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr11:45246107G>T	ENST00000263765.4	+	8	1433	c.1184G>T	c.(1183-1185)gGg>gTg	p.G395V	PRDM11_ENST00000424263.2_Missense_Mutation_p.G361V|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000530656.1_Missense_Mutation_p.G395V			Q9NQV5	PRD11_HUMAN	PR domain containing 11	395								p.G395V(1)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CAGACCCAGGGGGAGGGGGAC	0.562000													25	110					4.72057e-08	5.97939e-08	1	1	0
RASGRF1	5923	broad.mit.edu	37	15	79288097	79288097	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr15:79288097C>A	ENST00000419573.3	-	21	3334	c.3060G>T	c.(3058-3060)gaG>gaT	p.E1020D	RASGRF1_ENST00000558480.2_Missense_Mutation_p.E1004D|RASGRF1_ENST00000394745.3_Missense_Mutation_p.E236D|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1022					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.E1020D(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCGTGATCTCCTCCAGCGTGA	0.627000													4	77					0.00909568	0.00945098	1	1	0
FFAR3	2865	broad.mit.edu	37	19	35849909	35849909	+	Silent	SNP	C	C	T	rs148149328		TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr19:35849909C>T	ENST00000327809.4	+	2	318	c.117C>T	c.(115-117)ttC>ttT	p.F39F	FFAR3_ENST00000594310.1_Silent_p.F39F	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	39						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.F39F(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGGTGGTCTTCGTGGGCAAGC	0.637000													9	96					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2908581	2908581	+	Silent	SNP	G	G	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr3:2908581G>T	ENST00000397461.1	+	7	984	c.600G>T	c.(598-600)gtG>gtT	p.V200V	CNTN4_ENST00000358480.3_5'UTR|CNTN4_ENST00000427331.1_Silent_p.V200V|CNTN4_ENST00000418658.1_Silent_p.V200V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	200	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.V200V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCAATACCGTGACAAACCACA	0.388000													7	60					0.00198382	0.0021451	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29624866	29624866	+	Silent	SNP	G	G	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr12:29624866G>T	ENST00000318184.5	-	16	1724	c.1725C>A	c.(1723-1725)atC>atA	p.I575I	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	575	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.I575I(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCCCTCCTGCGATTCTTCTGG	0.502000													6	7					0.00198382	0.0021451	1	1	0
ACTR10	55860	broad.mit.edu	37	14	58701086	58701086	+	Splice_Site	SNP	A	A	T	rs35928266		TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr14:58701086A>T	ENST00000254286.4	+	13	1152		c.e13-1		ACTR10_ENST00000554402.1_Splice_Site	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)							cytoplasm		p.?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						TTTGTCACACAGGGGCTATTT	0.353000													3	69					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75444672	75444672	+	Silent	SNP	A	A	C			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr12:75444672A>C	ENST00000549446.1	-	3	1793	c.1113T>G	c.(1111-1113)ctT>ctG	p.L371L	KCNC2_ENST00000393288.2_Silent_p.L371L|KCNC2_ENST00000540018.1_Silent_p.L371L|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000350228.2_Silent_p.L371L|KCNC2_ENST00000550433.1_Silent_p.L371L|KCNC2_ENST00000298972.1_Silent_p.L371L|KCNC2_ENST00000341669.3_Silent_p.L371L|KCNC2_ENST00000548513.1_Silent_p.L371L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	371					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.L371L(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GAGTATGTCCAAGCACCCTCA	0.438000													8	32					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46307439	46307439	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr20:46307439T>G	ENST00000359930.4	-	8	2025	c.1174A>C	c.(1174-1176)Acg>Ccg	p.T392P	SULF2_ENST00000467815.1_Missense_Mutation_p.T392P|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Missense_Mutation_p.T392P|SULF2_ENST00000484875.1_Missense_Mutation_p.T392P	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	392					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.T392P(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GGCCGCTCCGTGTCCAGCAGC	0.602000													24	126					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62941485	62941485	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:62941485G>A	ENST00000251157.5	-	45	5854	c.5821C>T	c.(5821-5823)Cgt>Tgt	p.R1941C	DOCK7_ENST00000340370.5_Missense_Mutation_p.R1921C|DOCK7_ENST00000489185.1_5'UTR	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1952	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	p.R1921C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CCATGGGCACGGCCATCTAAA	0.383000													25	108					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117093795	117093795	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr10:117093795G>C	ENST00000355044.3	+	19	3167	c.3041G>C	c.(3040-3042)tGc>tCc	p.C1014S	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1014	Laminin EGF-like 1.					integral to membrane	sugar binding	p.C1014S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCTTTAGCTTGCCAGTGTAAT	0.328000													3	42					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15714661	15714661	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr10:15714661G>T	ENST00000378076.3	-	7	1117	c.764C>A	c.(763-765)aCg>aAg	p.T255K		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	255					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.T255K(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGCCACTTCCGTCTGCTTTTC	0.418000													24	112					1.39806e-14	1.91692e-14	1	1	0
