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
SYNPO2	171024	broad.mit.edu	37	4	119952972	119952972	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:119952972C>T	ENST00000307142.4	+	4	3238	c.3042C>T	c.(3040-3042)gcC>gcT	p.A1014A	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Silent_p.A1014A|SYNPO2_ENST00000434046.2_Silent_p.A1014A	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	1014						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGAATGCTGCCTCACCTACGA	0.562000													8	65					0	0	0.003080	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463331	5463331	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:5463331C>T	ENST00000296564.7	+	13	4106	c.3884C>T	c.(3883-3885)aCc>aTc	p.T1295I		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1295										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AACAACATGACCACTGAGAAT	0.408000													5	11					0	0	0.001168	0	0
CD244	51744	broad.mit.edu	37	1	160832413	160832413	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:160832413C>T	ENST00000368034.4	-	1	232	c.55G>A	c.(55-57)Ggc>Agc	p.G19S	CD244_ENST00000368032.2_Missense_Mutation_p.G19S|CD244_ENST00000322302.7_Missense_Mutation_p.G19S|CD244_ENST00000368033.3_Missense_Mutation_p.G19S	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	19					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTACCTTTGCCCTGATACACC	0.622000													5	43					0	0	0.001168	0	0
MOXD1	26002	broad.mit.edu	37	6	132645187	132645187	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:132645187C>T	ENST00000367963.3	-	7	1114	c.996G>A	c.(994-996)agG>agA	p.R332R	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Silent_p.R264R	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	332					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CATCATATTTCCTTATATCCA	0.418000													10	35					0	0	0.000673	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423747	107423747	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:107423747C>T	ENST00000340010.5	-	9	1206	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E	SLC26A3_ENST00000422236.2_Missense_Mutation_p.G306E	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	341					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAAGCAATCTCCTACGGTGTT	0.423000													10	36					0	0	0.000673	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716235	13716235	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:13716235C>T	ENST00000279593.3	-	13	4146	c.3937G>A	c.(3937-3939)Gaa>Aaa	p.E1313K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1313					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1313K(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCGGCTTCTTCCTTCTGCAGG	0.587000													25	92					0	0	0.004656	0	0
LIMK2	3985	broad.mit.edu	37	22	31662023	31662023	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:31662023C>T	ENST00000331728.4	+	8	1060	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	LIMK2_ENST00000406516.1_Missense_Mutation_p.R238C|LIMK2_ENST00000340552.4_Missense_Mutation_p.R295C|LIMK2_ENST00000333611.4_Missense_Mutation_p.R295C|LIMK2_ENST00000444929.2_Missense_Mutation_p.R70C	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	316						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGAATCCCTTCGTTGTTCCAG	0.577000													15	48					0	0	0.004990	0	0
IGHG2	3501	broad.mit.edu	37	14	106109828	106109828	+	RNA	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:106109828G>A	ENST00000390545.2	-	0	692																											CCCGGGATGGGGGCAGGGTGT	0.647000													27	128					0	0	0.004289	0	0
GPR110	266977	broad.mit.edu	37	6	46977388	46977388	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:46977388T>C	ENST00000371253.2	-	11	1998	c.1783A>G	c.(1783-1785)Atc>Gtc	p.I595V	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.I398V	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	595					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCAATGGAGATACCCAGTCCC	0.433000													23	42					0	0	0.002299	0	0
DOCK2	1794	broad.mit.edu	37	5	169506118	169506118	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:169506118G>A	ENST00000256935.8	+	49	5214	c.5134G>A	c.(5134-5136)Gag>Aag	p.E1712K	DOCK2_ENST00000520908.1_Missense_Mutation_p.E1204K|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.E773K	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1712					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTTGCGGATGAGAAAGCAGC	0.572000													12	39					0	0	0.002450	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432608	140432608	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:140432608G>A	ENST00000306549.3	+	1	1630	c.1553G>A	c.(1552-1554)aGa>aAa	p.R518K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		518	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACGCGCTGAGAACCATGGAT	0.433000													6	33					0	0	0.001168	0	0
DMRTB1	63948	broad.mit.edu	37	1	53925162	53925162	+	Silent	SNP	G	G	A	rs150523807	byFrequency	TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:53925162G>A	ENST00000371445.3	+	1	91	c.36G>A	c.(34-36)tcG>tcA	p.S12S		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	12					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.S12S(1)		large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CCAAGTGCTCGAGATGCAGGA	0.612000													7	30					0	0	0.004482	0	0
PNPLA5	150379	broad.mit.edu	37	22	44285393	44285393	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:44285393T>C	ENST00000216177.4	-	4	650	c.518A>G	c.(517-519)aAc>aGc	p.N173S	PNPLA5_ENST00000593866.1_Intron|PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000597664.1_Missense_Mutation_p.N173S	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	173	Patatin.				lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GGGCAAGTTGTTGCTCAGAGC	0.632000													22	106					0	0	0.002299	0	0
MICALL2	79778	broad.mit.edu	37	7	1484390	1484390	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:1484390G>A	ENST00000297508.7	-	6	1491	c.1316C>T	c.(1315-1317)cCg>cTg	p.P439L	MICALL2_ENST00000405088.4_Missense_Mutation_p.P227L	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	439						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AACAAGTGACGGGGTGGGACC	0.642000													4	20					0	0	0.001168	0	0
CUL9	23113	broad.mit.edu	37	6	43153909	43153909	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:43153909C>T	ENST00000252050.4	+	4	1051	c.967C>T	c.(967-969)Ctc>Ttc	p.L323F	CUL9_ENST00000372647.2_Missense_Mutation_p.L323F|CUL9_ENST00000354495.3_Missense_Mutation_p.L323F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	323					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGCCCGGAACCTCAGCGAACA	0.607000													14	95					0	0	0.003163	0	0
POTEM	641455	broad.mit.edu	37	14	20019973	20019973	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:20019973G>A	ENST00000551509.1	-	1	299	c.248C>T	c.(247-249)tCt>tTt	p.S83F		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	83										endometrium(4)|kidney(1)|lung(4)	9						GTGGTCTCCAGAAGTGCCCAC	0.592000													13	489					0	0	0.003954	0	0
CEP89	84902	broad.mit.edu	37	19	33450905	33450905	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:33450905G>A	ENST00000305768.4	-	3	294	c.206C>T	c.(205-207)cCt>cTt	p.P69L	CEP89_ENST00000590597.1_Missense_Mutation_p.P69L	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	69						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GCGAGGCTGAGGAATAGCAAC	0.567000													7	40					0	0	0.001984	0	0
ERBB3	2065	broad.mit.edu	37	12	56495582	56495582	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:56495582G>A	ENST00000267101.3	+	28	4212	c.3772G>A	c.(3772-3774)Gaa>Aaa	p.E1258K	RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000549832.1_Missense_Mutation_p.E378K|ERBB3_ENST00000450146.2_Missense_Mutation_p.E615K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E1199K|ERBB3_ENST00000553131.1_Missense_Mutation_p.E499K	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1258					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AACTCCAGATGAAGACTATGA	0.557000													15	54					0	0	0.004007	0	0
SERPINB11	89778	broad.mit.edu	37	18	61387272	61387272	+	RNA	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr18:61387272G>A	ENST00000544088.1	+	0	563				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TCTTTGGAAAGAGCACAATTG	0.328000													14	45					0	0	0.003163	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564360	46564360	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:46564360G>A	ENST00000458649.2	-	7	1625	c.1207C>T	c.(1207-1209)Cct>Tct	p.P403S	AMBRA1_ENST00000528950.1_Missense_Mutation_p.P403S|AMBRA1_ENST00000298834.3_Missense_Mutation_p.P403S|AMBRA1_ENST00000426438.1_Missense_Mutation_p.P403S|AMBRA1_ENST00000314845.3_Missense_Mutation_p.P313S|AMBRA1_ENST00000533727.1_Missense_Mutation_p.P313S|AMBRA1_ENST00000534300.1_Missense_Mutation_p.P403S			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	403					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TACCTAGAAGGGTGGCTAGAC	0.592000													17	55					0	0	0.000958	0	0
OR6K3	391114	broad.mit.edu	37	1	158687706	158687706	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:158687706G>A	ENST00000368146.1	-	1	247	c.248C>T	c.(247-249)tCc>tTc	p.S83F	OR6K3_ENST00000368145.1_Missense_Mutation_p.S67F			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S83F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CTCCAGAAAGGAAAATATACT	0.408000													26	75					0	0	0.003954	0	0
GPR98	84059	broad.mit.edu	37	5	90281229	90281229	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:90281229C>T	ENST00000405460.2	+	85	18138	c.18042C>T	c.(18040-18042)ttC>ttT	p.F6014F	GPR98_ENST00000425867.2_Silent_p.F1675F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6014					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGCTGTTTTTCCTTCTGAGTT	0.413000													8	27					0	0	0.003080	0	0
PTGS1	5742	broad.mit.edu	37	9	125148726	125148726	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:125148726G>A	ENST00000362012.2	+	9	1016	c.1009_splice	c.e9-1	p.G337_splice	PTGS1_ENST00000540753.1_Splice_Site_p.G312_splice|PTGS1_ENST00000373698.5_Splice_Site_p.G228_splice|PTGS1_ENST00000223423.4_Splice_Site_p.G337_splice|AL162424.1_ENST00000600713.1_Intron	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	337					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CCTGCCCAGGGGAGACCATCA	0.527000													26	87					0	0	0.003954	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261928	125261928	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:125261928C>T	ENST00000431078.1	+	8	1483	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	373	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTGTCAACTCCAGCGGCAGCT	0.463000													19	70					0	0	0.001216	0	0
NOX5	79400	broad.mit.edu	37	15	69347814	69347814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:69347814C>T	ENST00000260364.5	+	16	2387	c.2086C>T	c.(2086-2088)Cag>Tag	p.Q696*	NOX5_ENST00000448182.3_Nonsense_Mutation_p.Q668*|NOX5_ENST00000388866.3_Nonsense_Mutation_p.Q714*|NOX5_ENST00000530406.2_Nonsense_Mutation_p.Q686*|NOX5_ENST00000455873.3_Nonsense_Mutation_p.Q679*			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	714					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GACGCGCACCCAGCCTGGGCG	0.607000													11	43					0	0	0.000978	0	0
GRM2	2912	broad.mit.edu	37	3	51751697	51751697	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:51751697C>T	ENST00000395052.3	+	5	2643	c.2409C>T	c.(2407-2409)tcC>tcT	p.S803S	GRM2_ENST00000442933.2_Silent_p.S525S|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	803					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TCAGCGGCTCCGTGGTGCTTG	0.627000													8	35					0	0	0.003080	0	0
CDSN	1041	broad.mit.edu	37	6	31084629	31084629	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:31084629C>T	ENST00000376288.2	-	2	789	c.763G>A	c.(763-765)Gtg>Atg	p.V255M	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	255	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						TCCACCACCACCACCACAGGC	0.652000													9	30					0	0	0.000443	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649560	20649560	+	RNA	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:20649560C>T	ENST00000428453.1	-	0	2638																		p.G650E(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GTCGTAATTTCCTTCTTTCCC	0.592000													23	283					0	0	0.003954	0	0
TRPM8	79054	broad.mit.edu	37	2	234847806	234847806	+	Silent	SNP	C	C	T	rs151205278		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:234847806C>T	ENST00000324695.4	+	5	553	c.513C>T	c.(511-513)atC>atT	p.I171I	TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000409625.1_Silent_p.I94I|TRPM8_ENST00000355722.4_Silent_p.I121I	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	171						integral to membrane		p.I171I(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCATCTACATCGCGCAGTCCA	0.592000													8	31					0	0	0.003080	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208725947	208725947	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:208725947T>C	ENST00000427836.2	-	7	2479	c.1990A>G	c.(1990-1992)Att>Gtt	p.I664V	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.I664V	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	664					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCAAATTTAATGACCTTGCCC	0.448000													27	75					0	0	0.002096	0	0
USP54	159195	broad.mit.edu	37	10	75277230	75277230	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:75277230G>A	ENST00000339859.4	-	19	3054	c.2954C>T	c.(2953-2955)tCt>tTt	p.S985F	USP54_ENST00000394811.2_Missense_Mutation_p.S73F|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.S985F|USP54_ENST00000422491.2_Missense_Mutation_p.S167F|USP54_ENST00000428547.1_Missense_Mutation_p.S835F|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600206.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	985					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ACTATGATGAGAATTCTTCTC	0.502000													6	39					0	0	0.001984	0	0
PACS1	55690	broad.mit.edu	37	11	65983685	65983685	+	Silent	SNP	C	C	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:65983685C>A	ENST00000320580.4	+	5	789	c.756C>A	c.(754-756)tcC>tcA	p.S252S		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	252					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						AGATCTACTCCCTGTCCAGCC	0.517000													13	40					0.000151284	0.000318909	0.001855	1	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	A	rs11554290		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:115256529T>A	ENST00000369535.4	-	3	435	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			21	112					0	0	0.001882	0	0
NRG1	3084	broad.mit.edu	37	8	32505269	32505269	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:32505269C>T	ENST00000520502.2	+	1	33	c.33C>T	c.(31-33)gtC>gtT	p.V11V	NRG1_ENST00000338921.4_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000523079.1_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TGTCTGAGGTCGCCGCCGAGA	0.612000													10	42					0	0	0.001368	0	0
DPP6	1804	broad.mit.edu	37	7	154564580	154564580	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:154564580C>T	ENST00000404039.1	+	10	1459	c.872C>T	c.(871-873)tCc>tTc	p.S291F	DPP6_ENST00000427557.1_Missense_Mutation_p.S248F|DPP6_ENST00000377770.3_Missense_Mutation_p.S355F|DPP6_ENST00000332007.3_Missense_Mutation_p.S293F	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	355					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCCAGCATTTCCCTACACGTT	0.468000													6	25					0	0	0.001984	0	0
CEL	1056	broad.mit.edu	37	9	135946651	135946651	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:135946651T>G	ENST00000372080.4	+	11	1787	c.1771T>G	c.(1771-1773)Tcc>Gcc	p.S591A	CEL_ENST00000351304.7_Missense_Mutation_p.S522A	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	588	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CACGGGTGACTCCGGGGCCCC	0.806000													3	26					0	0	0.000248	0	0
CA9	768	broad.mit.edu	37	9	35675789	35675789	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:35675789C>T	ENST00000378357.4	+	3	569	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	155	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGTCCCCAGCCTGCGCGGGCC	0.692000													6	16					0	0	0.003080	0	0
SLC22A8	9376	broad.mit.edu	37	11	62763520	62763520	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:62763520C>T	ENST00000336232.2	-	6	1001	c.866G>A	c.(865-867)gGa>gAa	p.G289E	SLC22A8_ENST00000535878.1_Missense_Mutation_p.G166E|SLC22A8_ENST00000545207.1_Missense_Mutation_p.G198E|SLC22A8_ENST00000430500.2_Missense_Mutation_p.G289E|SLC22A8_ENST00000311438.8_Missense_Mutation_p.G289E	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	289					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GAGCCTTTCTCCCTCTTCCTT	0.582000													17	76					0	0	0.006122	0	0
MYOM1	8736	broad.mit.edu	37	18	3188908	3188908	+	Silent	SNP	T	T	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr18:3188908T>C	ENST00000400569.3	-	4	942	c.609A>G	c.(607-609)acA>acG	p.T203T	MYOM1_ENST00000356443.4_Silent_p.T203T|MYOM1_ENST00000261606.7_Silent_p.T203T			P52179	MYOM1_HUMAN	myomesin 1	203	6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle	p.T203T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCTTGGATGCTGTGGACTGCT	0.532000													4	90					0	0	0.001168	0	0
SLC22A18	5002	broad.mit.edu	37	11	2946301	2946301	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:2946301C>T	ENST00000380574.1	+	11	1580	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V	SLC22A18_ENST00000312221.5_Silent_p.V383V|SLC22A18_ENST00000347936.2_Silent_p.V383V|SLC22A18_ENST00000441077.1_3'UTR|SLC22A18_ENST00000449793.2_Silent_p.V285V			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	383					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		GACCCACGGTCGGCGGCCTCC	0.642000													102	467					0	0	0.003610	0	0
TRPM8	79054	broad.mit.edu	37	2	234915547	234915547	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:234915547G>A	ENST00000324695.4	+	23	3221	c.3181G>A	c.(3181-3183)Gaa>Aaa	p.E1061K	TRPM8_ENST00000433712.2_Missense_Mutation_p.E639K	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	1061						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGTCATGAAGGAAAACTACCT	0.413000													12	19					0	0	0.002450	0	0
RELA	5970	broad.mit.edu	37	11	65429188	65429188	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:65429188G>A	ENST00000525693.1	-	4	367	c.305C>T	c.(304-306)gCt>gTt	p.A102V	RELA_ENST00000308639.9_Missense_Mutation_p.A102V|RELA_ENST00000406246.3_Missense_Mutation_p.A102V			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	102	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GCAGAGCTCAGCCTCATAGAA	0.642000													12	68					0	0	0.001855	0	0
IGHG3	3502	broad.mit.edu	37	14	106236259	106236259	+	RNA	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:106236259C>T	ENST00000390551.2	-	0	544																											TCCGGGAAATCATAAGGGTAT	0.592000													23	71					0	0	0.002299	0	0
ZHX2	22882	broad.mit.edu	37	8	123964360	123964360	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:123964360G>A	ENST00000314393.4	+	3	1445	c.610G>A	c.(610-612)Gag>Aag	p.E204K		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	204	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CAAGAAGCCCGAGGAGATCAC	0.582000													26	203					0	0	0.001061	0	0
COL1A1	1277	broad.mit.edu	37	17	48264038	48264038	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:48264038G>A	ENST00000225964.5	-	48	3895	c.3777C>T	c.(3775-3777)tgC>tgT	p.C1259C		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1259	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TGAGGTCACGGCAGGTGCGGG	0.647000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						15	60					0	0	0.002450	0	0
CCS	9973	broad.mit.edu	37	11	66372865	66372865	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:66372865G>A	ENST00000533244.1	+	6	986	c.545G>A	c.(544-546)aGa>aAa	p.R182K	CCS_ENST00000310190.4_Missense_Mutation_p.R163K	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	182	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GCCATCTTCAGAATGGAGGAT	0.567000													6	43					0	0	0.001984	0	0
KCNIP4	80333	broad.mit.edu	37	4	20852279	20852279	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:20852279C>T	ENST00000382148.3	-	2	436	c.100G>A	c.(100-102)Gat>Aat	p.D34N	KCNIP4_ENST00000382152.2_Missense_Mutation_p.D59N|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382150.4_Missense_Mutation_p.D38N|KCNIP4_ENST00000509207.1_5'UTR|KCNIP4_ENST00000447367.2_Missense_Mutation_p.D25N|KCNIP4_ENST00000359001.5_5'UTR	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	59	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TCCAGTTCATCTTCCACGCTG	0.498000													6	28					0	0	0.001168	0	0
ZNF217	7764	broad.mit.edu	37	20	52198100	52198100	+	Silent	SNP	A	A	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr20:52198100A>G	ENST00000371471.2	-	2	1691	c.1266T>C	c.(1264-1266)ccT>ccC	p.P422P	ZNF217_ENST00000302342.3_Silent_p.P422P			O75362	ZN217_HUMAN	zinc finger protein 217	422					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CGGCGAGGTCAGGAGAACACG	0.632000													11	46					0	0	0.000978	0	0
C3orf67	200844	broad.mit.edu	37	3	58849239	58849239	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:58849239G>A	ENST00000472469.1	-	11	1822	c.984C>T	c.(982-984)ttC>ttT	p.F328F	C3orf67_ENST00000482387.1_Intron|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000295966.7_Intron|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	0										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TGGAGCTAAGGAAACAACTGT	0.413000													4	10					0	0	0.000248	0	0
AGTR2	186	broad.mit.edu	37	X	115304184	115304184	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrX:115304184C>T	ENST00000371906.4	+	3	841	c.651C>T	c.(649-651)atC>atT	p.I217I		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	217					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TGAAAAATATCCTTGGTTTTA	0.373000													5	12					0	0	0.000602	0	0
POLR3B	55703	broad.mit.edu	37	12	106851069	106851069	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:106851069C>T	ENST00000228347.4	+	21	2669	c.2447C>T	c.(2446-2448)tCt>tTt	p.S816F	POLR3B_ENST00000539066.1_Missense_Mutation_p.S758F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	816					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGTATTTGTTCTCCAGGTAAA	0.333000													12	30					0	0	0.001855	0	0
DIAPH3	81624	broad.mit.edu	37	13	60240758	60240758	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr13:60240758G>A	ENST00000400324.4	-	28	3762	c.3542C>T	c.(3541-3543)cCc>cTc	p.P1181L	DIAPH3_ENST00000400319.1_Missense_Mutation_p.P1111L|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P1170L|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P1181L|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P1135L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1181					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTCAACTTCGGGAACTGATTC	0.363000													10	39					0	0	0.000443	0	0
CELA2B	51032	broad.mit.edu	37	1	15808871	15808871	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:15808871C>T	ENST00000375910.3	+	4	364	c.339C>T	c.(337-339)tcC>tcT	p.S113S	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	113	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						ACTGGAACTCCGACCAGGTCT	0.567000													22	69					0	0	0.001882	0	0
ADCY5	111	broad.mit.edu	37	3	123005552	123005552	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:123005552C>T	ENST00000462833.1	-	20	4849	c.3637G>A	c.(3637-3639)Ggt>Agt	p.G1213S	ADCY5_ENST00000309879.5_Missense_Mutation_p.G863S|ADCY5_ENST00000491190.1_Missense_Mutation_p.G871S	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1213					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCGGGTACACCGGTGCTGTCC	0.642000											OREG0004289|OREG0015741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ADCY5|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	18	52					0	0	0.006122	0	0
DSG1	1828	broad.mit.edu	37	18	28923429	28923429	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr18:28923429G>A	ENST00000257192.4	+	12	1916	c.1704G>A	c.(1702-1704)atG>atA	p.M568I	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	568					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CATTTTTGATGATCTGTTGTG	0.428000													19	134					0	0	0.001523	0	0
SIPA1	6494	broad.mit.edu	37	11	65408626	65408626	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:65408626C>T	ENST00000394224.3	+	2	530	c.234C>T	c.(232-234)gcC>gcT	p.A78A	SIPA1_ENST00000527525.1_Silent_p.A78A|SIPA1_ENST00000394227.3_Silent_p.A78A|SIPA1_ENST00000534313.1_Silent_p.A78A	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	78					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						ACGAAGAGGCCAGCCGACCTG	0.716000													7	30					0	0	0.003080	0	0
THBD	7056	broad.mit.edu	37	20	23028831	23028831	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr20:23028831G>A	ENST00000377103.2	-	1	1547	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	437	EGF-like 5.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	CCGTGCAGATGAAACCGTCGT	0.622000													10	46					0	0	0.000443	0	0
TTN	7273	broad.mit.edu	37	2	179472297	179472297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:179472297C>T	ENST00000589042.1	-	277	53342	c.53118G>A	c.(53116-53118)tgG>tgA	p.W17706*	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W16065*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W8766*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W15138*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W8641*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W8833*|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16065	Fibronectin type-III 28.						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)			CTTCTTTGGTCCATACTTTTG	0.438000													35	142					0	0	0.005524	0	0
CELSR2	1952	broad.mit.edu	37	1	109803705	109803705	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:109803705C>T	ENST00000271332.3	+	3	4061	c.4000C>T	c.(4000-4002)Ccg>Tcg	p.P1334S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1334	EGF-like 3; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCGTTGCACCCCGGGTGTCTG	0.587000													78	267					0	0	0.003610	0	0
