Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EFCAB5_chr17_29936634_30113452	30036257	TACATATA others(53): Show TACATATATAATATATAATTATATATAATACACATATATAATATATAATT ATATATAATAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp2 HG01516.hp1 others(32): Show HG00741.hp1 HG01243.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0003 a0004 a0005 others(3): Show a0003 a0004 a0005 a0007 a0008 a0014	a0003c0003 a0003c0006 a0003c0013 others(6): Show a0003c0003 a0003c0006 a0003c0013 a0003c0014 a0004c0004 a0005c0007 a0007c0009 a0008c0011 a0014c0021	a0003c0003t0002 a0003c0006t0002 a0003c0013t0002 others(6): Show a0003c0003t0002 a0003c0006t0002 a0003c0013t0002 a0003c0014t0002 a0004c0004t0002 a0005c0007t0002 a0007c0009t0002 a0008c0011t0002 a0014c0021t0002	a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0136 others(32): Show a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0136 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0140 a0003c0003t0002g0141 a0003c0003t0002g0142 a0003c0003t0002g0143 a0003c0003t0002g0144 a0003c0003t0002g0145 a0003c0003t0002g0213 a0003c0003t0002g0214 a0003c0003t0002g0215 a0003c0003t0002g0216 a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 a0003c0013t0002g0217 a0003c0014t0002g0006 a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 a0004c0004t0002g0099 a0004c0004t0002g0104 a0004c0004t0002g0105 a0005c0007t0002g0129 a0005c0007t0002g0130 a0005c0007t0002g0131 a0007c0009t0002g0100 a0007c0009t0002g0101 a0007c0009t0002g0102 a0008c0011t0002g0020 a0008c0011t0002g0021 a0014c0021t0002g0012	35	248	0.1411	-60	c.120 others(79): Show c.1200+1959_1200+2018delATACACATATATAATATATAATTATA TATAATACACATATATAATATATAATTATATATA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EHMT1_chr9_137614005_137841127	137627500	GGTGATTT others(53): Show GGTGATTTGCCCACCTCAGCCTCCCAAAATGCTGGGATGACAGGCGTGAG CCGCTGCGCCC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02109.hp1 others(10): Show HG01884.hp1 HG01891.hp2 HG02109.hp1 HG02486.hp2 HG02602.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03098.hp1 HG03579.hp1 HG03834.hp2 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0020	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0009t0001 a0001c0020t0003	a0001c0001t0001g0140 a0001c0002t0001g0141 a0001c0003t0001g0057 others(10): Show a0001c0001t0001g0140 a0001c0002t0001g0141 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0004t0001g0139 a0001c0004t0001g0166 a0001c0006t0001g0146 a0001c0006t0001g0147 a0001c0006t0001g0148 a0001c0009t0001g0061 a0001c0020t0003g0149	13	170	0.0765	-60	c.21+ others(75): Show c.21+8505_21+8564delTGCGCCCGTGATTTGCCCACCTCAGCCTCC CAAAATGCTGGGATGACAGGCGTGAGCCGC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF3B_chr7_2349827_2385745	2378309	CGAGCGTT others(53): Show CGAGCGTTCCTGGGATGCTGTGTTGTGTGAATGACCCTTGGTGTCATGGA GGAAGGAACAG	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0251 a0002c0002t0001g0251	1	384	0.0026	-60	c.215 others(77): Show c.2155-378_2155-319delAGCGTTCCTGGGATGCTGTGTTGTGTGA ATGACCCTTGGTGTCATGGAGGAAGGAACAGG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF4A1_chr17_7567825_7584006	7571852	TATATATA others(53): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	436	0.0023	-60	c.-98 others(69): Show c.-989_-930delATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATAAAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		972		chr17	TogoVar