PRPF6	24148	broad.mit.edu	37	20	62664298	62664298	+	Silent	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr20:62664298C>T	ENST00000535781.1	+	20	2769	c.2658C>T	c.(2656-2658)atC>atT	p.I886I	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	926					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	p.I926I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					AGAAGAAGATCGGGGACATCC	0.632000													4	44					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7520955	7520955	+	Silent	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr5:7520955C>T	ENST00000338316.4	+	3	602	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	171					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.I171I(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCCACACCATCGTGCTTAGCG	0.572000													7	87					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr20:29625892T>C	ENST00000278882.3	+	5	516	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H|FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348000													3	73					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508507	106508507	+	Silent	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr7:106508507C>T	ENST00000359195.3	+	2	811	c.501C>T	c.(499-501)aaC>aaT	p.N167N	PIK3CG_ENST00000440650.2_Silent_p.N167N|PIK3CG_ENST00000496166.1_Silent_p.N167N	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	167					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.N167N(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACGTCAGCAACGTGCACGACG	0.667000													4	29					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6262815	6262815	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr11:6262815G>T	ENST00000379936.2	+	5	1187	c.1072G>T	c.(1072-1074)Gag>Tag	p.E358*	CNGA4_ENST00000533426.1_Nonsense_Mutation_p.E127*	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	358					response to stimulus|sensory perception of smell		cAMP binding	p.E358*(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCCTGCTGGAGGAGCTGGT	0.582000													10	68					0.00829132	0.00868303	1	1	0
SLC2A7	155184	broad.mit.edu	37	1	9064913	9064913	+	Silent	SNP	G	G	T	rs139989195		TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:9064913G>T	ENST00000400906.1	-	11	1217	c.1218C>A	c.(1216-1218)acC>acA	p.T406T		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	406						integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.T406T(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGAAGATCTCGGTCCTCACCA	0.657000													5	18					0.000602214	0.000667454	1	1	0
MGAM	8972	broad.mit.edu	37	7	141740570	141740570	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr7:141740570G>A	ENST00000475668.2	+	21	2476	c.2422G>A	c.(2422-2424)Gga>Aga	p.G808R	MGAM_ENST00000549489.2_Missense_Mutation_p.G808R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	808	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.G808R(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGAACTTCCTGGAGACAAAAT	0.488000													6	30					0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53994017	53994017	+	Silent	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr19:53994017C>T	ENST00000396403.4	+	4	659	c.531C>T	c.(529-531)tcC>tcT	p.S177S	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S177S(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TTTCAACATCCCAAAGAATTT	0.393000													26	116					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428126	10428126	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr17:10428126C>A	ENST00000245503.5	-	34	5303	c.4919G>T	c.(4918-4920)cGc>cTc	p.R1640L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1640L|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1640					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1640L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGCAGCCATGCGGTTGGCATG	0.512000													18	73					1.45105e-14	1.96928e-14	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168103381	168103381	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr2:168103381A>G	ENST00000409195.1	+	9	5568	c.5479A>G	c.(5479-5481)Aca>Gca	p.T1827A	XIRP2_ENST00000295237.9_Missense_Mutation_p.T1827A|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T1605A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1652					actin cytoskeleton organization	cell junction	actin binding	p.T1827A(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCCTCAGAGTACATTTGGTAA	0.408000													5	63					0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	803637	803637	+	Splice_Site	SNP	G	G	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr19:803637G>T	ENST00000356948.6	+	3	538		c.e3+1		PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Splice_Site|PTBP1_ENST00000349038.4_Splice_Site	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1						negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCTTCTGCAGGTAAGGCCGGG	0.547000													6	80					0.0293803	0.0296029	1	1	0
NPHS1	4868	broad.mit.edu	37	19	36322264	36322264	+	Missense_Mutation	SNP	C	C	A	rs115670171	by1000genomes	TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr19:36322264C>A	ENST00000378910.5	-	26	3320	c.3321G>T	c.(3319-3321)gaG>gaT	p.E1107D	NPHS1_ENST00000353632.6_Missense_Mutation_p.E1067D	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1107					cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.E1107D(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGACTCGGTCCTCTTCCGACC	0.587000													4	84					0.014758	0.0152156	1	1	0
ABCB7	22	broad.mit.edu	37	X	74288884	74288884	+	Silent	SNP	C	C	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chrX:74288884C>A	ENST00000253577.3	-	12	1644	c.1620G>T	c.(1618-1620)gtG>gtT	p.V540V	ABCB7_ENST00000373394.3_Silent_p.V539V|ABCB7_ENST00000339447.4_Silent_p.V499V|ABCB7_ENST00000534570.1_5'UTR	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	539	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	p.V540V(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TTTCCAGGCTCACATCTTGTA	0.398000													26	111					3.65163e-15	5.05903e-15	1	1	0