AP1B1	162	broad.mit.edu	37	22	29726639	29726639	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:29726639G>A	ENST00000357586.2	-	20	2770	c.2584C>T	c.(2584-2586)Cag>Tag	p.Q862*	AP1B1_ENST00000402502.1_Nonsense_Mutation_p.Q855*|AP1B1_ENST00000356015.2_Nonsense_Mutation_p.Q855*|AP1B1_ENST00000317368.7_Nonsense_Mutation_p.Q835*|AP1B1_ENST00000415447.1_Nonsense_Mutation_p.Q855*|AP1B1_ENST00000432560.2_Nonsense_Mutation_p.Q855*|AP1B1_ENST00000405198.1_Nonsense_Mutation_p.Q862*	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	862					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCTCTGATCTGGAACTGGGCC	0.652000													4	14					0	0	0.000602	0	0
SZT2	23334	broad.mit.edu	37	1	43885494	43885494	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:43885494C>T	ENST00000562955.1	+	8	969	c.969C>T	c.(967-969)tcC>tcT	p.S323S		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	323				S -> A (in Ref. 3; BU101724).		peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CATTTGGGTCCTACCTGTCCA	0.517000													20	55					0	0	0.001216	0	0
TTC29	83894	broad.mit.edu	37	4	147796069	147796069	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:147796069C>T	ENST00000513335.1	-	8	875	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	TTC29_ENST00000325106.4_Missense_Mutation_p.E200K|TTC29_ENST00000398886.4_Missense_Mutation_p.E226K			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	200							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCAGCAGCTTCCAGAAGCTGA	0.423000													7	13					0	0	0.000443	0	0
E2F3	1871	broad.mit.edu	37	6	20483065	20483065	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:20483065C>T	ENST00000346618.3	+	4	864	c.798C>T	c.(796-798)ctC>ctT	p.L266L	E2F3_ENST00000535432.1_Silent_p.L135L	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	266	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TGACCGAGCTCAGTCAGGAAG	0.493000													69	323					0	0	0.003610	0	0
PDE6C	5146	broad.mit.edu	37	10	95400236	95400236	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:95400236G>A	ENST00000371447.3	+	13	1797	c.1659G>A	c.(1657-1659)agG>agA	p.R553R		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	553					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				ACACTGTGAGGAAAGGGTACC	0.443000													23	57					0	0	0.001061	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988095	154988095	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:154988095C>A	ENST00000368426.3	+	3	1096	c.959C>A	c.(958-960)tCc>tAc	p.S320Y	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.S320Y|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.S354Y|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.S320Y	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	320					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TACCTAAGCTCCCTGCACCAG	0.652000													11	42					3.07112e-06	6.49814e-06	0.000978	1	0
MAP1A	4130	broad.mit.edu	37	15	43818368	43818368	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:43818368A>G	ENST00000382031.1	+	5	5442	c.5411A>G	c.(5410-5412)gAa>gGa	p.E1804G	MAP1A_ENST00000300231.5_Missense_Mutation_p.E1566G|MAP1A_ENST00000399453.1_Missense_Mutation_p.E1566G			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1566						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GAAGCCCTGGAACAAAACATT	0.458000													7	34					0	0	0.001984	0	0
ZZEF1	23140	broad.mit.edu	37	17	3916868	3916868	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:3916868G>A	ENST00000381638.2	-	52	8578	c.8454C>T	c.(8452-8454)gtC>gtT	p.V2818V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2818							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GATGAGGCACGACCCTTTCTT	0.443000													33	119					0	0	0.004878	0	0
FBXW9	84261	broad.mit.edu	37	19	12800953	12800953	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:12800953G>A	ENST00000380339.3	-	6	981	c.945C>T	c.(943-945)atC>atT	p.I315I	FBXW9_ENST00000393261.3_Intron|FBXW9_ENST00000587955.1_Silent_p.I305I|FBXW9_ENST00000544494.1_Intron			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	315							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GGTGAGGAGGGATATCAGAGC	0.642000													6	36					0	0	0.001168	0	0
ANXA13	312	broad.mit.edu	37	8	124696873	124696873	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:124696873G>A	ENST00000262219.6	-	11	998	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	ANXA13_ENST00000419625.1_Missense_Mutation_p.R270C	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	270					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			ACGACTATGCGAATCAACGTC	0.512000													14	126					0	0	0.004007	0	0
TBX21	30009	broad.mit.edu	37	17	45822469	45822469	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:45822469C>T	ENST00000177694.1	+	6	1556	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	449					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGCTGGTTCCGCCCTATGCG	0.677000													8	24					0	0	0.000443	0	0
LRFN4	78999	broad.mit.edu	37	11	66626527	66626527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:66626527C>T	ENST00000309602.4	+	1	1555	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*	PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	438	Fibronectin type-III.					integral to membrane				breast(1)|lung(1)|prostate(1)	3						GTTCCAAATCCAGTACAACAG	0.672000													20	70					0	0	0.002299	0	0
ZBBX	79740	broad.mit.edu	37	3	167023544	167023544	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:167023544C>T	ENST00000392766.2	-	17	1952	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	ZBBX_ENST00000392767.2_Missense_Mutation_p.E538K|ZBBX_ENST00000307529.5_Missense_Mutation_p.E538K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E538K|ZBBX_ENST00000392764.1_Missense_Mutation_p.E509K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	538						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GGAGCTTTTTCTAAATCTCTA	0.338000													4	36					0	0	0.000602	0	0
CEP57	9702	broad.mit.edu	37	11	95532426	95532426	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:95532426G>A	ENST00000325542.5	+	2	314	c.76G>A	c.(76-78)Gga>Aga	p.G26R	CEP57_ENST00000541150.1_Missense_Mutation_p.G17R|CEP57_ENST00000538658.1_Missense_Mutation_p.G26R|CEP57_ENST00000537677.1_5'UTR|CEP57_ENST00000325486.5_Missense_Mutation_p.G26R	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	26					fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAGGTCTAATGGAAGCATGGT	0.378000									Mosaic Variegated Aneuploidy Syndrome				15	38					0	0	0.004007	0	0
SLC1A7	6512	broad.mit.edu	37	1	53553770	53553770	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:53553770G>A	ENST00000371494.4	-	11	1721	c.1594C>T	c.(1594-1596)Ccc>Tcc	p.P532S	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	532						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	ACTTGAACGGGGACGTGGTGG	0.637000													13	33					0	0	0.003163	0	0
TACR2	6865	broad.mit.edu	37	10	71164782	71164782	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:71164782C>T	ENST00000373306.4	-	5	1540	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	TACR2_ENST00000373307.1_Missense_Mutation_p.E121K	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	333					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	AGCTTATCTTCCTTGGTGGGT	0.607000													15	69					0	0	0.004007	0	0
FAT4	79633	broad.mit.edu	37	4	126408537	126408537	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:126408537G>A	ENST00000394329.3	+	16	12867	c.12854G>A	c.(12853-12855)gGa>gAa	p.G4285E	FAT4_ENST00000335110.5_Missense_Mutation_p.G2526E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4285	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCGATGCAGGAATTGCTGGG	0.323000													18	46					0	0	0.001216	0	0
KCNK13	56659	broad.mit.edu	37	14	90650623	90650623	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:90650623G>A	ENST00000282146.4	+	2	944	c.503G>A	c.(502-504)cGa>cAa	p.R168Q		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	168						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CTCCGGAGACGAGGGGCCCTG	0.607000													14	65					0	0	0.001855	0	0
ITIH1	3697	broad.mit.edu	37	3	52818369	52818369	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:52818369T>G	ENST00000273283.2	+	11	1307	c.1283T>G	c.(1282-1284)tTc>tGc	p.F428C	ITIH1_ENST00000542827.1_Missense_Mutation_p.F428C|ITIH1_ENST00000540715.1_Missense_Mutation_p.F286C|ITIH1_ENST00000537050.1_Missense_Mutation_p.F140C	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	428	Hyaluronan-binding.|VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CGGGGCAGGTTCCCGCTCTAC	0.582000													5	24					0	0	0.000602	0	0
FAM160B2	64760	broad.mit.edu	37	8	21955654	21955654	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:21955654G>A	ENST00000289921.7	+	6	647	c.601G>A	c.(601-603)Gac>Aac	p.D201N		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	201										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CAGCCACGGGGACAAGGACTG	0.597000													4	4					0	0	0.000248	0	0
STOX1	219736	broad.mit.edu	37	10	70645007	70645007	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:70645007C>T	ENST00000298596.6	+	3	1538	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S	STOX1_ENST00000399169.4_Silent_p.S485S|STOX1_ENST00000421961.2_Silent_p.S375S|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	485						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TGCTAGGTTCCCATTTGATTT	0.448000													7	44					0	0	0.001984	0	0
OR13C8	138802	broad.mit.edu	37	9	107331457	107331457	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:107331457G>A	ENST00000335040.1	+	1	9	c.9G>A	c.(7-9)agG>agA	p.R3R		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATATGGAAAGGACCAACGATT	0.398000													7	75					0	0	0.001984	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15884945	15884945	+	RNA	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:15884945C>T	ENST00000587443.2	-	0	384					NR_033864.1																						AGGCGGGCGTCAGCATCCGAC	0.552000													6	12					0	0	0.001984	0	0
ILDR2	387597	broad.mit.edu	37	1	166896409	166896409	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:166896409C>T	ENST00000271417.3	-	7	944	c.889G>A	c.(889-891)Ggt>Agt	p.G297S	ILDR2_ENST00000526687.1_Missense_Mutation_p.G189S|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.G238S|ILDR2_ENST00000525740.1_Missense_Mutation_p.G170S|ILDR2_ENST00000529071.1_Missense_Mutation_p.G278S|ILDR2_ENST00000469934.2_Missense_Mutation_p.G297S	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	297						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ATCCGGTAACCTTTGCGAACT	0.448000													15	109					0	0	0.006122	0	0
ARIH2	10425	broad.mit.edu	37	3	49020677	49020677	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:49020677C>T	ENST00000356401.4	+	16	1795	c.1456C>T	c.(1456-1458)Ctg>Ttg	p.L486L	ARIH2_ENST00000449376.1_Silent_p.L486L|RP13-131K19.1_ENST00000415982.1_RNA|RP13-131K19.1_ENST00000429681.1_RNA	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	486					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GAGGAGAACCCTGCTGAAAGA	0.562000													41	187					0	0	0.003214	0	0
TMX1	81542	broad.mit.edu	37	14	51716269	51716269	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:51716269C>T	ENST00000457354.2	+	6	698	c.573C>T	c.(571-573)tcC>tcT	p.S191S		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	191					anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						CTCTGTTTTCCGGACTGTTAT	0.328000													34	117					0	0	0.003271	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430958	37430958	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:37430958G>A	ENST00000374660.1	+	7	1064	c.965G>A	c.(964-966)gGa>gAa	p.G322E	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G322E|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G322E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	378						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			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						CCAGCAAAAGGAAGACCTAGG	0.433000													16	61					0	0	0.006122	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169566	90169566	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:90169566G>A	ENST00000333209.3	-	2	2214	c.1696C>T	c.(1696-1698)Cct>Tct	p.P566S		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	566										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGGGATTTAGGATTGAGCAGT	0.468000													13	56					0	0	0.001855	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077096	45077096	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:45077096G>A	ENST00000296130.4	+	3	469	c.289G>A	c.(289-291)Gac>Aac	p.D97N	CLEC3B_ENST00000428034.1_Missense_Mutation_p.D55N|CLEC3B_ENST00000490386.1_3'UTR	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	97	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCAGCGAGGACTGCATCTC	0.632000													6	45					0	0	0.001984	0	0
ST13	6767	broad.mit.edu	37	22	41223122	41223122	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:41223122G>A	ENST00000216218.3	-	11	1440	c.959C>T	c.(958-960)cCa>cTa	p.P320L		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	320	STI1.						protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						AAGAACCTCTGGATCACTAAG	0.458000													21	44					0	0	0.001882	0	0
ITGB5	3693	broad.mit.edu	37	3	124540214	124540214	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:124540214G>A	ENST00000296181.4	-	6	1184	c.888C>T	c.(886-888)caC>caT	p.H296H	ITGB5_ENST00000488466.1_Intron	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	296	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		ACTGGCCATCGTGTGGCTGCA	0.567000													7	30					0	0	0.004482	0	0
EMR1	2015	broad.mit.edu	37	19	6921867	6921867	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:6921867C>T	ENST00000312053.4	+	14	1801	c.1764C>T	c.(1762-1764)gcC>gcT	p.A588A	EMR1_ENST00000250572.8_Silent_p.A588A|EMR1_ENST00000450315.3_Silent_p.A411A|EMR1_ENST00000381407.5_Silent_p.A447A|EMR1_ENST00000381404.4_Silent_p.A536A	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	588	GPS.|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CAAATCTTGCCGTTATCATGG	0.463000													21	72					0	0	0.002780	0	0
ACE	1636	broad.mit.edu	37	17	61568324	61568324	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:61568324G>A	ENST00000577647.1	+	7	974	c.929G>A	c.(928-930)tGg>tAg	p.W310*	ACE_ENST00000428043.1_Nonsense_Mutation_p.W884*|ACE_ENST00000290866.4_Nonsense_Mutation_p.W884*|ACE_ENST00000490216.2_Nonsense_Mutation_p.W310*|ACE_ENST00000290863.6_Nonsense_Mutation_p.W310*|ACE_ENST00000421982.2_Nonsense_Mutation_p.W130*|ACE_ENST00000413513.3_Nonsense_Mutation_p.W310*			P12821	ACE_HUMAN	angiotensin I converting enzyme	884	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGGAACATGTGGGCGCAGACC	0.582000													23	96					0	0	0.001061	0	0
COL4A4	1286	broad.mit.edu	37	2	227896735	227896735	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:227896735C>T	ENST00000396625.3	-	40	3950	c.3743G>A	c.(3742-3744)gGa>gAa	p.G1248E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1248E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1248	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGAGCTCTTCCTGTGGCACC	0.498000													9	33					0	0	0.000443	0	0
ZNF132	7691	broad.mit.edu	37	19	58945209	58945209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:58945209C>T	ENST00000254166.3	-	3	2002	c.1602G>A	c.(1600-1602)tgG>tgA	p.W534*		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	534						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TGTGAATTCTCCAGTGCTGAA	0.498000													8	34					0	0	0.000978	0	0
GRIA1	2890	broad.mit.edu	37	5	153149862	153149862	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:153149862G>A	ENST00000285900.5	+	13	2500	c.2157G>A	c.(2155-2157)gaG>gaA	p.E719E	GRIA1_ENST00000518142.1_Silent_p.E639E|GRIA1_ENST00000448073.4_Silent_p.E729E|GRIA1_ENST00000521843.2_Silent_p.E650E|GRIA1_ENST00000340592.5_Silent_p.E719E|GRIA1_ENST00000518783.1_Silent_p.E729E	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	719					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCTCCTGGAGTCCACCATGA	0.498000													7	20					0	0	0.001984	0	0
TMPO	7112	broad.mit.edu	37	12	98938241	98938241	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:98938241C>T	ENST00000556029.1	+	6	1161	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Missense_Mutation_p.R229C	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	269	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	p.R269C(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGAACATTTTCGTATAGATGG	0.303000													7	20					0	0	0.004482	0	0
ETV4	2118	broad.mit.edu	37	17	41607273	41607273	+	Missense_Mutation	SNP	C	C	G	rs147888887	by1000genomes	TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:41607273C>G	ENST00000319349.5	-	10	1232	c.934G>C	c.(934-936)Gtt>Ctt	p.V312L	ETV4_ENST00000545089.1_Missense_Mutation_p.V258L|ETV4_ENST00000545954.1_Missense_Mutation_p.V273L|ETV4_ENST00000586826.1_Missense_Mutation_p.V35L|ETV4_ENST00000393664.2_Missense_Mutation_p.V312L|ETV4_ENST00000591713.1_Missense_Mutation_p.V312L|ETV4_ENST00000538265.1_Missense_Mutation_p.V273L	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	312					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		TCAGGGACAACGCAGACATCA	0.512000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								35	158					0	0	0.001951	0	0
BAZ2A	11176	broad.mit.edu	37	12	57003922	57003922	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:57003922G>A	ENST00000179765.5	-	10	1966	c.1767C>T	c.(1765-1767)ttC>ttT	p.F589F	BAZ2A_ENST00000549884.1_Silent_p.F619F|BAZ2A_ENST00000551812.1_Silent_p.F621F|BAZ2A_ENST00000379441.3_Silent_p.F591F			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	621	MBD.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TTTCTTCAAAGAAATCTCCAA	0.512000													14	102					0	0	0.004007	0	0
NPAP1	23742	broad.mit.edu	37	15	24922699	24922699	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:24922699C>T	ENST00000329468.2	+	1	2159	c.1685C>T	c.(1684-1686)tCt>tTt	p.S562F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACAAACGCATCTGCCCACCTA	0.483000													28	78					0	0	0.004656	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281594	103281594	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:103281594G>A	ENST00000233969.2	+	3	931	c.789G>A	c.(787-789)atG>atA	p.M263I		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	263						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTTGCCAGATGAAAACCATTG	0.463000													28	86					0	0	0.001271	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134471706	134471706	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:134471706C>A	ENST00000372195.1	-	14	2404	c.2161G>T	c.(2161-2163)Gct>Tct	p.A721S	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.A704S|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.A722S			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	704	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTCTCAGTAGCATGGACCAGT	0.592000													10	28					6.40141e-05	0.000135194	0.000978	1	0
NFASC	23114	broad.mit.edu	37	1	204938097	204938097	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:204938097G>A	ENST00000367172.4	+	10	1318	c.990G>A	c.(988-990)tcG>tcA	p.S330S	NFASC_ENST00000338586.6_Silent_p.S330S|NFASC_ENST00000401399.1_Silent_p.S330S|NFASC_ENST00000513543.1_Silent_p.S341S|NFASC_ENST00000404907.1_Silent_p.S341S|NFASC_ENST00000403080.1_Silent_p.S330S|NFASC_ENST00000367169.4_Silent_p.S330S|NFASC_ENST00000404076.1_Silent_p.S324S|NFASC_ENST00000539706.1_Silent_p.S341S|NFASC_ENST00000338515.6_Silent_p.S330S|NFASC_ENST00000367170.4_Silent_p.S330S|NFASC_ENST00000339876.6_Silent_p.S330S|NFASC_ENST00000367171.4_Silent_p.S330S|NFASC_ENST00000360049.4_Silent_p.S341S			O94856	NFASC_HUMAN	neurofascin	330	Ig-like C2-type 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACACGATCTCGGTGAGAGTAA	0.512000													4	29					0	0	0.001168	0	0
GPSM3	63940	broad.mit.edu	37	6	32159488	32159488	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:32159488G>T	ENST00000375040.3	-	3	735	c.343C>A	c.(343-345)Cag>Aag	p.Q115K	GPSM3_ENST00000375043.3_Missense_Mutation_p.Q115K|GPSM3_ENST00000487761.1_Missense_Mutation_p.Q112K	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	115	GoLoco 2.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						TGTCTTACCTGGTGACTGAGG	0.597000													6	215					0.00198382	0.00415867	0.001984	1	0
SLAMF7	57823	broad.mit.edu	37	1	160720137	160720137	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:160720137C>T	ENST00000368043.3	+	4	730	c.693C>T	c.(691-693)ctC>ctT	p.L231L	SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000368042.3_Silent_p.L124L|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000359331.4_Silent_p.L231L	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	231					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCCTGTGTCTCCTGTTGGTGC	0.507000													82	158					0	0	0.003610	0	0
C17orf75	64149	broad.mit.edu	37	17	30661605	30661605	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:30661605G>A	ENST00000577809.1	-	8	803	c.754C>T	c.(754-756)Ctt>Ttt	p.L252F	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.L252F	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	252					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGTCCTTGAAGACTGGCCACA	0.478000													4	19					0	0	0.000248	0	0
COL6A3	1293	broad.mit.edu	37	2	238287836	238287836	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:238287836G>A	ENST00000295550.4	-	6	2392	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	COL6A3_ENST00000409809.1_Missense_Mutation_p.S441L|COL6A3_ENST00000353578.4_Missense_Mutation_p.S441L|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.S240L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S446L|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392004.3_Missense_Mutation_p.S441L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	647	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AACGTTGGCTGATCCATCCAA	0.378000													9	36					0	0	0.000978	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68115390	68115390	+	Silent	SNP	A	A	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:68115390A>G	ENST00000262215.3	-	36	5445	c.5056T>C	c.(5056-5058)Tta>Cta	p.L1686L	ARFGEF1_ENST00000520381.1_Silent_p.L1140L|ARFGEF1_ENST00000518230.1_Silent_p.L524L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1686					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GACTCTAATAAGCAGTCCAGT	0.423000													34	39					0	0	0.003755	0	0
SCN8A	6334	broad.mit.edu	37	12	52168020	52168020	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:52168020C>T	ENST00000354534.5	+	20	3871	c.3693C>T	c.(3691-3693)atC>atT	p.I1231I	SCN8A_ENST00000545061.1_Silent_p.I1231I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1231					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCCGCACCATCCTGGAATATG	0.498000													8	43					0	0	0.003080	0	0
TRIM14	9830	broad.mit.edu	37	9	100857227	100857227	+	Missense_Mutation	SNP	C	C	G	rs149392923		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:100857227C>G	ENST00000341469.2	-	4	631	c.622G>C	c.(622-624)Gtc>Ctc	p.V208L	TRIM14_ENST00000375098.3_Missense_Mutation_p.V208L|TRIM14_ENST00000342043.3_Missense_Mutation_p.V208L	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	208						cytoplasm|intracellular	zinc ion binding	p.V208I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AAGCTCTTGACGGGCTCAAAG	0.582000													23	69					0	0	0.003330	0	0
SLC9A2	6549	broad.mit.edu	37	2	103299780	103299780	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:103299780C>T	ENST00000233969.2	+	4	1207	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	355						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CTCAGAAATCCTACACGACCA	0.418000													15	63					0	0	0.003163	0	0
OR2J2	26707	broad.mit.edu	37	6	29141611	29141611	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:29141611C>T	ENST00000377167.2	+	1	301	c.199C>T	c.(199-201)Ctc>Ttc	p.L67F		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CCTTTCAAACCTCTCATTTCT	0.493000													6	97					0	0	0.001984	0	0
PCNXL3	399909	broad.mit.edu	37	11	65402031	65402031	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:65402031C>T	ENST00000355703.3	+	29	5263	c.4724C>T	c.(4723-4725)tCc>tTc	p.S1575F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1575						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GATTGGAACTCCCCGCTGGTC	0.662000													6	11					0	0	0.003080	0	0
ACOT4	122970	broad.mit.edu	37	14	74062179	74062179	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:74062179G>A	ENST00000326303.4	+	3	1341	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	363					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GCATTACATCGAGCCTCCTTA	0.517000													19	50					0	0	0.006122	0	0
PLK1	5347	broad.mit.edu	37	16	23695367	23695367	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:23695367C>T	ENST00000300093.4	+	5	1104	c.993C>T	c.(991-993)agC>agT	p.S331S		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	331					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CTCCCAGCAGCCTGGACCCCA	0.547000													18	127					0	0	0.000958	0	0
GLYAT	10249	broad.mit.edu	37	11	58482865	58482865	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:58482865C>T	ENST00000344743.3	-	3	254	c.113G>A	c.(112-114)gGa>gAa	p.G38E	GLYAT_ENST00000529732.1_Missense_Mutation_p.G38E|GLYAT_ENST00000278400.3_Missense_Mutation_p.G38E	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	38					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GAATGGATTTCCATGGTTTAT	0.398000													5	17					0	0	0.000602	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190975	42190975	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:42190975C>T	ENST00000006724.3	-	2	443	c.242G>A	c.(241-243)gGa>gAa	p.G81E	CEACAM7_ENST00000602225.1_Missense_Mutation_p.G81E|CEACAM7_ENST00000338196.4_Missense_Mutation_p.G81E|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.G81E	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	81	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TTTTACATATCCTATAATTCG	0.463000													38	121					0	0	0.004878	0	0
