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
INPP5E_chr9_136423619_136444845	136431576	TTCCTCAT others(35): Show TTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	326	0.0031	-42	c.154 others(59): Show c.1549+206_1549+247delGAGGTGAGGGCCTGGGGGGGCGGGCGTG GAGGGAGATGAGGA	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
INPP5E_chr9_136423619_136444845	136431759	CGCCCGCC others(35): Show CGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCAT	C C	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0096	1	380	0.0026	-42	c.154 others(57): Show c.1549+23_1549+64delATGGAGGGAGATGAGGAGAGGTGAGGGCCT GGGGGGGCGGGC	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
INSC_chr11_15109923_15252208	15229971	TATATATA others(35): Show TATATATATTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0094 a0001c0001t0005g0094	1	263	0.0038	-42	c.117 others(61): Show c.1170+4152_1170+4193delTATATATATATATATATATATATATA TATATATAATATATAT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSR_chr19_7107265_7299414	7124564	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0110 a0001c0001t0004g0110	1	283	0.0035	-42	c.325 others(59): Show c.3258+677_3258+718delATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7124566	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 NA18955.hp2 HG01884.hp1 HG02486.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0081 a0001c0001t0117 a0001c0006t0075 a0001c0001t0081 a0001c0001t0117 a0001c0006t0075	a0001c0001t0081g0148 a0001c0001t0117g0257 a0001c0006t0075g0084 a0001c0001t0081g0148 a0001c0001t0117g0257 a0001c0006t0075g0084	3	289	0.0104	-42	c.325 others(59): Show c.3258+675_3258+716delATATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7124568	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0168 a0001c0018t0168	a0001c0018t0168g0298 a0001c0018t0168g0298	1	290	0.0034	-42	c.325 others(59): Show c.3258+673_3258+714delATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7124570	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0165 a0001c0029t0165	a0001c0029t0165g0297 a0001c0029t0165g0297	1	287	0.0035	-42	c.325 others(59): Show c.3258+671_3258+712delATATATATATATATATATATATATTTTT TTTTTTTTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7151149	CCTTTCTT others(35): Show CCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03834.hp1 NA18955.hp2 HG02486.hp2 HG03834.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0044 a0001c0001 a0001c0044	a0001c0001t0081 a0001c0001t0117 a0001c0044t0003 a0001c0001t0081 a0001c0001t0117 a0001c0044t0003	a0001c0001t0081g0148 a0001c0001t0117g0257 a0001c0044t0003g0274 a0001c0001t0081g0148 a0001c0001t0117g0257 a0001c0044t0003g0274	3	91	0.0330	-42	c.223 others(59): Show c.2232-659_2232-618delAAAGAAAGAAAGAAAGAAAGAAAGAAAG AGAAAGAAAGAAAG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	10/21			chr19	TogoVar
INTS11_chr1_1306600_1329660	1315752	GAGCGAGG others(35): Show GAGCGAGGGAGGTGGGGGCGGGGAGGGAGGGAGGGAGGCGGGC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01070.hp1 others(8): Show HG00733.hp1 HG01069.hp1 HG01070.hp1 HG02109.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG04228.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0010 a0001c0003t0001g0034 a0001c0003t0001g0035 others(6): Show a0001c0003t0001g0010 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0118 a0001c0003t0001g0122 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0130 a0001c0003t0004g0129	11	352	0.0313	-42	c.430 others(57): Show c.430-176_430-135delGCCCGCCTCCCTCCCTCCCTCCCCGCCCCC ACCTCCCTCGCT	INTS11	ENSG00000127054.22	transcript	ENST00000435064.6	protein_coding	4/16			chr1	TogoVar