PLCL1	5334	broad.mit.edu	37	2	198948501	198948501	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr2:198948501G>A	ENST00000428675.1	+	2	658	c.260G>A	c.(259-261)tGt>tAt	p.C87Y		NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	87	Interaction with PPP1C.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.C87Y(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AACCAAAAATGTGGTGGAAGA	0.373000													4	28					0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785337	12785337	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:12785337G>A	ENST00000332530.3	+	3	443	c.217G>A	c.(217-219)Gca>Aca	p.A73T	AADACL3_ENST00000359318.5_Missense_Mutation_p.A143T	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	143							hydrolase activity	p.A73T(1)|p.A143T(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|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;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAATAGCCGCAGTGGTTTG	0.567000													9	88					0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17205774	17205774	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr21:17205774G>C	ENST00000285681.2	+	17	2470	c.2101G>C	c.(2101-2103)Gaa>Caa	p.E701Q	USP25_ENST00000285679.6_Missense_Mutation_p.E701Q|USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.E701Q			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	701					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E701Q(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AAAAGAACTAGAAGAATGGGA	0.413000													8	43					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50154766	50154766	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr3:50154766G>T	ENST00000347869.3	+	24	2451	c.2276G>T	c.(2275-2277)gGc>gTc	p.G759V	RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	759	G-patch.|Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	p.G759V(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGCGGGAAGGCTCTGGCTTG	0.547000													6	84					8.12818e-05	9.16143e-05	1	1	0
EIF3I	8668	broad.mit.edu	37	1	32694336	32694336	+	Silent	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:32694336C>T	ENST00000373586.1	+	8	720	c.648C>T	c.(646-648)gaC>gaT	p.D216D	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	216						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.D216D(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				AGCTTTTTGACTCCACAACTC	0.562000													14	321					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70881870	70881870	+	Silent	SNP	A	A	C			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr6:70881870A>C	ENST00000322773.4	+	41	2685	c.2583A>C	c.(2581-2583)gcA>gcC	p.A861A	COL19A1_ENST00000393344.1_Silent_p.A483A	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	861	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.A861A(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGCCTGGTGCAATGGGGTTGC	0.353000													8	28					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723355	142723355	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr7:142723355G>A	ENST00000350513.2	-	1	927	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R289W(2)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TTGTCATTCCGAAGAGTAAAG	0.448000													10	40					0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52567409	52567409	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr12:52567409T>G	ENST00000313234.5	-	5	903	c.806A>C	c.(805-807)gAg>gCg	p.E269A	KRT80_ENST00000394815.2_Missense_Mutation_p.E269A	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	269	Coil 2.|Rod.					keratin filament	structural molecule activity	p.E304A(1)|p.E269A(1)		endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TGCCTCGGCCTCCTCCAGGCT	0.657000													12	51					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45396782	45396782	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr5:45396782C>T	ENST00000303230.4	-	4	1099	c.1042G>A	c.(1042-1044)Gca>Aca	p.A348T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	348						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.A348T(2)|p.A348P(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTGAAGAGTGCGTATGAATAC	0.448000													11	73					0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105218098	105218098	+	Silent	SNP	T	T	G			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr10:105218098T>G	ENST00000329905.5	-	1	547	c.411A>C	c.(409-411)gcA>gcC	p.A137A	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	137						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding	p.A137A(1)		large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CGTTGCCCAGTGCGCTCACGG	0.701000													9	23					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95056618	95056618	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr14:95056618T>A	ENST00000329597.7	+	4	1070	c.860T>A	c.(859-861)cTg>cAg	p.L287Q	SERPINA5_ENST00000553780.1_Missense_Mutation_p.L287Q|SERPINA5_ENST00000554276.1_Missense_Mutation_p.L287Q|SERPINA5_ENST00000554866.1_Missense_Mutation_p.L287Q	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	287					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.L287Q(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GAGAAAACGCTGAGGAAGTGG	0.552000													6	9					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631937	156631937	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr4:156631937C>T	ENST00000296518.7	+	6	829	c.620C>T	c.(619-621)cCt>cTt	p.P207L	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P207L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P207L|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P207L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P207L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P207L|GUCY1A3_ENST00000393832.3_5'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	207					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.P207L(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TACTTCTTCCCTAAGAGAACC	0.478000													5	58					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23219500	23219500	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:23219500C>T	ENST00000400191.3	+	7	1570	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	EPHB2_ENST00000374630.3_Missense_Mutation_p.R518C|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Missense_Mutation_p.R518C|EPHB2_ENST00000374627.1_Missense_Mutation_p.R513C	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	518	Fibronectin type-III 2.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.R518C(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGGTTACGGGCGCTACAGCGG	0.587000													13	45					0	0	1	0	0