CABIN1	23523	broad.mit.edu	37	22	24574103	24574103	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:24574103C>T	ENST00000398319.2	+	37	6987	c.6602C>T	c.(6601-6603)tCc>tTc	p.S2201F	CABIN1_ENST00000405822.2_Missense_Mutation_p.S2122F|CABIN1_ENST00000337989.7_Missense_Mutation_p.S571F|CABIN1_ENST00000263119.5_Missense_Mutation_p.S2201F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2201					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGGAGACATCCAGCCAGGAG	0.652000													13	53					0	0	0.001855	0	0
OR4K1	79544	broad.mit.edu	37	14	20404563	20404563	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:20404563G>A	ENST00000285600.4	+	1	797	c.738G>A	c.(736-738)gtG>gtA	p.V246V		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ACATCACAGTGGTCATTCTTT	0.413000													19	79					0	0	0.001523	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316689	30316689	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:30316689C>T	ENST00000375377.1	-	3	2489	c.2388G>A	c.(2386-2388)ggG>ggA	p.G796G		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	796								p.G796>?(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCCGCTTAGGCCCAGGGTGGG	0.627000													31	91					0	0	0.001287	0	0
OR13C8	138802	broad.mit.edu	37	9	107331456	107331456	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:107331456G>A	ENST00000335040.1	+	1	8	c.8G>A	c.(7-9)aGg>aAg	p.R3K		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AATATGGAAAGGACCAACGAT	0.398000													7	74					0	0	0.001984	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360350	55360350	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:55360350A>G	ENST00000398661.2	-	8	883	c.752T>C	c.(751-753)aTt>aCt	p.I251T	HMGCLL1_ENST00000274901.4_Missense_Mutation_p.I221T|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.I118T|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.I189T	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	251							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCCCACTCCAATTGTGTCTCC	0.418000													18	28					0	0	0.000958	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802259	185802259	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:185802259G>A	ENST00000302277.6	+	4	2730	c.2136G>A	c.(2134-2136)ggG>ggA	p.G712G		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	712						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TACATTCTGGGAAACATAATT	0.308000													9	30					0	0	0.004482	0	0
LECT2	3950	broad.mit.edu	37	5	135283141	135283141	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:135283141C>T	ENST00000274507.1	-	4	535	c.335G>A	c.(334-336)gGt>gAt	p.G112D	LECT2_ENST00000512872.1_Missense_Mutation_p.G40D|LECT2_ENST00000522943.1_Intron|LECT2_ENST00000471827.1_Intron|FBXL21_ENST00000467490.1_RNA	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	112					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTAATAGGACCTTTATACTT	0.338000													7	37					0	0	0.001984	0	0
RUSC2	9853	broad.mit.edu	37	9	35558458	35558458	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:35558458G>A	ENST00000455600.1	+	8	3804		c.e8-1			NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2							cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTTCCTCCCAGGCCCATCCAC	0.572000													30	163					0	0	0.003755	0	0
PELP1	27043	broad.mit.edu	37	17	4576956	4576956	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:4576956G>A	ENST00000301396.4	-	14	2253	c.2028C>T	c.(2026-2028)acC>acT	p.T676T	PELP1_ENST00000269230.7_Intron|PELP1_ENST00000572293.1_Silent_p.T582T|PELP1_ENST00000436683.2_Silent_p.T385T|PELP1_ENST00000574876.1_Silent_p.T532T			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	532	Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						ACATGAGGATGGTCCGGCTGA	0.567000													16	64					0	0	0.004007	0	0
DUSP26	78986	broad.mit.edu	37	8	33454954	33454954	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:33454954C>T	ENST00000256261.4	-	2	597	c.80G>A	c.(79-81)cGa>cAa	p.R27Q	DUSP26_ENST00000523956.1_Missense_Mutation_p.R27Q	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	27						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CCCTCGAGTTCGAACAGGAGA	0.537000													17	45					0	0	0.000958	0	0
LRCH4	4034	broad.mit.edu	37	7	100179450	100179450	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:100179450G>A	ENST00000310300.6	-	4	600	c.548C>T	c.(547-549)tCc>tTc	p.S183F	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	183					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCCCGCAGGGAAGAGAGGCC	0.587000													11	36					0	0	0.000978	0	0
CCR2	729230	broad.mit.edu	37	3	46399721	46399721	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:46399721G>A	ENST00000292301.4	+	2	1188	c.703G>A	c.(703-705)Gag>Aag	p.E235K	CCR2_ENST00000445132.2_Missense_Mutation_p.E235K|CCR2_ENST00000400888.2_Missense_Mutation_p.E235K|CCR2_ENST00000465202.1_3'UTR	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	235					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GTGTCGAAACGAGAAGAAGAG	0.468000													45	188					0	0	0.003610	0	0
SUCO	51430	broad.mit.edu	37	1	172522443	172522443	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:172522443C>T	ENST00000263688.3	+	3	440	c.221C>T	c.(220-222)tCa>tTa	p.S74L	SUCO_ENST00000367723.3_Intron	NM_014283.3	NP_055098.1			SUN domain containing ossification factor																		TTGGGAAAATCAGGTTCAAAT	0.303000													36	96					0	0	0.001287	0	0
ABCC3	8714	broad.mit.edu	37	17	48762092	48762092	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:48762092C>T	ENST00000285238.8	+	29	4216	c.4136C>T	c.(4135-4137)aCc>aTc	p.T1379I		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1379	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTCTCGGGGACCCTGCGCATG	0.617000													13	74					0	0	0.002450	0	0
SKIV2L	6499	broad.mit.edu	37	6	31929757	31929757	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:31929757C>T	ENST00000375394.2	+	10	1103	c.990C>T	c.(988-990)gtC>gtT	p.V330V	SKIV2L_ENST00000544581.1_Silent_p.V137V	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	330	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTGTCTTTGTCGCAGCTCACA	0.507000													191	323					0	0	0.003610	0	0
ALDH3B2	222	broad.mit.edu	37	11	67432756	67432756	+	Splice_Site	SNP	C	C	T	rs142113776	byFrequency	TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:67432756C>T	ENST00000349015.3	-	7	1144	c.706_splice	c.e7+1	p.A236_splice	ALDH3B2_ENST00000530069.1_Splice_Site_p.A236_splice	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	236					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CAGGACTCACCGATGTAGCGA	0.642000													19	59					0	0	0.001216	0	0
CCDC110	256309	broad.mit.edu	37	4	186380657	186380657	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:186380657G>A	ENST00000307588.3	-	6	1159	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S	CCDC110_ENST00000510617.1_Missense_Mutation_p.P362S|CCDC110_ENST00000393540.3_Missense_Mutation_p.P325S	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	362						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CCAGTGATGGGAATTTCTTTA	0.323000													24	81					0	0	0.002780	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655749	138655749	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:138655749G>A	ENST00000251691.4	+	33	5932	c.5766G>A	c.(5764-5766)ctG>ctA	p.L1922L		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1922					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACTTGGACCTGGAGAACTGTA	0.572000													5	45					0	0	0.001168	0	0
GDAP1	54332	broad.mit.edu	37	8	75276235	75276235	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:75276235C>T	ENST00000220822.7	+	6	790	c.710C>T	c.(709-711)cCt>cTt	p.P237L	GDAP1_ENST00000434412.2_Missense_Mutation_p.P169L|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	237	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			GGCCAGCAACCTTGGCTCTGC	0.512000													35	29					0	0	0.002836	0	0
RELN	5649	broad.mit.edu	37	7	103202103	103202103	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:103202103G>A	ENST00000428762.1	-	36	5564	c.5405C>T	c.(5404-5406)tCg>tTg	p.S1802L	RELN_ENST00000343529.5_Missense_Mutation_p.S1802L|RELN_ENST00000424685.2_Missense_Mutation_p.S1802L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1802					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.S1802L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTTAAGAATCGAGGGCAGAGG	0.463000													5	19					0	0	0.000602	0	0
IPO9	55705	broad.mit.edu	37	1	201828048	201828048	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:201828048T>G	ENST00000361565.4	+	13	1463	c.1394T>G	c.(1393-1395)gTg>gGg	p.V465G		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	465					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ACTGACAGTGTGAAAAATGGC	0.473000													11	53					0	0	0.000978	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122788	12122788	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:12122788T>G	ENST00000379388.2	+	4	3092	c.2760T>G	c.(2758-2760)gaT>gaG	p.D920E		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	920					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGTCCCTGGATGAGAGCCACC	0.507000													11	34					0	0	0.000673	0	0
SUN5	140732	broad.mit.edu	37	20	31573551	31573551	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr20:31573551G>A	ENST00000356173.3	-	11	980	c.888C>T	c.(886-888)ttC>ttT	p.F296F	SUN5_ENST00000375523.3_Silent_p.F271F	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	296	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CATAGATGACGAAGTCCTTGG	0.537000													8	42					0	0	0.000443	0	0
KIF21A	55605	broad.mit.edu	37	12	39696939	39696939	+	Splice_Site	SNP	T	T	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:39696939T>G	ENST00000395670.3	-	35	4983		c.e35-2		KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATCAAACATCTAAAAAGGTAG	0.378000													5	22					0	0	0.001168	0	0
SCAF4	57466	broad.mit.edu	37	21	33060664	33060664	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr21:33060664G>A	ENST00000286835.7	-	16	2381	c.1999C>T	c.(1999-2001)Cct>Tct	p.P667S	SCAF4_ENST00000434667.3_Missense_Mutation_p.P652S|SCAF4_ENST00000399804.1_Missense_Mutation_p.P667S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	667						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGAATAGGAGGGACAGGCACA	0.448000													19	107					0	0	0.001882	0	0
ESRRB	2103	broad.mit.edu	37	14	76905728	76905728	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:76905728G>A	ENST00000380887.2	+	2	104	c.32G>A	c.(31-33)aGc>aAc	p.S11N	ESRRB_ENST00000509242.1_Missense_Mutation_p.S11N|ESRRB_ENST00000261532.7_Missense_Mutation_p.S11N|ESRRB_ENST00000556177.1_Missense_Mutation_p.S11N|ESRRB_ENST00000507951.1_3'UTR			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	11						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CTGGGCTCCAGCTGCGGCTCC	0.667000													15	68					0	0	0.004007	0	0
PRRC2A	7916	broad.mit.edu	37	6	31593278	31593278	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:31593278G>T	ENST00000376033.2	+	7	883	c.649G>T	c.(649-651)Gag>Tag	p.E217*	PRRC2A_ENST00000376007.4_Nonsense_Mutation_p.E217*|PRRC2A_ENST00000469577.1_3'UTR	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	217	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGGCCCTGATGAGCTGGAGGG	0.552000													16	90					1.15088e-07	2.43969e-07	0.004007	1	0
LPPR1	54886	broad.mit.edu	37	9	104079699	104079699	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:104079699C>T	ENST00000374874.3	+	7	1305	c.866C>T	c.(865-867)cCc>cTc	p.P289L	LPPR1_ENST00000395056.2_Missense_Mutation_p.P289L	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		289						integral to membrane	catalytic activity										CCTTCCAAACCCAAGCCTGAG	0.488000													40	166					0	0	0.001706	0	0
TNN	63923	broad.mit.edu	37	1	175097807	175097807	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:175097807C>T	ENST00000239462.4	+	15	3368	c.3255C>T	c.(3253-3255)acC>acT	p.T1085T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1085	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTCTGTACACCATCTACCTGC	0.597000													33	81					0	0	0.002836	0	0
XDH	7498	broad.mit.edu	37	2	31562483	31562483	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:31562483G>A	ENST00000379416.3	-	34	3694	c.3646C>T	c.(3646-3648)Ccc>Tcc	p.P1216S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1216					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTCCCCTCGGGGGAATAGTGT	0.612000													9	54					0	0	0.000673	0	0
NOC2L	26155	broad.mit.edu	37	1	880950	880950	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:880950G>A	ENST00000327044.6	-	17	2050	c.2001C>T	c.(1999-2001)ctC>ctT	p.L667L		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	667	Asp/Glu-rich (acidic).					nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCAGGTCAAAGAGGTCTTTAA	0.562000													15	56					0	0	0.003163	0	0
WDR96	80217	broad.mit.edu	37	10	105938826	105938826	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:105938826C>T	ENST00000357060.3	-	19	2536	c.2421G>A	c.(2419-2421)agG>agA	p.R807R	WDR96_ENST00000278064.2_Silent_p.R738R|WDR96_ENST00000428666.1_Silent_p.R808R	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	807										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						TTATCTCTTTCCTTTTCTTGG	0.323000													8	30					0	0	0.003080	0	0
HCK	3055	broad.mit.edu	37	20	30672196	30672196	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr20:30672196G>A	ENST00000534862.1	+	9	988	c.625G>A	c.(625-627)Ggg>Agg	p.G209R	HCK_ENST00000375862.2_Missense_Mutation_p.G228R|HCK_ENST00000538448.1_Missense_Mutation_p.G208R|HCK_ENST00000520553.1_Missense_Mutation_p.G208R|HCK_ENST00000518730.1_Missense_Mutation_p.G207R|HCK_ENST00000375852.2_Missense_Mutation_p.G229R	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	229	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGTTCCAGAGGGGAACGACGG	0.597000													4	13					0	0	0.000602	0	0
PTGS1	5742	broad.mit.edu	37	9	125154661	125154661	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:125154661G>A	ENST00000362012.2	+	11	1643	c.1638G>A	c.(1636-1638)ccG>ccA	p.P546P	PTGS1_ENST00000540753.1_Silent_p.P484P|PTGS1_ENST00000373698.5_Silent_p.P437P|PTGS1_ENST00000223423.4_Silent_p.P509P	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	546					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	ACTGGAAGCCGAGCACATTTG	0.527000													21	91					0	0	0.002299	0	0
COL4A1	1282	broad.mit.edu	37	13	110831344	110831344	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr13:110831344G>A	ENST00000375820.4	-	31	2505	c.2384C>T	c.(2383-2385)tCt>tTt	p.S795F		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	795	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AACTCCTGGAGACCCCACGGA	0.587000													4	21					0	0	0.000248	0	0
RCSD1	92241	broad.mit.edu	37	1	167666945	167666945	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:167666945C>T	ENST00000367854.3	+	6	1415	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S	RCSD1_ENST00000537350.1_Missense_Mutation_p.P332S	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	362										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CGGAGATGTCCCCAAGCAGGA	0.607000													4	20					0	0	0.001168	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134471703	134471703	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:134471703T>A	ENST00000372195.1	-	14	2407	c.2164A>T	c.(2164-2166)Act>Tct	p.T722S	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.T705S|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.T723S			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	705	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TCAGTCTCAGTAGCATGGACC	0.597000													10	29					0	0	0.000978	0	0
MYO18A	399687	broad.mit.edu	37	17	27493524	27493524	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:27493524G>A	ENST00000527372.1	-	2	615	c.435C>T	c.(433-435)agC>agT	p.S145S	MYO18A_ENST00000533112.1_Silent_p.S145S|MYO18A_ENST00000531253.1_Silent_p.S145S|MYO18A_ENST00000354329.4_Silent_p.S145S	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	145					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCTCATCCCGGCTACGCTGGG	0.627000													10	19					0	0	0.000673	0	0
BBS1	582	broad.mit.edu	37	11	66283164	66283164	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:66283164G>A	ENST00000419755.3	+	6	669	c.590_splice	c.e6-1	p.R197_splice	BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000455748.2_Intron|BBS1_ENST00000393994.2_Splice_Site_p.R160_splice|BBS1_ENST00000318312.7_Splice_Site_p.R160_splice|BBS1_ENST00000537537.1_Splice_Site_p.R48_splice																							TTCCTTGCAGGGAGACGGCAG	0.622000													15	49					0	0	0.006122	0	0
CACNG2	10369	broad.mit.edu	37	22	36983516	36983516	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:36983516G>A	ENST00000300105.6	-	2	1272	c.291C>T	c.(289-291)ttC>ttT	p.F97F		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	97					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						ACTCACGGAGGAAATATTCTG	0.512000													26	118					0	0	0.001061	0	0
FNDC7	163479	broad.mit.edu	37	1	109270531	109270531	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:109270531G>A	ENST00000370017.3	+	7	1490	c.1213G>A	c.(1213-1215)Gct>Act	p.A405T	FNDC7_ENST00000271311.2_Missense_Mutation_p.A406T	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	406	Fibronectin type-III 5.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TGAAACCAAGGCTGTAGATGG	0.498000													21	67					0	0	0.001523	0	0
KBTBD6	89890	broad.mit.edu	37	13	41706525	41706525	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr13:41706525C>A	ENST00000379485.1	-	1	357	c.123G>T	c.(121-123)aaG>aaT	p.K41N	KBTBD6_ENST00000499385.2_Missense_Mutation_p.K41N	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	41							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GGGCCGTGTCCTTTAATTCCT	0.607000													25	90					1.66031e-10	3.53948e-10	0.003954	1	0
MBOAT1	154141	broad.mit.edu	37	6	20124763	20124763	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:20124763G>A	ENST00000541730.1	-	7	931	c.336C>T	c.(334-336)acC>acT	p.T112T	MBOAT1_ENST00000324607.7_Silent_p.T261T			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	261					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TGACAGGAAAGGTCTTCGTTA	0.478000													15	94					0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179395249	179395249	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:179395249C>T	ENST00000589042.1	-	358	106317	c.106093G>A	c.(106093-106095)Ggt>Agt	p.G35365S	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G33724S|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G26425S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G32797S|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G26300S|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G26492S|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33724							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)			GACGTTCCACCTTCACCAGAA	0.358000													13	54					0	0	0.003163	0	0
GSG1	83445	broad.mit.edu	37	12	13241841	13241841	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:13241841C>T	ENST00000337630.6	-	3	395	c.328G>A	c.(328-330)Gag>Aag	p.E110K	GSG1_ENST00000432710.2_Missense_Mutation_p.E123K|GSG1_ENST00000324458.8_Missense_Mutation_p.E146K|GSG1_ENST00000351606.6_Missense_Mutation_p.E146K|GSG1_ENST00000457134.2_Missense_Mutation_p.E110K|GSG1_ENST00000396310.2_Missense_Mutation_p.E130K|GSG1_ENST00000537302.1_Missense_Mutation_p.E133K|GSG1_ENST00000396302.3_Missense_Mutation_p.E110K	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	133						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		CGGCACCTCTCCCCTGAAACA	0.517000													7	43					0	0	0.004482	0	0
AGRN	375790	broad.mit.edu	37	1	979730	979730	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:979730G>A	ENST00000379370.2	+	12	2215	c.2165G>A	c.(2164-2166)gGg>gAg	p.G722E		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	722	Kazal-like 8.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.G722V(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGCTCAGATGGGGTCACCTAC	0.692000													5	20					0	0	0.001984	0	0
GBA3	57733	broad.mit.edu	37	4	22729317	22729317	+	RNA	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:22729317G>A	ENST00000508166.1	+	0	160				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGAAGATGGAGAGACCACTGA	0.408000													28	51					0	0	0.001061	0	0
KCNT1	57582	broad.mit.edu	37	9	138678108	138678108	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:138678108C>T	ENST00000298480.5	+	29	3317	c.3243C>T	c.(3241-3243)tcC>tcT	p.S1081S	KCNT1_ENST00000490355.2_Silent_p.S1059S|KCNT1_ENST00000491806.2_Silent_p.S1046S|KCNT1_ENST00000488444.2_Silent_p.S1060S|KCNT1_ENST00000487664.1_Silent_p.S1036S|KCNT1_ENST00000486577.2_Silent_p.S1038S|KCNT1_ENST00000371757.2_Silent_p.S1081S|KCNT1_ENST00000263604.3_Silent_p.S1055S			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	1081						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTGGGGCTCCCGCGCTGGCA	0.731000													9	17					0	0	0.000978	0	0
TRIT1	54802	broad.mit.edu	37	1	40313247	40313247	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:40313247C>T	ENST00000316891.5	-	7	915	c.901G>A	c.(901-903)Gag>Aag	p.E301K	TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.E219K|TRIT1_ENST00000545233.1_Missense_Mutation_p.E55K|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.E301K	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	301					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTACTAGTCTCCAGTGTGCAT	0.458000													23	104					0	0	0.003954	0	0
NUP210	23225	broad.mit.edu	37	3	13360633	13360633	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:13360633G>A	ENST00000254508.5	-	39	5584	c.5502C>T	c.(5500-5502)ccC>ccT	p.P1834P		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1834					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAAGATCCCGGGGCGTGCAGA	0.642000													9	26					0	0	0.000673	0	0
PLD1	5337	broad.mit.edu	37	3	171321004	171321004	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:171321004G>T	ENST00000356327.5	-	26	3045	c.2975C>A	c.(2974-2976)cCc>cAc	p.P992H	PLD1_ENST00000351298.4_Missense_Mutation_p.P1030H|PLD1_ENST00000342215.6_3'UTR	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	1030					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGCTCGAATGGGATCTTCCTT	0.433000													11	37					5.16669e-11	1.10353e-10	0.000978	1	0
OR5B3	441608	broad.mit.edu	37	11	58170825	58170825	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:58170825C>T	ENST00000309403.2	-	1	57	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACCTGCAGTTCTGAGTCATTG	0.403000													6	47					0	0	0.004482	0	0
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													4	71					0	0	0.001168	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130413953	130413953	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:130413953C>T	ENST00000529410.1	+	19	2061	c.1582C>T	c.(1582-1584)Cac>Tac	p.H528Y	L3MBTL3_ENST00000368139.2_Missense_Mutation_p.H503Y|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.H528Y|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.H503Y|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.H503Y|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.H528Y			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	528					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TCCTGATATTCACCCTGTAGG	0.403000													12	46					0	0	0.001855	0	0
WIPF2	147179	broad.mit.edu	37	17	38430097	38430097	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:38430097C>T	ENST00000323571.4	+	6	1266	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	WIPF2_ENST00000583130.1_Silent_p.P342P|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000536600.1_Silent_p.P84P|WIPF2_ENST00000585043.1_Silent_p.P342P|WIPF2_ENST00000394103.3_Silent_p.P84P	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	342	Poly-Pro.					cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CTCCCCCTCCCCCACCACCAT	0.612000										HNSCC(43;0.11)			10	39					0	0	0.000673	0	0
HLX	3142	broad.mit.edu	37	1	221058014	221058014	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:221058014G>A	ENST00000366903.6	+	4	2936	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	HLX_ENST00000549319.1_Missense_Mutation_p.E265K	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	479					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CAAAAGCCCCGAGCCAGCCCA	0.672000													11	24					0	0	0.001855	0	0
PCNXL2	80003	broad.mit.edu	37	1	233225933	233225933	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:233225933G>A	ENST00000258229.8	-	23	4184	c.3950C>T	c.(3949-3951)tCt>tTt	p.S1317F		NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1317						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AAGCATGGCAGAATCTGAGAA	0.323000													13	45					0	0	0.001855	0	0
RTN2	6253	broad.mit.edu	37	19	45997625	45997625	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:45997625G>A	ENST00000245923.4	-	4	848	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S	RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Missense_Mutation_p.P205S	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	205						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CTGAGCTGGGGAGTCAAGACC	0.612000													10	34					0	0	0.000978	0	0
DNAH9	1770	broad.mit.edu	37	17	11535913	11535913	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:11535913A>T	ENST00000262442.3	+	8	1596	c.1528A>T	c.(1528-1530)Aat>Tat	p.N510Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.N510Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	510	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGACTTTGAAAATGACGTCTC	0.393000													10	48					0	0	0.000673	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18657708	18657708	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:18657708G>A	ENST00000380548.4	+	8	1245	c.906G>A	c.(904-906)agG>agA	p.R302R	ADAMTSL1_ENST00000327883.7_Silent_p.R302R|ADAMTSL1_ENST00000276935.6_Silent_p.R302R|ADAMTSL1_ENST00000380566.4_Silent_p.R302R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	302						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ACCGATGGAGGGAGACGGATT	0.463000													8	58					0	0	0.000673	0	0