INTS7_chr1_211935403_212040557	212015063	CGGCAGCC others(35): Show CGGCAGCCGCCCCATCCGGGAGGTGGGGGGCGGCCCCCGCCCG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01884.hp2 others(14): Show HG01069.hp2 HG01071.hp1 HG01884.hp2 HG02055.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03130.hp2 HG03225.hp1 HG03516.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0017 a0001c0002t0005 others(1): Show a0001c0001t0005 a0001c0001t0017 a0001c0002t0005 a0001c0002t0015	a0001c0001t0005g0001 a0001c0001t0005g0022 a0001c0001t0005g0023 others(8): Show a0001c0001t0005g0001 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0017g0025 a0001c0002t0005g0003 a0001c0002t0005g0028 a0001c0002t0005g0029 a0001c0002t0015g0030	17	350	0.0486	-42	c.509 others(59): Show c.509+1781_509+1822delCGGGCGGGGGCCGCCCCCCACCTCCCGG ATGGGGCGGCTGCC	INTS7	ENSG00000143493.13	transcript	ENST00000366994.8	protein_coding	4/19			chr1	TogoVar
IQANK1_chr8_143729139_143795645	143748642	TATAAATA others(35): Show TATAAATATATATCAATCATATATAAATATATAAATATATATC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01884.hp2 HG02486.hp2 others(17): Show HG00733.hp2 HG01884.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02723.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG04199.hp2 NA19043.hp2	a0003 a0007 a0008 others(6): Show a0003 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0028	a0003c0003 a0007c0007 a0008c0008 others(6): Show a0003c0003 a0007c0007 a0008c0008 a0009c0009 a0010c0011 a0012c0027 a0013c0013 a0014c0019 a0028c0032	a0003c0003t0001 a0007c0007t0001 a0008c0008t0001 others(6): Show a0003c0003t0001 a0007c0007t0001 a0008c0008t0001 a0009c0009t0001 a0010c0011t0001 a0012c0027t0001 a0013c0013t0001 a0014c0019t0001 a0028c0032t0001	a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0018 others(17): Show a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0018 a0003c0003t0001g0031 a0007c0007t0001g0015 a0007c0007t0001g0017 a0008c0008t0001g0032 a0009c0009t0001g0014 a0009c0009t0001g0022 a0009c0009t0001g0027 a0009c0009t0001g0029 a0009c0009t0001g0030 a0010c0011t0001g0011 a0012c0027t0001g0016 a0013c0013t0001g0019 a0013c0013t0001g0020 a0013c0013t0001g0026 a0014c0019t0001g0021 a0014c0019t0001g0025 a0028c0032t0001g0028	20	348	0.0575	-42	c.175 others(59): Show c.175+8698_175+8739delAATATATATCAATCATATATAAATATAT AAATATATATCATA	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQCA1_chr2_236319151_236512476	236336417	ACCACCAC others(35): Show ACCACCACCACTGCCACCACGGCCACCACCACTGCCACCACGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0009 a0002c0023t0009	a0002c0023t0009g0177 a0002c0023t0009g0177	1	98	0.0102	-42	c.213 others(61): Show c.2134+1746_2134+1787delCCGTGGTGGCAGTGGTGGTGGCCGTG GTGGCAGTGGTGGTGG	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	17/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236509568	CAGAAGTA others(35): Show CAGAAGTAGTGCAATACAGAAAATAAGTTGGAAAAACCAAGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	206	0.0049	-42	c.-23 others(53): Show c.-2343_-2302delTTCTTGGTTTTTCCAACTTATTTTCTGTATTGCA CTACTTCT	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding		2093		chr2	TogoVar
IQCB1_chr3_121764761_121840060	121784600	ATATTCAG others(35): Show ATATTCAGTGATACTTATCTTTCAGCTGATATTTAAGAGTGGG	A A	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0007 a0002c0008t0007	a0002c0008t0007g0241 a0002c0008t0007g0241	1	306	0.0033	-42	c.127 others(61): Show c.1279-2768_1279-2727delCCCACTCTTAAATATCAGCTGAAAGA TAAGTATCACTGAATA	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
IQGAP1_chr15_90383242_90507239	90422618	ATATATAT others(35): Show ATATATATGTATATATATATATGTATATGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02886.hp1 HG02922.hp2 others(2): Show HG01884.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 others(2): Show a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0245 a0001c0001t0001g0276	5	337	0.0148	-42	c.156 others(59): Show c.156-3484_156-3443delGTATATATATATATGTATATGTATATAT ATATATGTATATAT	IQGAP1	ENSG00000140575.13	transcript	ENST00000268182.10	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
IRX6_chr16_55319203_55335756	55324466	TACTTCTC others(35): Show TACTTCTCCCGGGTAATTTGGAGAGGTTGTGTGTGTGTGCGCG	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0116 a0001c0001t0015g0116	1	446	0.0022	-42	c.-62 others(51): Show c.-625_-584delACTTCTCCCGGGTAATTTGGAGAGGTTGTGTGTGTG TGCGCG	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/6	584		chr16	TogoVar
