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
ARHGEF10_chr8_1818926_1963641	1889400	ATCTGTGA others(24): Show ATCTGTGAGGAGACACTGAGTGGGGTGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01192.hp2 others(1): Show HG01069.hp2 HG01071.hp2 HG01192.hp2 HG02615.hp2	a0001 a0004 a0001 a0004	a0001c0019 a0004c0038 a0004c0086 a0001c0019 a0004c0038 a0004c0086	a0001c0019t0001 a0004c0038t0019 a0004c0086t0007 a0001c0019t0001 a0004c0038t0019 a0004c0086t0007	a0001c0019t0001g0194 a0001c0019t0001g0195 a0004c0038t0019g0243 others(1): Show a0001c0019t0001g0194 a0001c0019t0001g0195 a0004c0038t0019g0243 a0004c0086t0007g0320	4	353	0.0113	-31	c.118 others(50): Show c.1182+3788_1182+3818delCTGTGAGGAGACACTGAGTGGGGTGA GGGGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1889967	ATGTGAGG others(24): Show ATGTGAGGAGACACTGAGTGATGTGAGCAATC	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0100 a0001c0100	a0001c0100t0062 a0001c0100t0062	a0001c0100t0062g0265 a0001c0100t0062g0265	1	361	0.0028	-31	c.118 others(50): Show c.1183-3582_1183-3552delATGTGAGCAATCTGTGAGGAGACACT GAGTG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1889988	TGTGAGCA others(24): Show TGTGAGCAATCTGTGAGGAGACACTGAGTGCG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG02630.hp1 HG02717.hp2	a0001 a0012 a0001 a0012	a0001c0023 a0012c0084 a0001c0023 a0012c0084	a0001c0023t0007 a0012c0084t0008 a0001c0023t0007 a0012c0084t0008	a0001c0023t0007g0163 a0012c0084t0008g0352 a0001c0023t0007g0163 a0012c0084t0008g0352	2	360	0.0056	-31	c.118 others(50): Show c.1183-3575_1183-3545delCAATCTGTGAGGAGACACTGAGTGCG GTGAG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF12_chr11_120331413_120494937	120347145	TTCCTTCC others(24): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02976.hp1 HG03209.hp1 HG02970.hp1 HG02976.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0031 a0001c0002t0007 a0001c0007t0015 a0001c0001t0031 a0001c0002t0007 a0001c0007t0015	a0001c0001t0031g0131 a0001c0002t0007g0123 a0001c0007t0015g0125 a0001c0001t0031g0131 a0001c0002t0007g0123 a0001c0007t0015g0125	3	215	0.0140	-31	c.32+ others(46): Show c.32+9872_32+9902delCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC T	ARHGEF12	ENSG00000196914.9	transcript	ENST00000397843.7	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF12_chr11_120331413_120494937	120351427	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00738.hp2 HG01081.hp1 others(31): Show HG00597.hp1 HG00738.hp2 HG01081.hp1 HG01167.hp1 HG01496.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02148.hp2 HG02258.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02698.hp1 HG02809.hp2 HG03041.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03704.hp1 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18942.hp1 NA19079.hp1 NA19085.hp1 NA19089.hp2 NA20805.hp1 NA20905.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0005 a0010c0011 a0001c0001 a0003c0005 a0010c0011	a0001c0001t0001 a0001c0001t0021 a0001c0001t0022 others(3): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0003c0005t0001 a0010c0011t0001	a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 others(30): Show a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0273 a0001c0001t0021g0160 a0001c0001t0022g0158 a0001c0001t0023g0178 a0003c0005t0001g0002 a0003c0005t0001g0163 a0003c0005t0001g0167 a0003c0005t0001g0173 a0003c0005t0001g0174 a0003c0005t0001g0175 a0010c0011t0001g0187	34	289	0.1176	-31	c.32+ others(48): Show c.32+14154_32+14184delATATATATATATATATATATATATATAT TTT	ARHGEF12	ENSG00000196914.9	transcript	ENST00000397843.7	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF12_chr11_120331413_120494937	120351429	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	299	0.0033	-31	c.32+ others(48): Show c.32+14156_32+14186delATATATATATATATATATATATATATTT TTT	ARHGEF12	ENSG00000196914.9	transcript	ENST00000397843.7	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF18_chr19_7343937_7477478	7347400	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0291 a0001c0013t0001g0291	1	296	0.0034	-31	c.