KRT12	3859	broad.mit.edu	37	17	39021105	39021105	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:39021105C>T	ENST00000251643.4	-	3	783	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	254	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				TTCAGGCTCTCGATCTGCATC	0.592000													25	95					0	0	0.003954	0	0
PPM1L	151742	broad.mit.edu	37	3	160786642	160786642	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:160786642C>T	ENST00000498165.1	+	4	881	c.780C>T	c.(778-780)atC>atT	p.I260I	PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Silent_p.I81I|PPM1L_ENST00000295839.9_Silent_p.I133I	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	260	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TCCAGGGAATCCTGGCCATGT	0.517000													15	27					0	0	0.003163	0	0
CNGB1	1258	broad.mit.edu	37	16	57996902	57996902	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:57996902G>C	ENST00000564448.1	-	5	417	c.357C>G	c.(355-357)caC>caG	p.H119Q	CNGB1_ENST00000311183.4_Missense_Mutation_p.H119Q|CNGB1_ENST00000251102.8_Missense_Mutation_p.H119Q			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	119					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCGTGATGCTGTGAACAGGCT	0.667000													5	51					0	0	0.001168	0	0
MRPL46	26589	broad.mit.edu	37	15	89003039	89003039	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:89003039G>A	ENST00000312475.4	-	4	686	c.645C>T	c.(643-645)ttC>ttT	p.F215F	MRPL46_ENST00000559538.1_5'UTR	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	215						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GGGGGAACTTGAATGTGTAGT	0.468000													11	34					0	0	0.000673	0	0
MYOM1	8736	broad.mit.edu	37	18	3214983	3214983	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr18:3214983G>A	ENST00000400569.3	-	2	572	c.239C>T	c.(238-240)tCt>tTt	p.S80F	MYOM1_ENST00000356443.4_Missense_Mutation_p.S80F|RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.S80F			P52179	MYOM1_HUMAN	myomesin 1	80						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACTGACTTCAGAGCTCAGGGC	0.672000													12	21					0	0	0.001855	0	0
CER1	9350	broad.mit.edu	37	9	14722533	14722533	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:14722533G>A	ENST00000380911.3	-	1	182	c.138C>T	c.(136-138)aaC>aaT	p.N46N		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	46					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CTTCCTCATGGTTGCCTGTGG	0.567000													14	71					0	0	0.002450	0	0
ACADSB	36	broad.mit.edu	37	10	124810604	124810604	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:124810604G>A	ENST00000358776.4	+	9	1044	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K	ACADSB_ENST00000368869.4_Missense_Mutation_p.E242K	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	344					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CACCCAGCTGGAAGCTGCAAG	0.458000													10	26					0	0	0.000978	0	0
CA14	23632	broad.mit.edu	37	1	150236068	150236068	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:150236068G>A	ENST00000369111.4	+	9	1822	c.852G>A	c.(850-852)tcG>tcA	p.S284S		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	284						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGATCCTCGTATACCACAG	0.542000													28	184					0	0	0.001512	0	0
PRG2	5553	broad.mit.edu	37	11	57157409	57157409	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:57157409G>A	ENST00000311862.5	-	2	82	c.9C>T	c.(7-9)ctC>ctT	p.L3L	PRG2_ENST00000525955.1_Silent_p.L3L|PRG2_ENST00000533605.1_Silent_p.L3L|RP11-872D17.8_ENST00000529411.1_Silent_p.L108L	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				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)		GAAGTAAGGGGAGTTTCATCT	0.428000													19	112					0	0	0.006122	0	0
SLC6A13	6540	broad.mit.edu	37	12	369078	369078	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:369078C>T	ENST00000343164.4	-	2	193	c.141G>A	c.(139-141)ggG>ggA	p.G47G	SLC6A13_ENST00000436453.1_Silent_p.G47G|SLC6A13_ENST00000445055.2_Silent_p.G47G	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	47					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CAATGATCTCCCCAGCCACTG	0.542000													30	161					0	0	0.002836	0	0
ZNF98	148198	broad.mit.edu	37	19	22585612	22585612	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:22585612C>T	ENST00000357774.5	-	3	353	c.232G>A	c.(232-234)Gag>Aag	p.E78K	ZNF98_ENST00000601553.1_Missense_Mutation_p.E78K	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTTACCATCTCATGTCTCTTC	0.413000													13	120					0	0	0.001855	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420829	55420829	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:55420829C>T	ENST00000242994.3	+	2	984	c.606C>T	c.(604-606)ttC>ttT	p.F202F		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	202					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCCACAACTTCAACTATCAGT	0.498000													13	47					0	0	0.001855	0	0
PCSK9	255738	broad.mit.edu	37	1	55512226	55512226	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:55512226G>A	ENST00000302118.5	+	3	720	c.430G>A	c.(430-432)Gag>Aag	p.E144K	PCSK9_ENST00000543384.1_Intron|PCSK9_ENST00000452118.2_Missense_Mutation_p.E144K	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	144					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CGACTACATCGAGGAGGACTC	0.597000													84	328					0	0	0.003610	0	0
SSTR1	6751	broad.mit.edu	37	14	38679658	38679658	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:38679658C>T	ENST00000267377.2	+	3	1681	c.1064C>T	c.(1063-1065)gCc>gTc	p.A355V		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	355					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GACTATTACGCCACCGCGCTC	0.582000													12	56					0	0	0.001368	0	0
CSMD3	114788	broad.mit.edu	37	8	114031299	114031299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:114031299G>A	ENST00000297405.5	-	6	1271	c.1027C>T	c.(1027-1029)Caa>Taa	p.Q343*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q303*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q343*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q343*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	343	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTATACCTTGATAGGGAGCA	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	92					0	0	0.002450	0	0
CYTH4	27128	broad.mit.edu	37	22	37708184	37708184	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:37708184G>A	ENST00000248901.6	+	12	1268	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	361	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CACCAGTGCCGAGGAACGTGA	0.612000													13	34					0	0	0.002450	0	0
SEC22A	26984	broad.mit.edu	37	3	122964853	122964853	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:122964853C>T	ENST00000309934.4	+	4	1545	c.649C>T	c.(649-651)Ctc>Ttc	p.L217F	SEC22A_ENST00000492595.1_Missense_Mutation_p.L217F|SEC22A_ENST00000481965.2_Intron	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	217					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		TATAGAAAGTCTCCTGCAGGT	0.388000													11	54					0	0	0.000673	0	0
YY1AP1	55249	broad.mit.edu	37	1	155630502	155630502	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:155630502G>A	ENST00000368340.5	-	10	1661	c.1553C>T	c.(1552-1554)cCc>cTc	p.P518L	YY1AP1_ENST00000295566.4_Missense_Mutation_p.P446L|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P369L|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P400L|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P400L|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P369L|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P246L|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P380L|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P400L|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P538L|YY1AP1_ENST00000361831.5_Missense_Mutation_p.P389L|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P389L	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGCCTTCTTGGGGAAACGGTC	0.527000													35	84					0	0	0.003271	0	0
CCL26	10344	broad.mit.edu	37	7	75401322	75401322	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:75401322C>T	ENST00000394905.2	-	3	331		c.e3-1		CCL26_ENST00000005180.4_Splice_Site	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26						cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			lung(3)	3						TCACTCCCACCTAAAAATCAG	0.552000													8	40					0	0	0.000673	0	0
PMM1	5372	broad.mit.edu	37	22	41979975	41979975	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:41979975G>A	ENST00000216259.7	-	5	546	c.462C>T	c.(460-462)tcC>tcT	p.S154S		NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	154					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						TGTCCAGTTCGGAGAACTCGA	0.512000													14	62					0	0	0.006122	0	0
IFNA16	3449	broad.mit.edu	37	9	21216974	21216974	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:21216974C>T	ENST00000380216.1	-	1	336	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	111					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGGAAAAGTTCAATGTAGAAT	0.488000													26	95					0	0	0.003954	0	0
C15orf39	56905	broad.mit.edu	37	15	75499697	75499697	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:75499697C>T	ENST00000360639.2	+	2	1628	c.1308C>T	c.(1306-1308)gcC>gcT	p.A436A	C15orf39_ENST00000567617.1_Silent_p.A436A|C15orf39_ENST00000394987.4_Silent_p.A436A			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	436										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CACAGGAAGCCGAAGAGAAGA	0.642000													10	47					0	0	0.000443	0	0
IGHG4	3503	broad.mit.edu	37	14	106090879	106090879	+	RNA	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:106090879G>A	ENST00000390543.2	-	0	917																											CATGCATCACGGAGCATGAGA	0.622000													27	174					0	0	0.005443	0	0
HHIPL1	84439	broad.mit.edu	37	14	100123373	100123373	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:100123373C>G	ENST00000330710.5	+	3	1037	c.939C>G	c.(937-939)caC>caG	p.H313Q	HHIPL1_ENST00000357223.2_Missense_Mutation_p.H313Q	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	313					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CCTCAAACCACAACGGGGGCC	0.532000													53	197					0	0	0.003610	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498622	118498622	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:118498622C>T	ENST00000361417.2	+	7	1494	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	PHLDB1_ENST00000356063.5_Silent_p.I361I	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	361										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGGTGGCCATCAGCCTGAGTG	0.632000													12	26					0	0	0.000978	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594277	140594277	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:140594277G>A	ENST00000341948.4	+	1	769	c.582G>A	c.(580-582)gaG>gaA	p.E194E		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		194	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATACCCAGAGCTGGTGCTGG	0.522000													8	41					0	0	0.000443	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715964	13715964	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:13715964G>A	ENST00000279593.3	-	13	4417	c.4208C>T	c.(4207-4209)tCc>tTc	p.S1403F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1403					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAAGAAGTAGGATTTGCTGCC	0.617000													18	17					0	0	0.001216	0	0
CACHD1	57685	broad.mit.edu	37	1	65129383	65129383	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:65129383C>T	ENST00000371073.2	+	14	1957	c.1957C>T	c.(1957-1959)Ccc>Tcc	p.P653S	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.P602S			Q5VU97	CAHD1_HUMAN	cache domain containing 1	653					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TTCAGAAAGTCCCACCATCAT	0.527000													36	184					0	0	0.004289	0	0
MYBPC3	4607	broad.mit.edu	37	11	47361206	47361206	+	Missense_Mutation	SNP	G	G	A	rs3729946		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:47361206G>A	ENST00000545968.1	-	21	2117	c.2063C>T	c.(2062-2064)aCg>aTg	p.T688M	MYBPC3_ENST00000399249.2_Missense_Mutation_p.T688M|MYBPC3_ENST00000256993.4_Missense_Mutation_p.T687M	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	687	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CAGTACCTGCGTGATAGCCTT	0.552000													4	3					0	0	0.000248	0	0
SPTBN5	51332	broad.mit.edu	37	15	42167048	42167048	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:42167048G>C	ENST00000320955.6	-	23	4721	c.4494C>G	c.(4492-4494)caC>caG	p.H1498Q		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1498					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACCTCCGGAGGTGCTTCTGGG	0.637000													9	15					0	0	0.000443	0	0
NEB	4703	broad.mit.edu	37	2	152520064	152520064	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:152520064C>T	ENST00000397345.3	-	45	5963	c.5761G>A	c.(5761-5763)Gat>Aat	p.D1921N	NEB_ENST00000603639.1_Missense_Mutation_p.D1921N|NEB_ENST00000604864.1_Missense_Mutation_p.D1921N|NEB_ENST00000409198.1_Missense_Mutation_p.D1921N|NEB_ENST00000172853.10_Missense_Mutation_p.D1921N|NEB_ENST00000427231.2_Missense_Mutation_p.D1921N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1921					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCACGTACATCACTTTGAATC	0.408000													4	19					0	0	0.000248	0	0
CACNA1H	8912	broad.mit.edu	37	16	1245940	1245940	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:1245940C>T	ENST00000348261.5	+	5	808	c.560C>T	c.(559-561)tCg>tTg	p.S187L	CACNA1H_ENST00000358590.4_Missense_Mutation_p.S187L|CACNA1H_ENST00000565831.1_Missense_Mutation_p.S187L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	187					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ATGGAGTACTCGTTGGACGGA	0.682000													16	50					0	0	0.006122	0	0
CAPN9	10753	broad.mit.edu	37	1	230907770	230907770	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:230907770G>A	ENST00000354537.1	+	7	882	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	CAPN9_ENST00000366666.2_Missense_Mutation_p.R204Q|CAPN9_ENST00000271971.2_Missense_Mutation_p.R267Q|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	267	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			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)				GTAAGCTTCCGAGGCCAGAGA	0.537000													16	110					0	0	0.004990	0	0
ABCD2	225	broad.mit.edu	37	12	40001459	40001459	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:40001459C>T	ENST00000308666.3	-	3	1313	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	393	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CAGTAAATTTCGAGCAGTGGT	0.323000													18	60					0	0	0.001523	0	0
ZNF705A	440077	broad.mit.edu	37	12	8330019	8330019	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:8330019G>A	ENST00000359286.4	+	5	832	c.743G>A	c.(742-744)aGa>aAa	p.R248K		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		AGACATGAGAGAACTCACCTT	0.388000													33	126					0	0	0.002852	0	0
SAMD3	154075	broad.mit.edu	37	6	130476170	130476170	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:130476170C>T	ENST00000368134.2	-	11	1431	c.822_splice	c.e11-1	p.E275_splice	SAMD3_ENST00000457563.2_Splice_Site_p.E299_splice|SAMD3_ENST00000439090.2_Splice_Site_p.E275_splice|SAMD3_ENST00000437477.2_Splice_Site_p.E275_splice	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	275										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACAGCTTCTTCCTGCAAAACA	0.353000													6	40					0	0	0.001168	0	0
ALOX15B	247	broad.mit.edu	37	17	7945753	7945753	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:7945753C>T	ENST00000380183.4	+	4	655	c.516C>T	c.(514-516)ctC>ctT	p.L172L	ALOX15B_ENST00000572022.1_Silent_p.L172L|ALOX15B_ENST00000380173.2_Silent_p.L172L|ALOX15B_ENST00000573359.1_Silent_p.L172L	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	172	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						ACTTGGAGCTCAATATCAAAT	0.547000													8	57					0	0	0.003080	0	0
HCN1	348980	broad.mit.edu	37	5	45396729	45396729	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:45396729G>A	ENST00000303230.4	-	4	1152	c.1095C>T	c.(1093-1095)gcC>gcT	p.A365A		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	365						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			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						TGCTGACTGGGGCTTGGGCTC	0.493000													8	39					0	0	0.003080	0	0
CRHBP	1393	broad.mit.edu	37	5	76259220	76259220	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:76259220G>A	ENST00000274368.4	+	6	1168	c.746G>A	c.(745-747)gGa>gAa	p.G249E	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	249					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		CTGCTGGGAGGAACTGGATTG	0.463000													88	397					0	0	0.003610	0	0
F2	2147	broad.mit.edu	37	11	46747451	46747451	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:46747451G>A	ENST00000311907.5	+	7	658	c.602G>A	c.(601-603)gGc>gAc	p.G201D	F2_ENST00000530231.1_Missense_Mutation_p.G201D	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	201					activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	CGCTCCGAAGGCTCCAGTGTG	0.622000													30	77					0	0	0.001786	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158066807	158066807	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:158066807C>T	ENST00000359775.5	+	6	1680	c.791C>T	c.(790-792)tCc>tTc	p.S264F	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.S264F|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	264						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		TCTGTCTGGTCCATCGTTGGC	0.557000													4	32					0	0	0.000602	0	0
GOLGB1	2804	broad.mit.edu	37	3	121417610	121417610	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:121417610C>T	ENST00000393667.3	-	13	1870	c.1760G>A	c.(1759-1761)gGa>gAa	p.G587E	GOLGB1_ENST00000340645.5_Missense_Mutation_p.G582E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	582					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGCCCTTTTTCCCTGGAGCTG	0.358000													4	34					0	0	0.000248	0	0
GRHL1	29841	broad.mit.edu	37	2	10098918	10098918	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:10098918C>T	ENST00000324907.9	+	3	347	c.211C>T	c.(211-213)Cca>Tca	p.P71S	GRHL1_ENST00000405379.2_Missense_Mutation_p.P71S|GRHL1_ENST00000324883.5_5'UTR	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	71	Transcription activation.				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		ATATCAGGTTCCAAGAGAGAG	0.408000													18	52					0	0	0.001216	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991284	35991284	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:35991284G>A	ENST00000274278.3	-	1	416	c.59C>T	c.(58-60)tCa>tTa	p.S20L	UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.S20L|UGT3A1_ENST00000507113.1_Missense_Mutation_p.S20L|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	20						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCAGCCTCTGAGAGCAGGAC	0.607000													17	90					0	0	0.006122	0	0
PTPN11	5781	broad.mit.edu	37	12	112926862	112926862	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:112926862C>T	ENST00000351677.2	+	13	1680	c.1482C>T	c.(1480-1482)atC>atT	p.I494I		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	498	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CCAAAACCATCCAGATGGTGC	0.453000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				28	110					0	0	0.001512	0	0
SPOCD1	90853	broad.mit.edu	37	1	32263882	32263882	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:32263882C>T	ENST00000360482.2	-	9	2200	c.2071G>A	c.(2071-2073)Gac>Aac	p.D691N	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.D184N|SPOCD1_ENST00000533231.1_Missense_Mutation_p.D691N	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	691	TFIIS central.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CGCACCAGGTCGTAGGGGGTG	0.647000													13	96					0	0	0.004007	0	0
CACNG3	10368	broad.mit.edu	37	16	24358126	24358126	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:24358126G>A	ENST00000005284.3	+	2	1485	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	95					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GGACACAGCCGAATATCTCCT	0.557000													15	27					0	0	0.004007	0	0
KCNH4	23415	broad.mit.edu	37	17	40332925	40332925	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:40332925G>A	ENST00000264661.3	-	1	371	c.39C>T	c.(37-39)acC>acT	p.T13T	KCNH4_ENST00000607371.1_Silent_p.T13T	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	13					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTCCAGGAAGGTGTTTTGCG	0.692000													27	104					0	0	0.001786	0	0
KLRC2	3822	broad.mit.edu	37	12	10588483	10588483	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:10588483C>T	ENST00000381902.2	-	1	109	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	KLRC2_ENST00000381901.1_Missense_Mutation_p.E35K|NKG2-E_ENST00000539033.1_Missense_Mutation_p.E35K|KLRC2_ENST00000536833.2_Intron	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	35					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ATTTCCTGTTCGGTTCCTGAA	0.383000													32	151					0	0	0.002836	0	0
MUC16	94025	broad.mit.edu	37	19	9064689	9064689	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:9064689G>A	ENST00000397910.4	-	3	22960	c.22757C>T	c.(22756-22758)tCc>tTc	p.S7586F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7588	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCTGACATGGATGTTCTGCT	0.488000													19	72					0	0	0.001523	0	0
RERE	473	broad.mit.edu	37	1	8420694	8420694	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:8420694G>A	ENST00000337907.3	-	19	3507	c.2873C>T	c.(2872-2874)tCc>tTc	p.S958F	RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.S404F|RERE_ENST00000400908.2_Missense_Mutation_p.S958F|RERE_ENST00000377464.1_Missense_Mutation_p.S690F	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	958	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGCATTCATGGAGAAGGGTGA	0.682000													8	34					0	0	0.000443	0	0
WDR60	55112	broad.mit.edu	37	7	158715154	158715154	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:158715154C>T	ENST00000407559.3	+	16	2166	c.2008C>T	c.(2008-2010)Ccc>Tcc	p.P670S		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	670										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GAGCTTTGTGCCCCTGCTGGA	0.517000													8	32					0	0	0.004482	0	0
PPARA	5465	broad.mit.edu	37	22	46611088	46611088	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:46611088C>T	ENST00000396000.2	+	4	492	c.227C>T	c.(226-228)tCg>tTg	p.S76L	PPARA_ENST00000407236.1_Missense_Mutation_p.S76L|PPARA_ENST00000434345.2_Missense_Mutation_p.S76L|PPARA_ENST00000262735.5_Missense_Mutation_p.S76L|PPARA_ENST00000402126.1_Missense_Mutation_p.S76L			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	76					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TCACCAGCTTCGAGCCCCTCC	0.547000													6	29					0	0	0.001168	0	0
MUC17	140453	broad.mit.edu	37	7	100694923	100694923	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:100694923C>T	ENST00000306151.4	+	8	12968	c.12904C>T	c.(12904-12906)Caa>Taa	p.Q4302*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4302						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					CACTGGCACCCAAGTGCAAAA	0.537000													9	36					0	0	0.000673	0	0
ESRRB	2103	broad.mit.edu	37	14	76906080	76906080	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:76906080G>A	ENST00000380887.2	+	2	456	c.384G>A	c.(382-384)aaG>aaA	p.K128K	ESRRB_ENST00000509242.1_Silent_p.K128K|ESRRB_ENST00000261532.7_Silent_p.K128K|ESRRB_ENST00000556177.1_Silent_p.K128K|ESRRB_ENST00000507951.1_3'UTR			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	128						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCTTCTTCAAGAGGACTATCC	0.647000													8	18					0	0	0.000443	0	0
SPP1	6696	broad.mit.edu	37	4	88903719	88903719	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:88903719C>T	ENST00000237623.7	+	6	722	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S	SPP1_ENST00000360804.4_Missense_Mutation_p.P179S|SPP1_ENST00000395080.3_Missense_Mutation_p.P206S|SPP1_ENST00000509659.1_3'UTR	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	206					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CAAGGCCATCCCCGTTGCCCA	0.527000													9	72					0	0	0.000978	0	0
HBBP1	3044	broad.mit.edu	37	11	5264439	5264439	+	RNA	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:5264439G>A	ENST00000454892.1	-	0	57					NR_001589.1																						TTTTCCGAAGGAGATCAGCAC	0.493000													10	16					0	0	0.000673	0	0
ERBB4	2066	broad.mit.edu	37	2	212522512	212522512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:212522512C>T	ENST00000342788.4	-	16	2223	c.1913G>A	c.(1912-1914)tGg>tAg	p.W638*	ERBB4_ENST00000402597.1_Intron|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.W638*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	638					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.W638L(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATGGCCCGTCCATGGGTAGTA	0.428000										TSP Lung(8;0.080)			14	73					0	0	0.003163	0	0
IGHV3-73	28409	broad.mit.edu	37	14	107211365	107211365	+	RNA	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:107211365G>A	ENST00000390636.2	-	0	106																											TAGCAACAAGGAAAACCCAGC	0.507000													43	150					0	0	0.003610	0	0