ITGA11_chr15_68291532_68437163	68397668	AATATTTA others(35): Show AATATTTAAAATATTATATTTAAAATATTATATTTAAAATATT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01433.hp1 HG02630.hp2 others(12): Show HG01074.hp2 HG01433.hp1 HG02630.hp2 HG02809.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18951.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0008 a0017 a0018	a0001c0001 a0001c0002 a0001c0005 others(9): Show a0001c0001 a0001c0002 a0001c0005 a0002c0043 a0002c0067 a0002c0080 a0003c0040 a0004c0052 a0005c0018 a0008c0020 a0017c0073 a0018c0064	a0001c0001t0001 a0001c0002t0001 a0001c0005t0005 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0005 a0001c0005t0035 a0002c0043t0013 a0002c0067t0051 a0002c0080t0002 a0003c0040t0042 a0004c0052t0006 a0005c0018t0046 a0008c0020t0017 a0017c0073t0013 a0018c0064t0009	a0001c0001t0001g0149 a0001c0002t0001g0081 a0001c0005t0005g0220 others(12): Show a0001c0001t0001g0149 a0001c0002t0001g0081 a0001c0005t0005g0220 a0001c0005t0005g0241 a0001c0005t0035g0226 a0002c0043t0013g0142 a0002c0067t0051g0120 a0002c0080t0002g0227 a0003c0040t0042g0019 a0004c0052t0006g0145 a0005c0018t0046g0031 a0008c0020t0017g0023 a0008c0020t0017g0161 a0017c0073t0013g0138 a0018c0064t0009g0223	15	156	0.0962	-42	c.164 others(59): Show c.164+5208_164+5249delAATATTTTAAATATAATATTTTAAATAT AATATTTTAAATAT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA9_chr3_37447141_37828507	37512109	CTTCCTTC others(35): Show CTTCCTTCCTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0046 a0001c0001t0008g0046	1	158	0.0063	-42	c.898 others(59): Show c.898-1650_898-1609delCTTCCTTCTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTC	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGAE_chr17_3709628_3806188	3796081	CTGTGTAT others(35): Show CTGTGTATGCATCCGTGTGTGTGCATCCCTGTGTGCATCCCTG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp1 HG02717.hp1 HG02896.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0039 a0004c0014t0001g0068 a0004c0014t0001g0039 a0004c0014t0001g0068	2	300	0.0067	-42	c.34+ others(57): Show c.34+4988_34+5029delCAGGGATGCACACAGGGATGCACACACACG GATGCATACACA	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	1/30			chr17	TogoVar
ITGAM_chr16_31254975_31337877	31272441	ATATATAT others(35): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp2 HG03453.hp2 HG02109.hp2 HG02965.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0150 a0001c0005t0004g0153 a0001c0005t0004g0162 a0001c0005t0004g0150 a0001c0005t0004g0153 a0001c0005t0004g0162	3	239	0.0126	-42	c.704 others(57): Show c.704+451_704+492delATATATATATATATATATATATTTTTTTTT TTTTTTTTTTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31272443	ATATATAT others(35): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02622.hp2 others(10): Show HG02109.hp1 HG02258.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03041.hp2 HG03486.hp1 NA20300.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0005 a0007c0012 a0001c0005 a0007c0012	a0001c0005t0004 a0007c0012t0004 a0001c0005t0004 a0007c0012t0004	a0001c0005t0004g0002 a0001c0005t0004g0152 a0001c0005t0004g0154 others(9): Show a0001c0005t0004g0002 a0001c0005t0004g0152 a0001c0005t0004g0154 a0001c0005t0004g0155 a0001c0005t0004g0157 a0001c0005t0004g0159 a0001c0005t0004g0160 a0001c0005t0004g0161 a0001c0005t0004g0163 a0001c0005t0004g0164 a0001c0005t0004g0242 a0007c0012t0004g0156	13	232	0.0560	-42	c.704 others(57): Show c.704+453_704+494delATATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31272445	ATATATAT others(35): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0158 a0001c0005t0004g0158	1	227	0.0044	-42	c.704 others(57): Show c.704+455_704+496delATATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31334536	TTCCTTCC others(35): Show TTCCTTCCTTCCTTCCTTCCTCCTTCCTTCCTTCCTTCCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG02630.hp2 others(1): Show HG00741.hp2 HG01106.hp2 HG02630.hp2 HG03491.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0110 a0002c0003t0003g0118 a0002c0003t0003g0119 others(1): Show a0002c0003t0003g0110 a0002c0003t0003g0118 a0002c0003t0003g0119 a0002c0003t0003g0120	4	242	0.0165	-42	c.28 others(53): Show c.2830_*2871delTCCTTCCTTCCTTCCTTCCTCCTTCCTTCCTTCC TTCCTTCC	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1660		chr16	TogoVar