AQP12A	375318	broad.mit.edu	37	2	241631275	241631275	+	Translation_Start_Site	SNP	C	C	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr2:241631275C>A	ENST00000429564.1	+	0	8				AQP12A_ENST00000337801.4_De_novo_Start_OutOfFrame			Q8IXF9	AQ12A_HUMAN	aquaporin 12A							integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CCAGCCAGCTCCTGCTCTGTC	0.667000													24	73					3.6726e-16	5.14164e-16	1	1	0
MYRF	745	broad.mit.edu	37	11	61548502	61548502	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr11:61548502C>A	ENST00000278836.5	+	20	2653	c.2557C>A	c.(2557-2559)Ccc>Acc	p.P853T	MYRF_ENST00000389602.4_Missense_Mutation_p.P244T|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.P818T	NM_001127392.1	NP_001120864.1			myelin regulatory factor									p.P818T(1)									AGGCATACAGCCCTCTTTGCT	0.617000													14	37					1.49906e-05	1.78013e-05	1	1	0
RNF148	378925	broad.mit.edu	37	7	122342159	122342159	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr7:122342159T>A	ENST00000434824.1	-	1	862	c.646A>T	c.(646-648)Aga>Tga	p.R216*	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000334010.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	216						integral to membrane	zinc ion binding	p.R216*(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TTGGGCACTCTAGGTGTAAGT	0.448000													4	76					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104724	168104724	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr2:168104724C>G	ENST00000409195.1	+	9	6911	c.6822C>G	c.(6820-6822)atC>atG	p.I2274M	XIRP2_ENST00000295237.9_Missense_Mutation_p.I2274M|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.I2052M|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2099					actin cytoskeleton organization	cell junction	actin binding	p.I2274M(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAATCCAATCAACTTTAACC	0.418000													10	38					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132161641	132161641	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chrX:132161641T>C	ENST00000511190.1	-	6	1077	c.608A>G	c.(607-609)tAc>tGc	p.Y203C	USP26_ENST00000370832.1_Missense_Mutation_p.Y203C|USP26_ENST00000406273.1_Missense_Mutation_p.Y203C	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	203					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.Y203C(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GGATTTCTTGTATTCTACAGA	0.343000													17	55					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105890011	105890011	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr10:105890011C>T	ENST00000357060.3	-	38	4999	c.4884G>A	c.(4882-4884)atG>atA	p.M1628I	WDR96_ENST00000428666.1_Missense_Mutation_p.M1600I	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1628								p.M1628I(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCTGCTGTTGCATCATGTTTT	0.313000													11	48					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736241	12736241	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chrX:12736241G>T	ENST00000380682.1	+	16	3802	c.3296G>T	c.(3295-3297)gGt>gTt	p.G1099V		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1099					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.G1089V(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GCCACTGAAGGTGGGATGGCT	0.498000													18	84					2.35188e-11	3.1596e-11	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152615182	152615182	+	Silent	SNP	G	G	C			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr6:152615182G>C	ENST00000367255.5	-	94	18364	c.17763C>G	c.(17761-17763)tcC>tcG	p.S5921S	SYNE1_ENST00000356820.4_Silent_p.S445S|SYNE1_ENST00000448038.1_Silent_p.S5850S|SYNE1_ENST00000265368.4_Silent_p.S5921S|SYNE1_ENST00000341594.5_Silent_p.S5533S|SYNE1_ENST00000423061.1_Silent_p.S5850S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5921					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.S5921S(2)|p.S5850S(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAACTCCTGGGATGCGGATG	0.488000										HNSCC(10;0.0054)			14	37					0	0	1	0	0
DNAJB12	54788	broad.mit.edu	37	10	74114714	74114714	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr10:74114714A>C	ENST00000338820.3	-	1	193	c.44T>G	c.(43-45)gTg>gGg	p.V15G	DNAJB12_ENST00000394903.2_Missense_Mutation_p.V15G|DNAJB12_ENST00000444643.2_5'UTR	NM_001002762.2	NP_001002762.2	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	0					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						GGGCTGCGCCACCCGCCGGCG	0.662000													5	8					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123801796	123801796	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr12:123801796C>G	ENST00000420886.2	-	20	2906	c.2907G>C	c.(2905-2907)tgG>tgC	p.W969C	SBNO1_ENST00000602750.1_Missense_Mutation_p.W968C|SBNO1_ENST00000602398.1_Missense_Mutation_p.W969C|SBNO1_ENST00000267176.4_Missense_Mutation_p.W968C	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	969							ATP binding|DNA binding|hydrolase activity	p.W968C(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TATCAGCGCTCCAAGGTAATT	0.403000													15	58					0	0	1	0	0