ELOVL5_chr6_53262404_53353950	53306301	GGAGAGGG others(53): Show GGAGAGGGGAGAGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGA GAGGGGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	320	0.0031	-60	c.-8- others(77): Show c.-8-10654_-8-10595delTCTCTCCCCTCTCCCTCTCCCCTCTCCC CTCTCCCCTCTCCCCTCTCCCTCTCCCCTCTC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL7_chr5_60746791_60849269	60819074	GGGAGGGG others(53): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG00673.hp2 others(26): Show HG00408.hp1 HG00673.hp1 HG00673.hp2 HG01167.hp1 HG01192.hp1 HG01361.hp2 HG01433.hp1 HG01975.hp1 HG02109.hp2 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03491.hp2 HG03579.hp2 HG03942.hp1 NA18522.hp2 NA18950.hp2 NA18951.hp1 NA18959.hp1 NA18959.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18978.hp2 NA18999.hp2 NA19058.hp2 NA19064.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021	a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0082 others(26): Show a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0200 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0054 a0001c0001t0002g0103 a0001c0001t0002g0183 a0001c0001t0003g0149 a0001c0001t0003g0171 a0001c0001t0003g0175 a0001c0001t0003g0184 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0201 a0001c0001t0004g0090 a0001c0001t0006g0081 a0001c0001t0011g0202 a0001c0001t0012g0243 a0001c0001t0012g0244 a0001c0001t0021g0196	29	258	0.1124	-60	c.-85 others(79): Show c.-85-19904_-85-19845delTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
EML5_chr14_88607431_88797953	88796576	GTTATATA others(53): Show GTTATATATAATATATATTATATGTTATATATGTTATACATATTATATGT TATATGTTATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG02735.hp2 others(1): Show HG01884.hp1 HG02615.hp1 HG02735.hp2 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0017 a0001c0003t0018 a0002c0002t0003 a0001c0001t0017 a0001c0003t0018 a0002c0002t0003	a0001c0001t0017g0010 a0001c0003t0018g0016 a0002c0002t0003g0029 others(1): Show a0001c0001t0017g0010 a0001c0003t0018g0016 a0002c0002t0003g0029 a0002c0002t0003g0094	4	332	0.0121	-60	c.-41 others(71): Show c.-4133_-4074delTATAACATATAACATATAATATGTATAACATATA TAACATATAATATATATTATATATAA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3624		chr14	TogoVar
ENOSF1_chr18_665318_717630	666915	TGATGGAG others(53): Show TGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAG ATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0236 a0001c0001t0020g0236	1	418	0.0024	-60	c.73 others(71): Show c.7330_*7389delTCCATCACCATCTCCATCTCCATCACCATCACCA TCTCCATCACCATCACCATCTCCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3402		chr18	TogoVar
ENOSF1_chr18_665318_717630	666993	TGATGGAG others(53): Show TGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGTG ATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0182 a0002c0002t0021g0182	1	418	0.0024	-60	c.72 others(71): Show c.7252_*7311delTCCATCACCATCACCATCTCCATCACCATCTCCA TCTCCATCACCATCACCATCTCCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3324		chr18	TogoVar
ENOSF1_chr18_665318_717630	667041	TGATGGTG others(53): Show TGATGGTGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTG ATGGAGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0379 a0003c0007t0002g0379	1	418	0.0024	-60	c.72 others(71): Show c.7204_*7263delTCCATCTCCATCACCATCACCATCTCCATCACCA TCACCATCTCCATCTCCATCACCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3276		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43470271	CACATATA others(53): Show CACATATATATACATATATATATACACATATATATACATATATATACACA TATATATATGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0177 a0001c0001t0038g0177	1	188	0.0053	-60	c.-75 others(79): Show c.-75+13678_-75+13737delACATATATATATGTGTATATATATGT ATATATATGTGTATATATATATGTATATATATGT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