ACSL6	23305	broad.mit.edu	37	5	131290046	131290046	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:131290046G>A	ENST00000379264.2	-	21	2158	c.2050C>T	c.(2050-2052)Cat>Tat	p.H684Y	ACSL6_ENST00000379244.1_Missense_Mutation_p.H659Y|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000431707.1_Missense_Mutation_p.H639Y|ACSL6_ENST00000379272.2_Missense_Mutation_p.H674Y|ACSL6_ENST00000379240.1_Missense_Mutation_p.H659Y|ACSL6_ENST00000544770.1_Missense_Mutation_p.H568Y|ACSL6_ENST00000357096.1_Missense_Mutation_p.H584Y|ACSL6_ENST00000379255.1_Missense_Mutation_p.H584Y|ACSL6_ENST00000379249.3_Intron|ACSL6_ENST00000543479.1_Missense_Mutation_p.H659Y|ACSL6_ENST00000379246.1_Missense_Mutation_p.H670Y|ACSL6_ENST00000296869.4_Missense_Mutation_p.H684Y	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	659					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGTCAGAATGGATGTGAATG	0.363000													8	23					0	0	0.000673	0	0
SUPT5H	6829	broad.mit.edu	37	19	39948936	39948936	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:39948936G>A	ENST00000599117.1	+	6	677	c.310G>A	c.(310-312)Gag>Aag	p.E104K	SUPT5H_ENST00000402194.2_Intron|SUPT5H_ENST00000598725.1_Missense_Mutation_p.E104K|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E104K|SUPT5H_ENST00000359191.6_Intron			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	104	Glu-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCAAGTAGAAGAGATTGAAGG	0.532000													35	120					0	0	0.004289	0	0
CCL20	6364	broad.mit.edu	37	2	228681022	228681022	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:228681022G>A	ENST00000409189.3	+	3	258		c.e3-1		CCL20_ENST00000358813.4_Splice_Site|CCL20_ENST00000473642.1_Splice_Site	NM_001130046.1|NM_004591.2	NP_001123518.1|NP_004582.1	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20						cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		TGATTTTTCAGCTTTCACACA	0.333000													7	29					0	0	0.000443	0	0
TMEM67	91147	broad.mit.edu	37	8	94809639	94809639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:94809639C>T	ENST00000453321.3	+	20	2099	c.2041C>T	c.(2041-2043)Cag>Tag	p.Q681*	TMEM67_ENST00000409623.3_Nonsense_Mutation_p.Q600*	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	681					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GAATGAAATTCAGACTGTGAG	0.363000													12	83					0	0	0.000978	0	0
CAPSL	133690	broad.mit.edu	37	5	35910583	35910583	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:35910583C>T	ENST00000397367.2	-	3	326	c.200G>A	c.(199-201)gGg>gAg	p.G67E	CAPSL_ENST00000397366.1_Missense_Mutation_p.G67E|CAPSL_ENST00000514524.1_Missense_Mutation_p.G67E	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	67	EF-hand 1.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			ATCATTTAACCCTTTCATAAA	0.318000													11	51					0	0	0.000673	0	0
KDM7A	80853	broad.mit.edu	37	7	139827337	139827337	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:139827337G>T	ENST00000397560.2	-	5	703	c.606C>A	c.(604-606)gaC>gaA	p.D202E	JHDM1D_ENST00000006967.5_Missense_Mutation_p.D202E	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		202					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TCATTTTGCTGTCTGCCTGCC	0.368000													27	108					1.55811e-20	3.34049e-20	0.001512	1	0
CCDC63	160762	broad.mit.edu	37	12	111291224	111291224	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:111291224A>G	ENST00000308208.5	+	3	267	c.25A>G	c.(25-27)Aga>Gga	p.R9G	CCDC63_ENST00000545036.1_5'UTR|CCDC63_ENST00000552694.1_Intron|CCDC63_ENST00000550317.1_Intron	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	9										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GAAGAACAGGAGAAAAGACTC	0.577000													8	31					0	0	0.000673	0	0
CCDC68	80323	broad.mit.edu	37	18	52596077	52596077	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr18:52596077C>T	ENST00000591504.1	-	8	911	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	CCDC68_ENST00000432185.1_Missense_Mutation_p.E213K|CCDC68_ENST00000337363.4_Missense_Mutation_p.E213K	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	213										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AGCTTGTTTTCCAAAGACAGT	0.378000													5	18					0	0	0.000602	0	0
XIRP2	129446	broad.mit.edu	37	2	168101234	168101234	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:168101234C>T	ENST00000409195.1	+	9	3421	c.3332C>T	c.(3331-3333)tCg>tTg	p.S1111L	XIRP2_ENST00000295237.9_Missense_Mutation_p.S1111L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S889L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	936					actin cytoskeleton organization	cell junction	actin binding			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						GAAAAAGTTTCGTTAATGACC	0.368000													5	14					0	0	0.001984	0	0
NLRP12	91662	broad.mit.edu	37	19	54307240	54307240	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:54307240G>A	ENST00000324134.6	-	6	2719	c.2551C>T	c.(2551-2553)Ctg>Ttg	p.L851L	NLRP12_ENST00000535162.1_Silent_p.L851L|NLRP12_ENST00000351894.4_Silent_p.L851L|NLRP12_ENST00000391772.1_Silent_p.L852L|NLRP12_ENST00000345770.5_Silent_p.L852L|NLRP12_ENST00000391775.3_Silent_p.L851L|NLRP12_ENST00000391773.1_Silent_p.L852L|NLRP12_ENST00000354278.3_Silent_p.L851L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	851					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGGTGCCTCAGTCCCTGGCAT	0.483000													7	42					0	0	0.004482	0	0
MSR1	4481	broad.mit.edu	37	8	16026296	16026296	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:16026296C>T	ENST00000350896.3	-	4	498	c.301G>A	c.(301-303)Gga>Aga	p.G101R	MSR1_ENST00000381998.4_Missense_Mutation_p.G101R|MSR1_ENST00000445506.2_Missense_Mutation_p.G119R|MSR1_ENST00000262101.5_Missense_Mutation_p.G101R|MSR1_ENST00000355282.2_Missense_Mutation_p.G101R|MSR1_ENST00000536385.1_Intron	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	101	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.G101R(2)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTGTCATTTCCTTTTCCCGTG	0.373000													21	82					0	0	0.001523	0	0
PIK3R5	23533	broad.mit.edu	37	17	8808203	8808203	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:8808203G>A	ENST00000447110.1	-	5	427	c.303C>T	c.(301-303)ctC>ctT	p.L101L	PIK3R5_ENST00000581552.1_Silent_p.L101L|PIK3R5_ENST00000584803.1_Silent_p.L101L	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	101	Heterodimerization (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CCTTCAGAAGGAGATCCGAGT	0.537000													10	52					0	0	0.000673	0	0
PSEN2	5664	broad.mit.edu	37	1	227069743	227069743	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:227069743C>T	ENST00000366782.1	+	4	734	c.234C>T	c.(232-234)gcC>gcT	p.A78A	PSEN2_ENST00000340188.4_Silent_p.A45A|PSEN2_ENST00000366783.3_Silent_p.A45A|PSEN2_ENST00000422240.2_Silent_p.A45A|PSEN2_ENST00000391872.2_Silent_p.A78A			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	45					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				AGAACACTGCCCAGTGGGTAG	0.607000													22	29					0	0	0.003330	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767485	143767485	+	Silent	SNP	A	A	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:143767485A>G	ENST00000419275.1	-	1	396	c.364T>C	c.(364-366)Ttg>Ctg	p.L122L		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	122	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						TTGCCATCCAACCACTCAGTC	0.483000													53	421					0	0	0.003610	0	0
ADCY4	196883	broad.mit.edu	37	14	24800431	24800431	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:24800431C>T	ENST00000396747.3	-	5	895	c.8G>A	c.(7-9)aGa>aAa	p.R3K	ADCY4_ENST00000418030.2_Silent_p.K267K|ADCY4_ENST00000554068.2_Silent_p.K267K|ADCY4_ENST00000310677.4_Silent_p.K267K			Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	0					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|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCTGGTGCCTCTTGACATAGA	0.602000													19	59					0	0	0.001216	0	0
FAM91A1	157769	broad.mit.edu	37	8	124797968	124797968	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:124797968G>A	ENST00000334705.7	+	11	1195	c.949G>A	c.(949-951)Gta>Ata	p.V317I	FAM91A1_ENST00000521166.1_Missense_Mutation_p.V317I	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	317										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TGTTCCATCCGTAAACAGATT	0.289000													18	97					0	0	0.000958	0	0
POF1B	79983	broad.mit.edu	37	X	84622723	84622723	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrX:84622723G>A	ENST00000262753.4	-	3	476	c.331C>T	c.(331-333)Cta>Tta	p.L111L	POF1B_ENST00000373145.3_Silent_p.L111L	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	111							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GTTATATGTAGAGTACTTGGG	0.318000													8	22					0	0	0.000673	0	0
FCRL1	115350	broad.mit.edu	37	1	157767989	157767989	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:157767989G>A	ENST00000358292.3	-	7	1010	c.959C>T	c.(958-960)tCa>tTa	p.S320L	FCRL1_ENST00000368176.3_Missense_Mutation_p.S359L|FCRL1_ENST00000491942.1_Missense_Mutation_p.S359L|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	359						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGGGGTAGGTGAGTTGAGGTA	0.507000													10	61					0	0	0.000978	0	0
SPRED2	200734	broad.mit.edu	37	2	65540935	65540935	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:65540935C>T	ENST00000356388.4	-	6	1146	c.957G>A	c.(955-957)gaG>gaA	p.E319E	SPRED2_ENST00000443619.2_Silent_p.E316E	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	319	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GGCGGTTCTCCTCGTGGTTGA	0.667000													27	99					0	0	0.002096	0	0
APCDD1	147495	broad.mit.edu	37	18	10471953	10471953	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr18:10471953C>T	ENST00000355285.4	+	3	1023	c.669C>T	c.(667-669)ctC>ctT	p.L223L	APCDD1_ENST00000584596.1_3'UTR|APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	223					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		ACCACAACCTCGACCACCTGG	0.572000													15	100					0	0	0.003163	0	0
VPS13A	23230	broad.mit.edu	37	9	79922920	79922920	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:79922920G>T	ENST00000360280.3	+	35	4280	c.4020G>T	c.(4018-4020)tgG>tgT	p.W1340C	VPS13A_ENST00000376634.4_Missense_Mutation_p.W1340C|VPS13A_ENST00000376636.3_Missense_Mutation_p.W1301C|VPS13A_ENST00000357409.5_Missense_Mutation_p.W1340C|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1340					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCAATATATGGTATGAAAAAG	0.343000													14	36					9.05144e-12	1.93691e-11	0.001855	1	0
HSP90AB1	3326	broad.mit.edu	37	6	44217789	44217789	+	Silent	SNP	C	C	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:44217789C>A	ENST00000371554.1	+	5	760	c.546C>A	c.(544-546)atC>atA	p.I182I	HSP90AB1_ENST00000353801.3_Silent_p.I182I|HSP90AB1_ENST00000371646.5_Silent_p.I182I			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	182					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCAAAGTGATCCTCCATCTTA	0.438000													16	75					0.00400662	0.00838355	0.004007	1	0
TG	7038	broad.mit.edu	37	8	133885333	133885333	+	Missense_Mutation	SNP	C	C	T	rs143578780		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:133885333C>T	ENST00000220616.4	+	5	545	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	TG_ENST00000377869.1_Missense_Mutation_p.R169C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	169	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AATAAGAAATCGTCGTCTTCT	0.443000													27	25					0	0	0.001512	0	0
TTLL9	164395	broad.mit.edu	37	20	30530770	30530770	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr20:30530770A>G	ENST00000375922.4	+	11	1073	c.967A>G	c.(967-969)Aca>Gca	p.T323A	TTLL9_ENST00000375921.2_3'UTR|TTLL9_ENST00000375938.4_Silent_p.K422K|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000535842.1_Silent_p.K422K			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	0	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATCGGAAGAAACAACTGAGGC	0.572000													38	126					0	0	0.001287	0	0
ZBED2	79413	broad.mit.edu	37	3	111312682	111312682	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:111312682C>T	ENST00000317012.4	-	2	1375	c.367G>A	c.(367-369)Gat>Aat	p.D123N	CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000438817.2_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	123							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						GGCCTTGGATCCTGGCGCTGC	0.627000													10	32					0	0	0.000978	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993302	140993302	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrX:140993302C>T	ENST00000285879.4	+	4	398	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	38							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGATTCCCCAGAGTTC	0.582000										HNSCC(15;0.026)			22	93					0	0	0.002780	0	0
SPACA1	81833	broad.mit.edu	37	6	88773912	88773912	+	Silent	SNP	T	T	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:88773912T>C	ENST00000237201.1	+	6	823	c.706T>C	c.(706-708)Tta>Cta	p.L236L	SPACA1_ENST00000462690.1_Intron	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	236						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TATAATTTTCTTATTGATCTT	0.393000													16	40					0	0	0.004007	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19715897	19715897	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr21:19715897A>C	ENST00000284885.3	-	12	1387	c.1354T>G	c.(1354-1356)Ttc>Gtc	p.F452V		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	452	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCCTTTTGGAAAACTGTCTTC	0.289000													14	58					0	0	0.002450	0	0
CSN2	1447	broad.mit.edu	37	4	70823381	70823381	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:70823381G>A	ENST00000353151.3	-	5	297	c.286C>T	c.(286-288)Cct>Tct	p.P96S		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	96					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						ATTATTTCAGGCTGAGGGACA	0.473000													8	26					0	0	0.004482	0	0
TTLL13	440307	broad.mit.edu	37	15	90799000	90799000	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:90799000T>A	ENST00000438251.1	+	5	721	c.431T>A	c.(430-432)tTc>tAc	p.F144Y	RP11-697E2.6_ENST00000561573.1_Intron|TTLL13_ENST00000339615.5_Missense_Mutation_p.F144Y			A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	144	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			ATCAACCACTTCCCTGGCATG	0.522000													39	143					0	0	0.005524	0	0
AGR3	155465	broad.mit.edu	37	7	16918164	16918164	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:16918164C>T	ENST00000310398.2	-	2	149	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	AGR3_ENST00000402239.3_Missense_Mutation_p.E27K	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	27						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GGCCTCTTTTCCTTTTTTATT	0.403000													19	54					0	0	0.000958	0	0
FAM222B	55731	broad.mit.edu	37	17	27086635	27086635	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:27086635C>T	ENST00000341217.5	-	3	557	c.342G>A	c.(340-342)aaG>aaA	p.K114K	FAM222B_ENST00000452648.3_Silent_p.K114K|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000581407.1_Silent_p.K114K|FAM222B_ENST00000581381.1_3'UTR|FAM222B_ENST00000577682.1_3'UTR|FAM222B_ENST00000582059.1_3'UTR|FAM222B_ENST00000583953.1_3'UTR|FAM222B_ENST00000583522.1_3'UTR	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN	family with sequence similarity 222, member B	114																	CGTCAAAGTCCTTGAGTATGC	0.612000													6	12					0	0	0.001984	0	0
PLG	5340	broad.mit.edu	37	6	161173248	161173248	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:161173248G>A	ENST00000308192.9	+	18	2290	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	743	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCAATCCACCGAACTCTGTGC	0.488000													15	43					0	0	0.004007	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846025	18846025	+	RNA	SNP	G	G	C	rs5993363		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647000													4	51					0	0	0.001168	0	0
AGAP11	119385	broad.mit.edu	37	10	88752110	88752110	+	RNA	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:88752110G>A	ENST00000433214.2	+	0	471																											AAGCTGAAAAGAAAAAGAAGC	0.423000													4	12					0	0	0.000248	0	0
PIGR	5284	broad.mit.edu	37	1	207110450	207110450	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:207110450G>A	ENST00000356495.4	-	4	1218	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	345	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCTCATTGACGAAGAGTTGCC	0.582000													9	23					0	0	0.000443	0	0
HLCS	3141	broad.mit.edu	37	21	38137355	38137355	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr21:38137355G>A	ENST00000399120.1	-	9	2868	c.1638C>T	c.(1636-1638)tcC>tcT	p.S546S	HLCS_ENST00000336648.3_Silent_p.S546S	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	546					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CGACAGCCACGGACATCAGAT	0.532000													10	79					0	0	0.000443	0	0
FLG	2312	broad.mit.edu	37	1	152275409	152275409	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:152275409C>T	ENST00000368799.1	-	3	11988	c.11953G>A	c.(11953-11955)Gat>Aat	p.D3985N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3985					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.D3985H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCATAATCATAATCTGCA	0.398000									Ichthyosis				31	88					0	0	0.002096	0	0
DNAH5	1767	broad.mit.edu	37	5	13824350	13824350	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:13824350C>T	ENST00000265104.4	-	39	6641	c.6537G>A	c.(6535-6537)acG>acA	p.T2179T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2179					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATGACAATCGTGGACTCCG	0.448000									Kartagener syndrome				9	30					0	0	0.004482	0	0
ZFPL1	7542	broad.mit.edu	37	11	64853932	64853932	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:64853932C>T	ENST00000294258.3	+	4	412	c.260C>T	c.(259-261)cCc>cTc	p.P87L		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	87					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						GCCCAGCTACCCCGAAACACG	0.607000													42	187					0	0	0.003214	0	0
LGSN	51557	broad.mit.edu	37	6	63995556	63995556	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:63995556C>T	ENST00000370658.5	-	3	299	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	LGSN_ENST00000370657.4_Missense_Mutation_p.R89Q	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	89					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TGCTTCAAATCGTACAAACTG	0.433000													10	20					0	0	0.000978	0	0
ASPH	444	broad.mit.edu	37	8	62566152	62566152	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:62566152G>A	ENST00000541428.1	-	4	463	c.303C>T	c.(301-303)ccC>ccT	p.P101P	ASPH_ENST00000445642.3_Silent_p.P116P|ASPH_ENST00000522835.1_Silent_p.P116P|ASPH_ENST00000518068.1_Silent_p.P130P|ASPH_ENST00000379454.4_Silent_p.P130P|ASPH_ENST00000517903.1_Silent_p.P116P|ASPH_ENST00000356457.5_Silent_p.P130P|ASPH_ENST00000517847.2_Silent_p.P116P	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	130					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CCTGCTCCTCGGGCTCAGTGT	0.517000													25	32					0	0	0.001786	0	0
DHX33	56919	broad.mit.edu	37	17	5347750	5347750	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:5347750G>A	ENST00000225296.3	-	12	2099	c.1899C>T	c.(1897-1899)gcC>gcT	p.A633A	DHX33_ENST00000433302.3_Silent_p.A409A	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	633						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCTGAAGCTCGGCGGTGCTCA	0.622000													8	30					0	0	0.003080	0	0
MSR1	4481	broad.mit.edu	37	8	16026295	16026295	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:16026295C>T	ENST00000350896.3	-	4	499	c.302G>A	c.(301-303)gGa>gAa	p.G101E	MSR1_ENST00000381998.4_Missense_Mutation_p.G101E|MSR1_ENST00000445506.2_Missense_Mutation_p.G119E|MSR1_ENST00000262101.5_Missense_Mutation_p.G101E|MSR1_ENST00000355282.2_Missense_Mutation_p.G101E|MSR1_ENST00000536385.1_Intron	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	101	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GCTGTCATTTCCTTTTCCCGT	0.378000													23	81					0	0	0.002299	0	0
CD79A	973	broad.mit.edu	37	19	42381431	42381431	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:42381431C>T	ENST00000221972.3	+	1	242	c.57C>T	c.(55-57)ttC>ttT	p.F19F	CD79A_ENST00000444740.2_Silent_p.F19F	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	19					B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						TCCTCCTCTTCCTGCTGTCTG	0.607000			"""O, S"""		DLBCL								14	50					0	0	0.002450	0	0
CHRM3	1131	broad.mit.edu	37	1	240071148	240071148	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:240071148C>T	ENST00000255380.4	+	5	1176	c.397C>T	c.(397-399)Cga>Tga	p.R133*		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	133					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CATCATGAATCGATGGGCCTT	0.478000													10	81					0	0	0.000673	0	0
KCNH4	23415	broad.mit.edu	37	17	40332926	40332926	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:40332926G>A	ENST00000264661.3	-	1	370	c.38C>T	c.(37-39)aCc>aTc	p.T13I	KCNH4_ENST00000607371.1_Missense_Mutation_p.T13I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	13					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTCCAGGAAGGTGTTTTGCGG	0.692000													27	103					0	0	0.001271	0	0
ZNF317	57693	broad.mit.edu	37	19	9270856	9270856	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:9270856C>T	ENST00000247956.6	+	7	840	c.535C>T	c.(535-537)Cct>Tct	p.P179S	ZNF317_ENST00000360385.3_Missense_Mutation_p.P147S	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TGGCATGGACCCTCATCTCAC	0.552000													14	40					0	0	0.003163	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531209	140531209	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:140531209C>T	ENST00000231136.1	+	1	1371	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	PCDHB6_ENST00000543635.1_Silent_p.F321F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		457	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.F457F(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.612000													39	135					0	0	0.003214	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46101789	46101789	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr21:46101789G>A	ENST00000391617.1	-	1	289	c.250C>T	c.(250-252)Ctc>Ttc	p.L84F	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	84	14 X 5 AA approximate repeats.					keratin filament				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						GGTCTGCAGAGGACGCTGGTG	0.642000													10	48					0	0	0.000443	0	0
GRIN2B	2904	broad.mit.edu	37	12	13761657	13761657	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:13761657G>A	ENST00000279593.3	-	9	2099	c.1890C>T	c.(1888-1890)atC>atT	p.I630I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	630					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGACACCATGATCTTGGAGG	0.512000													11	56					0	0	0.000978	0	0
RGL1	23179	broad.mit.edu	37	1	183711344	183711344	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:183711344C>T	ENST00000304685.3	+	2	513	c.52C>T	c.(52-54)Ctt>Ttt	p.L18F	RGL1_ENST00000536277.1_Missense_Mutation_p.L18F|RGL1_ENST00000367531.1_Missense_Mutation_p.L18F	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	0					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TAAATTCAAACTTTCCACCAA	0.448000													17	41					0	0	0.006122	0	0
EVI5L	115704	broad.mit.edu	37	19	7914195	7914195	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:7914195C>T	ENST00000270530.4	+	5	802	c.606C>T	c.(604-606)atC>atT	p.I202I	EVI5L_ENST00000538904.2_Silent_p.I202I	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	202	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GCGCCTTCATCGTGGGCCTGC	0.647000													18	38					0	0	0.001216	0	0
MICALL2	79778	broad.mit.edu	37	7	1484391	1484391	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:1484391G>A	ENST00000297508.7	-	6	1490	c.1315C>T	c.(1315-1317)Ccg>Tcg	p.P439S	MICALL2_ENST00000405088.4_Missense_Mutation_p.P227S	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	439						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		ACAAGTGACGGGGTGGGACCT	0.642000													3	22					0	0	0.000248	0	0
KAT6B	23522	broad.mit.edu	37	10	76739023	76739023	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:76739023C>T	ENST00000287239.4	+	10	2646	c.2157C>T	c.(2155-2157)taC>taT	p.Y719Y	KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372714.1_Silent_p.Y427Y|KAT6B_ENST00000372724.1_Silent_p.Y427Y|KAT6B_ENST00000372725.1_Silent_p.Y427Y|KAT6B_ENST00000372711.1_Silent_p.Y536Y	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	719	Catalytic.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GTGGCCGGTACCCTTCTGTGA	0.388000													6	35					0	0	0.001984	0	0
RLTPR	146206	broad.mit.edu	37	16	67688253	67688253	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:67688253C>T	ENST00000334583.6	+	31	3568	c.3240C>T	c.(3238-3240)gaC>gaT	p.D1080D	RLTPR_ENST00000545661.1_Silent_p.D1044D	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1080										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCGAGGAGGACCCGGCCACTG	0.662000													4	14					0	0	0.000602	0	0
HDHD2	84064	broad.mit.edu	37	18	44656643	44656643	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr18:44656643G>A	ENST00000300605.6	-	4	519	c.367C>T	c.(367-369)Cat>Tat	p.H123Y	HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	123							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						ATTTGATAATGAAAATGTTCT	0.343000													28	59					0	0	0.002096	0	0
NCR2	9436	broad.mit.edu	37	6	41318505	41318505	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:41318505C>T	ENST00000373089.5	+	5	822	c.734C>T	c.(733-735)cCc>cTc	p.P245L	NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	245					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					acggaccttccctggacctca	0.468000													10	44					0	0	0.000673	0	0
DNAH5	1767	broad.mit.edu	37	5	13700912	13700912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:13700912C>T	ENST00000265104.4	-	78	13664	c.13560G>A	c.(13558-13560)tgG>tgA	p.W4520*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4520					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGTCCTTCATCCATTTGGTGA	0.483000									Kartagener syndrome				24	84					0	0	0.005443	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834259	125834259	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:125834259C>T	ENST00000299308.3	+	2	322	c.314C>T	c.(313-315)tCt>tTt	p.S105F	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	105						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTGTTGACATCTACAGCCTTT	0.478000													35	103					0	0	0.003755	0	0
