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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SORCS2_chr4_7187538_7747827	7442266	CAGCCCAG others(138): Show CAGCCCAGATCACCCTCCACCCCCTCCCTGAGCCCAGATCACCCTCCACC CCCTCCCCCATCCCAGATCACCCTCTACCCCCTCTCCCAGCCCAGGTCGT CATCCACCTCCTCTCACAGCCCAGGTCACCATCCACCCCCTCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp2 HG03471.hp2 HG02615.hp2 HG02809.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0018 a0001c0002t0004 a0001c0005t0042 a0001c0001t0018 a0001c0002t0004 a0001c0005t0042	a0001c0001t0018g0099 a0001c0002t0004g0028 a0001c0005t0042g0157 a0001c0001t0018g0099 a0001c0002t0004g0028 a0001c0005t0042g0157	3	168	0.0179	-145	c.548 others(19): Show c.548+45939_548+46083del		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SRSF2_chr17_76729115_76742331	76732086	TGTGGCTC others(138): Show TGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCTGGTGGA TCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCC AGTCCCTACTAAAAAATACAAAATACTAGCCGAGTGGCTGGGCACG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01884.hp2 HG01891.hp1 others(11): Show HG01099.hp1 HG01884.hp2 HG01891.hp1 HG02145.hp2 HG02572.hp2 HG02622.hp1 HG02895.hp2 HG02970.hp1 HG03195.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0013 a0001c0002t0001g0003 a0001c0002t0001g0013	14	398	0.0352	-145	c.29 others(11): Show c.2935_*3079del		SRSF2	ENSG00000161547.17	transcript	ENST00000359995.10	protein_coding					2028		chr17	TogoVar
STK38L_chr12_27239286_27330959	27240977	TTATATAT others(138): Show TTATATATATTACATATATGACTGTATAGTTATATATATTACATATATGA CTATGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATATA TTACATATATGACTCTGTATAGTTATATATATTACATATATGACTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	374	0.0027	-145	c.-33 others(11): Show c.-3366_-3222del		STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding					3308		chr12	TogoVar
TCF12_chr15_56913644_57294853	57170633	TATATATA others(138): Show TATATATATAATATATATATTATATAAAATATATATATATATAATATATT ATATATAATATATATTATATATAATATATAATATATATATTATATATTAT ATATAATATATATTATATATTATATATTATATATATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp1 HG01123.hp2 others(7): Show HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG01257.hp2 HG01258.hp1 HG02004.hp2 HG03688.hp1 NA18972.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0234 a0001c0001t0002g0240 others(7): Show a0001c0001t0002g0115 a0001c0001t0002g0234 a0001c0001t0002g0240 a0001c0001t0002g0252 a0001c0001t0002g0261 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0295 a0001c0001t0002g0299	10	330	0.0303	-145	c.390 others(17): Show c.390+4177_390+4321del		TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	6/20					INFO_REALIGN_3_PRIME	chr15	TogoVar
THADA_chr2_43225851_43601038	43515207	AATATATA others(138): Show AATATATAATATATTATATATAATATATAATATATAATATATTATATATA ATATATAATATATAATATATAATATATTATATATAATATATAATATGTAA TATATAATATTTTATATATAATATATAATATAATATATAATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG01106.hp1 others(5): Show HG01074.hp2 HG01099.hp2 HG01106.hp1 HG02145.hp1 HG02258.hp1 HG02647.hp2 HG02970.hp2 NA19043.hp1	a0007 a0007	a0007c0007 a0007c0014 a0007c0007 a0007c0014	a0007c0007t0002 a0007c0014t0002 a0007c0007t0002 a0007c0014t0002	a0007c0007t0002g0003 a0007c0007t0002g0004 a0007c0007t0002g0005 others(5): Show a0007c0007t0002g0003 a0007c0007t0002g0004 a0007c0007t0002g0005 a0007c0007t0002g0006 a0007c0007t0002g0011 a0007c0014t0002g0007 a0007c0014t0002g0008 a0007c0014t0002g0009	8	206	0.0388	-145	c.337 others(19): Show c.3375-6572_3375-6428del		THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37						chr2	TogoVar