EOGT_chr3_68970225_69018684	69016825	GTTGGTGG others(53): Show GTTGGTGGCAATATTGGTATTATGGGATACACCAAGTTGAAGTAATTATG ATGGTACCTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0031 a0001c0002t0037g0031	1	444	0.0023	-60	c.-36 others(71): Show c.-3667_-3608delAAAGGTACCATCATAATTACTTCAACTTGGTGTA TCCCATAATACCAATATTGCCACCAA	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding		3142		chr3	TogoVar
EPHA3_chr3_89102621_89487134	89211725	TTTCTTCT others(53): Show TTTCTTCTTCTTCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0180 a0002c0002t0004g0180	1	200	0.0050	-60	c.814 others(77): Show c.814+1222_814+1281delCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	96939936	GTTCTAGT others(53): Show GTTCTAGTTTGATTGCACTGTGGTCTGAGAGACAGTTTGTTATAATTTGT GTTGTTTTACA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0045 a0001c0001t0014g0045	1	82	0.0122	-60	c.451 others(79): Show c.451-47391_451-47332delCTAGTTTGATTGCACTGTGGTCTGAG AGACAGTTTGTTATAATTTGTGTTGTTTTACATT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ERC1_chr12_986223_1500931	1122247	ATCTCTAT others(53): Show ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTAT CTCTATCTGTG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02451.hp1 HG02717.hp2 HG00639.hp2 HG02451.hp1 HG02717.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0010 a0002c0002 a0005c0010	a0002c0002t0131 a0002c0002t0136 a0005c0010t0082 a0002c0002t0131 a0002c0002t0136 a0005c0010t0082	a0002c0002t0131g0065 a0002c0002t0136g0100 a0005c0010t0082g0126 a0002c0002t0131g0065 a0002c0002t0136g0100 a0005c0010t0082g0126	3	162	0.0185	-60	c.156 others(79): Show c.1569+6242_1569+6301delGTGTCTCTATCTCTATCTCTATCTCT ATCTGTGTCTCTATCTCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERFL_chr19_41902704_41933449	41914574	CGTCTCTC others(53): Show CGTCTCTCCCTCCCTTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCA TCTCTGTCTCT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0122 a0001c0002t0002g0122	1	330	0.0030	-60	c.-13 others(77): Show c.-13-1702_-13-1643delAGAGACAGAGATGGTGGAAGGGGAGGGA GAGACAGAGATGGTGGAAAGGGAGGGAGAGAC	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERICH1_chr8_659200_736224	696060	CCTGTGCT others(53): Show CCTGTGCTGGCTCCTCTCACCCTCCCTTCCTCTCCCTCCTCCCCATCAGC CTGCACCTGTG	C C	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	378	0.0027	-60	c.170 others(77): Show c.170-3508_170-3449delCACAGGTGCAGGCTGATGGGGAGGAGGG AGAGGAAGGGAGGGTGAGAGGAGCCAGCACAG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073432	CTATATAT others(53): Show CTATATATATATATATATATATATATATGTATATATATATATATATATAT ATATGTATATA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02055.hp2 HG02155.hp2 others(1): Show HG00558.hp2 HG02055.hp2 HG02155.hp2 NA18962.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0004 a0001c0001t0001 a0001c0001t0002 a0003c0003t0004	a0001c0001t0001g0208 a0001c0001t0002g0292 a0001c0001t0002g0319 others(1): Show a0001c0001t0001g0208 a0001c0001t0002g0292 a0001c0001t0002g0319 a0003c0003t0004g0364	4	442	0.0091	-60	c.58+ others(75): Show c.58+8729_58+8788delATATGTATATATATATATATATATATATAT GTATATATATATATATATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073456	ATATGTAT others(53): Show ATATGTATATATATATATATATATATATATGTATATATATATATATATAT ATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01891.hp1 HG02015.hp1 others(12): Show HG01069.hp1 HG01891.hp1 HG02015.hp1 HG02293.hp2 HG02630.hp1 HG02970.hp2 HG03834.hp1 HG03834.hp2 NA18939.hp1 NA18964.hp1 NA19003.hp2 NA19060.hp2 NA19065.hp2 NA19082.hp2 NA19087.