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
ARHGEF18_chr19_7343937_7477478	7362119	GAGAAGGA others(47): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGGAGAAGAAGGA GAAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00738.hp1 others(5): Show HG00280.hp1 HG00423.hp1 HG00738.hp1 HG01346.hp2 HG02486.hp2 NA18941.hp2 NA18964.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0011 a0001c0001 a0001c0002 a0004c0011	a0001c0001t0002 a0001c0001t0008 a0001c0001t0016 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0016 a0001c0002t0003 a0004c0011t0003	a0001c0001t0002g0153 a0001c0001t0002g0159 a0001c0001t0008g0253 others(5): Show a0001c0001t0002g0153 a0001c0001t0002g0159 a0001c0001t0008g0253 a0001c0001t0016g0176 a0001c0002t0003g0127 a0001c0002t0003g0152 a0001c0002t0003g0157 a0004c0011t0003g0167	8	298	0.0269	-54	c.-11 others(71): Show c.-110-659_-110-606delAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGGAGAAGAAGGAGAAGAAG	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7385887	CCTCCCTC others(47): Show CCTCCCTCCCTCTCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCTCTCTC CCCCT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02109.hp1 HG02572.hp2 others(3): Show HG01099.hp2 HG02109.hp1 HG02572.hp2 HG02615.hp1 HG03540.hp2 HG03579.hp1	a0002 a0018 a0027 a0002 a0018 a0027	a0002c0007 a0018c0038 a0027c0037 a0002c0007 a0018c0038 a0027c0037	a0002c0007t0001 a0018c0038t0001 a0027c0037t0001 a0002c0007t0001 a0018c0038t0001 a0027c0037t0001	a0002c0007t0001g0011 a0002c0007t0001g0016 a0002c0007t0001g0017 others(3): Show a0002c0007t0001g0011 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0021 a0018c0038t0001g0022 a0027c0037t0001g0020	6	298	0.0201	-54	c.967 others(71): Show c.967+2692_967+2745delCCTCTCTCTCTCCCTCTCTCCCTCTCTC TCTCTCTCTCTCTCCCCCTCTCCCTC	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	10/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF28_chr5_73621196_73946990	73741375	GTGTGTGT others(47): Show GTGTGTGTGTGTATATATATATATATATATATATATATATATATATATAT ATATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02486.hp1 others(6): Show HG02109.hp2 HG02451.hp1 HG02486.hp1 HG02698.hp1 HG02735.hp2 HG03209.hp1 HG03486.hp2 HG03540.hp1 NA19011.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0010	a0001c0025 a0002c0002 a0002c0006 others(4): Show a0001c0025 a0002c0002 a0002c0006 a0003c0005 a0004c0004 a0008c0011 a0010c0056	a0001c0025t0001 a0002c0002t0002 a0002c0006t0004 others(6): Show a0001c0025t0001 a0002c0002t0002 a0002c0006t0004 a0003c0005t0004 a0004c0004t0001 a0004c0004t0004 a0004c0004t0005 a0008c0011t0002 a0010c0056t0002	a0001c0025t0001g0156 a0002c0002t0002g0158 a0002c0006t0004g0114 others(6): Show a0001c0025t0001g0156 a0002c0002t0002g0158 a0002c0006t0004g0114 a0003c0005t0004g0103 a0004c0004t0001g0167 a0004c0004t0004g0112 a0004c0004t0005g0183 a0008c0011t0002g0162 a0010c0056t0002g0074	9	188	0.0479	-54	c.34- others(69): Show c.34-8460_34-8407delGTGTGTGTGTATATATATATATATATATAT ATATATATATATATATATATATAT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73741377	GTGTGTGT others(47): Show GTGTGTGTGTATATATATATATATATATATATATATATATATATATATAT ATATA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0009 a0007c0009t0009	a0007c0009t0009g0164 a0007c0009t0009g0164	1	188	0.0053	-54	c.34- others(69): Show c.34-8458_34-8405delGTGTGTGTATATATATATATATATATATAT ATATATATATATATATATATATAT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF7_chr13_111110310_111310732	111221229	ATATAGAT others(47): Show ATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATAT ATATC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0070 a0001c0001t0011g0070	1	274	0.0037	-54	c.670 others(71): Show c.670+3354_670+3407delGATATATATGTCTATATATATCTATATA GATATATATGTCTATATATATCTATA	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARID2_chr12_45724706_45913037	45899657	ATATATAT others(47): Show ATATATATATATGGTTATATATGGTTATATATATATGGTTATATATATAT ATGGT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0107 a0003c0004t0006g0107	1	318	0.0031	-54	c.536 others(73): Show c.5364-5255_5364-5202delGGTTATATATATATGGTTATATATAT ATATGGTTATATATATATGGTTATATAT	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARMC8_chr3_138182301_138303373	138264770	ATTTGTTT others(47): Show ATTTGTTTAATATTACACCTTAACCTTATATCCAGAATTATCCTTGTAAT TTTTG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	246	0.0041	-54	c.129 others(71): Show c.1299+559_1299+612delTTTGTTTAATATTACACCTTAACCTTAT ATCCAGAATTATCCTTGTAATTTTTG	ARMC8	ENSG00000114098.18	transcript	ENST00000469044.6	protein_coding	14/21			chr3	TogoVar