ITGB2_chr21_44880953_44925899	44885503	GGCTGGAG others(35): Show GGCTGGAGAAGAGGTGTAGACGGCTGGAGGGGAGGTGTAGACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02886.hp2 HG03130.hp1 others(2): Show HG02559.hp2 HG02886.hp2 HG03130.hp1 HG03225.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0006t0001 a0001c0006t0002 others(2): Show a0001c0001t0001 a0001c0006t0001 a0001c0006t0002 a0001c0006t0004 a0001c0007t0010	a0001c0001t0001g0199 a0001c0006t0001g0415 a0001c0006t0002g0204 others(2): Show a0001c0001t0001g0199 a0001c0006t0001g0415 a0001c0006t0002g0204 a0001c0006t0004g0406 a0001c0007t0010g0197	5	442	0.0113	-42	c.82 others(51): Show c.823_*864delAGTCTACACCTCCCCTCCAGCCGTCTACACCTCTTC TCCAGC	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding		449		chr21	TogoVar
ITIH2_chr10_7698316_7754520	7737819	AATATTCT others(35): Show AATATTCTATATTATATTCTATATATTATATATTATATTCTAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG03017.hp2 others(1): Show HG01109.hp2 HG01175.hp2 HG03017.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0117 a0001c0001t0001g0118 others(1): Show a0001c0001t0001g0045 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0129	4	366	0.0109	-42	c.195 others(59): Show c.1958-796_1958-755delCTATATTATATTCTATATATTATATATT ATATTCTATATATT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH5_chr10_7554270_7671966	7556067	CATATATA others(35): Show CATATATATATATGTATATATATATATATATATGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0007 a0007c0011t0007	a0007c0011t0007g0083 a0007c0011t0007g0083	1	203	0.0049	-42	c.69 others(53): Show c.6974_*7015delACACACACACATATATATATATATATATACATAT ATATATAT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding		3202		chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566832	GGAAGAGG others(35): Show GGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0009 a0004c0007t0009	a0004c0007t0009g0312 a0004c0007t0009g0312	1	164	0.0061	-42	c.215 others(59): Show c.2150-467_2150-426delTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCCTCTTCCTCTTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITPRIP_chr10_104304700_104343465	104306028	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02965.hp1 HG01081.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0075 a0001c0001t0022g0079 a0001c0001t0022g0075 a0001c0001t0022g0079	2	322	0.0062	-42	c.83 others(53): Show c.8338_*8379delGCGCGCGCGCGCGCGCACACACACACACACACAC ACACACAC	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		3671		chr10	TogoVar
ITSN1_chr21_33637501_33904861	33690775	GTATATAT others(35): Show GTATATATATATATACATATATATATATATATATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02559.hp2 others(2): Show HG01243.hp1 HG02055.hp2 HG02559.hp2 HG03453.hp2 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0028 a0001c0029 a0003c0008 a0001c0028 a0001c0029 a0003c0008	a0001c0028t0058 a0001c0029t0068 a0003c0008t0026 others(1): Show a0001c0028t0058 a0001c0029t0068 a0003c0008t0026 a0003c0008t0075	a0001c0028t0058g0153 a0001c0029t0068g0152 a0003c0008t0026g0034 others(2): Show a0001c0028t0058g0153 a0001c0029t0068g0152 a0003c0008t0026g0034 a0003c0008t0026g0035 a0003c0008t0075g0033	5	164	0.0305	-42	c.-32 others(61): Show c.-32-28007_-32-27966delCATATATATATATATATATATATATG TATATATATATATATA	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