TNNI3_chr19_55146767_55162732	55147309	TCTGGACT others(138): Show TCTGGACTCCTGGGTGTGAGAGAGGAGGAGCTGGGGCCTGGACTCCTGGG TCTGAGGAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	388	0.0026	-145	c.43 others(11): Show c.4380_*4524del		TNNI3	ENSG00000129991.13	transcript	ENST00000344887.10	protein_coding					4457		chr19	TogoVar
TNNT1_chr19_55127698_55154206	55147309	TCTGGACT others(138): Show TCTGGACTCCTGGGTGTGAGAGAGGAGGAGCTGGGGCCTGGACTCCTGGG TCTGAGGAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGGGGC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	320	0.0031	-145	c.-11 others(15): Show c.-11-286_-11-142del		TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	1/13						chr19	TogoVar
TPO_chr2_1408463_1548673	1511227	AAAGCCCT others(138): Show AAAGCCCTGCAGACTGGGGGTGCCACAGCGCAGCCCTGCAGACTGGGGGT GCCACAGCGCAGCCCTGCAGACTGGGGGTGCCACAGCGCAGCCCTGCAGA CTGGGGGTGCCACAGCGCAGCCCTGCAGACTGGGGGTGCCACAGCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01071.hp2 HG00408.hp1 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0007 a0002c0002t0003 a0002c0002t0007	a0002c0002t0003g0063 a0002c0002t0007g0121 a0002c0002t0003g0063 a0002c0002t0007g0121	2	130	0.0154	-145	c.251 others(19): Show c.2519-5655_2519-5511del		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	14/16						chr2	TogoVar
TPO_chr2_1408463_1548673	1511228	AAGCCCTG others(138): Show AAGCCCTGCAGACTGGGGGTGCCACAGCGCAGCCCTGCAGACTGGGGGTG CCACAGCGCAGCCCTGCAGACTGGGGGTGCCACAGCGCAGCCCTGCAGAC TGGGGGTGCCACAGCGCAGCCCTGCAGACTGGGGGTGCCACAGCGC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19043.hp2 HG02630.hp1 NA19043.hp2	a0007 a0009 a0007 a0009	a0007c0026 a0009c0034 a0007c0026 a0009c0034	a0007c0026t0003 a0009c0034t0003 a0007c0026t0003 a0009c0034t0003	a0007c0026t0003g0052 a0009c0034t0003g0118 a0007c0026t0003g0052 a0009c0034t0003g0118	2	130	0.0154	-145	c.251 others(19): Show c.2519-5493_2519-5349del		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	14/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1531666	GTGCAATC others(138): Show GTGCAATCTCCCCAAATCCCGCCCACTCTTTGCAACCTCGCCAAATCCCC CCCACTCTCTGCAACCTCCCCAAATCACCCCCACTCTCTGTAACCTCCCC AAATCACCCCCACTCTCTGCAACCTCCCCAAATCACCCCCACTCTC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01167.hp2 others(15): Show HG01069.hp2 HG01071.hp2 HG01167.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 NA18962.hp2 NA19043.hp1 NA19043.hp2 NA19088.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0002c0002 a0002c0015 others(4): Show a0001c0001 a0002c0002 a0002c0015 a0007c0026 a0008c0011 a0008c0016 a0008c0028	a0001c0001t0003 a0002c0002t0003 a0002c0002t0006 others(5): Show a0001c0001t0003 a0002c0002t0003 a0002c0002t0006 a0002c0015t0003 a0007c0026t0003 a0008c0011t0006 a0008c0016t0003 a0008c0028t0003	a0001c0001t0003g0077 a0001c0001t0003g0128 a0002c0002t0003g0056 others(15): Show a0001c0001t0003g0077 a0001c0001t0003g0128 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0063 a0002c0002t0003g0074 a0002c0002t0003g0095 a0002c0002t0003g0127 a0002c0002t0006g0027 a0002c0015t0003g0111 a0007c0026t0003g0052 a0008c0011t0006g0048 a0008c0011t0006g0092 a0008c0016t0003g0020 a0008c0028t0003g0003	18	130	0.1385	-145	c.261 others(19): Show c.2619-8922_2619-8778del		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TPPP_chr5_654862_698352	667991	TGTGGGCG others(138): Show TGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACAGAGAGGGGGCCGTG TGGGCGCCGTCAGGGAAGTACCGACAAGCACACTGGAGAGGGGTCCGCGT GGGCCCCATCAGGGAAGTACCGACAAGCACACGGAGAGGGGTCCGC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0074 a0001c0001t0078g0074	1	409	0.0024	-145	c.312 others(17): Show c.312-2013_312-1869del		TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3						chr5	TogoVar