ARRB1_chr11_75255122_75356661	75350456	CTGCTGTG others(47): Show CTGCTGTGCCCACTTAGGGGGTGGGGAGGGCAACGGGGAAAATAGGGTGG CAACG	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	320	0.0031	-54	c.20+ others(69): Show c.20+1078_20+1131delCGTTGCCACCCTATTTTCCCCGTTGCCCTC CCCACCCCCTAAGTGGGCACAGCA	ARRB1	ENSG00000137486.17	transcript	ENST00000420843.7	protein_coding	1/15			chr11	TogoVar
ASB13_chr10_5633867_5671595	5647860	TAAATGCT others(47): Show TAAATGCTCGTGCAAGTAAACACCTGCTCAGGTGAACAGCCTTGCAAGTA TATAC	T T	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0001 a0011c0009t0001	a0011c0009t0001g0177 a0011c0009t0001g0177	1	446	0.0022	-54	c.517 others(71): Show c.517+1056_517+1109delGTATATACTTGCAAGGCTGTTCACCTGA GCAGGTGTTTACTTGCACGAGCATTT	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	4/5			chr10	TogoVar
ASB5_chr4_176208673_176274222	176219367	ATATTTGT others(47): Show ATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATAT ATATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01358.hp1 HG01934.hp2 others(21): Show HG00408.hp1 HG01358.hp1 HG01934.hp2 HG01978.hp2 HG01993.hp2 HG02040.hp1 HG02523.hp2 HG03710.hp2 HG03831.hp1 HG04199.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18963.hp1 NA18966.hp2 NA18972.hp2 NA18999.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19074.hp1 NA19079.hp1 NA19081.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0020 a0001c0004t0001	a0001c0001t0001g0011 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show a0001c0001t0001g0011 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0082 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0369 a0001c0001t0005g0108 a0001c0001t0005g0120 a0001c0001t0005g0122 a0001c0001t0005g0229 a0001c0001t0008g0083 a0001c0001t0008g0102 a0001c0001t0009g0125 a0001c0001t0009g0126 a0001c0001t0014g0111 a0001c0001t0020g0375 a0001c0004t0001g0117 a0001c0004t0001g0118	24	410	0.0585	-54	c.670 others(71): Show c.670+1734_670+1787delCATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATA	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASCC2_chr22_29783611_29843274	29818403	TACACACA others(47): Show TACACACACACACACACACACACACACACACACACACACACACACACACA CACAC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0309 a0001c0001t0003g0309	1	372	0.0027	-54	c.542 others(71): Show c.542-2384_542-2331delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGT	ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	5/19			chr22	TogoVar
ASCC3_chr6_100503194_100886329	100608481	ATATATAT others(47): Show ATATATATACTTTATATATATATACTTTATATATATACTTTATATATATA TACTT	A A	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18994.hp2 NA18963.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0196 a0001c0001t0004g0197	2	314	0.0064	-54	c.478 others(73): Show c.4786-1447_4786-1394delAAGTATATATATATAAAGTATATATA TAAAGTATATATATATAAAGTATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCL4_chr12_107769704_107781644	107780881	GTATGAAA others(47): Show GTATGAAAAGTATACCTGTGTGGGTTTAATATTGTTCCTTGGGTGCTAAC TAGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	462	0.0022	-54	c.51 others(65): Show c.5145_*5198delTATGAAAAGTATACCTGTGTGGGTTTAATATTGT TCCTTGGGTGCTAACTAGTT	ASCL4	ENSG00000187855.6	transcript	ENST00000342331.5	protein_coding		4238		chr12	TogoVar
ASMTL_chrX_1398139_1457909	1402810	TCTTCCCC others(47): Show TCTTCCCCTCCTCCCCGAATGCAGCCTCCTTCCCCTCCTCCCCGAATGCA GCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0149 a0002c0005t0001g0149	1	185	0.0054	-54	c.40 others(63): Show c.405_*458delGAGGCTGCATTCGGGGAGGAGGGGAAGGAGGCTGCA TTCGGGGAGGAGGGGAAG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		328		chrX	TogoVar
ASMTL_chrX_1398139_1457909	1448527	GCCATCTT others(47): Show GCCATCTTGGACACACACTGCCATCTTGGATAAGCACCACCATCTTGGAC ACACA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0038 a0002c0005t0001g0038	1	185	0.0054	-54	c.93+ others(69): Show c.93+4167_93+4220delTGTGTGTCCAAGATGGTGGTGCTTATCCAA GATGGCAGTGTGTGTCCAAGATGG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12			chrX	TogoVar
ASTL_chr2_96117818_96143502	96138570	CCTCCACC others(47): Show CCTCCACCTGCAGCCCCGCCCCAACCACCTCCACCTGCAGCCCCGCCCCA ACCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 NA19074.hp2 HG03486.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	2	396	0.0051	-54	c.-18 others(63): Show c.-188_-135delATGGTTGGGGCGGGGCTGCAGGTGGAGGTGGTTGGG GCGGGGCTGCAGGTGGAG	ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding		69		chr2	TogoVar