VPS13D	55187	broad.mit.edu	37	1	12416533	12416533	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:12416533G>A	ENST00000358136.3	+	49	10080	c.9950G>A	c.(9949-9951)aGc>aAc	p.S3317N	VPS13D_ENST00000356315.4_Missense_Mutation_p.S3292N	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3316					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTGGCCCGTAGCCTGAGTCCT	0.493000													11	43					0	0	0.001855	0	0
STC1	6781	broad.mit.edu	37	8	23708887	23708887	+	Missense_Mutation	SNP	C	C	T	rs150986463		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:23708887C>T	ENST00000290271.2	-	3	702	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	STC1_ENST00000524323.1_Missense_Mutation_p.R71Q	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	140					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TTCAGGGTTCCGCTTGGCGAT	0.532000													20	108					0	0	0.001882	0	0
MATN1	4146	broad.mit.edu	37	1	31188783	31188783	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:31188783C>T	ENST00000373765.4	-	5	1215	c.1180G>A	c.(1180-1182)Gat>Aat	p.D394N		NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	394	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGCAGCATCATTAATGTAG	0.572000													8	41					0	0	0.003080	0	0
LYPD4	147719	broad.mit.edu	37	19	42342326	42342326	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:42342326C>T	ENST00000330743.3	-	4	1432	c.221G>A	c.(220-222)aGg>aAg	p.R74K	LYPD4_ENST00000343055.4_Missense_Mutation_p.R39K|LYPD4_ENST00000601246.1_Missense_Mutation_p.R39K	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	74						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CACAACTCCCCTTGCAGTCCC	0.577000													8	24					0	0	0.000443	0	0
GPR156	165829	broad.mit.edu	37	3	119886817	119886817	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:119886817C>T	ENST00000464295.1	-	10	1952	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	GPR156_ENST00000315843.3_Missense_Mutation_p.D503N|GPR156_ENST00000461057.1_Missense_Mutation_p.D499N			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	503						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGGACTTGGTCTCCTCTTTCT	0.527000													44	124					0	0	0.003610	0	0
RBMXL1	494115	broad.mit.edu	37	1	89449031	89449031	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:89449031G>A	ENST00000399794.2	-	3	1194	c.479C>T	c.(478-480)cCt>cTt	p.P160L	CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.P160L	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	160							nucleotide binding|RNA binding										CTTAGGAGAAGGACCCCCACT	0.493000													35	109					0	0	0.004289	0	0
FAS	355	broad.mit.edu	37	10	90767523	90767523	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:90767523G>A	ENST00000355740.2	+	3	483	c.263G>A	c.(262-264)gGg>gAg	p.G88E	FAS_ENST00000357339.2_Missense_Mutation_p.G88E|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000355279.2_Missense_Mutation_p.G88E|FAS_ENST00000352159.4_Missense_Mutation_p.G88E	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	88					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TGCCAAGAAGGGAAGGAGTAC	0.448000													7	21					0	0	0.004482	0	0
BRCA2	675	broad.mit.edu	37	13	32914693	32914693	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr13:32914693C>T	ENST00000544455.1	+	11	6428	c.6201C>T	c.(6199-6201)tcC>tcT	p.S2067S	BRCA2_ENST00000380152.3_Silent_p.S2067S	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2067					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGCAAGTTTCCATTTTAGAAA	0.348000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			14	29					0	0	0.001855	0	0
HUWE1	10075	broad.mit.edu	37	X	53617393	53617393	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrX:53617393G>A	ENST00000342160.3	-	34	4619	c.4162C>T	c.(4162-4164)Cca>Tca	p.P1388S	HUWE1_ENST00000262854.6_Missense_Mutation_p.P1388S|HUWE1_ENST00000218328.8_Missense_Mutation_p.P1388S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1388					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGATCCATTGGAATATCCTGT	0.433000													30	72					0	0	0.002836	0	0
MYC	4609	broad.mit.edu	37	8	128752989	128752989	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:128752989G>A	ENST00000377970.2	+	3	1660	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	MYC_ENST00000524013.1_Missense_Mutation_p.E383K	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	369	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GAGGAGGAACGAGCTAAAACG	0.517000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""								134	125					0	0	0.003610	0	0
ERVW-1	30816	broad.mit.edu	37	7	92098746	92098746	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:92098746C>T	ENST00000493463.2	-	1	1873	c.950G>A	c.(949-951)aGa>aAa	p.R317K	AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Missense_Mutation_p.R317K|ERVW-1_ENST00000604270.1_Intron	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		317		Cleavage.			syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						aatgggtactcttttgttgcg	0.428000													18	81					0	0	0.001216	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24884069	24884069	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:24884069G>A	ENST00000396432.2	-	20	4249	c.3763C>T	c.(3763-3765)Cgt>Tgt	p.R1255C	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R1042C	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1254	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTTTTCAGACGATCTAGAGGA	0.303000													8	26					0	0	0.004482	0	0
NVL	4931	broad.mit.edu	37	1	224477257	224477257	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:224477257C>A	ENST00000281701.6	-	13	1763	c.1504G>T	c.(1504-1506)Gaa>Taa	p.E502*	NVL_ENST00000482491.1_Nonsense_Mutation_p.E226*|NVL_ENST00000340871.4_Nonsense_Mutation_p.E313*|NVL_ENST00000391875.2_Nonsense_Mutation_p.E396*|NVL_ENST00000361463.3_Nonsense_Mutation_p.E396*|NVL_ENST00000469075.1_Nonsense_Mutation_p.E411*	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	502						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TCTTCCATTTCAGGATTTTTC	0.458000													19	54					1.67942e-08	3.56679e-08	0.006122	1	0
FMN2	56776	broad.mit.edu	37	1	240371059	240371059	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:240371059G>A	ENST00000319653.9	+	5	3177	c.2947G>A	c.(2947-2949)Gga>Aga	p.G983R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	983	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTCTACCCGGAGCGGGCAT	0.716000													6	40					0	0	0.004482	0	0
CENPU	79682	broad.mit.edu	37	4	185646136	185646136	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:185646136G>C	ENST00000281453.5	-	4	365	c.295C>G	c.(295-297)Cct>Gct	p.P99A	MLF1IP_ENST00000541971.1_Missense_Mutation_p.P99A	NM_024629.3	NP_078905.2	Q71F23	CENPU_HUMAN		99					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm		p.P99S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		TTTCCTGGAGGAGTTGAAGAG	0.353000													11	42					0	0	0.000978	0	0
KIAA1257	57501	broad.mit.edu	37	3	128706457	128706457	+	Splice_Site	SNP	A	A	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:128706457A>C	ENST00000265068.5	-	4	835		c.e4+1		KIAA1257_ENST00000511438.1_Splice_Site|KIAA1257_ENST00000510149.1_Splice_Site|KIAA1257_ENST00000515659.1_Splice_Site	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257											breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AAACCAGAGCACCTGACTTAT	0.443000													13	65					0	0	0.002450	0	0
OGDHL	55753	broad.mit.edu	37	10	50944543	50944543	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:50944543G>A	ENST00000374103.4	-	21	2699	c.2614C>T	c.(2614-2616)Cct>Tct	p.P872S	OGDHL_ENST00000432695.1_Missense_Mutation_p.P663S|OGDHL_ENST00000419399.1_Missense_Mutation_p.P815S|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	872					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCATCTTCAGGAATCACCCGC	0.642000													12	57					0	0	0.001368	0	0
CNBD1	168975	broad.mit.edu	37	8	88249305	88249305	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:88249305C>T	ENST00000518476.1	+	6	787	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	246										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AAACTCTACACTTGCTGAGAT	0.373000													11	72					0	0	0.001368	0	0
KIF21B	23046	broad.mit.edu	37	1	200978068	200978068	+	Silent	SNP	C	C	T	rs150839616		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:200978068C>T	ENST00000332129.2	-	3	592	c.276G>A	c.(274-276)ggG>ggA	p.G92G	KIF21B_ENST00000422435.2_Silent_p.G92G|KIF21B_ENST00000461742.2_Silent_p.G92G|KIF21B_ENST00000360529.5_Silent_p.G92G	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	92	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G92G(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGTACGTCTTCCCGGCCCCCG	0.612000													25	59					0	0	0.004656	0	0
RUSC2	9853	broad.mit.edu	37	9	35561359	35561359	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:35561359C>T	ENST00000455600.1	+	12	5100	c.4531C>T	c.(4531-4533)Cct>Tct	p.P1511S		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1511						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AAGTCCAACCCCTGGAAGCAG	0.652000													11	66					0	0	0.000673	0	0
GOT2	2806	broad.mit.edu	37	16	58753135	58753135	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:58753135C>A	ENST00000245206.5	-	4	528	c.400G>T	c.(400-402)Gga>Tga	p.G134*	GOT2_ENST00000434819.2_Nonsense_Mutation_p.G91*|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	134					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCTCCAGTTCCAGAAATGGTC	0.493000													13	69					4.7546e-09	1.01169e-08	0.004007	1	0
RB1	5925	broad.mit.edu	37	13	49027168	49027168	+	Nonsense_Mutation	SNP	C	C	T	rs121913305		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr13:49027168C>T	ENST00000267163.4	+	18	1873	c.1735C>T	c.(1735-1737)Cga>Tga	p.R579*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	579	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)|p.R579*(5)|p.R579fs*29(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATCAAAGGACCGAGAAGGACC	0.338000	R579*(SW1783_CENTRAL_NERVOUS_SYSTEM)	6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			6	20					0	0	0.001984	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29966482	29966482	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:29966482G>A	ENST00000216121.7	-	2	392	c.138C>T	c.(136-138)tcC>tcT	p.S46S		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	46								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						GAACAAAGAGGGAGCGGAACC	0.562000													6	12					0	0	0.001984	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63842813	63842813	+	Missense_Mutation	SNP	C	C	G	rs146316789		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:63842813C>G	ENST00000337537.3	-	14	1920	c.1318G>C	c.(1318-1320)Gaa>Caa	p.E440Q	PPP2R5E_ENST00000422769.2_Missense_Mutation_p.E364Q|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.E435Q	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	440					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CGCTCCTTTTCTTTCTTTTTC	0.333000													18	39					0	0	0.001216	0	0
DNAJC16	23341	broad.mit.edu	37	1	15870913	15870913	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:15870913C>T	ENST00000375847.3	+	5	758	c.594C>T	c.(592-594)gtC>gtT	p.V198V	DNAJC16_ENST00000375838.1_Silent_p.V198V|DNAJC16_ENST00000375849.1_Silent_p.V198V	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	198	Thioredoxin.				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTGGCGTGGTCCATGCTGGGT	0.468000													10	31					0	0	0.000673	0	0
PLD1	5337	broad.mit.edu	37	3	171321003	171321003	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:171321003G>A	ENST00000356327.5	-	26	3046	c.2976C>T	c.(2974-2976)ccC>ccT	p.P992P	PLD1_ENST00000351298.4_Silent_p.P1030P|PLD1_ENST00000342215.6_3'UTR	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	1030					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CAGCTCGAATGGGATCTTCCT	0.433000													11	37					0	0	0.000978	0	0
DNAH10	196385	broad.mit.edu	37	12	124289424	124289424	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:124289424G>A	ENST00000409039.3	+	17	2495	c.2470G>A	c.(2470-2472)Gac>Aac	p.D824N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	824	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGGGCCAGCGACGTGGACCA	0.547000													30	121					0	0	0.002445	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093854	143093854	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:143093854G>A	ENST00000367603.2	-	5	2764	c.2022C>T	c.(2020-2022)ttC>ttT	p.F674F	HIVEP2_ENST00000012134.2_Silent_p.F674F|HIVEP2_ENST00000367604.1_Silent_p.F674F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CGGGATCCATGAAATATTCTC	0.473000													23	82					0	0	0.001882	0	0
KPNA6	23633	broad.mit.edu	37	1	32620255	32620255	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:32620255C>T	ENST00000373625.3	+	2	164	c.71C>T	c.(70-72)cCt>cTt	p.P24L	KPNA6_ENST00000537234.1_Missense_Mutation_p.P21L|KPNA6_ENST00000545542.1_Missense_Mutation_p.P29L|KPNA6_ENST00000469790.1_3'UTR	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	24	IBB.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCTCTAAACCCTGAAGAAATG	0.428000													9	36					0	0	0.004482	0	0
ASPHD1	253982	broad.mit.edu	37	16	29913155	29913155	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:29913155G>A	ENST00000308748.5	+	1	1115	c.863G>A	c.(862-864)gGc>gAc	p.G288D	ASPHD1_ENST00000483405.1_Missense_Mutation_p.G7D	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	288					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	p.G288D(1)		endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						AACACCTTCGGCAATGCCGGC	0.662000													7	23					0	0	0.004482	0	0
GPR37L1	9283	broad.mit.edu	37	1	202092519	202092519	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:202092519T>A	ENST00000367282.4	+	1	534	c.428T>A	c.(427-429)gTg>gAg	p.V143E		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	143						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GTGTTTGCGGTGGGCATTGTG	0.592000													17	49					0	0	0.004990	0	0
PCDH18	54510	broad.mit.edu	37	4	138449647	138449647	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:138449647C>T	ENST00000344876.4	-	3	3111	c.2725G>A	c.(2725-2727)Gga>Aga	p.G909R	PCDH18_ENST00000507846.1_Missense_Mutation_p.G688R|PCDH18_ENST00000412923.2_Missense_Mutation_p.G908R|PCDH18_ENST00000511115.1_Missense_Mutation_p.G89R|PCDH18_ENST00000510305.1_Missense_Mutation_p.G120R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	909	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGAATTCTTCCATCTGTGAGA	0.418000													36	131					0	0	0.005524	0	0
TMEM202	338949	broad.mit.edu	37	15	72691128	72691128	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:72691128C>T	ENST00000341689.3	+	2	270	c.216C>T	c.(214-216)atC>atT	p.I72I	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	72						integral to membrane		p.I72I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TAATGCTGATCGCCATGTCCC	0.522000													13	56					0	0	0.001368	0	0
PIBF1	10464	broad.mit.edu	37	13	73482807	73482807	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr13:73482807C>G	ENST00000326291.6	+	12	1965	c.1627C>G	c.(1627-1629)Caa>Gaa	p.Q543E		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	543						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AATAATAATGCAAACTGCAGA	0.378000													9	20					0	0	0.000443	0	0
TRPV6	55503	broad.mit.edu	37	7	142572879	142572879	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:142572879G>A	ENST00000359396.3	-	9	1406	c.1161C>T	c.(1159-1161)gtC>gtT	p.V387V		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	387					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CCAGCTCCCCGACCAGCCGGA	0.567000													26	90					0	0	0.005443	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107034755	107034755	+	RNA	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:107034755C>T	ENST00000390626.2	-	0	383																											ATGGCGGTGTCCGAGGCCTTC	0.582000													26	147					0	0	0.005443	0	0
ARMC5	79798	broad.mit.edu	37	16	31473806	31473806	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:31473806T>G	ENST00000457010.2	+	3	1639	c.938T>G	c.(937-939)cTg>cGg	p.L313R	ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Missense_Mutation_p.L313R|ARMC5_ENST00000538189.1_Missense_Mutation_p.L345R|ARMC5_ENST00000408912.3_Missense_Mutation_p.L408R|ARMC5_ENST00000563544.1_Missense_Mutation_p.L313R	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	313							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCCAGGGCCTGATTCGGCCT	0.652000													6	20					0	0	0.003080	0	0
CUL9	23113	broad.mit.edu	37	6	43153911	43153911	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:43153911C>T	ENST00000252050.4	+	4	1053	c.969C>T	c.(967-969)ctC>ctT	p.L323L	CUL9_ENST00000372647.2_Silent_p.L323L|CUL9_ENST00000354495.3_Silent_p.L323L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	323					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCCGGAACCTCAGCGAACAGG	0.607000													14	94					0	0	0.004007	0	0
OR9A2	135924	broad.mit.edu	37	7	142724010	142724010	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:142724010G>A	ENST00000350513.2	-	1	272	c.210C>T	c.(208-210)atC>atT	p.I70I		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TTGTGACCAGGATCTCCAGGG	0.468000													21	76					0	0	0.001882	0	0
STARD6	147323	broad.mit.edu	37	18	51858171	51858171	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr18:51858171C>T	ENST00000581310.1	-	7	699	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	STARD6_ENST00000580990.2_Silent_p.S16S|STARD6_ENST00000307844.3_Missense_Mutation_p.R109Q			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	109	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GATAAAGTCTCGAGGGGAAAT	0.378000													7	37					0	0	0.004482	0	0
FUK	197258	broad.mit.edu	37	16	70500048	70500048	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:70500048C>T	ENST00000288078.6	+	5	531	c.299C>T	c.(298-300)cCc>cTc	p.P100L	FUK_ENST00000428974.2_Missense_Mutation_p.P83L|FUK_ENST00000378912.2_Missense_Mutation_p.P132L|FUK_ENST00000571514.1_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	100						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CGAGACTTCCCCTTTGATGAC	0.622000													18	54					0	0	0.006122	0	0
PTGES3L-AARSD1	100885850	broad.mit.edu	37	17	41103881	41103881	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:41103881C>T	ENST00000421990.2	-	16	1906	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.E521K|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.E460K|AARSD1_ENST00000427569.2_Missense_Mutation_p.E347K|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.E430K	NM_001136042.2	NP_001129514.2																					CCACCTTTCTCATCGCCCACA	0.517000													13	65					0	0	0.001368	0	0
TTLL2	83887	broad.mit.edu	37	6	167754956	167754956	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:167754956C>T	ENST00000239587.5	+	3	1656	c.1568C>T	c.(1567-1569)cCc>cTc	p.P523L		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	523					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACACTCATGCCCTACGCGTCC	0.562000													25	63					0	0	0.005443	0	0
MALAT1	378938	broad.mit.edu	37	11	65265605	65265605	+	RNA	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:65265605C>T	ENST00000534336.1	+	0	373				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2																						AAAAAGCAGACCCAGAGCAGT	0.458000													10	33					0	0	0.000673	0	0
CCDC3	83643	broad.mit.edu	37	10	12940427	12940427	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:12940427G>A	ENST00000378839.1	-	7	1379	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L	CCDC3_ENST00000378825.3_Silent_p.L268L			Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	268						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			TACCCCCGCAGGTAGGGGGGG	0.647000													5	27					0	0	0.000602	0	0
COL4A4	1286	broad.mit.edu	37	2	227895314	227895314	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:227895314C>T	ENST00000396625.3	-	41	4025	c.3817_splice	c.e41-1	p.G1273_splice	COL4A4_ENST00000329662.7_Splice_Site_p.G1273_splice	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1273	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCAGGTGCTCCTGACCACAG	0.527000													10	33					0	0	0.000443	0	0
CD99	4267	broad.mit.edu	37	X	2609464	2609464	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrX:2609464C>T	ENST00000381192.3	+	1	245	c.63C>T	c.(61-63)gcC>gcT	p.A21A	CD99_ENST00000381184.1_Silent_p.A21A|CD99_ENST00000381180.3_Silent_p.A21A|CD99_ENST00000381187.3_Silent_p.A21A|CD99_ENST00000482405.2_3'UTR	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	21					cell adhesion	cytoplasm|integral to plasma membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						TGGTCGCCGCCCCGGGTGAGC	0.771000													3	4					0	0	0.004672	0	0
ADORA1	134	broad.mit.edu	37	1	203134704	203134704	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:203134704C>T	ENST00000367236.4	+	3	1578	c.657C>T	c.(655-657)tcC>tcT	p.S219S	ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Silent_p.S219S|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Silent_p.S219S	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	219					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		p.S219S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CGGCCTCCTCCGGCGACCCGC	0.582000													18	85					0	0	0.001882	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132415	59132415	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:59132415G>A	ENST00000313940.2	+	1	531	c.484G>A	c.(484-486)Ggt>Agt	p.G162S		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ATTCCAAATTGGTGCTTTGCT	0.458000													13	82					0	0	0.002450	0	0
KDM7A	80853	broad.mit.edu	37	7	139810919	139810919	+	Silent	SNP	A	A	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:139810919A>G	ENST00000397560.2	-	11	1501	c.1404T>C	c.(1402-1404)ctT>ctC	p.L468L	JHDM1D_ENST00000006967.5_Silent_p.L468L	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		468					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTACTTTAGAAAGTTCTTTAA	0.338000													12	52					0	0	0.001855	0	0
MYO18B	84700	broad.mit.edu	37	22	26173699	26173699	+	Silent	SNP	C	C	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:26173699C>G	ENST00000335473.7	+	8	2269	c.2019C>G	c.(2017-2019)gtC>gtG	p.V673V	MYO18B_ENST00000407587.2_Silent_p.V673V|MYO18B_ENST00000536101.1_Silent_p.V673V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	673	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTGAGCAGGTCCTGGAACACC	0.627000													14	62					0	0	0.004990	0	0
FPR2	2358	broad.mit.edu	37	19	52272419	52272419	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:52272419C>T	ENST00000598776.1	+	2	1280	c.508C>T	c.(508-510)Cca>Tca	p.P170S	FPR2_ENST00000340023.6_Missense_Mutation_p.P170S|FPR2_ENST00000598953.1_Missense_Mutation_p.P170S	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	170					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						AGTAACTATTCCAAATGGGGA	0.507000													20	54					0	0	0.002299	0	0
ITSN1	6453	broad.mit.edu	37	21	35094928	35094928	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr21:35094928T>A	ENST00000381318.3	+	4	445	c.157T>A	c.(157-159)Tta>Ata	p.L53I	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.L53I|ITSN1_ENST00000399367.3_Missense_Mutation_p.L53I|ITSN1_ENST00000437442.2_Missense_Mutation_p.L53I|ITSN1_ENST00000379960.5_Missense_Mutation_p.L53I|ITSN1_ENST00000399352.1_Missense_Mutation_p.L53I|ITSN1_ENST00000399355.2_Missense_Mutation_p.L53I|ITSN1_ENST00000381291.4_Missense_Mutation_p.L53I|ITSN1_ENST00000381285.4_Missense_Mutation_p.L53I|ITSN1_ENST00000399338.4_Missense_Mutation_p.L53I|ITSN1_ENST00000399353.1_Missense_Mutation_p.L53I|ITSN1_ENST00000399326.3_Missense_Mutation_p.L53I	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	53	EF-hand 1.|EH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCAATCTGGGTTACCTCAACC	0.294000													14	48					0	0	0.003163	0	0
OR2G6	391211	broad.mit.edu	37	1	248684993	248684993	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:248684993G>A	ENST00000343414.4	+	1	78	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTCTCCTGGGATTTTCAGA	0.423000													28	84					0	0	0.002096	0	0
PAGE5	90737	broad.mit.edu	37	X	55247081	55247081	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrX:55247081G>A	ENST00000289619.5	+	1	294	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	PAGE5_ENST00000374952.1_Intron|PAGE5_ENST00000374955.3_Intron	NM_130467.3	NP_569734.2	Q96GU1	GGEE1_HUMAN	P antigen family, member 5 (prostate associated)	17										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						AACGAGGGAGGAAGGTAGGCC	0.637000													4	6					0	0	0.000248	0	0
CD244	51744	broad.mit.edu	37	1	160832414	160832414	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:160832414C>T	ENST00000368034.4	-	1	231	c.54G>A	c.(52-54)caG>caA	p.Q18Q	CD244_ENST00000368032.2_Silent_p.Q18Q|CD244_ENST00000322302.7_Silent_p.Q18Q|CD244_ENST00000368033.3_Silent_p.Q18Q	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	18					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TACCTTTGCCCTGATACACCT	0.617000													5	45					0	0	0.001984	0	0
LRRC31	79782	broad.mit.edu	37	3	169578434	169578434	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:169578434G>A	ENST00000316428.5	-	3	459	c.402C>T	c.(400-402)atC>atT	p.I134I	LRRC31_ENST00000264676.5_Intron|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Silent_p.I134I	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	134										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTTGCTGAGTGATGGAAAGGA	0.463000													16	68					0	0	0.004007	0	0