TSNARE1_chr8_142207080_142408182	142283282	CAGTGTCT others(138): Show CAGTGTCTGCCAATGAGCAGAGGCGGGGCCAGTGTCTGCCAATGAGCAGA GGCGGGGCCAGTGTCTGTCAATGAGCGGAGGTGGGGCCAGTGTCTGTCAA TGAGCAGAGGCGGGGTTAGTGTCTATCAATGAGCAGAGGCGGGGTT	C C	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	238	0.0042	-145	c.136 others(18): Show c.1363+986_1363+1130del		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	11/13						chr8	TogoVar
UBR5_chr8_102247273_102417700	102299243	CATTTTAC others(138): Show CATTTTACAAATCTCATCTGATTTCTAAATGTATGTACACAGACACCACA TATTTGCACTGACAGATGGAATGTAATTCAGAGAATTAGATGTTTTTCAA GCAAAGAACAGTCTCCTTGAGATAAAGTGTAGATCTGTAGAACCCT	C C	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18971.hp2 NA18956.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0113 a0001c0001t0001g0115	2	328	0.0061	-145	c.320 others(16): Show c.3202+64_3202+208del		UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	24/58						chr8	TogoVar
XG_chrX_2747040_2821500	2773692	AGAGAAGG others(138): Show AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG	A A	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	322	0.0031	-145	c.104 others(16): Show c.104-1023_104-879del		XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10						chrX	TogoVar
XXYLT1_chr3_195063284_195276159	195272801	AGGCAGTG others(138): Show AGGCAGTGTGGTGGCGGACACCTGCAATTCCAGCTACTCGAGAGGCTGAG GCAAGAGAATCGCTTGAACCTAGGAGGCAGAGGATGCAGTGAGCCGAGAT CATAACACTGCACTCCAGCCTGGGCGACAAGAGCAAAACCCTGTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02895.hp1 HG02897.hp2 HG02630.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010	a0001c0001t0003g0101 a0001c0001t0007g0105 a0001c0001t0010g0102 a0001c0001t0003g0101 a0001c0001t0007g0105 a0001c0001t0010g0102	3	198	0.0152	-145	c.-18 others(11): Show c.-1888_-1744del		XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding					1643		chr3	TogoVar
ZDHHC19_chr3_196192452_196216400	196207597	GCCCGCCC others(138): Show GCCCGCCCCTCAGGCCCGACTCCGCCCCGAGCCCCGCCCCGCCCCTGGCC CCGCCCCCAGGCCCGACTCCGCCCCGAGCCCCGCCCCGCCCCCGGACGCC CGCCCCTCAGGCCCGACTCCGCCCCGAGCCCCGCCCCGCCCCTGGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00741.hp1 others(12): Show HG00099.hp1 HG00280.hp2 HG00741.hp1 HG01243.hp2 HG01891.hp2 HG02055.hp1 HG02258.hp2 HG02300.hp1 HG02809.hp1 HG02970.hp1 HG03130.hp2 HG03453.hp2 HG03540.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014	a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0207 others(11): Show a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0279 a0001c0001t0002g0201 a0001c0001t0004g0045 a0001c0001t0004g0153 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0208 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0014g0206	15	442	0.0339	-145	c.582 others(14): Show c.582-239_582-95del		ZDHHC19	ENSG00000163958.14	transcript	ENST00000296326.8	protein_coding	4/7						chr3	TogoVar
ZNF511_chr10_133303914_133318161	133318016	CCCCCCCC others(138): Show CCCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCAGACACAG AGATGGAAAGACCACACCCCCCCCCAGACACAGAGATGGAAAGACCACAC ACCCCGCCCAGACACAGAGATGGAAAGACCACACCCCCCCCAGACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03209.hp1 HG02895.hp2 HG02897.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0004 a0001c0001t0001g0001 a0001c0002t0001g0004	3	282	0.0106	-145	c.51 others(11): Show c.5151_*5295del		ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding					4856		chr10	TogoVar