-19 others(42): Show c.-1951_-1921delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGG	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding		1536		chr19	TogoVar
ARHGEF28_chr5_73621196_73946990	73671708	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG01069.hp2 others(5): Show HG00140.hp1 HG00408.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG02602.hp1 HG03490.hp2 NA19011.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0014	a0001c0001 a0002c0006 a0003c0005 others(2): Show a0001c0001 a0002c0006 a0003c0005 a0007c0009 a0014c0066	a0001c0001t0002 a0002c0006t0002 a0003c0005t0002 others(2): Show a0001c0001t0002 a0002c0006t0002 a0003c0005t0002 a0007c0009t0002 a0014c0066t0001	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0032 others(5): Show a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0032 a0001c0001t0002g0033 a0002c0006t0002g0018 a0003c0005t0002g0016 a0007c0009t0002g0031 a0014c0066t0001g0015	8	183	0.0437	-31	c.-11 others(50): Show c.-11-13131_-11-13101delATATATATATATATATATATATATAT ATATT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73671710	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02897.hp1 NA19091.hp2 HG01106.hp2 HG02897.hp1 NA19091.hp2	a0001 a0024 a0001 a0024	a0001c0001 a0024c0068 a0001c0001 a0024c0068	a0001c0001t0001 a0024c0068t0002 a0001c0001t0001 a0024c0068t0002	a0001c0001t0001g0023 a0001c0001t0001g0028 a0024c0068t0002g0024 a0001c0001t0001g0023 a0001c0001t0001g0028 a0024c0068t0002g0024	3	158	0.0190	-31	c.-11 others(50): Show c.-11-13129_-11-13099delATATATATATATATATATATATATAT ATTTT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73671712	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0162 a0008c0011t0002g0162	1	174	0.0057	-31	c.-11 others(50): Show c.-11-13127_-11-13097delATATATATATATATATATATATATAT TTTTT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73671714	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0034 a0034	a0034c0036 a0034c0036	a0034c0036t0001 a0034c0036t0001	a0034c0036t0001g0057 a0034c0036t0001g0057	1	133	0.0075	-31	c.-11 others(50): Show c.-11-13125_-11-13095delATATATATATATATATATATATATTT TTTTT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARID4B_chr1_235161902_235333179	235294405	CGGGTTCA others(24): Show CGGGTTCAAGCAATTCTCCCGCTTGAACCCAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02027.hp1 others(17): Show HG01884.hp1 HG01891.hp1 HG02027.hp1 HG02040.hp2 HG02258.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03579.hp1 HG06807.hp1 NA18946.hp2 NA18956.hp2 NA18957.hp2 NA18962.hp2 NA18990.hp2 NA18998.hp2 NA19003.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 others(17): Show a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0245 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0004t0001g0162 a0001c0004t0001g0163 a0001c0004t0001g0164	20	118	0.1695	-31	c.6+3 others(46): Show c.6+32478_6+32508delCTGGGTTCAAGCGGGAGAATTGCTTGAACC C	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	2/23			chr1	TogoVar