VPS13D	55187	broad.mit.edu	37	1	12416532	12416532	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:12416532A>G	ENST00000358136.3	+	49	10079	c.9949A>G	c.(9949-9951)Agc>Ggc	p.S3317G	VPS13D_ENST00000356315.4_Missense_Mutation_p.S3292G	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3316					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCTGGCCCGTAGCCTGAGTCC	0.493000													11	42					0	0	0.001368	0	0
COASY	80347	broad.mit.edu	37	17	40717008	40717008	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:40717008C>T	ENST00000393818.2	+	5	1701	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	COASY_ENST00000420359.1_Silent_p.L415L|COASY_ENST00000421097.2_Silent_p.L415L|COASY_ENST00000590958.1_Silent_p.L444L|COASY_ENST00000449624.1_Silent_p.L120L	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	415	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAGATATTCTCCATAAAGATG	0.498000													21	74					0	0	0.003330	0	0
CEL	1056	broad.mit.edu	37	9	135946657	135946657	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:135946657G>C	ENST00000372080.4	+	11	1793	c.1777G>C	c.(1777-1779)Gcc>Ccc	p.A593P	CEL_ENST00000351304.7_Missense_Mutation_p.A524P	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	590	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGACTCCGGGGCCCCCCCCGT	0.816000													3	19					0	0	0.000248	0	0
ERP27	121506	broad.mit.edu	37	12	15067692	15067692	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:15067692T>A	ENST00000266397.2	-	7	1372	c.799A>T	c.(799-801)Aag>Tag	p.K267*	ERP27_ENST00000540097.1_Nonsense_Mutation_p.K166*	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	267						endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TTTGGAGTCTTTCCTTCTGAT	0.363000													16	33					0	0	0.006122	0	0
NDNF	79625	broad.mit.edu	37	4	121958404	121958404	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:121958404G>A	ENST00000379692.4	-	4	1248	c.722C>T	c.(721-723)cCg>cTg	p.P241L	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	241								p.P241Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						ACCAGGTTTCGGTGCCATCAT	0.453000													4	37					0	0	0.000248	0	0
CIITA	4261	broad.mit.edu	37	16	11000964	11000964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:11000964C>T	ENST00000324288.8	+	11	1748	c.1615C>T	c.(1615-1617)Cga>Tga	p.R539*	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	539	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GAAGCTGCTCCGAGGTTGCAC	0.687000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								4	23					0	0	0.000602	0	0
HRNR	388697	broad.mit.edu	37	1	152193185	152193185	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:152193185G>A	ENST00000368801.2	-	3	995	c.920C>T	c.(919-921)cCt>cTt	p.P307L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	307					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACGTGGCTAGGAGACTGGCG	0.592000													74	181					0	0	0.003610	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032355	10032355	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:10032355C>T	ENST00000396573.2	-	4	777	c.468G>A	c.(466-468)acG>acA	p.T156T	GRIN2A_ENST00000404927.2_Silent_p.T156T|GRIN2A_ENST00000562109.1_Silent_p.T156T|GRIN2A_ENST00000330684.3_Silent_p.T156T|GRIN2A_ENST00000535259.1_5'UTR|GRIN2A_ENST00000396575.2_Silent_p.T156T|GRIN2A_ENST00000566670.1_5'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	156					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T156T(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCAGCATGACCGTGGCTTGCT	0.507000													10	53					0	0	0.000673	0	0
DNAH5	1767	broad.mit.edu	37	5	13841988	13841988	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:13841988G>A	ENST00000265104.4	-	33	5401	c.5297C>T	c.(5296-5298)tCc>tTc	p.S1766F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1766	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCTTGAGAGGAAATTGACAG	0.333000									Kartagener syndrome				8	31					0	0	0.004482	0	0
ENO3	2027	broad.mit.edu	37	17	4856180	4856180	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:4856180G>A	ENST00000323997.6	+	3	308	c.176G>A	c.(175-177)gGg>gAg	p.G59E	ENO3_ENST00000519584.1_Missense_Mutation_p.G59E|ENO3_ENST00000518175.1_Missense_Mutation_p.G59E	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	59					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						CGCTACCTGGGGAAAGGTGAG	0.602000													4	17					0	0	0.000248	0	0
PODN	127435	broad.mit.edu	37	1	53544333	53544333	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:53544333C>T	ENST00000371500.3	+	10	1579	c.1238C>T	c.(1237-1239)aCc>aTc	p.T413I	PODN_ENST00000395871.2_Missense_Mutation_p.T290I|PODN_ENST00000312553.5_Missense_Mutation_p.T432I|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	384					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGCGTGCGCACCCTCATGATC	0.627000													25	90					0	0	0.002780	0	0
TMF1	7110	broad.mit.edu	37	3	69088085	69088085	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:69088085G>A	ENST00000543976.1	-	7	2158	c.1912C>T	c.(1912-1914)Caa>Taa	p.Q638*	CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000398559.2_Nonsense_Mutation_p.Q635*|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	635					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCTTTCTCTTGGCGTTCTACC	0.368000													12	49					0	0	0.000978	0	0
PKD1L1	168507	broad.mit.edu	37	7	47840383	47840383	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:47840383A>T	ENST00000289672.2	-	54	8107	c.8057T>A	c.(8056-8058)tTc>tAc	p.F2686Y	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2686					cell-cell adhesion	integral to membrane			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						CAGCCCGGGGAAGGCGTCTGT	0.577000													17	91					0	0	0.001523	0	0
DNAH5	1767	broad.mit.edu	37	5	13811926	13811926	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:13811926G>A	ENST00000265104.4	-	44	7341	c.7237C>T	c.(7237-7239)Ctt>Ttt	p.L2413F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2413	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGTTTCTTAAGAAAACCCTGT	0.373000									Kartagener syndrome				4	30					0	0	0.000248	0	0
CRYGD	1421	broad.mit.edu	37	2	208989071	208989071	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:208989071A>G	ENST00000264376.4	-	2	44	c.17T>C	c.(16-18)cTc>cCc	p.L6P		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	6	Beta/gamma crystallin 'Greek key' 1.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTCCTCGTAGAGGGTGATCTG	0.682000													6	16					0	0	0.001984	0	0
TNS4	84951	broad.mit.edu	37	17	38641257	38641257	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:38641257G>A	ENST00000254051.6	-	5	1449	c.1291C>T	c.(1291-1293)Ccc>Tcc	p.P431S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	431					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TCCCTGGCGGGACCTGGAGAC	0.542000													7	27					0	0	0.003080	0	0
CIT	11113	broad.mit.edu	37	12	120156162	120156162	+	Silent	SNP	C	C	T	rs140364771		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:120156162C>T	ENST00000392521.2	-	32	4111	c.4056G>A	c.(4054-4056)gcG>gcA	p.A1352A	CIT_ENST00000261833.7_Silent_p.A1310A|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1310					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTGCTGCCTCGCGGTGGCTG	0.642000													12	57					0	0	0.001855	0	0
PMM1	5372	broad.mit.edu	37	22	41979976	41979976	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:41979976G>A	ENST00000216259.7	-	5	545	c.461C>T	c.(460-462)tCc>tTc	p.S154F		NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	154					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						GTCCAGTTCGGAGAACTCGAT	0.507000													14	62					0	0	0.006122	0	0
BAGE2	85319	broad.mit.edu	37	21	11038844	11038844	+	RNA	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr21:11038844G>A	ENST00000470054.1	-	0	1359									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCCAGCAGAGGAACTAAGAGC	0.448000													24	197					0	0	0.004656	0	0
CHST10	9486	broad.mit.edu	37	2	101023068	101023068	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:101023068A>G	ENST00000264249.3	-	3	455	c.70T>C	c.(70-72)Ttc>Ctc	p.F24L	CHST10_ENST00000542617.1_Missense_Mutation_p.F72L|CHST10_ENST00000409701.1_Missense_Mutation_p.F24L	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	24					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						AACGTGATGAACTTGCTAGCC	0.473000													63	221					0	0	0.003610	0	0
MTDH	92140	broad.mit.edu	37	8	98703286	98703286	+	Silent	SNP	C	C	T	rs142598802		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:98703286C>T	ENST00000336273.3	+	6	1246	c.918C>T	c.(916-918)tcC>tcT	p.S306S	MTDH_ENST00000519934.1_Silent_p.S283S	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	306					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	p.S306S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			AGTGGAACTCCGTTTCACCTG	0.468000													12	88					0	0	0.000978	0	0
ABCB11	8647	broad.mit.edu	37	2	169801162	169801162	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:169801162C>T	ENST00000263817.6	-	21	2687	c.2563G>A	c.(2563-2565)Gga>Aga	p.G855R		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	855	ABC transmembrane type-1 2.		G -> R (in ethinylestradiol/gestodene- induced cholestasis; loss of transport capacity for taurocholate).		bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GTCAATGCTCCAGGGCTATTT	0.443000													12	44					0	0	0.002450	0	0
DCBLD1	285761	broad.mit.edu	37	6	117825084	117825084	+	Silent	SNP	C	C	T	rs76896058	byFrequency	TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:117825084C>T	ENST00000338728.5	+	2	387	c.267C>T	c.(265-267)atC>atT	p.I89I	DCBLD1_ENST00000368503.4_Silent_p.I89I|DCBLD1_ENST00000296955.8_Silent_p.I89I|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	89	CUB.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		ATTTGGATATCGAATCCCAGA	0.413000													22	58					0	0	0.003954	0	0
RHOXF2	84528	broad.mit.edu	37	X	119293172	119293172	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrX:119293172G>A	ENST00000371388.3	+	2	521	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	111						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						CGACCAGAGCGAGAAGGAACC	0.667000													6	11					0	0	0.000443	0	0
ENG	2022	broad.mit.edu	37	9	130605473	130605473	+	Missense_Mutation	SNP	C	C	T	rs11545665		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:130605473C>T	ENST00000344849.3	-	2	399	c.119G>A	c.(118-120)gGc>gAc	p.G40D	ENG_ENST00000373203.4_Missense_Mutation_p.G40D			P17813	EGLN_HUMAN	endoglin	40					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TGTCACCTCGCCCCTCTCGGG	0.562000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				31	88					0	0	0.002096	0	0
NID1	4811	broad.mit.edu	37	1	236212199	236212199	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:236212199G>A	ENST00000264187.6	-	2	398	c.316C>T	c.(316-318)Cct>Tct	p.P106S	NID1_ENST00000366595.3_Missense_Mutation_p.P106S	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	106	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCCAGGAAAGGGGCGACTGCA	0.552000													34	95					0	0	0.004878	0	0
RNF213	57674	broad.mit.edu	37	17	78262068	78262068	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:78262068A>T	ENST00000582970.1	+	4	859	c.716A>T	c.(715-717)cAg>cTg	p.Q239L	RNF213_ENST00000456466.1_Missense_Mutation_p.Q239L|RNF213_ENST00000508628.2_Missense_Mutation_p.Q288L|RNF213_ENST00000319921.4_Missense_Mutation_p.Q239L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	239										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATGCTGCCCAGGAGCTCCTG	0.632000													20	52					0	0	0.001523	0	0
PHF20L1	51105	broad.mit.edu	37	8	133816952	133816952	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:133816952C>T	ENST00000395386.2	+	8	1113	c.814C>T	c.(814-816)Cag>Tag	p.Q272*	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000315808.10_Nonsense_Mutation_p.Q272*|PHF20L1_ENST00000395374.1_Nonsense_Mutation_p.Q111*|PHF20L1_ENST00000395376.1_Nonsense_Mutation_p.Q277*|PHF20L1_ENST00000395383.1_Nonsense_Mutation_p.Q276*|PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.Q247*|PHF20L1_ENST00000337920.4_Nonsense_Mutation_p.Q246*|PHF20L1_ENST00000395382.3_Nonsense_Mutation_p.Q142*|PHF20L1_ENST00000395379.1_Nonsense_Mutation_p.Q272*	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	272							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CAACTCGTTTCAGGCAAAGAG	0.363000													10	50					0	0	0.000978	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438313	204438313	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:204438313C>T	ENST00000367187.3	-	3	1174	c.618G>A	c.(616-618)cgG>cgA	p.R206R	PIK3C2B_ENST00000424712.2_Silent_p.R206R	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	206	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTTCTAGGATCCGATGCTCTA	0.537000													118	276					0	0	0.003610	0	0
TENM1	10178	broad.mit.edu	37	X	123615660	123615660	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrX:123615660C>T	ENST00000422452.2	-	22	3934	c.3871G>A	c.(3871-3873)Gat>Aat	p.D1291N	TENM1_ENST00000371130.3_Missense_Mutation_p.D1284N|TENM1_ENST00000461429.1_5'UTR	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AGGCACTGATCACCAGTTCCT	0.423000													16	46					0	0	0.001216	0	0
SAMD14	201191	broad.mit.edu	37	17	48193396	48193396	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:48193396C>T	ENST00000330175.4	-	5	875	c.558G>A	c.(556-558)aaG>aaA	p.K186K	SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Silent_p.K186K	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	186										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GGCGAGTCTTCTTATCGAGGC	0.627000													5	30					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179577973	179577973	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:179577973C>T	ENST00000589042.1	-	93	27112	c.26888G>A	c.(26887-26889)gGa>gAa	p.G8963E	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G8646E|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G7719E|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8646	Ig-like 72.						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)			GATCTCATTTCCTTCATGGAA	0.433000													4	16					0	0	0.000248	0	0
LRP2BP	55805	broad.mit.edu	37	4	186296788	186296788	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr4:186296788C>T	ENST00000362004.3	-	3	1126	c.315G>A	c.(313-315)ggG>ggA	p.G105G	LRP2BP_ENST00000510776.1_Silent_p.G77G|LRP2BP_ENST00000328559.7_Silent_p.G103G|LRP2BP_ENST00000505916.1_Silent_p.G103G|RP11-714G18.1_ENST00000514884.1_RNA			Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	103						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TGGTCCCCAGCCCATCATAGT	0.383000													15	55					0	0	0.004007	0	0
CDC25A	993	broad.mit.edu	37	3	48226167	48226167	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:48226167G>A	ENST00000302506.3	-	3	674	c.266C>T	c.(265-267)cCt>cTt	p.P89L	CDC25A_ENST00000351231.3_Missense_Mutation_p.P89L	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	89					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CAATGGCCCAGGAGAATCTAG	0.289000													5	27					0	0	0.000602	0	0
FLNC	2318	broad.mit.edu	37	7	128480651	128480651	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:128480651C>T	ENST00000325888.8	+	10	1860	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	FLNC_ENST00000346177.6_Silent_p.F533F	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	533					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ATGGTGTGTTCGAGTGCGAGT	0.617000													24	93					0	0	0.003330	0	0
IDO1	3620	broad.mit.edu	37	8	39781071	39781071	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:39781071G>A	ENST00000518237.1	+	7	1260	c.621G>A	c.(619-621)ttG>ttA	p.L207L	IDO1_ENST00000522495.1_Silent_p.L207L|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	207					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	CTTCTTGCTTGGAGAAAGCCC	0.423000													7	29					0	0	0.001984	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835271	12835271	+	Silent	SNP	A	A	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:12835271A>C	ENST00000357726.4	+	1	288	c.261A>C	c.(259-261)gcA>gcC	p.A87A		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	87										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTGATGCACTGCTTGCCC	0.587000													30	56					0	0	0.002836	0	0
BAG3	9531	broad.mit.edu	37	10	121436223	121436223	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:121436223C>T	ENST00000369085.3	+	4	1463	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	386					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GTCCCCTCTTCCCCCAAGAGT	0.607000													15	46					0	0	0.004990	0	0
PTK2B	2185	broad.mit.edu	37	8	27295362	27295362	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:27295362C>T	ENST00000397501.1	+	23	2416	c.1608C>T	c.(1606-1608)gcC>gcT	p.A536A	PTK2B_ENST00000338238.4_Silent_p.A536A|PTK2B_ENST00000517339.1_Silent_p.A536A|PTK2B_ENST00000420218.2_Silent_p.A536A|PTK2B_ENST00000397497.4_Silent_p.A282A|PTK2B_ENST00000544172.1_Silent_p.A536A|PTK2B_ENST00000346049.5_Silent_p.A536A	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	536	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TATGCAAAGCCATGGCCTACC	0.597000													6	16					0	0	0.001984	0	0
OR14I1	401994	broad.mit.edu	37	1	248845431	248845431	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:248845431A>C	ENST00000342623.3	-	1	198	c.175T>G	c.(175-177)Ttc>Gtc	p.F59V		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TTCAGGAAGAAGTACATGGGT	0.502000													16	37					0	0	0.005443	0	0
DYM	54808	broad.mit.edu	37	18	46860203	46860203	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr18:46860203G>A	ENST00000269445.6	-	7	972	c.515C>T	c.(514-516)tCa>tTa	p.S172L	DYM_ENST00000578396.1_Missense_Mutation_p.S17L|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	172						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AGCTTCTACTGATATTTCATA	0.338000													15	52					0	0	0.001216	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918568	51918568	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:51918568C>T	ENST00000353836.5	-	7	1418	c.1197G>A	c.(1195-1197)ctG>ctA	p.L399L	SIGLEC10_ENST00000339313.5_Silent_p.L399L|SIGLEC10_ENST00000439889.2_Silent_p.L341L|SIGLEC10_ENST00000525998.1_Silent_p.L309L|SIGLEC10_ENST00000441969.3_Silent_p.L341L|SIGLEC10_ENST00000432469.2_Silent_p.L316L|SIGLEC10_ENST00000442846.3_Silent_p.L251L|SIGLEC10_ENST00000436984.2_Silent_p.L351L|SIGLEC10_ENST00000356298.5_Silent_p.L399L	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	399	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGGAGGGGCTCAGAACCTGTC	0.662000													9	44					0	0	0.000443	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348656	140348656	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:140348656C>T	ENST00000289269.5	+	1	2837	c.2305C>T	c.(2305-2307)Ccg>Tcg	p.P769S	PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		769					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCAGGATACCGCATGGCCT	0.527000													14	52					0	0	0.002450	0	0
CDH11	1009	broad.mit.edu	37	16	65016033	65016033	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:65016033C>T	ENST00000394156.3	-	8	1624	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	CDH11_ENST00000566827.1_Missense_Mutation_p.E265K|CDH11_ENST00000268603.4_Missense_Mutation_p.E391K			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	391	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCTTGGACTTCGTGGATGTAA	0.502000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			23	87					0	0	0.002299	0	0
OR5M1	390168	broad.mit.edu	37	11	56380251	56380251	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:56380251G>A	ENST00000526538.1	-	1	727	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TGTCAGGTGGGAAGCACACGT	0.448000													17	58					0	0	0.002299	0	0
PCDH1	5097	broad.mit.edu	37	5	141233812	141233812	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:141233812C>T	ENST00000287008.3	-	5	3656	c.3509G>A	c.(3508-3510)gGc>gAc	p.G1170D	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GCTGGGGCTGCCGGCGCCCGC	0.672000													4	11					0	0	0.000248	0	0
MUC3A	4584	broad.mit.edu	37	7	100552193	100552193	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:100552193C>T	ENST00000319509.7	+	1	944	c.944C>T	c.(943-945)tCc>tTc	p.S315F						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCTTATATTTCCCTTCCCTCC	0.488000													26	326					0	0	0.005443	0	0
SCEL	8796	broad.mit.edu	37	13	78214852	78214852	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr13:78214852C>T	ENST00000535157.1	+	29	1924	c.1754C>T	c.(1753-1755)cCc>cTc	p.P585L	SCEL_ENST00000377246.3_Missense_Mutation_p.P607L|SCEL_ENST00000349847.3_Missense_Mutation_p.P627L	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	627					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TGCCGAAAACCCTTGGGTGTA	0.303000													4	17					0	0	0.000248	0	0
CBFB	865	broad.mit.edu	37	16	67132620	67132620	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:67132620G>A	ENST00000412916.2	+	6	666	c.503G>A	c.(502-504)aGa>aAa	p.R168K	CBFB_ENST00000568858.1_3'UTR|CBFB_ENST00000290858.6_Silent_p.K178K|CBFB_ENST00000561924.2_Silent_p.K78K			Q13951	PEBB_HUMAN	core-binding factor, beta subunit	168					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		CAGGCAAGAAGACAACAAGAC	0.373000			T	MYH11	AML								12	60					0	0	0.002450	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332607	22332607	+	RNA	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:22332607C>T	ENST00000558896.1	+	0	414																											TTTAGGTCATCTCTCTTTCAT	0.433000													8	54					0	0	0.000443	0	0
OR4K13	390433	broad.mit.edu	37	14	20502848	20502848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:20502848G>A	ENST00000315693.2	-	1	71	c.70C>T	c.(70-72)Cag>Tag	p.Q24*		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AATAAAATCTGAAGATTTTGA	0.393000													5	20					0	0	0.000602	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711008	140711008	+	Missense_Mutation	SNP	G	G	A	rs140226913	by1000genomes	TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr5:140711008G>A	ENST00000517417.1	+	1	757	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E253K	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGTCCCCGAAAACGTGCC	0.488000													11	46					0	0	0.000673	0	0
OR5M1	390168	broad.mit.edu	37	11	56380100	56380100	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:56380100C>T	ENST00000526538.1	-	1	878	c.879G>A	c.(877-879)cgG>cgA	p.R293R		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CATCTGTGTTCCGTAGGCTAT	0.393000													25	102					0	0	0.001786	0	0
ABLIM1	3983	broad.mit.edu	37	10	116207724	116207724	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:116207724G>A	ENST00000533213.2	-	15	1771	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	ABLIM1_ENST00000392952.3_Silent_p.F227F|ABLIM1_ENST00000369253.2_Silent_p.F173F|ABLIM1_ENST00000369266.3_Silent_p.F227F|ABLIM1_ENST00000277895.5_Silent_p.F550F|ABLIM1_ENST00000369252.4_Silent_p.F490F			O14639	ABLM1_HUMAN	actin binding LIM protein 1	550					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GGGCTGCTGGGAACTTGGAAA	0.537000													16	76					0	0	0.004007	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938863	2938863	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:2938863C>T	ENST00000378404.2	+	1	818	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	205						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCACACCTTCCCCTGCCAGCT	0.642000													5	41					0	0	0.003080	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464243	141464243	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:141464243G>A	ENST00000247879.2	+	1	347	c.285G>A	c.(283-285)ctG>ctA	p.L95L	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	95					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CAAACCATCTGAGCATTTGGC	0.423000													41	134					0	0	0.002852	0	0
CEP170B	283638	broad.mit.edu	37	14	105349500	105349500	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:105349500C>T	ENST00000453495.1	+	8	937	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	CEP170B_ENST00000556508.1_Missense_Mutation_p.P166S|CEP170B_ENST00000418279.1_Missense_Mutation_p.P166S|CEP170B_ENST00000414716.3_Missense_Mutation_p.P236S					centrosomal protein 170B																		GACCCCGCAGCCGTCGCAGCC	0.716000													4	10					0	0	0.000248	0	0
CDH23	64072	broad.mit.edu	37	10	73494026	73494026	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr10:73494026C>T	ENST00000224721.6	+	32	4154	c.4149C>T	c.(4147-4149)gaC>gaT	p.D1383D	C10orf105_ENST00000398786.2_Intron	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1378	Cadherin 13.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCTGGTGGACCGTGAGAAGG	0.602000													5	11					0	0	0.001168	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696528	153696528	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrX:153696528C>T	ENST00000369682.3	+	22	4099	c.3924C>T	c.(3922-3924)ttC>ttT	p.F1308F		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1308					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGTGCTCTTCCCGGGCATCG	0.637000													19	33					0	0	0.001216	0	0
MORF4L1	10933	broad.mit.edu	37	15	79185883	79185883	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:79185883C>T	ENST00000331268.5	+	10	864	c.660C>T	c.(658-660)ctC>ctT	p.L220L	MORF4L1_ENST00000559345.1_Silent_p.L93L|MORF4L1_ENST00000558502.1_Silent_p.L93L|MORF4L1_ENST00000558746.1_Silent_p.L154L|MORF4L1_ENST00000426013.2_Silent_p.L181L|MORF4L1_ENST00000379535.4_Silent_p.L206L|MORF4L1_ENST00000561171.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	220	Interaction with RB1-1.|Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						CTTCATAGCTCTTTTATCTTC	0.308000													10	65					0	0	0.000673	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51633275	51633275	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:51633275G>C	ENST00000250360.3	+	7	1398	c.1331G>C	c.(1330-1332)tGg>tCg	p.W444S	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	444					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GTGAAGCCTTGGGACTCGCGG	0.597000													18	51					0	0	0.004990	0	0