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0006c0006t0001	a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0089 others(12): Show a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0300 a0001c0001t0001g0311 a0001c0001t0001g0396 a0001c0001t0002g0029 a0001c0001t0002g0236 a0001c0001t0002g0304 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0391 a0001c0001t0002g0392 a0002c0002t0001g0035 a0006c0006t0001g0301	15	442	0.0339	-60	c.58+ others(75): Show c.58+8733_58+8792delGTATATATATATATATATATATATATGTAT ATATATATATATATATATATATATATGTAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ETNPPL_chr4_108737053_108768053	108747134	ATATATAT others(53): Show ATATATATATATATAATATATATATATATATTATATATATATATATAATA TATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00609.hp1 others(98): Show HG00099.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03130.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 NA18747.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18959.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp1 NA19005.hp2 NA19010.hp1 NA19054.hp1 NA19056.hp1 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19075.hp2 NA19079.hp1 NA19080.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0005 a0008c0007 a0001c0001 a0003c0005 a0008c0007	a0001c0001t0001 a0001c0001t0003 a0003c0005t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0003c0005t0007 a0003c0005t0008 a0008c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(82): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0320 a0001c0001t0003g0229 a0001c0001t0003g0243 a0001c0001t0003g0251 a0003c0005t0007g0117 a0003c0005t0008g0115 a0008c0007t0001g0105	101	378	0.2672	-60	c.108 others(77): Show c.1083-343_1083-284delATATATATATATATTATATATATATATA TAATATATATATATATATTATATATATATATA	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	9/12			chr4	TogoVar
ETS1_chr11_128453765_128592558	128585076	GAGAAAGA others(53): Show GAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAGGAAGGAAGGAAAGAAAGA AGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02055.hp1 HG02109.hp1 others(5): Show HG01515.hp1 HG02055.hp1 HG02109.hp1 HG02723.hp2 HG03669.hp1 NA19240.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0003t0004 a0001c0005t0006	a0001c0001t0001g0172 a0001c0001t0004g0168 a0001c0001t0005g0181 others(5): Show a0001c0001t0001g0172 a0001c0001t0004g0168 a0001c0001t0005g0181 a0001c0002t0001g0169 a0001c0002t0002g0179 a0001c0002t0007g0232 a0001c0003t0004g0162 a0001c0005t0006g0132	8	286	0.0280	-60	c.-15 others(77): Show c.-15+2352_-15+2411delTCTTTCTTTCTTCTTTCTTTCCTTCCTT CCTTCCTTTCTTTCTTTCCTTTCTTTCTTTCT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
EXOC6B_chr2_72170984_72831033	72512314	CGGAAGGA others(53): Show CGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAAGAAGGAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG03130.hp2 HG02559.hp2 HG02622.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0018 a0001c0001t0002 a0001c0001t0007 a0001c0001t0018	a0001c0001t0002g0062 a0001c0001t0007g0060 a0001c0001t0018g0063 a0001c0001t0002g0062 a0001c0001t0007g0060 a0001c0001t0018g0063	3	104	0.0289	-60	c.116 others(77): Show c.1167+758_1167+817delTTCCTTCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	11/21			chr2	TogoVar
EYS_chr6_63714980_65712226	65317825	CCTTTCTT others(53): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02809.hp2 others(3): Show HG02622.hp2 HG02630.hp2 HG02809.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0016 a0017 a0019	a0001c0012 a0002c0021 a0006c0022 others(3): Show a0001c0012 a0002c0021 a0006c0022 a0016c0014 a0017c0013 a0019c0023	a0001c0012t0002 a0002c0021t0001 a0006c0022t0001 others(3): Show a0001c0012t0002 a0002c0021t0001 a0006c0022t0001 a0016c0014t0001 a0017c0013t0001 a0019c0023t0001	a0001c0012t0002g0021 a0002c0021t0001g0008 a0006c0022t0001g0011 others(3): Show a0001c0012t0002g0021 a0002c0021t0001g0008 a0006c0022t0001g0011 a0016c0014t0001g0005 a0017c0013t0001g0017 a0019c0023t0001g0010	6	24	0.2500	-60	c.176 others(81): Show c.1766+17095_1766+17154delAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	11/42			chr6	TogoVar