ZNF177	7730	broad.mit.edu	37	19	9491816	9491816	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr19:9491816C>T	ENST00000434737.2	+	5	865	c.809C>T	c.(808-810)tCc>tTc	p.S270F	ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000343499.4_Intron|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000589262.1_Missense_Mutation_p.S270F|ZNF177_ENST00000602856.1_3'UTR			Q13360	ZN177_HUMAN	zinc finger protein 177	278					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S270F(1)|p.?(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GACCCTTTGTCCCTTCAGAAC	0.433000													5	51					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574075	28574075	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr8:28574075G>A	ENST00000220562.4	+	3	1401	c.499G>A	c.(499-501)Ggc>Agc	p.G167S	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	167						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.G167S(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GGACGATGCCGGCCTCCCTCC	0.602000													13	47					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147096156	147096156	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:147096156C>A	ENST00000234739.3	+	10	4417	c.3677C>A	c.(3676-3678)cCt>cAt	p.P1226H		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1226	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding	p.P1226H(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GTCATCCGACCTGGAGCCACC	0.572000			T	"""IGH@, IGL@"""	B-ALL								9	83					1.08611e-07	1.35002e-07	1	1	0
METTL13	51603	broad.mit.edu	37	1	171753362	171753362	+	Silent	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:171753362C>T	ENST00000361735.3	+	2	902	c.636C>T	c.(634-636)ttC>ttT	p.F212F	METTL13_ENST00000458517.1_Silent_p.F211F|METTL13_ENST00000362019.3_Silent_p.F126F|METTL13_ENST00000367737.5_Intron	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	212							methyltransferase activity|protein binding	p.F212F(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TGACCAAGTTCAGGCCAGTCC	0.612000													21	80					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37438705	37438705	+	Splice_Site	SNP	C	C	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr10:37438705C>A	ENST00000374660.1	+	11	1504	c.1404_splice	c.e11-1	p.P469_splice	ANKRD30A_ENST00000602533.1_Splice_Site_p.P469_splice|ANKRD30A_ENST00000361713.1_Splice_Site_p.P469_splice			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	525						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P469T(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCCCATTTAGCCTGCCATTGA	0.279000													10	65					2.17888e-05	2.56452e-05	1	1	0
CROCCP2	84809	broad.mit.edu	37	1	16952952	16952952	+	RNA	SNP	G	G	A	rs1762946	by1000genomes	TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:16952952G>A	ENST00000412962.1	-	0	664																											TCTGCCCTCAGCTTGGTCACG	0.622000													10	37					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77709193	77709193	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr17:77709193A>T	ENST00000328313.5	+	3	972	c.751A>T	c.(751-753)Acc>Tcc	p.T251S		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	251					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.T251S(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGGCATGACGACCGTGGACAA	0.607000													34	50					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													3	26					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520541	131520541	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr2:131520541C>T	ENST00000423981.1	+	2	1006	c.896C>T	c.(895-897)gCc>gTc	p.A299V	AMER3_ENST00000321420.4_Missense_Mutation_p.A299V	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.A299V(1)									GCCTCGCCCGCCCAGAATGAA	0.662000													10	43					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141259382	141259382	+	Silent	SNP	A	A	C			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr2:141259382A>C	ENST00000389484.3	-	55	9695	c.8724T>G	c.(8722-8724)ggT>ggG	p.G2908G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2908	LDL-receptor class A 20.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G2908G(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTCGCAAAGACCTCCACTGG	0.388000										TSP Lung(27;0.18)			4	36					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43268074	43268074	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr19:43268074A>T	ENST00000404209.4	-	2	520	c.424T>A	c.(424-426)Tta>Ata	p.L142I	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.L142I|PSG8_ENST00000306511.4_Missense_Mutation_p.L142I	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	142	Ig-like V-type.					extracellular region		p.L142I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TCACGATATAAGGTGAAGGTG	0.493000													6	210					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842280	5842280	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr11:5842280G>A	ENST00000317037.2	+	1	737	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A239T(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGTCACAAAGCCTTCAGCAC	0.423000													10	124					0	0	1	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204379080	204379080	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:204379080T>C	ENST00000367188.4	-	1	1839	c.1460A>G	c.(1459-1461)tAt>tGt	p.Y487C	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	487					regulation of translation			p.Y487C(1)		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)			CTGGGGATTATAAGGATCTAC	0.438000													22	80					0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44080129	44080129	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr11:44080129C>T	ENST00000378832.1	+	13	1560	c.1504C>T	c.(1504-1506)Ctc>Ttc	p.L502F		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	502							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.L502F(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AGAAGAACGGCTCCTCTATTG	0.522000													19	109					0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113500284	113500284	+	Splice_Site	SNP	T	T	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr2:113500284T>A	ENST00000541405.1	-	7	1849	c.1327_splice	c.e7+1	p.E442_splice	NT5DC4_ENST00000327581.4_3'UTR|CKAP2L_ENST00000302450.6_Splice_Site_p.E607_splice			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	607						centrosome		p.E607D(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TAATAGTACCTTCTGTGGTTC	0.333000													13	26					0	0	1	0	0