IZUMO4_chr19_2091915_2104590	2104381	AAGGCACC others(35): Show AAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAATGCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	431	0.0023	-42	c.50 others(53): Show c.5037_*5078delAGGCACCAACTCCAAGACGCCAACACCCAGACCC CAATGCCG	IZUMO4	ENSG00000099840.14	transcript	ENST00000395301.8	protein_coding		4792		chr19	TogoVar
JAKMIP1_chr4_6021199_6205549	6067702	ACAGGTCA others(35): Show ACAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	224	0.0045	-42	c.130 others(61): Show c.1303-2736_1303-2695delCAGAAGAGCTTGAGTGAACGTGGAGC TCAGGGGGGTGACCTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAZF1_chr7_27825577_28185795	27976344	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAGAATATATGGTCTTTCTG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01884.hp1 HG01975.hp1 others(4): Show HG00642.hp2 HG01884.hp1 HG01975.hp1 HG03225.hp2 HG04228.hp1 HG06807.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0055 a0001c0001t0001g0069 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0002g0053 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0154	7	21	0.3333	-42	c.188 others(61): Show c.188+15523_188+15564delCAGAAAGACCATATATTCTTTTTTTT TTTTTTTTTTTTTTTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4			chr7	TogoVar
JPH1_chr8_74229700_74326540	74316172	TTTTTTTA others(35): Show TTTTTTTAGTGTAGACAAAACTGTTGAATATTCAGGATTATCA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0028 a0001c0001t0014g0028	1	328	0.0030	-42	c.380 others(57): Show c.380-594_380-553delTGATAATCCTGAATATTCAACAGTTTTGTC TACACTAAAAAA	JPH1	ENSG00000104369.5	transcript	ENST00000342232.5	protein_coding	1/5			chr8	TogoVar
JPH2_chr20_44101590_44192188	44134485	ATATATAT others(35): Show ATATATATTTATTATATATAAATAATATATATTTATAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0091 a0002c0020t0091	a0002c0020t0091g0249 a0002c0020t0091g0249	1	332	0.0030	-42	c.117 others(63): Show c.1170-15904_1170-15863delATTTATTATAAATATATATTATTT ATATATAATAAATATATA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KANSL1L_chr2_210016421_210176409	210069789	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02451.hp2 others(3): Show HG02055.hp1 HG02109.hp1 HG02451.hp2 NA18906.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0002c0002t0013 a0002c0002t0017 others(1): Show a0001c0001t0013 a0002c0002t0013 a0002c0002t0017 a0002c0002t0030	a0001c0001t0013g0255 a0002c0002t0013g0266 a0002c0002t0013g0267 others(3): Show a0001c0001t0013g0255 a0002c0002t0013g0266 a0002c0002t0013g0267 a0002c0002t0017g0281 a0002c0002t0017g0282 a0002c0002t0030g0278	6	103	0.0583	-42	c.175 others(61): Show c.1755+5721_1755+5762delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	6/14			chr2	TogoVar
KAZN_chr1_14593685_15123043	14681631	ATATATAT others(35): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18963.hp1 NA19056.hp1 HG02602.hp2 NA18963.hp1 NA19056.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0009 a0001c0001 a0002c0002 a0006c0009	a0001c0001t0017 a0002c0002t0001 a0006c0009t0001 a0001c0001t0017 a0002c0002t0001 a0006c0009t0001	a0001c0001t0017g0023 a0002c0002t0001g0027 a0006c0009t0001g0034 a0001c0001t0017g0023 a0002c0002t0001g0027 a0006c0009t0001g0034	3	142	0.0211	-42	c.226 others(61): Show c.226+82410_226+82451delATATATATATATATATATATATATAT TTTTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681633	ATATATAT others(35): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02004.hp1 HG02273.hp2 others(2): Show HG00099.hp1 HG02004.hp1 HG02273.hp2 HG02451.hp2 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0001 a0002c0002t0005 a0001c0001t0007 a0002c0002t0001 a0002c0002t0005	a0001c0001t0007g0087 a0002c0002t0001g0017 a0002c0002t0001g0031 others(2): Show a0001c0001t0007g0087 a0002c0002t0001g0017 a0002c0002t0001g0031 a0002c0002t0001g0085 a0002c0002t0005g0037	5	132	0.0379	-42	c.226 others(61): Show c.226+82412_226+82453delATATATATATATATATATATATATTT TTTTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681635	ATATATAT others(35): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0002 a0001c0003t0002g0002	1	134	0.0075	-42	c.226 others(61): Show