EZR_chr6_158760748_158824368	158803527	TTATATAT others(53): Show TTATATATATATATATATGTATATATATATATATATATATATATATATAT ATATACATATA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0018 a0001c0001t0015g0018	1	312	0.0032	-60	c.13- others(77): Show c.13-14216_13-14157delTATATGTATATATATATATATATATATA TATATATATATATACATATATATATATATATA	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
FAAH2_chrX_57281706_57494193	57352037	CATATATA others(53): Show CATATATATATGTGTATATATATATATATACACATATATATATGTGTATA TATATGCACAT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	282	0.0036	-60	c.742 others(79): Show c.742+10670_742+10729delATATATACACATATATATATGTGTAT ATATATGCACATATATATATATGTGTATATATAT	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAM120B_chr6_170301758_170412067	170361182	CTATATAT others(53): Show CTATATATATATACGTGTATATATATATATATATATATATATATATATAT ATATACACGTA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0005g0217 a0001c0001t0005g0218	2	289	0.0069	-60	c.228 others(79): Show c.2283+2891_2283+2950delTATATATATATATATATATATATATA TACACGTATATATATATATACGTGTATATATATA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM174B_chr15_92612448_92660775	92631276	TATATAAT others(53): Show TATATAATATATTATATATTATATATAATATATTATATATAATATTATAT ATAATATATTA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0054 a0001c0001t0009g0054	1	394	0.0025	-60	c.345 others(75): Show c.345-991_345-932delTAATATATTATATATAATATTATATATAAT ATATTATATATAATATATAATATATTATAT	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM20A_chr17_68530116_68606367	68571939	AATATATA others(53): Show AATATATATATGTGTGTGTGTGTATATATATGTGTGTGTATATACATACA TATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG03239.hp2 others(7): Show HG00408.hp1 HG00673.hp1 HG03239.hp2 HG03831.hp2 NA18950.hp1 NA18989.hp1 NA18997.hp2 NA19062.hp1 NA19068.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0008 a0001c0004 a0002c0008	a0001c0004t0002 a0001c0004t0004 a0002c0008t0001 a0001c0004t0002 a0001c0004t0004 a0002c0008t0001	a0001c0004t0002g0024 a0001c0004t0002g0029 a0001c0004t0002g0054 others(7): Show a0001c0004t0002g0024 a0001c0004t0002g0029 a0001c0004t0002g0054 a0001c0004t0002g0056 a0001c0004t0004g0017 a0001c0004t0004g0022 a0001c0004t0004g0023 a0002c0008t0001g0028 a0002c0008t0001g0037 a0002c0008t0001g0040	10	380	0.0263	-60	c.405 others(79): Show c.405-16256_405-16197delATATATATATATGTATGTATATACAC ACACATATATATACACACACACACATATATATAT	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10			chr17	TogoVar
FAM227B_chr15_49321970_49625818	49489827	TATATATA others(53): Show TATATATATATATTTTATATATATATATATATTTTATATATATATATATA TATATATAGAG	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	294	0.0034	-60	c.101 others(81): Show c.1012+18324_1012+18383delCTCTATATATATATATATATATAT ATAAAATATATATATATATATAAAATATATATATAT	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM78B_chr1_166064299_166172001	166109830	ATGTATAT others(53): Show ATGTATATATGTATATATATATATATATATATGTATGTGTATATATATAT ATGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02615.hp2 NA18968.hp2 HG00597.hp2 HG02615.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0040 a0001c0001t0001g0243 a0001c0001t0001g0244	3	318	0.0094	-60	c.264 others(79): Show c.264-39127_264-39068delCATATATACATATATATATATACACA TACATATATATATATATATATATACATATATACA	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM9B_chrX_9019232_9039127	9021333	TTATATTA others(53): Show TTATATTATATATATTATATATAATATATTATATTATATATATTATATAT AATATATTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	258	0.0039	-60	c.40 others(71): Show c.4016_*4075delTATAATATATTATATATAATATATATAATATAAT ATATTATATATAATATATATAATATA	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		2898		chrX	TogoVar