ZIM2	23619	broad.mit.edu	37	19	57286129	57286129	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr19:57286129C>A	ENST00000391708.3	-	12	2053	c.1511G>T	c.(1510-1512)gGc>gTc	p.G504V	ZIM2_ENST00000221722.5_Missense_Mutation_p.G504V|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.G504V|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.G504V|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.G504V	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2									p.G504V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TGAGGGTCGGCCGAAACATTT	0.438000													8	46					0.000157383	0.000175899	1	1	0
TOP1	7150	broad.mit.edu	37	20	39741460	39741460	+	Silent	SNP	G	G	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr20:39741460G>A	ENST00000361337.2	+	14	1597	c.1347G>A	c.(1345-1347)cgG>cgA	p.R449R	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	449					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	p.R449R(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	CTGCTCGGCGGCTGAAAAAAT	0.473000			T	NUP98	AML*								3	16					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85993891	85993891	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr10:85993891G>A	ENST00000372105.3	-	3	854	c.833C>T	c.(832-834)aCt>aTt	p.T278I		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	278	Ig-like C2-type.					integral to endoplasmic reticulum membrane		p.T278I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGGGACTCCAGTAGCTCCACA	0.592000													12	69					0	0	1	0	0
ATP5C1	509	broad.mit.edu	37	10	7842009	7842009	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr10:7842009A>T	ENST00000356708.7	+	6	671	c.592A>T	c.(592-594)Aca>Tca	p.T198S	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Missense_Mutation_p.T198S|ATP5C1_ENST00000541227.1_Missense_Mutation_p.T151S	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	198					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.T198S(1)		breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						CTCCTATAAGACAGAAGAAAA	0.299000													28	131					0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82574861	82574861	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr15:82574861C>A	ENST00000339465.5	+	3	724	c.655C>A	c.(655-657)Cgt>Agt	p.R219S	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.R204S	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	219								p.R219S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						CACTGAATTCCGTGAAAGTTT	0.473000													8	32					0.00448238	0.0047314	1	1	0
NLRP3	114548	broad.mit.edu	37	1	247588207	247588207	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:247588207G>A	ENST00000366497.2	+	4	2242	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N	NLRP3_ENST00000348069.2_Missense_Mutation_p.D488N|NLRP3_ENST00000391828.3_Missense_Mutation_p.D488N|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.D488N|NLRP3_ENST00000366496.2_Missense_Mutation_p.D488N|NLRP3_ENST00000391827.2_Missense_Mutation_p.D488N	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	488	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.D488N(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGAGGAGTCCGACCTCAGGAA	0.552000													5	25					0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33015700	33015700	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr10:33015700G>T	ENST00000375030.2	+	11	1171	c.553G>T	c.(553-555)Gtg>Ttg	p.V185L	C10orf68_ENST00000375025.4_Missense_Mutation_p.V177L|C10orf68_ENST00000375028.3_Missense_Mutation_p.V153L			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	177								p.V177L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TCAAGATTCAGTGTCAAAACT	0.284000													6	14					0.00198382	0.0021451	1	1	0
CASP9	842	broad.mit.edu	37	1	15834374	15834374	+	Silent	SNP	T	T	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:15834374T>A	ENST00000546424.1	-	3	691	c.447A>T	c.(445-447)gcA>gcT	p.A149A	CASP9_ENST00000333868.5_Silent_p.A149A|CASP9_ENST00000375890.4_Silent_p.A66A|CASP9_ENST00000348549.5_Intron			P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	149					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	p.A149A(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		TCACCAAATCTGCATTTCCCC	0.562000													6	68					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97529783	97529783	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr2:97529783C>A	ENST00000305476.5	-	11	1342	c.1210G>T	c.(1210-1212)Gtg>Ttg	p.V404L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	404	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	p.V404L(1)		NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CGAGGCCCCACCTGCTCCTCC	0.612000													12	25					0.0167234	0.0171093	1	1	0