ARID5B_chr10_61896699_62101944	61940943	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0107 a0001c0001t0006g0107	1	241	0.0041	-31	c.502 others(46): Show c.502+537_502+567delATATATATATATATATATATATTTTTTTTT T	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ARID5B_chr10_61896699_62101944	61940947	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp1 NA18906.hp2 others(2): Show HG02615.hp2 HG02622.hp1 NA18906.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0005t0010	a0001c0001t0001g0033 a0001c0001t0002g0222 a0001c0001t0003g0035 others(2): Show a0001c0001t0001g0033 a0001c0001t0002g0222 a0001c0001t0003g0035 a0001c0001t0005g0221 a0001c0005t0010g0206	5	241	0.0207	-31	c.502 others(46): Show c.502+541_502+571delATATATATATATATATATTTTTTTTTTTTT T	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ARID5B_chr10_61896699_62101944	61968446	ATCCAAAT others(24): Show ATCCAAATTCGGCTAATTGATACTTAGGTTCT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp2 HG03516.hp2 others(2): Show HG02922.hp1 HG02976.hp2 HG03516.hp2 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0005 a0001c0001t0001g0079 a0001c0001t0001g0108 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0079 a0001c0001t0001g0108 a0001c0001t0002g0202 a0001c0001t0006g0089	5	242	0.0207	-31	c.502 others(50): Show c.502+28044_502+28074delATTCGGCTAATTGATACTTAGGTTCT TCCAA	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ARL10_chr5_176360487_176386909	176375311	TCCATCCA others(24): Show TCCATCCATCCATCCATCCATCCATCATCCAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG01257.hp1 others(40): Show HG00099.hp2 HG00544.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01517.hp1 HG01928.hp1 HG01993.hp2 HG02027.hp2 HG02300.hp2 HG02818.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18950.hp1 NA18955.hp1 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp1 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18997.hp1 NA18999.hp2 NA19003.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0004 a0001c0001t0014 a0001c0001t0016 others(19): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0016 a0001c0001t0024 a0001c0001t0043 a0001c0001t0125 a0001c0001t0140 a0001c0001t0148 a0001c0001t0149 a0001c0002t0044 a0001c0003t0004 a0001c0003t0014 a0001c0003t0016 a0001c0003t0043 a0001c0003t0044 a0001c0003t0055 a0001c0003t0141 a0001c0003t0145 a0001c0003t0146 a0001c0003t0147 a0001c0003t0177 a0001c0004t0024	a0001c0001t0004g0004 a0001c0001t0004g0026 a0001c0001t0004g0027 others(33): Show a0001c0001t0004g0004 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0094 a0001c0001t0014g0013 a0001c0001t0014g0042 a0001c0001t0014g0043 a0001c0001t0016g0026 a0001c0001t0016g0101 a0001c0001t0024g0016 a0001c0001t0043g0042 a0001c0001t0125g0016 a0001c0001t0140g0090 a0001c0001t0148g0043 a0001c0001t0149g0001 a0001c0002t0044g0003 a0001c0003t0004g0007 a0001c0003t0004g0008 a0001c0003t0004g0028 a0001c0003t0004g0029 a0001c0003t0004g0030 a0001c0003t0014g0008 a0001c0003t0014g0010 a0001c0003t0014g0057 a0001c0003t0016g0024 a0001c0003t0016g0028 a0001c0003t0016g0030 a0001c0003t0043g0062 a0001c0003t0044g0008 a0001c0003t0055g0021 a0001c0003t0141g0008 a0001c0003t0145g0060 a0001c0003t0146g0008 a0001c0003t0147g0010 a0001c0003t0177g0020 a0001c0004t0024g0079	43	416	0.1034	-31	c.34 others(42): Show c.3442_*3472delATCCACCCATCCATCCATCCATCCATCCATC	ARL10	ENSG00000175414.7	transcript	ENST00000310389.6	protein_coding	4/4	3442	INFO_REALIGN_3_PRIME	chr5	TogoVar
ARL13B_chr3_93975155_94060678	94039411	AATGGCGT others(24): Show AATGGCGTGAACCCGGGAGGTGGAGCTTGCAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	262	0.0038	-31	c.690 others(46): Show c.690-468_690-438delATGGCGTGAACCCGGGAGGTGGAGCTTGCA G	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	5/9			chr3	TogoVar