FAT1_chr4_186582794_186728856	186659640	CCTGGGCG others(53): Show CCTGGGCGCTCCTGCACTCTACACACACAAGCCGGCTGTGGCACCTGTCC CCTGAACGACG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0035 a0005c0011t0035	a0005c0011t0035g0324 a0005c0011t0035g0324	1	338	0.0030	-60	c.358 others(79): Show c.3580+3599_3580+3658delCGTCGTTCAGGGGACAGGTGCCACAG CCGGCTTGTGTGTGTAGAGTGCAGGAGCGCCCAG	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	3/26			chr4	TogoVar
FAT1_chr4_186582794_186728856	186659790	TCCGGCTG others(53): Show TCCGGCTGTGGCACCTGTCCCCTGAACGACCCTGGGTGCTCCTGCACTCT ACACACACAAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00099.hp1 HG00140.hp2	a0011 a0022 a0011 a0022	a0011c0008 a0022c0017 a0011c0008 a0022c0017	a0011c0008t0002 a0022c0017t0010 a0011c0008t0002 a0022c0017t0010	a0011c0008t0002g0174 a0022c0017t0010g0186 a0011c0008t0002g0174 a0022c0017t0010g0186	2	338	0.0059	-60	c.358 others(79): Show c.3580+3449_3580+3508delCTTGTGTGTGTAGAGTGCAGGAGCAC CCAGGGTCGTTCAGGGGACAGGTGCCACAGCCGG	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	3/26			chr4	TogoVar
FBN1_chr15_48403313_48650709	48453290	CAAACAAA others(53): Show CAAACAAAAAAAAAACACACACAAAAAAAAAGGAAAAAAAAAGGAAAAAG AAAAAGAAGAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG02155.hp2 others(25): Show HG00408.hp2 HG00544.hp1 HG02155.hp2 HG02523.hp2 HG02738.hp1 HG03579.hp1 HG03654.hp1 HG03831.hp1 HG03834.hp1 NA18946.hp2 NA18954.hp2 NA18960.hp2 NA18975.hp1 NA18982.hp2 NA18992.hp1 NA18993.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19012.hp2 NA19060.hp1 NA19072.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA19084.hp2 NA19088.hp1 NA20805.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0016 a0001c0004t0022 a0001c0004t0004 a0001c0004t0016 a0001c0004t0022	a0001c0004t0004g0017 a0001c0004t0004g0048 a0001c0004t0004g0049 others(25): Show a0001c0004t0004g0017 a0001c0004t0004g0048 a0001c0004t0004g0049 a0001c0004t0004g0052 a0001c0004t0004g0053 a0001c0004t0004g0054 a0001c0004t0004g0055 a0001c0004t0004g0056 a0001c0004t0004g0057 a0001c0004t0004g0058 a0001c0004t0004g0059 a0001c0004t0004g0060 a0001c0004t0004g0061 a0001c0004t0004g0062 a0001c0004t0004g0063 a0001c0004t0004g0064 a0001c0004t0004g0065 a0001c0004t0004g0066 a0001c0004t0004g0067 a0001c0004t0004g0068 a0001c0004t0004g0069 a0001c0004t0004g0083 a0001c0004t0004g0105 a0001c0004t0004g0137 a0001c0004t0004g0140 a0001c0004t0004g0287 a0001c0004t0016g0050 a0001c0004t0022g0139	28	288	0.0972	-60	c.542 others(77): Show c.5423-666_5423-607delTTCTTCTTTTTCTTTTTCCTTTTTTTTT CCTTTTTTTTTGTGTGTGTTTTTTTTTTGTTT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	44/65			chr15	TogoVar
FBN3_chr19_8060402_8154592	8150803	CACAATTT others(53): Show CACAATTTGCAGGGAGGGAGAGGATTTTGTTTATGTTTTGTTTTGTTTGT TTTTTGAGACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0138 a0005c0004t0002g0138	1	380	0.0026	-60	c.-14 others(71): Show c.-1432_-1373delTGTCTCAAAAAACAAACAAAACAAAACATAAACA AAATCCTCTCCCTCCCTGCAAATTGT	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding		1212		chr19	TogoVar