NLRP11	204801	broad.mit.edu	37	19	56329409	56329409	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:56329409C>T	ENST00000443188.1	-	4	842	c.132G>A	c.(130-132)ctG>ctA	p.L44L	NLRP11_ENST00000589824.2_Silent_p.L44L|NLRP11_ENST00000589093.1_Silent_p.L44L|NLRP11_ENST00000360133.3_Silent_p.L44L|NLRP11_ENST00000592953.1_Intron	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	44	DAPIN.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCATCTGTATCAGTGGAAACT	0.388000													14	59					0	0	0.003163	0	0
ATN1	1822	broad.mit.edu	37	12	7050126	7050126	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:7050126C>T	ENST00000356654.4	+	8	3535	c.3298C>T	c.(3298-3300)Cct>Tct	p.P1100S	ATN1_ENST00000396684.2_Missense_Mutation_p.P1100S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1100					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGGAACTCTCCCTAACCCCCT	0.577000													7	38					0	0	0.001984	0	0
SCN10A	6336	broad.mit.edu	37	3	38753839	38753839	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:38753839T>G	ENST00000449082.2	-	22	3901	c.3902A>C	c.(3901-3903)aAc>aCc	p.N1301T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1301					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGCGAAGAGGTTCACACCCAT	0.502000													22	66					0	0	0.001882	0	0
SULT1C3	442038	broad.mit.edu	37	2	108872049	108872049	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:108872049C>T	ENST00000329106.2	+	4	421	c.421C>T	c.(421-423)Ccc>Tcc	p.P141S	SULT1C3_ENST00000376700.1_Missense_Mutation_p.P141S	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	141						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GGCCAGAAATCCCAAGGATTG	0.423000													11	52					0	0	0.001368	0	0
ITGA7	3679	broad.mit.edu	37	12	56090749	56090749	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:56090749G>A	ENST00000257880.7	-	13	2022	c.1803C>T	c.(1801-1803)gcC>gcT	p.A601A	ITGA7_ENST00000553804.1_Silent_p.A561A|ITGA7_ENST00000257879.6_Silent_p.A557A|ITGA7_ENST00000394230.2_Silent_p.A561A|ITGA7_ENST00000555728.1_Silent_p.A601A|ITGA7_ENST00000394229.2_Silent_p.A557A|ITGA7_ENST00000347027.6_Silent_p.A551A|ITGA7_ENST00000452168.2_Silent_p.A464A			Q13683	ITA7_HUMAN	integrin, alpha 7	601					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CGGTGCCCGAGGCCTGGTGCT	0.607000													8	35					0	0	0.003080	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996335	140996335	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chrX:140996335G>A	ENST00000285879.4	+	4	3431	c.3145G>A	c.(3145-3147)Gtg>Atg	p.V1049M	MAGEC1_ENST00000406005.2_Missense_Mutation_p.V116M	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1049	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TAAAGTTTGGGTGCAGGAACA	0.542000										HNSCC(15;0.026)			14	65					0	0	0.001855	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895623	24895623	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr13:24895623A>T	ENST00000382071.2	+	4	804	c.719A>T	c.(718-720)aAa>aTa	p.K240I	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.K240I			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	240	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GCAGCGGGGAAATTCACGTGC	0.413000													18	136					0	0	0.001882	0	0
BRWD1	54014	broad.mit.edu	37	21	40587164	40587164	+	Splice_Site	SNP	T	T	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr21:40587164T>C	ENST00000342449.3	-	32	3862	c.3785_splice	c.e32+1	p.K1262_splice	BRWD1_ENST00000380800.3_Splice_Site_p.K1262_splice|BRWD1_ENST00000333229.2_Splice_Site_p.K1262_splice	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTACTTACTTGATAAATTTT	0.353000													11	23					0	0	0.000673	0	0
CLCNKB	1188	broad.mit.edu	37	1	16383395	16383395	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:16383395C>T	ENST00000375679.4	+	20	2159	c.2048C>T	c.(2047-2049)cCg>cTg	p.P683L	CLCNKB_ENST00000375667.3_Missense_Mutation_p.P513L	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTGACAAATCCGCCAGCCCCA	0.572000													13	24					0	0	0.002450	0	0
MLLT6	4302	broad.mit.edu	37	17	36873075	36873075	+	Silent	SNP	T	T	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:36873075T>C	ENST00000325718.7	+	10	1583	c.1492T>C	c.(1492-1494)Ttg>Ctg	p.L498L	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	498					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					TGCCCCATCCTTGCCCAGTGC	0.667000			T	MLL	AL								3	9					0	0	0.004672	0	0
PRKDC	5591	broad.mit.edu	37	8	48805886	48805886	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr8:48805886G>A	ENST00000314191.2	-	31	3716	c.3660C>T	c.(3658-3660)ctC>ctT	p.L1220L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L1220L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1220					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGTGTTGATGAGAAAAGAGA	0.507000								Non-homologous end-joining					6	50					0	0	0.001168	0	0
NLRP7	199713	broad.mit.edu	37	19	55450300	55450300	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:55450300G>A	ENST00000446217.1	-	6	2373	c.1971C>T	c.(1969-1971)ttC>ttT	p.F657F	NLRP7_ENST00000340844.2_Silent_p.F629F|NLRP7_ENST00000328092.5_Silent_p.F629F|NLRP7_ENST00000448121.2_Silent_p.F629F|NLRP7_ENST00000592784.1_Silent_p.F629F|NLRP7_ENST00000590030.1_Silent_p.F629F|NLRP7_ENST00000588756.1_Silent_p.F629F			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	629							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AATTCTCCAGGAACACCCCCT	0.453000													18	49					0	0	0.006122	0	0
LYPD4	147719	broad.mit.edu	37	19	42342325	42342325	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:42342325C>T	ENST00000330743.3	-	4	1433	c.222G>A	c.(220-222)agG>agA	p.R74R	LYPD4_ENST00000343055.4_Silent_p.R39R|LYPD4_ENST00000601246.1_Silent_p.R39R	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	74						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CCACAACTCCCCTTGCAGTCC	0.577000													8	26					0	0	0.000673	0	0
MAP7	9053	broad.mit.edu	37	6	136693694	136693694	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:136693694A>C	ENST00000354570.3	-	8	1231	c.821T>G	c.(820-822)cTc>cGc	p.L274R	MAP7_ENST00000432797.2_Missense_Mutation_p.L128R|MAP7_ENST00000544465.1_Missense_Mutation_p.L259R|MAP7_ENST00000454590.1_Missense_Mutation_p.L296R|MAP7_ENST00000438100.2_Missense_Mutation_p.L259R	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	274					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGTTACAAAGAGTTTTGGTCG	0.527000													16	49					0	0	0.004990	0	0
RTP3	83597	broad.mit.edu	37	3	46542110	46542110	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:46542110C>T	ENST00000296142.3	+	2	992	c.420C>T	c.(418-420)atC>atT	p.I140I		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	140					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TTCCTATGATCAAGGACATCT	0.473000													24	92					0	0	0.003330	0	0
PNISR	25957	broad.mit.edu	37	6	99849093	99849093	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:99849093T>A	ENST00000369239.5	-	12	1945	c.1741A>T	c.(1741-1743)Aaa>Taa	p.K581*	PNISR_ENST00000438806.1_Nonsense_Mutation_p.K581*	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	581						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTCTCTATTTTAATTCTGCGA	0.408000													22	86					0	0	0.002780	0	0
RASD2	23551	broad.mit.edu	37	22	35943021	35943021	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr22:35943021C>T	ENST00000216127.4	+	2	807	c.165C>T	c.(163-165)ttC>ttT	p.F55F		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	55					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						TCGAGGACTTCCACCGTAAGG	0.602000													8	28					0	0	0.003080	0	0
ITGA10	8515	broad.mit.edu	37	1	145535786	145535786	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:145535786C>T	ENST00000369304.3	+	16	2149	c.1974C>T	c.(1972-1974)gcC>gcT	p.A658A	ITGA10_ENST00000538811.1_Silent_p.A527A|ITGA10_ENST00000539363.1_Silent_p.A515A	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	658					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCCACAGGCCATCAGTGTGG	0.577000													39	116					0	0	0.001706	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325354	47325354	+	RNA	SNP	G	G	A	rs4660360	by1000genomes	TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:47325354G>A	ENST00000505841.1	-	0	1175					NR_002788.2																						CATCTGGAAAGGTAATGGGTT	0.438000													6	76					0	0	0.003080	0	0
MAATS1	89876	broad.mit.edu	37	3	119458102	119458102	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:119458102G>A	ENST00000273390.5	+	12	1539	c.1461_splice	c.e12-1	p.E488_splice		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		GTTCTTTTAGGAAGAAGAAGA	0.438000													39	153					0	0	0.001485	0	0
SREBF1	6720	broad.mit.edu	37	17	17719280	17719280	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:17719280G>A	ENST00000355815.4	-	13	2536	c.2367C>T	c.(2365-2367)gcC>gcT	p.A789A	SREBF1_ENST00000261646.5_Silent_p.A759A|SREBF1_ENST00000395757.1_Silent_p.A505A|SREBF1_ENST00000338854.5_Silent_p.A759A	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	759					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GCCACTGCATGGCAGGAGGCA	0.647000													13	39					0	0	0.002450	0	0
GOT2	2806	broad.mit.edu	37	16	58749966	58749966	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr16:58749966G>A	ENST00000245206.5	-	8	1099	c.971C>T	c.(970-972)gCc>gTc	p.A324V	GOT2_ENST00000434819.2_Missense_Mutation_p.A281V|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	324					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGCAATCCGGGCCCCATTGAG	0.512000													10	49					0	0	0.000673	0	0
OR51B5	282763	broad.mit.edu	37	11	5364734	5364734	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:5364734G>A	ENST00000300773.2	-	1	75	c.21C>T	c.(19-21)tcC>tcT	p.S7S	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAAGGGATGGGAGCTGCCGC	0.428000													6	20					0	0	0.001168	0	0
CCER1	196477	broad.mit.edu	37	12	91347766	91347766	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:91347766C>T	ENST00000358859.2	-	1	1187	c.754G>A	c.(754-756)Ggc>Agc	p.G252S	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		TGCACAAAGCCATACAGAGTT	0.592000													64	284					0	0	0.003610	0	0
HPX	3263	broad.mit.edu	37	11	6459666	6459666	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:6459666G>A	ENST00000265983.3	-	5	510	c.410C>T	c.(409-411)cCt>cTt	p.P137L	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	137	Hemopexin-like 2.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TGGGATTCCAGGAAATTCATC	0.488000													15	80					0	0	0.003163	0	0
OAS3	4940	broad.mit.edu	37	12	113386914	113386914	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr12:113386914G>A	ENST00000228928.7	+	6	1457	c.1278G>A	c.(1276-1278)ccG>ccA	p.P426P	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	426	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	p.P426P(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						ACCTGAAGCCGAGCCCCCAGT	0.577000													10	42					0	0	0.000443	0	0
LAMC3	10319	broad.mit.edu	37	9	133960930	133960930	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:133960930C>T	ENST00000361069.4	+	25	4183	c.4050C>T	c.(4048-4050)ccC>ccT	p.P1350P	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1350	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGCAGTTTCCCCGGCCCAAGG	0.632000													10	41					0	0	0.000443	0	0
FAM222B	55731	broad.mit.edu	37	17	27086634	27086634	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:27086634C>T	ENST00000341217.5	-	3	558	c.343G>A	c.(343-345)Gac>Aac	p.D115N	FAM222B_ENST00000452648.3_Missense_Mutation_p.D115N|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000581407.1_Missense_Mutation_p.D115N|FAM222B_ENST00000581381.1_3'UTR|FAM222B_ENST00000577682.1_3'UTR|FAM222B_ENST00000582059.1_3'UTR|FAM222B_ENST00000583953.1_3'UTR|FAM222B_ENST00000583522.1_3'UTR	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN	family with sequence similarity 222, member B	115																	CCGTCAAAGTCCTTGAGTATG	0.612000													6	12					0	0	0.001984	0	0
IQCF3	401067	broad.mit.edu	37	3	51863708	51863708	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:51863708G>A	ENST00000456080.1	+	7	1211	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	IQCF3_ENST00000446775.1_Missense_Mutation_p.E16K|IQCF3_ENST00000444293.1_Missense_Mutation_p.E16K|IQCF3_ENST00000437810.2_Missense_Mutation_p.E16K|IQCF3_ENST00000440739.2_Missense_Mutation_p.E16K			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	16										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGATGCAGTAGAAAGACAGAG	0.532000													9	19					0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9077538	9077538	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:9077538C>T	ENST00000397910.4	-	3	10111	c.9908G>A	c.(9907-9909)gGg>gAg	p.G3303E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3304	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGCCTGGTCCCTCCTGGAGT	0.527000													45	63					0	0	0.003214	0	0
NLRP5	126206	broad.mit.edu	37	19	56515323	56515323	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:56515323G>A	ENST00000390649.3	+	2	304	c.304G>A	c.(304-306)Gag>Aag	p.E102K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	102	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTTTGAAATCGAGAATGCCAA	0.423000													11	47					0	0	0.000978	0	0
ZNF599	148103	broad.mit.edu	37	19	35251284	35251284	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:35251284G>A	ENST00000329285.7	-	4	795	c.422C>T	c.(421-423)cCc>cTc	p.P141L		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CTCTTTGTGGGGGTTTGTTCC	0.453000													29	99					0	0	0.003271	0	0
NCR2	9436	broad.mit.edu	37	6	41318504	41318504	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:41318504C>T	ENST00000373089.5	+	5	821	c.733C>T	c.(733-735)Ccc>Tcc	p.P245S	NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	245					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					cacggaccttccctggacctc	0.473000													10	45					0	0	0.000673	0	0
MUC17	140453	broad.mit.edu	37	7	100677647	100677647	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:100677647C>T	ENST00000306151.4	+	3	3014	c.2950C>T	c.(2950-2952)Cca>Tca	p.P984S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	984	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					AGGAACGACTCCATTAACAAG	0.512000													81	319					0	0	0.003610	0	0
PAPPA	5069	broad.mit.edu	37	9	119124940	119124940	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:119124940G>A	ENST00000328252.3	+	18	4786	c.4417G>A	c.(4417-4419)Gag>Aag	p.E1473K	PAPPA_ENST00000534838.1_Missense_Mutation_p.E511K	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1473	Sushi 4.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.E1473K(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTCTGCCAGGAGATGCAAGG	0.537000													14	43					0	0	0.002450	0	0
ITGB5	3693	broad.mit.edu	37	3	124540215	124540215	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:124540215T>A	ENST00000296181.4	-	6	1183	c.887A>T	c.(886-888)cAc>cTc	p.H296L	ITGB5_ENST00000488466.1_Intron	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	296	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CTGGCCATCGTGTGGCTGCAC	0.562000													6	30					0	0	0.004482	0	0
COL11A2	1302	broad.mit.edu	37	6	33136330	33136330	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:33136330C>T	ENST00000341947.2	-	54	4153	c.3926G>A	c.(3925-3927)gGg>gAg	p.G1309E	COL11A2_ENST00000374713.1_Missense_Mutation_p.G1262E|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1223E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1249E|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1202E|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1228E|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1288E|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1283E	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1309	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCCATTCTCCCCGGTGGGACC	0.632000													4	35					0	0	0.000602	0	0
LRRC15	131578	broad.mit.edu	37	3	194080933	194080933	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:194080933G>A	ENST00000347624.3	-	2	925	c.840C>T	c.(838-840)tcC>tcT	p.S280S	LRRC15_ENST00000439944.2_Silent_p.S286S|LRRC15_ENST00000428839.1_Silent_p.S286S	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	280						integral to membrane		p.S280S(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GCTCCTTCAGGGAATTCCCAA	0.557000													11	42					0	0	0.000978	0	0
PSD4	23550	broad.mit.edu	37	2	113940401	113940401	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:113940401G>A	ENST00000245796.6	+	2	563	c.368G>A	c.(367-369)aGg>aAg	p.R123K	PSD4_ENST00000441564.2_Missense_Mutation_p.R123K|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	123					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTGCCCAGAGGGAGCACAGG	0.617000													8	53					0	0	0.004482	0	0
CDCP1	64866	broad.mit.edu	37	3	45134979	45134979	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:45134979C>T	ENST00000296129.1	-	6	1551	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	473	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CAGGGCTTCTCGTGTGTATGC	0.612000													17	36					0	0	0.004990	0	0
ATP8B4	79895	broad.mit.edu	37	15	50152464	50152464	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr15:50152464C>T	ENST00000284509.6	-	28	3647	c.3506G>A	c.(3505-3507)tGg>tAg	p.W1169*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.W1169*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1169					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATTTTCAATCCAGCTAGTGCT	0.393000													21	79					0	0	0.001523	0	0
MUC16	94025	broad.mit.edu	37	19	9070973	9070973	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:9070973C>T	ENST00000397910.4	-	3	16676	c.16473G>A	c.(16471-16473)gaG>gaA	p.E5491E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5493	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACGTGCTGCTCTCCCTCAGTC	0.483000													13	47					0	0	0.001368	0	0
FIG4	9896	broad.mit.edu	37	6	110083360	110083360	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr6:110083360C>T	ENST00000230124.3	+	12	1462	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	FIG4_ENST00000441478.2_Silent_p.F169F	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	446	SAC.				cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		AAACAGGTTTCTTTGTAAACC	0.353000													12	46					0	0	0.002450	0	0
LSG1	55341	broad.mit.edu	37	3	194373738	194373738	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:194373738G>A	ENST00000265245.5	-	8	1207	c.893C>T	c.(892-894)cCc>cTc	p.P298L		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	298					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ATCCGTTGTGGGATTTTCACT	0.498000													13	51					0	0	0.001368	0	0
FLRT1	23769	broad.mit.edu	37	11	63885183	63885183	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr11:63885183G>A	ENST00000246841.3	+	2	2487	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	454	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CTCCATCACGGAGACCTTGGT	0.627000													12	42					0	0	0.001855	0	0
FAM73A	374986	broad.mit.edu	37	1	78249030	78249030	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:78249030C>T	ENST00000370791.3	+	2	221	c.189C>T	c.(187-189)ctC>ctT	p.L63L	FAM73A_ENST00000443751.2_Intron	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	63						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		ACTATTCTCTCTCCCAGGTAA	0.363000													6	37					0	0	0.001168	0	0
RTL1	388015	broad.mit.edu	37	14	101348394	101348394	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr14:101348394G>A	ENST00000534062.1	-	1	2790	c.2732C>T	c.(2731-2733)tCc>tTc	p.S911F		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	911										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTCGATAGGGGAGATGTTGCG	0.592000													7	14					0	0	0.001984	0	0
TYW5	129450	broad.mit.edu	37	2	200801132	200801132	+	Silent	SNP	T	T	C			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:200801132T>C	ENST00000354611.4	-	6	835	c.570A>G	c.(568-570)ttA>ttG	p.L190L	C2orf69_ENST00000491721.1_Intron|TYW5_ENST00000452512.2_5'UTR	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN	tRNA-yW synthesizing protein 5	190	JmjC.				wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						CCATACCTTTTAAATATAAAT	0.308000													33	71					0	0	0.004289	0	0
CABLES2	81928	broad.mit.edu	37	20	60971643	60971643	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr20:60971643C>T	ENST00000279101.5	-	2	376	c.368G>A	c.(367-369)cGa>cAa	p.R123Q		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	123					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGACGTGACTCGCTTCCTGCA	0.647000													4	11					0	0	0.000248	0	0
MUC16	94025	broad.mit.edu	37	19	9084244	9084244	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr19:9084244G>A	ENST00000397910.4	-	1	7774	c.7571C>T	c.(7570-7572)cCt>cTt	p.P2524L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2524	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTCCTGCAGGACTTGTCTT	0.512000													11	36					0	0	0.000978	0	0
DIAPH3	81624	broad.mit.edu	37	13	60240757	60240757	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr13:60240757G>A	ENST00000400324.4	-	28	3763	c.3543C>T	c.(3541-3543)ccC>ccT	p.P1181P	DIAPH3_ENST00000400319.1_Silent_p.P1111P|DIAPH3_ENST00000377908.2_Silent_p.P1170P|DIAPH3_ENST00000400330.1_Silent_p.P1181P|DIAPH3_ENST00000400320.1_Silent_p.P1135P	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1181					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTTCAACTTCGGGAACTGATT	0.363000													10	38					0	0	0.000443	0	0
MYH2	4620	broad.mit.edu	37	17	10432356	10432356	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr17:10432356C>T	ENST00000245503.5	-	27	3779	c.3395G>A	c.(3394-3396)cGg>cAg	p.R1132Q	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1132Q|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1132					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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						CCGGGAGGCCCGCTCTGCCTC	0.602000													20	57					0	0	0.002299	0	0
CAPN2	824	broad.mit.edu	37	1	223905501	223905501	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:223905501C>T	ENST00000295006.5	+	2	584	c.275C>T	c.(274-276)gCc>gTc	p.A92V	CAPN2_ENST00000433674.2_Missense_Mutation_p.A14V	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	92	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		ATTGGAGGAGCCACCCGCACA	0.557000													6	49					0	0	0.001984	0	0
SEMA4D	10507	broad.mit.edu	37	9	91994420	91994420	+	Silent	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:91994420G>A	ENST00000450295.1	-	16	2564	c.1788C>T	c.(1786-1788)gcC>gcT	p.A596A	SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000422704.2_Silent_p.A596A|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.A596A|SEMA4D_ENST00000356444.2_Silent_p.A596A			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	596	Ig-like C2-type.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGGGGCTCTCGGCCTTCAACA	0.517000													59	200					0	0	0.003610	0	0
VPS13D	55187	broad.mit.edu	37	1	12445374	12445374	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr1:12445374C>T	ENST00000358136.3	+	59	11556	c.11426C>T	c.(11425-11427)cCt>cTt	p.P3809L	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.P3784L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3808					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GATGAACTTCCTGTCACCGAA	0.373000													8	23					0	0	0.004482	0	0
ABCB11	8647	broad.mit.edu	37	2	169842630	169842630	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:169842630G>A	ENST00000263817.6	-	10	1197	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	358	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTGGACAAGGGTTCCTGGTGT	0.428000													5	8					0	0	0.003080	0	0
ACTR3	10096	broad.mit.edu	37	2	114691884	114691884	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr2:114691884C>T	ENST00000263238.2	+	6	781	c.461C>T	c.(460-462)aCc>aTc	p.T154I	ACTR3_ENST00000536059.1_Missense_Mutation_p.T92I|ACTR3_ENST00000535589.2_Missense_Mutation_p.T103I	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	154					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						GCATCTTGGACCTCAAGACAA	0.393000													42	192					0	0	0.002852	0	0
OR2A7	401427	broad.mit.edu	37	7	143956659	143956659	+	Silent	SNP	C	C	T			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr7:143956659C>T	ENST00000493325.1	-	1	156	c.63G>A	c.(61-63)agG>agA	p.R21R	RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					GCATCTGAATCCTTGGGCCAA	0.512000													23	170					0	0	0.001271	0	0
PLXND1	23129	broad.mit.edu	37	3	129289979	129289987	+	In_Frame_Del	DEL	GAACCTGCT	GAACCTGCT	-			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr3:129289979_129289987delGAACCTGCT	ENST00000393239.1	-	18	3674_3682	c.3496_3504delAGCAGGTTC	c.(3496-3504)del	p.SRF1166del	PLXND1_ENST00000324093.4_In_Frame_Del_p.SRF1166del			Q9Y4D7	PLXD1_HUMAN	plexin D1	1166					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGTCCAGGCGGAACCTGCTGCCCCGCTGT	0.632													17	154	---	---	---	---					
TSC1	7248	broad.mit.edu	37	9	135785946	135785957	+	Splice_Site	DEL	GCTGGATCGCAC	GCTGGATCGCAC	-			TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr9:135785946_135785957delGCTGGATCGCAC	ENST00000298552.3	-	12	1485		c.e12+1		TSC1_ENST00000545250.1_Splice_Site|TSC1_ENST00000440111.2_Splice_Site	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1						activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TAGCAGACGAGCTGGATCGCACCTTCCTGGGG	0.547			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				13	96	---	---	---	---					
MIR3648-1	100500862	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs3052281		TCGA-D3-A1QB-06A-11D-A19A-08	TCGA-D3-A1QB-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9dbe674-e1e0-4f85-864f-dbd853e80d8f	b3383fec-2d55-4893-bf39-4625762ff91d	g.chr21:9825838_9825839insGCG	ENST00000581792.1	+	0	7_8					NR_037421.1																						cggccgcgactgcggcggcggt	0.842													3	4	---	---	---	---					