ABR_chr17_998519_1184981	1128788	ACGTTTTC others(137): Show ACGTTTTCACAAGCTGGGAGTCCAGGTCACTGAGGGCACAGTGGAGCCCA CCCCAGGAAGGTCTACCTCGGGACGTTTTCACAAGCTGGGAGTCCAGGTC ACTGAGGGCACAGTGGAGCCCACCCCAGGAAGGTCTACCTCGGGG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0301 a0001c0001t0090g0301	1	337	0.0030	-144	c.62- others(15): Show c.62-3565_62-3422del		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22						chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289453	CCGTGTCT others(137): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	295	0.0034	-144	c.39 others(11): Show c.3967_*4110del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2937		chr1	TogoVar
ADAMTS19_chr5_129455298_129743683	129578103	CATATGCA others(137): Show CATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATA TGTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTA CATATACCTATATGCATGTATATGTACGTATACGTACATATACCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00639.hp1 others(19): Show HG00423.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG01167.hp2 HG01261.hp2 HG01884.hp2 HG01891.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02622.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03098.hp1 HG03139.hp2 NA18983.hp1 NA19043.hp2 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0009 others(1): Show a0001c0001 a0001c0003 a0001c0009 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0003t0010 a0001c0009t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0021 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0199 a0001c0001t0002g0014 a0001c0001t0002g0180 a0001c0001t0010g0029 a0001c0003t0010g0202 a0001c0009t0001g0010 a0002c0004t0001g0094 a0002c0004t0001g0096	22	226	0.0974	-144	c.137 others(21): Show c.1373-18261_1373-18118del		ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADARB2_chr10_1172313_1742525	1239833	TACTCCCC others(137): Show TACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACT CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0058 a0002c0002t0008g0058	1	106	0.0094	-144	c.136 others(19): Show c.1361+2154_1361+2297del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1240126	CCCCTCTC others(137): Show CCCCTCTCCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0064 a0002c0002t0064	a0002c0002t0064g0100 a0002c0002t0064g0100	1	106	0.0094	-144	c.136 others(19): Show c.1361+1861_1361+2004del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113404570	GGTTCCTG others(137): Show GGTTCCTGTGCCTGCCCCTGGGCCTCTATCTGGGTCTGCCACTGGGCCTG TTCTTGAGCGTGTCCCTGAGCCTGTCCCTGGGCCCAATTCTGAAACTGTT TCTGGGCCTGTCCCTGACTGTGTCCCTGGGTCCCACCCTGAGCCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00621.hp1 HG00621.hp1	a0020 a0020	a0020c0057 a0020c0057	a0020c0057t0001 a0020c0057t0001	a0020c0057t0001g0016 a0020c0057t0001g0016	1	262	0.0038	-144	c.456 others(9): Show c.4568_4711del	p.Gln others(15): Show p.Gln1523_Glu1570del	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	4762/9722	4568/5904	1523/1967			chr13	TogoVar
AFF3_chr2_99540419_100147590	100037413	TTTATTTA others(137): Show TTTATTTATATATAAATATATATTTATATTTTATATATTATTTATATATA AATATATATTTATATTTTATATATTATTTATATATAAATATATATTTATA TTTTATATATTATTTATATATAAATATATATTTATATTTTATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00609.hp2 others(30): Show HG00099.hp2 HG00438.hp2 HG00609.hp2 HG00639.hp2 HG00738.hp1 HG01081.hp1 HG01106.hp2 HG01358.hp1 HG01358.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG03139.hp1 HG03139.hp2 HG03516.hp1 HG03540.hp2 HG03834.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18971.