ASTN2_chr9_116418112_117420057	117016619	TCTATCTA others(47): Show TCTATCTATATATATATATATATATATATATATATATAACCTATATATAT GTTAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20129.hp1 HG01891.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0016 a0001c0003t0007 a0001c0001t0016 a0001c0003t0007	a0001c0001t0016g0075 a0001c0003t0007g0074 a0001c0001t0016g0075 a0001c0003t0007g0074	2	102	0.0196	-54	c.142 others(73): Show c.1424-8414_1424-8361delGTAACATATATATAGGTTATATATAT ATATATATATATATATATATATAGATAG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22			chr9	TogoVar
ATAD3A_chr1_1507162_1539685	1525026	GGTTTCCC others(47): Show GGTTTCCCACGGCCTTCTGAGGCTGGGCCGTGGTCAGCTGCCCAGAGGCC AGGCT	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0321 a0011c0013t0001g0323 a0011c0013t0001g0321 a0011c0013t0001g0323	2	420	0.0048	-54	c.121 others(71): Show c.1215-212_1215-159delTTTCCCACGGCCTTCTGAGGCTGGGCCG TGGTCAGCTGCCCAGAGGCCAGGCTG	ATAD3A	ENSG00000197785.14	transcript	ENST00000378756.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3A_chr1_1507162_1539685	1532885	GGGGCCCC others(47): Show GGGGCCCCTGACCCACAGTGGCGGTGCGGCTCCGGTCAGTGTCTCCTGCG CTCCC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0245 a0002c0002t0001g0245	1	420	0.0024	-54	c.161 others(72): Show c.1615-1033_1615-980delTGACCCACAGTGGCGGTGCGGCTCCGG TCAGTGTCTCCTGCGCTCCCGGGCCCC	ATAD3A	ENSG00000197785.14	transcript	ENST00000378756.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF6_chr1_161761320_161969070	161878489	GGGTTCAG others(47): Show GGGTTCAGGACCAAATTAGATTTTGAATTGGAGAAGGATGAGAGCAGCAA AGGAC	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0090 a0003c0004t0003g0090	1	332	0.0030	-54	c.171 others(75): Show c.1719+15231_1719+15284delCGGTTCAGGACCAAATTAGATTTT GAATTGGAGAAGGATGAGAGCAGCAAAGGA	ATF6	ENSG00000118217.7	transcript	ENST00000367942.4	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATG2B_chr14_96274195_96368341	96308203	TATATATA others(47): Show TATATATAAATACATAAATATATATATACATATATATATATATATATATA CACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp2 HG02896.hp2 others(4): Show HG02145.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0008 a0006c0007t0008	a0006c0007t0008g0001 a0006c0007t0008g0080 a0006c0007t0008g0082 others(1): Show a0006c0007t0008g0001 a0006c0007t0008g0080 a0006c0007t0008g0082 a0006c0007t0008g0089	7	356	0.0197	-54	c.430 others(73): Show c.4303+1196_4303+1249delGTGTGTATATATATATATATATATAT GTATATATATATTTATGTATTTATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41			chr14	TogoVar
ATG9B_chr7_151010151_151029494	151027374	TTCTCCCC others(47): Show TTCTCCCCATGTGATGAAATATGGCCTCGTGGGAAGGGAAAGACCTGACC GTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0001 a0014c0019t0001	a0014c0019t0001g0046 a0014c0019t0001g0046	1	466	0.0022	-54	c.-30 others(65): Show c.-3005_-2952delGGGACGGTCAGGTCTTTCCCTTCCCACGAGGCCA TATTTCATCACATGGGGAGA	ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding		2881		chr7	TogoVar
ATL2_chr2_38288954_38382273	38325609	TACACACA others(47): Show TACACACACACCAGTACATACACACACACACACACACACACACACACACC AGTAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0095 a0001c0003t0019g0095	1	236	0.0042	-54	c.364 others(71): Show c.364-6644_364-6591delGTACTGGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATGTACTGGTGTGTGTGT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATP11A_chr13_112685038_112892168	112772524	TTCATCAC others(47): Show TTCATCACCCTCAAATGAAACCCCATGCCCAGTACCAGGCCCTCCCAAGT GCTTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00544.hp2 others(70): Show HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00642.hp2 HG01069.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02735.hp2 HG02976.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18969.hp1 NA18974.hp2 NA18978.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp2 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19091.hp2 NA20129.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0007 a0014 a0015	a0001c0001 a0001c0002 a0001c0004 others(16): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0001c0019 a0001c0022 a0001c0028 a0002c0003 a0002c0010 a0003c0007 a0003c0008 a0003c0012 a0005c0032 a0006c0036 a0007c0034 a0014c0035 a0015c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0019 a0001c0001t0022 a0001c0001t0026 a0001c0001t0072 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0016 a0001c0002t0018 a0001c0002t0059 a0001c0002t0070 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0004t0028 a0001c0004t0029 a0001c0005t0001 a0001c0005t0020 a0001c0005t0061 a0001c0005t0071 a0001c0006t0001 a0001c0011t0001 a0001c0019t0008 a0001c0022t0001 