OR1L8	138881	broad.mit.edu	37	9	125330105	125330105	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr9:125330105A>G	ENST00000304865.2	-	1	733	c.652T>C	c.(652-654)Tct>Cct	p.S218P		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S218P(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CGTATATAAGAGAAAGCAATG	0.433000													5	14					0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168260408	168260408	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:168260408C>T	ENST00000367821.3	+	2	265	c.214C>T	c.(214-216)Cca>Tca	p.P72S		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	72					anatomical structure morphogenesis	nucleus	DNA binding	p.P72S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					ACGGATGTTTCCAGTCCTAAA	0.517000													30	152					0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31500054	31500054	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr16:31500054G>A	ENST00000330498.3	+	10	1260	c.1241G>A	c.(1240-1242)cGg>cAg	p.R414Q		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	414					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	p.R414Q(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						ACGCGCCTGCGGCCACGCGCC	0.701000													6	10					0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71464085	71464085	+	Silent	SNP	T	T	C			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr4:71464085T>C	ENST00000322937.6	+	4	251	c.148T>C	c.(148-150)Ttg>Ctg	p.L50L	AMBN_ENST00000449493.2_Silent_p.L50L	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	50					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	p.L50L(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AATGAGACAGTTGGGAAGTCT	0.348000													5	60					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513025	78513025	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr12:78513025G>A	ENST00000397909.2	+	15	3222	c.3049G>A	c.(3049-3051)Gat>Aat	p.D1017N	NAV3_ENST00000228327.6_Missense_Mutation_p.D1017N|NAV3_ENST00000536525.2_Missense_Mutation_p.D1017N|NAV3_ENST00000266692.7_Missense_Mutation_p.D1017N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1017						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.D1017N(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGGGAAAACCGATGATGCCAA	0.388000										HNSCC(70;0.22)			27	88					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021088	5021088	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr12:5021088G>A	ENST00000382545.3	+	2	1651	c.544G>A	c.(544-546)Gtc>Atc	p.V182I	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	182					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.V182I(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATCTCCATCGTCATCTTTTG	0.597000													10	46					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754110	49754110	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr6:49754110T>G	ENST00000304801.3	-	1	943	c.791A>C	c.(790-792)aAg>aCg	p.K264T		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	264					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.K264T(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTTAACGATCTTGGCTCCCTC	0.418000													6	110					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18022446	18022446	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr22:18022446G>T	ENST00000262608.8	+	15	2551	c.2551G>T	c.(2551-2553)Ggg>Tgg	p.G851W	CECR2_ENST00000400585.2_Missense_Mutation_p.G709W|CECR2_ENST00000400573.4_Missense_Mutation_p.G850W	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	892					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	p.G850W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGCTCTTCGGGGGGTGCAGGG	0.632000													11	41					4.68919e-08	5.97939e-08	1	1	0
RBM5	10181	broad.mit.edu	37	3	50145581	50145581	+	Splice_Site	SNP	G	G	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr3:50145581G>A	ENST00000347869.3	+	13	1294		c.e13+1		RBM5_ENST00000441812.2_Splice_Site	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5						apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	p.?(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATATGCTCAGGTAGGTAGATT	0.418000													9	54					0	0	1	0	0
KLK12	43849	broad.mit.edu	37	19	51532662	51532662	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr19:51532662A>G	ENST00000250352.11	-	5	986	c.313T>C	c.(313-315)Tcc>Ccc	p.S105P	KLK12_ENST00000525263.1_Missense_Mutation_p.S215P|KLK12_ENST00000319590.4_Missense_Mutation_p.S215P|KLK12_ENST00000529888.1_3'UTR|KLK12_ENST00000250351.4_Missense_Mutation_p.S215P			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	215	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity	p.S215P(1)		endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GACCCCCAGGACACCAGACCT	0.532000													6	58					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29126289	29126289	+	Silent	SNP	T	T	C			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr18:29126289T>C	ENST00000261590.8	+	15	3149	c.2940T>C	c.(2938-2940)gcT>gcC	p.A980A	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	980					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.A980A(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGCCTTATGCTAATGAAGGTA	0.498000													18	36					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr17:7578203C>T	ENST00000420246.2	-	6	778	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000269305.4_Missense_Mutation_p.V216M|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000455263.2_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACCACCACACTATGTCGA	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			3	16					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38934235	38934235	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr19:38934235G>A	ENST00000355481.4	+	4	439	c.308G>A	c.(307-309)gGc>gAc	p.G103D	RYR1_ENST00000360985.3_Missense_Mutation_p.G103D|RYR1_ENST00000359596.3_Missense_Mutation_p.G103D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	103	MIR 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G103D(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCCTGTATGGCCATGCCATC	0.652000													5	31					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476501	120476501	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr9:120476501G>C	ENST00000355622.6	+	3	2196	c.2095G>C	c.(2095-2097)Ggg>Cgg	p.G699R	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.G659R	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	699	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.G699R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTTAGAAGAAGGGGTGCCTCC	0.438000													9	44					0	0	1	0	0