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0014 a0002c0002 a0004c0010 a0005c0011 a0006c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0034 a0001c0005t0001 a0001c0005t0003 a0001c0005t0009 a0001c0014t0004 a0002c0002t0002 a0002c0002t0018 a0002c0002t0035 a0004c0010t0005 a0005c0011t0009 a0006c0012t0032	a0001c0001t0001g0022 a0001c0001t0001g0062 a0001c0001t0001g0080 others(30): Show a0001c0001t0001g0022 a0001c0001t0001g0062 a0001c0001t0001g0080 a0001c0001t0003g0084 a0001c0001t0004g0050 a0001c0001t0004g0082 a0001c0001t0005g0075 a0001c0001t0006g0076 a0001c0001t0007g0078 a0001c0001t0008g0009 a0001c0001t0012g0008 a0001c0001t0015g0002 a0001c0001t0017g0010 a0001c0001t0028g0061 a0001c0001t0030g0077 a0001c0001t0031g0049 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0002g0064 a0001c0003t0006g0063 a0001c0003t0006g0089 a0001c0003t0034g0072 a0001c0005t0001g0070 a0001c0005t0003g0071 a0001c0005t0009g0016 a0001c0014t0004g0099 a0002c0002t0002g0031 a0002c0002t0018g0015 a0002c0002t0035g0087 a0004c0010t0005g0074 a0005c0011t0009g0012 a0006c0012t0032g0090	33	100	0.3300	-144	c.54- others(17): Show c.54-28625_54-28482del		AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	4/24						chr2	TogoVar
AGBL4_chr1_48527854_50028954	49618345	TATAATCC others(137): Show TATAATCCTTTGGGTATATGCTCAGTAATGGGATAAATTCCTGGACACAA ACACCCTCCCAAGACTAAACCAGGAAGAAGTCGAATCCCTAAATAGACCA ATAACAAATTCTGAAATTGAGGCAGTAATTAATAGCCTACTAACC	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03710.hp2 HG02698.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0092 a0001c0001t0013g0090 a0001c0001t0003g0092 a0001c0001t0013g0090	2	104	0.0192	-144	c.282 others(19): Show c.282+78824_282+78967del		AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/13						chr1	TogoVar
AGMO_chr7_15195317_15567015	15322477	TATATATA others(137): Show TATATATATAAATATATATAAATATATAAATATATATATAAATATATATA AATATATAAATATATATATAAATATATATAAATATATAAATATATATAAA TATATATAAATATATAAATATATATAAATATATATAAATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03041.hp1 HG03209.hp2 HG01891.hp1 HG03041.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0218 a0002c0002t0001g0021 a0002c0002t0001g0022 a0001c0001t0001g0218 a0002c0002t0001g0021 a0002c0002t0001g0022	3	236	0.0127	-144	c.126 others(21): Show c.1263+42893_1263+43036del		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12						chr7	TogoVar
AGMO_chr7_15195317_15567015	15354311	CACGCGTG others(137): Show CACGCGTGTATATACGTACGCGTGTATATACACGCGTGTATATAGACGTG TGTATATAGACGTGTGTATACACGTGTGTGTATACACGTGTGTGTACACA CGTGTGTGTATACACACACGTGTGTGTATACACACGTGTGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG02451.hp2 others(7): Show HG00639.hp2 HG01243.hp2 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02717.hp2 HG02922.hp1 NA18522.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0007t0001 a0001c0007t0003	a0001c0001t0001g0075 a0001c0001t0001g0173 a0001c0001t0001g0179 others(7): Show a0001c0001t0001g0075 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0003t0001g0034 a0001c0003t0001g0041 a0001c0003t0001g0189 a0001c0003t0002g0188 a0001c0007t0001g0015 a0001c0007t0001g0016 a0001c0007t0003g0014	10	236	0.0424	-144	c.126 others(21): Show c.1263+11059_1263+11202del		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12						chr7	TogoVar
AGMO_chr7_15195317_15567015	15354352	ATAGACGT others(137): Show ATAGACGTGTGTATATAGACGTGTGTATACACGTGTGTGTATACACGTGT GTGTACACACGTGTGTGTATACACACACGTGTGTGTATACACACGTGTGT GTATACACACGTGTGTGTATACACACGTGTGTATATACACACGTG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	236	0.0042	-144	c.126 others(21): Show c.1263+11018_1263+11161del		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12						chr7	TogoVar