ARNT2_chr15_80399382_80602933	80497727	AATAGATT others(24): Show AATAGATTTGAAATGGTAGAGCAGTGTTGGAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0101 a0001c0001t0038g0101	1	266	0.0038	-31	c.623 others(50): Show c.623-10400_623-10370delGATATAGATTTGAAATGGTAGAGCAG TGTTG	ARNT2	ENSG00000172379.22	transcript	ENST00000303329.9	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARRDC1_chr9_137600686_137620360	137601228	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01123.hp2 HG01433.hp1 others(5): Show HG01069.hp2 HG01123.hp2 HG01433.hp1 HG01433.hp2 HG02257.hp1 HG02738.hp1 NA19079.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0077 a0002c0002t0001g0006 a0002c0002t0001g0028 a0001c0001t0001g0077 a0002c0002t0001g0006 a0002c0002t0001g0028	8	336	0.0238	-31	c.-44 others(42): Show c.-4489_-4459delATATATATATATATATATATATATATATATA	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4457		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601229	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	335	0.0030	-31	c.-44 others(42): Show c.-4488_-4458delTATATATATATATATATATATATATATATAT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4456		chr9	TogoVar
ARSA_chr22_50617754_50633152	50623898	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 NA18949.hp2 HG02055.hp2 NA18949.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0055 a0003c0003t0044 a0001c0001t0055 a0003c0003t0044	a0001c0001t0055g0059 a0003c0003t0044g0091 a0001c0001t0055g0059 a0003c0003t0044g0091	2	20	0.1000	-31	c.12 others(42): Show c.1216_*1246delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding	8/8	1216		chr22	TogoVar
AS3MT_chr10_102864470_102906899	102885495	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	190	0.0053	-31	c.886 others(48): Show c.886-5027_886-4997delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAP1_chr8_130047104_130448674	130432081	GGGGAAGG others(24): Show GGGGAAGGGGGAGGAAAGGGAAGAGGGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0263 a0001c0001t0021g0263	1	306	0.0033	-31	c.-28 others(50): Show c.-28+11348_-28+11378delTCTCCCCCTCTTCCCTTTCCTCCCCC TTCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	1/29			chr8	TogoVar
ASB15_chr7_123596821_123644481	123620528	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	356	0.0028	-31	c.451 others(48): Show c.451+2793_451+2823delATATATATATATATATATATATATATTT TTT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB1_chr2_238421927_238457250	238453152	TCACACGT others(24): Show TCACACGTAACGTGGCCCAGGATATGCCCTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0173 a0001c0002t0005g0173	1	414	0.0024	-31	c.66 others(42): Show c.6642_*6672delCACACGTAACGTGGCCCAGGATATGCCCTCA	ASB1	ENSG00000065802.12	transcript	ENST00000264607.9	protein_coding		903		chr2	TogoVar
ASB5_chr4_176208673_176274222	176219367	ATATTTGT others(24): Show ATATTTGTATGATATATAAATATATATATTTG	A A	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0105 a0001c0001t0008g0105	1	312	0.0032	-31	c.670 others(48): Show c.670+1757_670+1787delCAAATATATATATTTATATATCATACAA ATA	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASCC1_chr10_72091032_72221276	72217179	AAAATGAA others(24): Show AAAATGAAAGTGTAGGCCGGGCGCGGTGGCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0169	1	214	0.0047	-31	c.-10 others(42): Show c.-1037_-1007delGAGCCACCGCGCCCGGCCTACACTTTCATTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		904		chr10	TogoVar