C20orf196	149840	broad.mit.edu	37	20	5843983	5843983	+	Silent	SNP	C	C	A	rs138963473		TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr20:5843983C>A	ENST00000303142.6	+	3	579	c.492C>A	c.(490-492)tcC>tcA	p.S164S		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	164								p.S164S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						AGAGGCATTCCAGGGACACCC	0.507000													12	65					1.61879e-10	2.13168e-10	1	1	0
RBM34	23029	broad.mit.edu	37	1	235295187	235295187	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:235295187C>A	ENST00000408888.3	-	11	1364	c.1134G>T	c.(1132-1134)aaG>aaT	p.K378N	RBM34_ENST00000366606.3_Missense_Mutation_p.K373N|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	378						nucleolus	nucleotide binding|RNA binding	p.K378N(1)		central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TACTGACATTCTTCAATCGTG	0.318000													14	59					7.93312e-07	9.76949e-07	1	1	0
KLHL20	27252	broad.mit.edu	37	1	173751319	173751319	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr1:173751319A>G	ENST00000209884.4	+	11	1832	c.1696A>G	c.(1696-1698)Aca>Gca	p.T566A	KLHL20_ENST00000546011.1_Missense_Mutation_p.T377A	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	566					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TGATGGCACAACATACTTGAA	0.413000													4	114					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179614019	179614020	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr2:179614019_179614020insT	ENST00000360870.5	-	46	13329_13330	c.13107_13108insA	c.(13105-13110)aacaaafs	p.NK4369fs	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	503	Ig-like 23.						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)			TGCAGCTTTGATTTTTCACTTA	0.376													34	97	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													4	8	---	---	---	---					
CYP21A1P	1590	broad.mit.edu	37	6	31973891	31973891	+	RNA	DEL	T	T	-			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr6:31973891delT	ENST00000342991.6	+	0	479					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										cttaaacaaattttttttttg	0.493													2	4	---	---	---	---					
NELL2	4753	broad.mit.edu	37	12	44917237	44917242	+	In_Frame_Del	DEL	CTGTGC	CTGTGC	-			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr12:44917237_44917242delCTGTGC	ENST00000429094.2	-	17	2334_2339	c.1830_1835delGCACAG	c.(1828-1836)agc>ag	p.RHS610del	NELL2_ENST00000549027.1_In_Frame_Del_p.RHS609del|NELL2_ENST00000452445.2_In_Frame_Del_p.RHS610del|NELL2_ENST00000437801.2_In_Frame_Del_p.RHS660del|NELL2_ENST00000333837.4_In_Frame_Del_p.RHS633del|NELL2_ENST00000551601.1_In_Frame_Del_p.RHS562del|NELL2_ENST00000395487.2_In_Frame_Del_p.RHS609del	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	610	EGF-like 6; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ATTGGCACAGCTGTGCCTCCCGGTCC	0.442													13	72	---	---	---	---					
PIGB	9488	broad.mit.edu	37	15	55631502	55631503	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr15:55631502_55631503insT	ENST00000164305.5	+	7	1123_1124	c.832_833insT	c.(832-834)tttfs	p.F278fs	PIGB_ENST00000539642.1_Frame_Shift_Ins_p.F83fs	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	278					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		GATTGATCGTATTTTTTTTGGC	0.282													2	4	---	---	---	---					
LOC102723841	102723841	broad.mit.edu	37	16	33365420	33365420	+	RNA	DEL	A	A	-			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr16:33365420delA	ENST00000568520.1	-	0	249																											TACAAACTATAAAAAAACAGA	0.358													2	4	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29661894	29661894	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr17:29661894delC	ENST00000358273.4	+	40	6234	c.5851delC	c.(5851-5853)cafs	p.P1951fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.P1930fs|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1951			P -> L (in a colorectal cancer sample; somatic mutation).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.M1949fs*2(1)|p.P1951fs*6(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATACATGACTCCATGGCTGTC	0.338			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			13	56	---	---	---	---					
LINC00669	647946	broad.mit.edu	37	18	37248431	37248454	+	RNA	DEL	AGGGAGGAAGGAAGGAAGGAAGGA	AGGGAGGAAGGAAGGAAGGAAGGA	-	rs141334489	by1000genomes	TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr18:37248431_37248454delAGGGAGGAAGGAAGGAAGGAAGGA	ENST00000591629.1	-	0	282					NR_024391.1																						ggagggagggagggaggaaggaaggaaggaaggaaggaaggaag	0.402													5	6	---	---	---	---					
NFKBIB	4793	broad.mit.edu	37	19	39390759	39390759	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr19:39390759delG	ENST00000392079.3	+	1	145	c.47delG	c.(46-48)cgfs	p.R16fs	NFKBIB_ENST00000572515.1_Frame_Shift_Del_p.A30fs|NFKBIB_ENST00000313582.5_Frame_Shift_Del_p.A30fs			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	0					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CGGACGCAGCGGCCCCCGGAG	0.706											OREG0032100	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	2	4	---	---	---	---					
CD93	22918	broad.mit.edu	37	20	23064979	23064981	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chr20:23064979_23064981delCTT	ENST00000246006.4	-	1	1996_1998	c.1849_1851delAAG	c.(1849-1851)del	p.K617del		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	617					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCTTCTTCTCCTTCTTCTCCTCC	0.591													30	166	---	---	---	---					
FAM47C	442444	broad.mit.edu	37	X	37028222	37028222	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5068-01A-01D-1625-08	TCGA-50-5068-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1efdc48-6ea5-45f0-9fa3-94c42ecf3ab4	c2c22c1c-6411-423f-8e81-819f49e60803	g.chrX:37028222delC	ENST00000358047.3	+	1	1791	c.1739delC	c.(1738-1740)tcfs	p.S580fs		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	580										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACTGGAGTGTCCCATCTCTGC	0.657													12	86	---	---	---	---