AGMO_chr7_15195317_15567015	15354376	GTATACAC others(137): Show GTATACACGTGTGTGTATACACGTGTGTGTACACACGTGTGTGTATACAC ACACGTGTGTGTATACACACGTGTGTGTATACACACGTGTGTGTATACAC ACGTGTGTATATACACACGTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	236	0.0042	-144	c.126 others(21): Show c.1263+10994_1263+11137del		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12						chr7	TogoVar
AHRR_chr5_316714_443285	343248	CGGGGTGA others(137): Show CGGGGTGACAGGAACACGGGACCCCACATACCTTTTCGGGGTGACGTGAA CACAGAACCCCACATACCCTCTCAGGGGTGACAGGAACGTGGGACCCCAC GTACCTTCTCGGGGTGATGGGAACACGGGACCCGCGTACCCTCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01081.hp1 HG01109.hp1 others(12): Show HG00280.hp1 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG02004.hp2 HG02683.hp2 HG04204.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0029 a0002c0002t0001 a0002c0002t0006 others(4): Show a0001c0001t0029 a0002c0002t0001 a0002c0002t0006 a0002c0002t0019 a0003c0004t0004 a0003c0004t0012 a0003c0004t0028	a0001c0001t0029g0012 a0001c0001t0029g0013 a0002c0002t0001g0010 others(10): Show a0001c0001t0029g0012 a0001c0001t0029g0013 a0002c0002t0001g0010 a0002c0002t0006g0008 a0002c0002t0019g0007 a0003c0004t0004g0002 a0003c0004t0004g0003 a0003c0004t0004g0004 a0003c0004t0004g0009 a0003c0004t0004g0011 a0003c0004t0004g0014 a0003c0004t0012g0001 a0003c0004t0028g0217	15	268	0.0560	-144	c.-10 others(15): Show c.-10-640_-10-497del		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
ANO9_chr11_412938_447011	421376	ACACACAC others(137): Show ACACACACACACACACAGGGGAGGCCACAGGCTCCCAGATGAACCGCACC CACACGTGGGCGCGCGCACACACACACACACCCCCACACAGGGGAGGCCA CAGGCTCCCAGACGAACCGCACCTGCACGTGGGCGCACACACACC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02055.hp1 others(5): Show HG01109.hp1 HG01243.hp1 HG02055.hp1 HG02257.hp1 HG02895.hp2 HG02897.hp1 NA19043.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0082 a0001c0001t0001g0193 a0001c0001t0001g0249 others(5): Show a0001c0001t0001g0082 a0001c0001t0001g0193 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0272 a0001c0001t0003g0009 a0002c0002t0001g0055	8	286	0.0280	-144	c.133 others(17): Show c.1335-322_1335-179del		ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	15/22						chr11	TogoVar
ANO9_chr11_412938_447011	425130	CGTGGAGA others(137): Show CGTGGAGAGACGGGACGCGCGGGAGGAAAAGGCGGCGTGGAGAGACGGGA CGCGCGGGAGGAAAAGGCGGCGTGGAGCGACGGGACGCGCGGGAGGAAAA GGCGGCGTGGAGAGACGGGACGCGCGGGAGCAAAAGGCGGCGTGG	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01255.hp2 HG01071.hp2 HG01255.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0019 a0001c0001 a0006c0019	a0001c0001t0001 a0006c0019t0001 a0001c0001t0001 a0006c0019t0001	a0001c0001t0001g0152 a0006c0019t0001g0142 a0001c0001t0001g0152 a0006c0019t0001g0142	2	286	0.0070	-144	c.133 others(19): Show c.1334+2814_1334+2957del		ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	15/22						chr11	TogoVar
ARHGAP21_chr10_24578614_24728887	24656794	GGGGGTCG others(137): Show GGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0200 a0003c0003t0001g0200	1	352	0.0028	-144	c.268 others(19): Show c.268+10047_268+10190del		ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25						chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144612122	AGTGAGCC others(137): Show AGTGAGCCACGGCTGCGCCGCTGCACTCCAGCCAGGGCGACAGAGTGAGG TGAGCCACGGCTGCGCCGCTGCACTCCAGCCAGGGCGACAGAGTGAGGTG AGCCACGGCTGCGCCGCTGCACACCAGCCAGGGCGACAGAGTGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00639.hp1 others(28): Show HG00280.hp1 HG00408.hp2 HG00639.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01952.hp1 HG02055.hp2 HG02148.hp1 HG02258.hp1 HG02300.