ASL_chr7_66070819_66098576	66088957	CGGCCTCT others(24): Show CGGCCTCTGTATCCCCCGCCGCCCGCGGACGT	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0068 a0004c0012t0001g0068	1	314	0.0032	-31	c.833 others(44): Show c.833+40_833+70delCTCTGTATCCCCCGCCGCCCGCGGACGTGGC	ASL	ENSG00000126522.17	transcript	ENST00000304874.14	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASMT_chrX_1610059_1648081	1624589	GGGCTGCC others(24): Show GGGCTGCCCCCAGGCAGATGCTGGGAGGTGGT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	221	0.0045	-31	c.374 others(46): Show c.374+198_374+228delCCCCAGGCAGATGCTGGGAGGTGGTGGCTG C	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1624660	CCAGGCAG others(24): Show CCAGGCAGATGCTGGGAGGTGGTGGCTGACCA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	221	0.0045	-31	c.374 others(46): Show c.374+284_374+314delTGGCTGACCACAGGCAGATGCTGGGAGGTG G	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1624782	CCCCAGGC others(24): Show CCCCAGGCAGATGCTGGGAGGTGGGGGCTGCA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG01496.hp1 others(15): Show HG00544.hp2 HG00597.hp2 HG01496.hp1 HG01993.hp1 HG02080.hp2 HG02273.hp2 HG02559.hp2 HG02622.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG06807.hp2 NA18906.hp2 NA18992.hp1 NA19030.hp1 NA19064.hp1 NA19072.hp2 NA19074.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0002c0008 a0004c0004 a0005c0009 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0002c0008t0001 a0004c0004t0001 a0005c0009t0001 a0009c0013t0001	a0001c0001t0001g0086 a0001c0001t0002g0140 a0001c0001t0002g0141 others(15): Show a0001c0001t0001g0086 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0201 a0001c0003t0001g0090 a0001c0003t0002g0146 a0001c0003t0002g0177 a0002c0002t0001g0026 a0002c0002t0001g0121 a0002c0002t0001g0185 a0002c0002t0002g0131 a0002c0006t0001g0187 a0002c0008t0001g0010 a0004c0004t0001g0168 a0005c0009t0001g0139 a0009c0013t0001g0048	18	174	0.1034	-31	c.374 others(46): Show c.374+476_374+506delCACCCAGGCAGATGCTGGGAGGTGGGGGCT G	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1624900	GGCTGACC others(24): Show GGCTGACCCCAGGCAGATGCTGGGAGGTGGGC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02723.hp1 others(7): Show HG01891.hp1 HG02109.hp1 HG02723.hp1 HG02809.hp2 HG02976.hp1 HG03453.hp1 HG03516.hp1 HG06807.hp1 NA18906.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0007	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0003c0007t0001	a0001c0001t0001g0014 a0001c0001t0001g0205 a0001c0001t0001g0209 others(7): Show a0001c0001t0001g0014 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0003t0001g0022 a0002c0002t0001g0003 a0002c0002t0001g0070 a0002c0002t0001g0208 a0002c0002t0001g0210 a0002c0002t0002g0158 a0003c0007t0001g0011	10	218	0.0459	-31	c.374 others(46): Show c.374+507_374+537delACCCCAGGCAGATGCTGGGAGGTGGGCGCT G	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASRGL1_chr11_62332448_62398412	62362891	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0338 a0001c0001t0009g0338	1	2	0.5000	-31	c.491 others(48): Show c.491+5762_491+5792delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASTN2_chr9_116418112_117420057	116803496	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02886.hp1 HG02886.hp2 others(5): Show HG01109.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp1 NA19066.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0009 others(1): Show a0001c0001 a0001c0003 a0001c0009 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0004 a0001c0009t0004 a0002c0004t0005	a0001c0001t0001g0037 a0001c0001t0001g0100 a0001c0001t0002g0018 others(5): Show a0001c0001t0001g0037 a0001c0001t0001g0100 a0001c0001t0002g0018 a0001c0001t0003g0013 a0001c0003t0001g0054 a0001c0003t0004g0085 a0001c0009t0004g0032 a0002c0004t0005g0006	8	76	0.1053	-31	c.239 others(50): Show c.2396+2105_2396+2135delAAAAATATATATATATATATATATAT ATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ATAD3B_chr1_1466765_1502848	1497151	GCGGTCTA others(24): Show GCGGTCTACCTCTGCTCGCTCTCTCCATTTCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0009 