a0001c0028t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0007 a0002c0003t0009 a0002c0003t0025 a0002c0003t0027 a0002c0010t0001 a0002c0010t0040 a0003c0007t0011 a0003c0008t0005 a0003c0008t0008 a0003c0008t0011 a0003c0012t0005 a0005c0032t0001 a0006c0036t0001 a0007c0034t0031 a0014c0035t0001 a0015c0037t0062	a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 others(70): Show a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0085 a0001c0001t0001g0120 a0001c0001t0001g0156 a0001c0001t0001g0181 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0244 a0001c0001t0002g0206 a0001c0001t0010g0122 a0001c0001t0019g0018 a0001c0001t0022g0202 a0001c0001t0026g0227 a0001c0001t0072g0006 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0190 a0001c0002t0003g0198 a0001c0002t0012g0026 a0001c0002t0012g0028 a0001c0002t0016g0209 a0001c0002t0018g0189 a0001c0002t0059g0201 a0001c0002t0070g0199 a0001c0004t0001g0224 a0001c0004t0002g0195 a0001c0004t0002g0208 a0001c0004t0006g0203 a0001c0004t0006g0228 a0001c0004t0028g0246 a0001c0004t0029g0060 a0001c0005t0001g0223 a0001c0005t0020g0247 a0001c0005t0061g0129 a0001c0005t0071g0125 a0001c0006t0001g0135 a0001c0006t0001g0184 a0001c0006t0001g0194 a0001c0011t0001g0139 a0001c0019t0008g0051 a0001c0022t0001g0196 a0001c0028t0002g0136 a0002c0003t0001g0137 a0002c0003t0001g0236 a0002c0003t0002g0118 a0002c0003t0002g0238 a0002c0003t0002g0248 a0002c0003t0007g0185 a0002c0003t0007g0186 a0002c0003t0009g0226 a0002c0003t0009g0232 a0002c0003t0009g0242 a0002c0003t0025g0241 a0002c0003t0027g0233 a0002c0010t0001g0200 a0002c0010t0001g0239 a0002c0010t0040g0221 a0003c0007t0011g0025 a0003c0008t0005g0249 a0003c0008t0008g0245 a0003c0008t0011g0020 a0003c0012t0005g0235 a0003c0012t0005g0243 a0005c0032t0001g0234 a0006c0036t0001g0187 a0007c0034t0031g0075 a0014c0035t0001g0029 a0015c0037t0062g0204	73	254	0.2874	-54	c.40- others(71): Show c.40-12587_40-12534delATGCCCAGTACCAGGCCCTCCCAAGTGC TTGTCATCACCCTCAAATGAAACCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112862932	CAGTGCAG others(47): Show CAGTGCAGGCCACGCAGCTTCCCAGCGGGATCCATCACCACGTGCACAGT AATTG	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0045 a0001c0045t0045	a0001c0045t0045g0133 a0001c0045t0045g0133	1	254	0.0039	-54	c.299 others(71): Show c.2991+365_2991+418delGCCACGCAGCTTCCCAGCGGGATCCATC ACCACGTGCACAGTAATTGAGTGCAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112863516	CGCAATAA others(47): Show CGCAATAATTCAGCATAGCACGTGCAGCTTCCCAGCGGGATCCATCACCA CATGG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0218 a0001c0009t0003g0218	1	254	0.0039	-54	c.299 others(71): Show c.2991+945_2991+998delATAATTCAGCATAGCACGTGCAGCTTCC CAGCGGGATCCATCACCACATGGGCA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112863862	ATGCAGCT others(47): Show ATGCAGCTTCCCAGCGGGGTCCATCACCACCTGCGCAGTAATTCAGTGCA GCACG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0040 a0002c0010t0040	a0002c0010t0040g0221 a0002c0010t0040g0221	1	254	0.0039	-54	c.299 others(73): Show c.2991+1336_2991+1389delAGCACGTGCAGCTTCCCAGCGGGGTC CATCACCACCTGCGCAGTAATTCAGTGC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112863985	GGGGTCCA others(47): Show GGGGTCCATCACCACGTGCACAGTAATTCAGTGCAGCACGTGCAGCTTCT CAGCA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG01099.hp2 others(12): Show HG00544.hp1 HG00558.hp1 HG01099.hp2 HG01891.hp2 HG02055.hp1 HG02280.hp1 HG02280.hp2 HG02647.hp1 HG03239.hp1 HG03579.hp2 NA18612.hp1 NA18944.hp1 NA18969.hp1 NA18969.hp2 NA18978.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0013 a0001c0017 others(3): Show a0001c0002 a0001c0013 a0001c0017 a0001c0031 a0001c0040 a0002c0003	a0001c0002t0004 a0001c0002t0007 a0001c0002t0018 others(7): Show a0001c0002t0004 a0001c0002t0007 a0001c0002t0018 a0001c0002t0039 a0001c0013t0004 a0001c0017t0058 a0001c0031t0007 a0001c0040t0037 a0002c0003t0007 a0002c0003t0025	a0001c0002t0004g0041 a0001c0002t0007g0110 a0001c0002t0007g0237 others(12): Show a0001c0002t0004g0041 a0001c0002t0007g0110 a0001c0002t0007g0237 a0001c0002t0007g0253 a0001c0002t0018g0005 a0001c0002t0039g0212 a0001c0013t0004g0035 a0001c0013t0004g0083 a0001c0013t0004g0084 a0001c0017t0058g0053 a0001c0031t0007g0160 a0001c0040t0037g0078 a0002c0003t0007g0185 a0002c0003t0007g0186 a0002c0003t0025g0241	15	254	0.0591	-54	c.299 others(73): Show c.2991+1425_2991+1478delGTGCACAGTAATTCAGTGCAGCACGT GCAGCTTCTCAGCAGGGTCCATCACCAC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112864348	ATGCAGCT others(47): Show ATGCAGCTTCCCAGCGGGGATCATCACCACGTGCGCCATAATTCAGCGTA GCGCG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG00642.hp2 others(49): Show HG00609.hp1 HG00639.hp1 HG00642.