FBRSL1_chr12_132485151_132590188	132587919	GGGAGCAC others(53): Show GGGAGCACCCTCCTGGGAGCACTCTGTGAGGGAGCACCCTCCTGGGAGCA CTCTGTGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0041 a0007c0010t0041	a0007c0010t0041g0330 a0007c0010t0041g0330	1	348	0.0029	-60	c.41 others(71): Show c.4142_*4201delGGAGCACCCTCCTGGGAGCACTCTGTGAGGGAGC ACCCTCCTGGGAGCACTCTGTGAGGA	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding		2732		chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132587938	CACTCTGT others(53): Show CACTCTGTGAGGGAGCACCCTCCTGGGAGCACTCTGTGAGGAGGGGCACC TTCCTGGGAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0000 a0000	a0000c0023 a0000c0023	a0000c0023t0002 a0000c0023t0002	a0000c0023t0002g0296 a0000c0023t0002g0296	1	348	0.0029	-60	c.41 others(71): Show c.4161_*4220delACTCTGTGAGGGAGCACCCTCCTGGGAGCACTCT GTGAGGAGGGGCACCTTCCTGGGAGT	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding		2751		chr12	TogoVar
FER_chr5_108742897_109201841	108844994	GTGTATAT others(53): Show GTGTATATATATATATATATATATATATATATATATATATATATATACAT ATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	138	0.0073	-60	c.481 others(77): Show c.481+9189_481+9248delGTATATATATATATATATATATATATAT ATATATATATATATATACATATATATATATAT	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FEZ1_chr11_125437881_125501265	125457440	ATATATAT others(53): Show ATATATATATATGTATATATACACATATATATGTATATATACACATATAT GTGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0324 a0001c0001t0003g0324	1	356	0.0028	-60	c.668 others(77): Show c.668-1394_668-1335delCATATATACACATATATGTGTATATATA CATATATATGTGTATATATACATATATATATA	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	5/9			chr11	TogoVar
FEZ1_chr11_125437881_125501265	125493389	AGAAAGAA others(53): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAGGAAAG AAGGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	356	0.0028	-60	c.-46 others(77): Show c.-46+2672_-46+2731delCTTCTTTCCTTCTTTCCTTCTTTCCTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	1/9			chr11	TogoVar
FEZ1_chr11_125437881_125501265	125493449	GGAAAGAA others(53): Show GGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAAG AAAGAAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	356	0.0028	-60	c.-46 others(77): Show c.-46+2612_-46+2671delTCTCTTTCTTTCTTTCTTTCCTTCTTTC CTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTC	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	1/9			chr11	TogoVar
FGF7_chr15_49418242_49493775	49489827	TATATATA others(53): Show TATATATATATATTTTATATATATATATATATTTTATATATATATATATA TATATATAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	358	0.0028	-60	c.53 others(71): Show c.5324_*5383delATATATATATATTTTATATATATATATATATTTT ATATATATATATATATATATATAGAG	FGF7	ENSG00000140285.12	transcript	ENST00000267843.9	protein_coding		1053		chr15	TogoVar
FHIT_chr3_59742277_61256452	59806665	TATATATG others(53): Show TATATATGTGTATATATATGTATATACATATGTATATATGTGTATATACA TATGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00735.hp1 others(30): Show HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01981.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03225.hp1 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0003t0003 a0001c0003t0004	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0002g0002 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0037 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0003g0005 a0001c0001t0003g0026 a0001c0001t0004g0011 a0001c0001t0004g0043 a0001c0001t0005g0028 a0001c0001t0007g0008 a0001c0001t0009g0040 a0001c0001t0010g0018 a0001c0001t0011g0004 a0001c0001t0013g0003 a0001c0001t0014g0017 a0001c0001t0015g0010 a0001c0002t0001g0031 a0001c0002t0002g0032 a0001c0002t0004g0033 a0001c0002t0005g0044 a0001c0003t0003g0024 a0001c0003t0004g0038	33	46	0.7174	-60	c.349 others(79): Show c.349-54404_349-54345delGTATATACATATGTATATACACATAT ATACATATGTATATACATATATATACACATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	8/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	59806672	GTGTATAT others(53): Show GTGTATATATATGTATATACATATGTATATATGTGTATATACATATGTAT ATACATATATA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG06807.hp1 HG06807.hp2 others(1): Show HG02145.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0003g0016 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0003g0016 a0001c0001t0012g0022	4	46	0.0870	-60	c.349 others(79): Show c.349-54411_349-54352delTATATATGTATATACATATGTATATA CACATATATACATATGTATATACATATATATACA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	8/9			chr3	TogoVar