a0001c0001t0025g0009	1	274	0.0036	-31	c.13 others(42): Show c.1336_*1366delGGTCTACCTCTGCTCGCTCTCTCCATTTCTC	ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	16/16	1336	INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3B_chr1_1466765_1502848	1497154	GTCTACCT others(24): Show GTCTACCTCTGCTCGCTCTCTCCATTTCTCTC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0017 a0002c0024t0017	a0002c0024t0017g0037 a0002c0024t0017g0037	1	274	0.0036	-31	c.13 others(42): Show c.1370_*1400delCTACCTCTGCTCGCTCTCTCCATTTCTCTCT	ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	16/16	1370	INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP11A_chr13_112685038_112892168	112721783	GAGTGTTA others(24): Show GAGTGTTAAGAAAAAGGCTGTTTCCCAAATTC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0196 a0001c0022t0001g0196	1	252	0.0040	-31	c.39+ others(48): Show c.39+31331_39+31361delTGTTAAGAAAAAGGCTGTTTCCCAAATT CAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112845248	CCAATCCA others(24): Show CCAATCCAGTTGCCAGCACTAGCGGTACTATT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02559.hp1 others(6): Show HG01243.hp1 HG01891.hp1 HG02559.hp1 HG02572.hp1 HG02970.hp1 HG02976.hp2 HG03516.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0003 a0001c0002t0013 others(6): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0013 a0001c0002t0016 a0001c0002t0036 a0001c0002t0049 a0001c0002t0055 a0001c0009t0004 a0001c0009t0051	a0001c0001t0001g0210 a0001c0002t0003g0198 a0001c0002t0013g0118 others(6): Show a0001c0001t0001g0210 a0001c0002t0003g0198 a0001c0002t0013g0118 a0001c0002t0016g0209 a0001c0002t0036g0042 a0001c0002t0049g0113 a0001c0002t0055g0117 a0001c0009t0004g0140 a0001c0009t0051g0141	9	252	0.0357	-31	c.180 others(50): Show c.1809+2872_1809+2902delATCCAGTTGCCAGCACTAGCGGTACT ATTCA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112845342	CCAGTCCA others(24): Show CCAGTCCAGTTGCCAGCACTAGCGGTACTATT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG04199.hp2 HG03669.hp2 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0028 a0002c0003t0002 a0002c0003t0028	a0002c0003t0002g0090 a0002c0003t0028g0233 a0002c0003t0002g0090 a0002c0003t0028g0233	2	252	0.0079	-31	c.180 others(50): Show c.1809+3010_1809+3040delCACTAGCGGTACTATTCAGTCCAGTT GCCAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112891735	TGTTTGTG others(24): Show TGTTTGTGACGTAGTCTCCTTGTGCCCCACTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0039 a0001c0039t0039	a0001c0039t0039g0078 a0001c0039t0039g0078	1	252	0.0040	-31	c.98 others(42): Show c.9870_*9900delGTTTGTGACGTAGTCTCCTTGTGCCCCACTG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding		4568		chr13	TogoVar
ATP6V0A4_chr7_138701294_138803196	138803110	TGTGGCTA others(24): Show TGTGGCTAATGGGGAAGGGGAGTAAGGCTAAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	374	0.0027	-31	c.-52 others(42): Show c.-5228_-5198delGTTAGCCTTACTCCCCTTCCCCATTAGCCAC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding		4915		chr7	TogoVar
ATP6V0C_chr16_2508952_2525218	2520569	TGGGGACC others(24): Show TGGGGACCGGGCGGGGTGCAGGGTGCGGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	334	0.0030	-31	c.82 others(40): Show c.825_*855delGGGGACCGGGCGGGGTGCAGGGTGCGGGGCC	ATP6V0C	ENSG00000185883.12	transcript	ENST00000330398.9	protein_coding		352		chr16	TogoVar