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01358.hp2 HG01934.hp2 HG01952.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02738.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG06807.hp1 NA18906.hp1 NA18942.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18971.hp1 NA18974.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19081.hp2 NA19084.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0013	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0001c0026 a0002c0003 a0002c0049 a0003c0007 a0003c0008 a0005c0018 a0013c0033	a0001c0001t0001 a0001c0001t0021 a0001c0001t0022 others(24): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0022 a0001c0001t0064 a0001c0001t0067 a0001c0001t0072 a0001c0002t0001 a0001c0002t0006 a0001c0002t0013 a0001c0002t0018 a0001c0002t0032 a0001c0004t0006 a0001c0004t0028 a0001c0004t0029 a0001c0005t0001 a0001c0006t0001 a0001c0006t0056 a0001c0011t0001 a0001c0026t0001 a0002c0003t0001 a0002c0049t0008 a0003c0007t0005 a0003c0007t0011 a0003c0008t0001 a0003c0008t0011 a0005c0018t0001 a0013c0033t0001	a0001c0001t0001g0024 a0001c0001t0001g0065 a0001c0001t0001g0085 others(49): Show a0001c0001t0001g0024 a0001c0001t0001g0065 a0001c0001t0001g0085 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0210 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0244 a0001c0001t0021g0092 a0001c0001t0021g0240 a0001c0001t0022g0202 a0001c0001t0064g0220 a0001c0001t0067g0093 a0001c0001t0072g0006 a0001c0002t0001g0032 a0001c0002t0006g0014 a0001c0002t0013g0111 a0001c0002t0013g0117 a0001c0002t0013g0211 a0001c0002t0018g0189 a0001c0002t0032g0179 a0001c0004t0006g0058 a0001c0004t0006g0061 a0001c0004t0006g0109 a0001c0004t0006g0123 a0001c0004t0006g0132 a0001c0004t0006g0203 a0001c0004t0006g0228 a0001c0004t0028g0246 a0001c0004t0029g0060 a0001c0005t0001g0086 a0001c0006t0001g0007 a0001c0006t0001g0077 a0001c0006t0001g0134 a0001c0006t0001g0145 a0001c0006t0001g0194 a0001c0006t0056g0162 a0001c0011t0001g0013 a0001c0026t0001g0067 a0002c0003t0001g0236 a0002c0049t0008g0165 a0003c0007t0005g0001 a0003c0007t0011g0025 a0003c0007t0011g0105 a0003c0008t0001g0010 a0003c0008t0011g0020 a0005c0018t0001g0009 a0005c0018t0001g0168 a0013c0033t0001g0166	52	254	0.2047	-54	c.299 others(73): Show c.2991+1791_2991+1844delGATCATCACCACGTGCGCCATAATTC AGCGTAGCGCGTGCAGCTTCCCAGCGGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112864456	ATGCAGCT others(47): Show ATGCAGCTTCCCAGCGGGGTCCATCACCACATGCACAGTAATTCAGTGCA GCCCG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	254	0.0039	-54	c.299 others(73): Show c.2991+1911_2991+1964delATGCACAGTAATTCAGTGCAGCCCGT GCAGCTTCCCAGCGGGGTCCATCACCAC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112864995	CCGCGCAG others(47): Show CCGCGCAGCTTCCCAGTGGGGACCATCACCACGTGCGCAATAATTCAGCG TAGCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00558.hp2 others(4): Show HG00099.hp2 HG00544.hp2 HG00558.hp2 HG00733.hp1 HG02132.hp2 NA18995.hp2 NA19010.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0048 a0006c0036 a0001c0001 a0003c0048 a0006c0036	a0001c0001t0001 a0001c0001t0010 a0001c0001t0055 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0055 a0001c0001t0060 a0003c0048t0001 a0006c0036t0001	a0001c0001t0001g0225 a0001c0001t0010g0002 a0001c0001t0010g0004 others(4): Show a0001c0001t0001g0225 a0001c0001t0010g0002 a0001c0001t0010g0004 a0001c0001t0055g0161 a0001c0001t0060g0138 a0003c0048t0001g0038 a0006c0036t0001g0187	7	254	0.0276	-54	c.299 others(73): Show c.2991+2423_2991+2476delCGCAGCTTCCCAGTGGGGACCATCAC CACGTGCGCAATAATTCAGCGTAGCACG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112865301	CGCAGTAA others(47): Show CGCAGTAATTCAGTGCAGCCCGTGCAGCTTCCCAGCGGGGTCCATCACCA CATGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0094 a0001c0005t0002g0094	1	254	0.0039	-54	c.299 others(73): Show c.2991+2744_2991+2797delCCCGTGCAGCTTCCCAGCGGGGTCCA TCACCACATGTGCAGTAATTCAGTGCAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP5ME_chr4_667436_679276	669338	TTCCCCTA others(47): Show TTCCCCTACCCCATGCTATTCCCACTACCCCATGCTATTCCCCTACCCCA TGCTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02622.hp1 HG01891.hp2 HG02109.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	3	394	0.0076	-54	c.31 others(65): Show c.3108_*3161delTAGCATGGGGTAGGGGAATAGCATGGGGTAGTGG GAATAGCATGGGGTAGGGGA	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		3097		chr4	TogoVar