c.226+82414_226+82455delATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD12_chr3_127910232_127992666	127984905	ACTGACCA others(35): Show ACTGACCATTCTCCTTCAGAATCCCCTTCTACTGAAGCAACGC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0028 a0002c0004t0028	a0002c0004t0028g0196 a0002c0004t0028g0196	1	400	0.0025	-42	c.62 others(51): Show c.629_*670delTGACCATTCTCCTTCAGAATCCCCTTCTACTGAAGC AACGCC	KBTBD12	ENSG00000187715.13	transcript	ENST00000405109.5	protein_coding	6/6	629	INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNA4_chr11_30004730_30022030	30013745	TCCCCTTC others(35): Show TCCCCTTCACCAATGCTAGGTCTTAATTCTCACTGTCACTCTC	T T	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	390	0.0026	-42	c.-78 others(59): Show c.-782-327_-782-286delGAGAGTGACAGTGAGAATTAAGACCTAG CATTGGTGAAGGGG	KCNA4	ENSG00000182255.7	transcript	ENST00000328224.7	protein_coding	1/1			chr11	TogoVar
KCNH2_chr7_150939961_150983321	150978891	AACACACA others(35): Show AACACACACACACACACACACACACACACACACACACACATAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01109.hp1 HG01167.hp2 others(40): Show HG00280.hp1 HG01109.hp1 HG01167.hp2 HG01952.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02630.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG04199.hp1 NA18944.hp1 NA18981.hp1 NA18981.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19010.hp2 NA19043.hp1 NA19090.hp2 NA19240.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0015 a0005c0013	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0005t0002 a0001c0006t0001 a0001c0015t0007 a0005c0013t0001	a0001c0001t0001g0003 a0001c0001t0001g0100 a0001c0001t0001g0140 others(32): Show a0001c0001t0001g0003 a0001c0001t0001g0100 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0223 a0001c0001t0008g0173 a0001c0002t0001g0009 a0001c0002t0001g0030 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0190 a0001c0002t0001g0200 a0001c0002t0001g0209 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0005t0002g0189 a0001c0006t0001g0167 a0001c0006t0001g0169 a0001c0006t0001g0170 a0001c0015t0007g0172 a0005c0013t0001g0185	43	279	0.1541	-42	c.-10 others(52): Show c.-1020_-979delGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGT	KCNH2	ENSG00000055118.17	transcript	ENST00000262186.10	protein_coding		571		chr7	TogoVar
KCNH5_chr14_62694464_63050458	63003474	ATATATAT others(35): Show ATATATATTTTATATATATTATATATATATTTTATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0097 a0001c0009t0001g0097	1	221	0.0045	-42	c.305 others(59): Show c.305-2057_305-2016delAAATATATATAAAATATATATATAATAT ATATAAAATATATA	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	3/10			chr14	TogoVar
KCNIP4_chr4_20723606_21953772	21200371	CATATATG others(35): Show CATATATGTGTGTATATATATATATACATACATATATGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01123.hp1 HG01243.hp1 others(41): Show HG01106.hp2 HG01123.hp1 HG01243.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18948.hp2 NA18971.hp1 NA19030.hp1 NA19030.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0003t0003	a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0031 others(41): Show a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0002g0001 a0001c0001t0002g0020 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0063 a0001c0001t0002g0074 a0001c0001t0003g0002 a0001c0001t0003g0018 a0001c0001t0003g0061 a0001c0001t0003g0080 a0001c0001t0004g0026 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0067 a0001c0001t0005g0034 a0001c0001t0005g0072 a0001c0001t0007g0032 a0001c0001t0007g0046 a0001c0001t0009g0004 a0001c0001t0009g0057 a0001c0001t0012g0045 a0001c0002t0001g0040 a0001c0002t0001g0049 a0001c0002t0001g0065 a0001c0002t0001g0073 a0001c0002t0003g0039 a0001c0002t0004g0028 a0001c0002t0004g0048 a0001c0002t0004g0071 a0001c0002t0006g0019 a0001c0002t0006g0053 a0001c0002t0008g0010 a0001c0002t0008g0047 a0001c0003t0003g0029	44	80	0.5500	-42	c.62- others(61): Show c.62-317704_62-317663delACACACATATATGTATGTATATATAT ATATACACACATATAT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNQ2_chr20_63395208_63477655	63415429	CGGGAGGG others(35): Show CGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCG	C C	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0015 a0001c0016t0015	a0001c0016t0015g0293 a0001c0016t0015g0293	1	328	0.0030	-42	c.130 others(59): Show c.1302-345_1302-304delCGCCGGGTGCTCGGTCCCCGTGGCCTCC CCTCCCTCCCTCCC	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	12/16			chr20	TogoVar