FIRRM_chr1_169790040_169859080	169850985	TTTTTTTT others(53): Show TTTTTTTTTTTTTTTTTTTTTTATTTGGGCAGCCTCCCAAGCCAGGGTAA GCTCAGGGCCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01081.hp2 others(8): Show HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01256.hp2 HG01978.hp1 HG02683.hp1 HG02723.hp1 HG02897.hp1 HG03831.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0003 a0001c0001t0003 a0003c0004t0003	a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0132 others(6): Show a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0132 a0001c0001t0003g0136 a0001c0001t0003g0141 a0001c0001t0003g0149 a0001c0001t0003g0151 a0003c0004t0003g0133 a0003c0004t0003g0369	11	420	0.0262	-60	c.224 others(77): Show c.2244+662_2244+721delATTTGGGCAGCCTCCCAAGCCAGGGTAA GCTCAGGGCCCTTTTTTTTTTTTTTTTTTTTT	FIRRM	ENSG00000000460.17	transcript	ENST00000359326.9	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
FLNB_chr3_58003422_58177251	58023107	CGGCCTTT others(53): Show CGGCCTTTTTTTTTTTTTTTTTTGAAATGATGTCTCCTTTTGTTGCCCAA ACTGCAGTCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0152 a0002c0012t0002g0152	1	180	0.0056	-60	c.292 others(79): Show c.292+14255_292+14314delCTTTTTTTTTTTTTTTTTTGAAATGA TGTCTCCTTTTGTTGCCCAAACTGCAGTCTTGGC	FLNB	ENSG00000136068.16	transcript	ENST00000295956.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr3	TogoVar
FLNB_chr3_58003422_58177251	58132983	CCATCCAT others(53): Show CCATCCATTCCTCCATCAGTCCATCCACCCATCCGTTCCTCCATCATTCC ATCCATCCACT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0126 a0002c0002t0002g0126	1	180	0.0056	-60	c.451 others(76): Show c.4514+79_4514+138delCCCATCCGTTCCTCCATCATTCCATCCAT CCACTCATCCATTCCTCCATCAGTCCATCCA	FLNB	ENSG00000136068.16	transcript	ENST00000295956.9	protein_coding	26/45		INFO_REALIGN_3_PRIME	chr3	TogoVar
FLT1_chr13_28295346_28500128	28473749	GGAAGGAA others(53): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	228	0.0044	-60	c.65- others(75): Show c.65-6192_65-6133delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	FLT1	ENSG00000102755.13	transcript	ENST00000282397.9	protein_coding	1/29			chr13	TogoVar
FLT4_chr5_180596506_180654600	180635091	TGGATGGA others(53): Show TGGATGGATGGATGGAAGTATGGGTGGAGGGGTGGGTGGATGGATGCATG GATGGATGGAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0361 a0001c0001t0020g0361	1	388	0.0026	-60	c.59- others(75): Show c.59-3373_59-3314delTTCCATCCATCCATGCATCCATCCACCCAC CCCTCCACCCATACTTCCATCCATCCATCC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180635238	GTGGATGG others(53): Show GTGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATGGAT GGATGGAAGTA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01516.hp1 HG00673.hp2 HG01516.hp1	a0002 a0010 a0002 a0010	a0002c0003 a0010c0021 a0002c0003 a0010c0021	a0002c0003t0003 a0010c0021t0001 a0002c0003t0003 a0010c0021t0001	a0002c0003t0003g0108 a0010c0021t0001g0326 a0002c0003t0003g0108 a0010c0021t0001g0326	2	388	0.0052	-60	c.59- others(75): Show c.59-3520_59-3461delTACTTCCATCCATCCATCCACCCACCCACC CATCCACCCATACTTCCATCCATCCATCCA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar

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