ATP6V0A2_chr12_123707353_123766755	123731563	TCCTGGGC others(47): Show TCCTGGGCTCAAACGATCCTCCTGCCTCTGCCCAGCAAAGTGTTGGGATT ACAGG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01256.hp2 HG02257.hp2 others(7): Show HG01109.hp2 HG01256.hp2 HG02257.hp2 HG02258.hp1 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03579.hp2 HG03942.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0029 a0001c0001t0005 a0001c0001t0029	a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0041 others(7): Show a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0045 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0029g0040	10	222	0.0451	-54	c.649 others(71): Show c.649-2336_649-2283delCTGCCCAGCAAAGTGTTGGGATTACAGG CCTGGGCTCAAACGATCCTCCTGCCT	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145197	AAGAAAGA others(47): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGA GAGAG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0114	1	360	0.0028	-54	c.639 others(71): Show c.639+2247_639+2300delAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAGAGAGAGAGAGAGAGAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145201	AAGAAAGA others(47): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGA GAGAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02129.hp2 HG03209.hp1 HG02055.hp1 HG02129.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0002g0182 a0001c0001t0002g0304 a0001c0001t0001g0008 a0001c0001t0002g0182 a0001c0001t0002g0304	3	360	0.0083	-54	c.639 others(71): Show c.639+2283_639+2336delGAGAGAGAGAGAGAGAGAGAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546465	TATATATA others(47): Show TATATATATGTGTATATATATATATATATATATATATATATATATATGTA TATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	410	0.0024	-54	c.-46 others(65): Show c.-4676_-4623delGTATATACATATATATATATATATATATATATAT ATATATATACACATATATAT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		3889		chr2	TogoVar
ATP9B_chr18_79064394_79383283	79327873	CATGGATA others(47): Show CATGGATAGTGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGGTAGCGTGC TCTCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01952.hp2 HG01981.hp1 others(3): Show HG01081.hp1 HG01952.hp2 HG01981.hp1 HG02630.hp2 HG02922.hp2 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0010 a0001c0004t0002 a0002c0002t0004 a0001c0001t0010 a0001c0004t0002 a0002c0002t0004	a0001c0001t0010g0005 a0001c0001t0010g0050 a0001c0004t0002g0095 others(3): Show a0001c0001t0010g0005 a0001c0001t0010g0050 a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 a0002c0002t0004g0258	6	298	0.0201	-54	c.177 others(73): Show c.1774-1267_1774-1214delATGGATAGTGTGCTCTCCGTGGTTAG CGTGCTCTCCGTGGGTAGCGTGCTCTCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29			chr18	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(47): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGT	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02647.hp1 HG04199.hp2 others(3): Show HG02300.hp2 HG02647.hp1 HG04199.hp2 NA19030.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0002g0066 a0002c0002t0001g0190 a0002c0002t0001g0238 others(3): Show a0001c0001t0002g0066 a0002c0002t0001g0190 a0002c0002t0001g0238 a0002c0002t0002g0086 a0002c0002t0002g0119 a0003c0003t0001g0230	6	446	0.0135	-54	c.287 others(69): Show c.287+685_287+738delACACACACACACACACACACACACACACAC ACACACACACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
B3GAT1_chr11_134373508_134417242	134417138	GCAGACAT others(47): Show GCAGACATCCTAGACCTTTGGGTATTAGTAGAGCATCTGCAGAAAGGACT CCTTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	352	0.0028	-54	c.-56 others(65): Show c.-5667_-5614delTAAGGAGTCCTTTCTGCAGATGCTCTACTAATAC CCAAAGGTCTAGGATGTCTG	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding		4897		chr11	TogoVar
B3GNTL1_chr17_82937149_83056770	82962439	TCTCACAC others(47): Show TCTCACACGGGTGATTTAGGGTGGAGGGTCCCGCGGGTGCTGGTGGACAC GGACC	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	266	0.0038	-54	c.556 others(71): Show c.556-1312_556-1259delGGTCCGTGTCCACCAGCACCCGCGGGAC CCTCCACCCTAAATCACCCGTGTGAG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	7/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82962466	GTCCCGCG others(47): Show GTCCCGCGGGTGCTGGTGGACACGGACCCTCACACGGGTGATTTAGGGTG GAGGC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02273.hp1 HG00733.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0009 a0001c0006t0006 a0001c0001t0009 a0001c0006t0006	a0001c0001t0009g0246 a0001c0006t0006g0047 a0001c0001t0009g0246 a0001c0006t0006g0047	2	266	0.0075	-54	c.556 others(71): Show c.556-1339_556-1286delGCCTCCACCCTAAATCACCCGTGTGAGG GTCCGTGTCCACCAGCACCCGCGGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	7/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83032385	GCTCGGGA others(47): Show GCTCGGGAGCTGAACAACCAGGTCAGACCAGGCCAGGCCTCCGACGCAGA CCGAA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18986.hp1 NA19000.hp2 NA18951.hp2 NA18986.hp1 NA19000.