KCNQ3_chr8_132115861_132486095	132187855	ATGGTGGT others(35): Show ATGGTGGTGGTGGTGGTGATAGTGATGGTGGCGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0138 a0001c0001t0016g0138	1	145	0.0069	-42	c.387 others(59): Show c.387-1716_387-1675delCCACCACCACCGCCACCATCACTATCAC CACCACCACCACCA	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNRG_chr13_50010444_50025922	50015090	AAAAAATA others(35): Show AAAAAATATATATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG03041.hp1 NA21309.hp1 HG02886.hp1 HG03041.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0001 a0001c0001t0001g0032	3	409	0.0073	-42	c.-40 others(51): Show c.-403_-362delAAAAATATATATATATATATATATATATATATATAT ATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		353		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015092	AAAATATA others(35): Show AAAATATATATATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02723.hp1 HG02970.hp2 HG02280.hp2 HG02723.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	349	0.0086	-42	c.-40 others(51): Show c.-401_-360delAAATATATATATATATATATATATATATATATATAT ATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		351		chr13	TogoVar
KCTD8_chr4_44168903_44453809	44181216	TCTCTTTC others(35): Show TCTCTTTCCACGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02717.hp1 others(3): Show HG02258.hp1 HG02258.hp2 HG02717.hp1 HG02922.hp2 HG03130.hp2 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0004c0007t0002 a0001c0001t0002 a0004c0007t0002	a0001c0001t0002g0137 a0001c0001t0002g0191 a0001c0001t0002g0254 others(3): Show a0001c0001t0002g0137 a0001c0001t0002g0191 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0268 a0004c0007t0002g0010	6	294	0.0204	-42	c.962 others(59): Show c.962-6008_962-5967delGGAGACCGTGGAAAGAGAGGGAGAGGGA GACCGTGGAAAGAG	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KDM1A_chr1_23014468_23088689	23017175	TTTTATAT others(35): Show TTTTATATATATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 NA19030.hp1 HG02451.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0311 a0001c0001t0001g0061 a0001c0001t0001g0311	2	219	0.0091	-42	c.-24 others(53): Show c.-2421_-2380delTTTATATATATATATATATATATATATATATATA TATATATA	KDM1A	ENSG00000004487.18	transcript	ENST00000400181.9	protein_coding		2292		chr1	TogoVar
KDM1A_chr1_23014468_23088689	23017177	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00738.hp1 others(77): Show HG00140.hp2 HG00597.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG01361.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02148.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp2 NA18948.hp2 NA18949.hp2 NA18955.hp1 NA18957.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18971.hp2 NA18972.hp2 NA18980.hp1 NA18982.hp1 NA18986.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp2 NA19007.hp2 NA19056.hp2 NA19060.hp1 NA19064.hp2 NA19067.hp1 NA19070.hp2 NA19075.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0060 others(64): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0215 a0001c0001t0001g0312 a0001c0001t0002g0114 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0059 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0119 a0001c0001t0003g0132 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0213	80	220	0.3636	-42	c.-24 others(53): Show c.-2419_-2378delTATATATATATATATATATATATATATATATATA TATATATA	KDM1A	ENSG00000004487.18	transcript	ENST00000400181.9	protein_coding		2290		chr1	TogoVar

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