ATP6V0C_chr16_2508952_2525218	2520607	CGGGCGGG others(24): Show CGGGCGGGGTGCAGGGTGCGGGGCCGGGGACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01070.hp1 others(5): Show HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp1 HG02602.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0045 a0001c0001t0001g0046	8	334	0.0240	-31	c.86 others(40): Show c.863_*893delGGGCGGGGTGCAGGGTGCGGGGCCGGGGACA	ATP6V0C	ENSG00000185883.12	transcript	ENST00000330398.9	protein_coding		390		chr16	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631690	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	364	0.0027	-31	c.-30 others(42): Show c.-3086_-3056delAAAAAAAAAAAAAAATATATATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2942		chr22	TogoVar
ATP6V1H_chr8_53710543_53848245	53755713	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18979.hp2 NA18948.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0239 a0001c0001t0001g0201 a0001c0001t0001g0239	2	283	0.0071	-31	c.127 others(48): Show c.1277+811_1277+841delTATATATATATATATATATATATATATA TAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755714	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	283	0.0035	-31	c.127 others(48): Show c.1277+810_1277+840delATATATATATATATATATATATATATAT ATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP9B_chr18_79064394_79383283	79323079	ATTTATCG others(24): Show ATTTATCGTTGCTTCGCGTTAGTAATCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp1 HG02970.hp2 others(1): Show HG02572.hp1 HG02809.hp1 HG02970.hp2 HG04204.hp1	a0001 a0001	a0001c0011 a0001c0039 a0001c0011 a0001c0039	a0001c0011t0006 a0001c0039t0002 a0001c0011t0006 a0001c0039t0002	a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 others(1): Show a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 a0001c0039t0002g0266	4	280	0.0143	-31	c.177 others(50): Show c.1774-5922_1774-5892delCGTTAGTAATCCTCCGTTTATCGTTG CTTCG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATXN7L1_chr7_105599772_105881599	105619520	ATATATAT others(24): Show ATATATATATATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0245 a0001c0001t0003g0245	1	250	0.0040	-31	c.151 others(48): Show c.1517+649_1517+679delAAAAAAAAAAAAAAAAAAAAATATATAT ATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619522	ATATATAT others(24): Show ATATATATATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG00735.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0198 a0001c0001t0013g0060 a0001c0001t0004g0198 a0001c0001t0013g0060	2	242	0.0083	-31	c.151 others(48): Show c.1517+647_1517+677delAAAAAAAAAAAAAAAAAAAAAAATATAT ATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L3B_chr12_74532835_74550430	74533853	AAAAAATA others(24): Show AAAAAATAAAAATAAAAAAAAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(121): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02559.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG03098.hp1 HG03471.hp1 HG03490.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18974.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18993.hp1 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19012.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19090.hp1 NA19091.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0050 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0077 a0001c0003t0031	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(16): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0007g0000 a0001c0001t0017g0000 a0001c0001t0024g0000 a0001c0001t0026g0000 a0001c0001t0027g0000 a0001c0001t0029g0000 a0001c0001t0050g0000 a0001c0001t0055g0000 a0001c0001t0056g0000 a0001c0001t0058g0000 a0001c0001t0059g0000 a0001c0001t0062g0000 a0001c0001t0063g0000 a0001c0001t0064g0000 a0001c0001t0077g0000 a0001c0003t0031g0000	124	352	0.3523	-31	c.-42 others(42): Show c.-4259_-4229delAAAAATAAAAATAAAAAAAAAATAAATAAAT	ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding		3981		chr12	TogoVar

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