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0003 a0002c0010 a0007c0018 a0001c0003 a0002c0010 a0007c0018	a0001c0003t0009 a0002c0010t0007 a0007c0018t0005 a0001c0003t0009 a0002c0010t0007 a0007c0018t0005	a0001c0003t0009g0204 a0002c0010t0007g0205 a0007c0018t0005g0196 a0001c0003t0009g0204 a0002c0010t0007g0205 a0007c0018t0005g0196	3	266	0.0113	-54	c.297 others(71): Show c.297+2596_297+2649delTTCGGTCTGCGTCGGAGGCCTGGCCTGG TCTGACCTGGTTGTTCAGCTCCCGAG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BAG3_chr10_119646380_119682819	119682510	AGGAGAAG others(47): Show AGGAGAAGAAATTCTGCCTCAAGACTACAGCATCTGCCCTGGCTGAGTTT CTAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	420	0.0024	-54	c.52 others(65): Show c.5229_*5282delGGAGAAGAAATTCTGCCTCAAGACTACAGCATCT GCCCTGGCTGAGTTTCTAGC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding		4692		chr10	TogoVar
BANP_chr16_87946434_88082316	87948193	CAGGCTCA others(47): Show CAGGCTCAGCGTTCCAGCATTCCACTCGGCCTCCTGGGCTTTTCCTGGGC CACCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00438.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18965.hp1 NA18966.hp2 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18988.hp2 NA18999.hp2 NA19000.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19077.hp2 NA19080.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(23): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0014 a0001c0016 a0001c0020 a0001c0023 a0001c0028 a0001c0031 a0001c0032 a0001c0033 a0002c0003 a0002c0013 a0002c0015 a0002c0018 a0002c0021 a0002c0024 a0002c0029 a0003c0025	a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 others(32): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 a0001c0002t0002 a0001c0002t0008 a0001c0004t0004 a0001c0004t0012 a0001c0005t0003 a0001c0005t0005 a0001c0006t0002 a0001c0007t0001 a0001c0007t0005 a0001c0008t0001 a0001c0008t0004 a0001c0009t0005 a0001c0010t0007 a0001c0012t0001 a0001c0014t0001 a0001c0016t0003 a0001c0020t0007 a0001c0023t0005 a0001c0028t0007 a0001c0031t0001 a0001c0032t0001 a0001c0033t0005 a0002c0003t0003 a0002c0003t0009 a0002c0003t0010 a0002c0013t0001 a0002c0015t0002 a0002c0018t0016 a0002c0021t0003 a0002c0024t0003 a0002c0029t0015 a0003c0025t0003	a0001c0001t0001g0106 a0001c0001t0001g0191 a0001c0001t0001g0192 others(155): Show a0001c0001t0001g0106 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0005g0253 a0001c0001t0014g0193 a0001c0002t0002g0013 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0037 a0001c0002t0002g0044 a0001c0002t0002g0066 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0074 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0008g0003 a0001c0002t0008g0010 a0001c0002t0008g0036 a0001c0002t0008g0043 a0001c0004t0004g0060 a0001c0004t0004g0061 a0001c0004t0004g0062 a0001c0004t0004g0125 a0001c0004t0004g0126 a0001c0004t0004g0129 a0001c0004t0004g0130 a0001c0004t0004g0136 a0001c0004t0004g0137 a0001c0004t0004g0138 a0001c0004t0004g0139 a0001c0004t0004g0142 a0001c0004t0004g0143 a0001c0004t0004g0144 a0001c0004t0004g0145 a0001c0004t0004g0148 a0001c0004t0004g0153 a0001c0004t0004g0167 a0001c0004t0004g0349 a0001c0004t0012g0135 a0001c0004t0012g0140 a0001c0005t0003g0002 a0001c0005t0003g0225 a0001c0005t0003g0286 a0001c0005t0003g0295 a0001c0005t0003g0296 a0001c0005t0003g0298 a0001c0005t0003g0299 a0001c0005t0003g0300 a0001c0005t0003g0301 a0001c0005t0003g0302 a0001c0005t0003g0303 a0001c0005t0003g0304 a0001c0005t0003g0307 a0001c0005t0003g0309 a0001c0005t0003g0311 a0001c0005t0003g0312 a0001c0005t0005g0064 a0001c0006t0002g0001 a0001c0006t0002g0005 a0001c0006t0002g0071 a0001c0006t0002g0073 a0001c0006t0002g0077 a0001c0006t0002g0078 a0001c0006t0002g0079 a0001c0006t0002g0083 a0001c0006t0002g0128 a0001c0006t0002g0280 a0001c0006t0002g0281 a0001c0006t0002g0337 a0001c0007t0001g0093 a0001c0007t0001g0094 a0001c0007t0001g0339 a0001c0007t0005g0088 a0001c0008t0001g0163 a0001c0008t0001g0164 a0001c0008t0001g0165 a0001c0008t0001g0275 a0001c0008t0001g0347 a0001c0008t0004g0146 a0001c0009t0005g0096 a0001c0009t0005g0097 a0001c0009t0005g0098 a0001c0009t0005g0099 a0001c0009t0005g0100 a0001c0009t0005g0102 a0001c0009t0005g0103 a0001c0009t0005g0104 a0001c0009t0005g0105 a0001c0010t0007g0127 a0001c0010t0007g0156 a0001c0010t0007g0158 a0001c0010t0007g0159 a0001c0012t0001g0011 a0001c0014t0001g0092 a0001c0014t0001g0095 a0001c0016t0003g0068 a0001c0020t0007g0141 a0001c0020t0007g0147 a0001c0023t0005g0289 a0001c0028t0007g0090 a0001c0031t0001g0084 a0001c0032t0001g0162 a0001c0033t0005g0107 a0002c0003t0003g0007 a0002c0003t0003g0050 a0002c0003t0003g0278 a0002c0003t0003g0283 a0002c0003t0003g0287 a0002c0003t0003g0292 a0002c0003t0003g0293 a0002c0003t0003g0294 a0002c0003t0003g0313 a0002c0003t0003g0314 a0002c0003t0003g0315 a0002c0003t0003g0316 a0002c0003t0003g0317 a0002c0003t0003g0318 a0002c0003t0003g0322 a0002c0003t0003g0325 a0002c0003t0003g0326 a0002c0003t0003g0327 a0002c0003t0003g0331 a0002c0003t0003g0334 a0002c0003t0003g0335 a0002c0003t0003g0336 a0002c0003t0003g0338 a0002c0003t0009g0290 a0002c0003t0009g0291 a0002c0003t0009g0319 a0002c0003t0009g0320 a0002c0003t0009g0323 a0002c0003t0010g0274 a0002c0003t0010g0285 a0002c0003t0010g0332 a0002c0003t0010g0333 a0002c0013t0001g0169 a0002c0013t0001g0170 a0002c0013t0001g0172 a0002c0015t0002g0065 a0002c0018t0016g0134 a0002c0021t0003g0340 a0002c0024t0003g0171 a0002c0029t0015g0087 a0003c0025t0003g0310	161	352	0.4574	-54	c.-33 others(65): Show c.-3390_-3337delAGGCTCAGCGTTCCAGCATTCCACTCGGCCTCCT GGGCTTTTCCTGGGCCACCG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding		3240		chr16	TogoVar
BCL11A_chr2_60452194_60558654	60467366	GTGGTGAT others(47): Show GTGGTGATGATGGTGATGGTACTGGTGGTGATGGTGATGGTGATGGTACT GGTGA	G G	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19068.hp2 NA19065.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0052 a0001c0001t0051 a0001c0001t0052	a0001c0001t0051g0159 a0001c0001t0052g0166 a0001c0001t0051g0159 a0001c0001t0052g0166	2	262	0.0076	-54	c.487 others(71): Show c.487+1312_487+1365delTCACCAGTACCATCACCATCACCATCAC CACCAGTACCATCACCATCATCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467768	GTGGAGAT others(47): Show GTGGAGATGGTGGTGTTGATGGTGATGGTACTGGTGGTGATGGTACTGGT GGTGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp2 HG01243.hp2 others(10): Show HG00099.hp1 HG01074.hp2 HG01243.hp2 HG02135.hp2 HG02145.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG03471.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 others(9): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0032 a0001c0001t0037 a0001c0001t0038 a0001c0001t0054 a0001c0001t0064 a0001c0001t0065 a0001c0002t0001	a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0010g0057 others(10): Show a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0010g0057 a0001c0001t0015g0185 a0001c0001t0019g0012 a0001c0001t0021g0093 a0001c0001t0032g0037 a0001c0001t0037g0068 a0001c0001t0038g0069 a0001c0001t0054g0194 a0001c0001t0064g0247 a0001c0001t0065g0251 a0001c0002t0001g0061	13	262	0.0496	-54	c.487 others(69): Show c.487+910_487+963delTCACCACCAGTACCATCACCACCAGTACCA TCACCATCAACACCACCATCTCCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60507325	AAGGGAAG others(47): Show AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03453.hp1 HG02809.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0037 a0001c0001t0010 a0001c0001t0037	a0001c0001t0010g0015 a0001c0001t0037g0068 a0001c0001t0010g0015 a0001c0001t0037g0068	2	262	0.0076	-54	c.386 others(73): Show c.386-38546_386-38493delCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCOR_chrX_40046251_40102958	40046522	TTATATAT others(47): Show TTATATATATAAATATATATATATATATGTATATATATATATATATATAT ATATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 NA19240.hp1 HG03195.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0109 a0001c0001t0003g0001 a0001c0001t0003g0109	2	257	0.0078	-54	c.55 others(65): Show c.5533_*5586delCATATATATATATATATATATATATACATATATA TATATATATTTATATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4728		chrX	TogoVar
BEND3_chr6_107060182_107120515	107073197	GTATGTAT others(47): Show GTATGTATATATATATATATATATATATATATATATATATATATATATAT ATATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02818.hp1 others(2): Show HG01891.hp1 HG02145.hp2 HG02818.hp1 HG03041.hp2 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0010 a0001c0001 a0001c0004 a0003c0010	a0001c0001t0004 a0001c0001t0023 a0001c0004t0048 others(1): Show a0001c0001t0004 a0001c0001t0023 a0001c0004t0048 a0003c0010t0002	a0001c0001t0004g0073 a0001c0001t0004g0231 a0001c0001t0023g0233 others(2): Show a0001c0001t0004g0073 a0001c0001t0004g0231 a0001c0001t0023g0233 a0001c0004t0048g0006 a0003c0010t0002g0184	5	368	0.0136	-54	c.241 others(71): Show c.241-2301_241-2248delTATATATATATATATATATATATATATA TATATATATATATATATATATACATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar

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