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG06807.hp2 NA18906.hp1 NA18962.hp1 NA19043.hp1 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0010 a0001c0014 a0001c0017 a0003c0011 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0018 a0001c0001t0021 a0001c0002t0001 a0001c0003t0001 a0001c0003t0009 a0001c0005t0001 a0001c0005t0010 a0001c0007t0017 a0001c0010t0001 a0001c0014t0007 a0001c0017t0001 a0003c0011t0001 a0004c0009t0001	a0001c0001t0001g0024 a0001c0001t0001g0151 a0001c0001t0001g0228 others(28): Show a0001c0001t0001g0024 a0001c0001t0001g0151 a0001c0001t0001g0228 a0001c0001t0003g0023 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0158 a0001c0001t0004g0237 a0001c0001t0007g0239 a0001c0001t0018g0022 a0001c0001t0021g0062 a0001c0002t0001g0025 a0001c0003t0001g0005 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0110 a0001c0003t0009g0004 a0001c0005t0001g0006 a0001c0005t0001g0010 a0001c0005t0001g0011 a0001c0005t0010g0001 a0001c0007t0017g0019 a0001c0010t0001g0009 a0001c0014t0007g0240 a0001c0017t0001g0064 a0003c0011t0001g0072 a0004c0009t0001g0008	31	246	0.1260	-144	c.-81 others(17): Show c.-81-6571_-81-6428del		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11						chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144686918	ACACTGGC others(137): Show ACACTGGCGGCGACCATTTCCCACCCCTGTGACCACGCACTGGCGGCGAG CACTTCCCACCCCCGTGACCACACACTGGCGGCGACCATTTCCCACCCCC GTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	246	0.0041	-144	c.-14 others(11): Show c.-1458_-1315del		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding					1073		chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1841820	GGGAACTG others(137): Show GGGAACTGGGGCCGCGACGGGAACTGGGGCCGCGGCGGGAACTGGGGCCG CGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGG GCCGCGGCGGGAACTGGGGCCGCGACCGGAACTGGGGCCGCGACC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19030.hp2 HG03486.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0068 a0001c0005t0016 a0001c0003t0068 a0001c0005t0016	a0001c0003t0068g0338 a0001c0005t0016g0101 a0001c0003t0068g0338 a0001c0005t0016g0101	2	363	0.0055	-144	c.-47 others(17): Show c.-47-1517_-47-1374del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1841836	ACGGGAAC others(137): Show ACGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGC CGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTG GGGCCGCGACCGGAACTGGGGCCGCGACCGGAACTGGGGCCGCGG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0008 a0008	a0008c0049 a0008c0049	a0008c0049t0006 a0008c0049t0006	a0008c0049t0006g0001 a0008c0049t0006g0001	2	363	0.0055	-144	c.-47 others(17): Show c.-47-1408_-47-1265del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7362017	GAGAAGGA others(137): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0014 a0001c0001t0017g0014	1	298	0.0034	-144	c.-11 others(17): Show c.-110-752_-110-609del		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7367769	ATATACAC others(137): Show ATATACACATATATATATTTTATATATATATACACATATATATATTTTAT ATATATATACACATATATATATTTTATATATATATATACACATATATATT TTTATATATATATATTTTATATATATTTTTTATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp1 HG01123.hp1 others(10): Show HG01099.hp2 HG01106.hp1 HG01123.hp1 HG02145.hp2 HG02451.hp1 HG02630.hp2 HG02717.hp2 HG02922.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG06807.hp1 NA18522.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0011	a0001c0001 a0001c0043 a0001c0047 others(4): Show a0001c0001 a0001c0043 a0001c0047 a0002c0004 a0002c0007 a0007c0014 a0011c0025	a0001c0001t0002 a0001c0001t0004 a0001c0001t0030 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0030 a0001c0043t0015 a0001c0047t0002 a0002c0004t0002 a0002c0007t0001 a0007c0014t0004 a0011c0025t0005	a0001c0001t0002g0047 a0001c0001t0002g0252 a0001c0001t0004g0004 others(10): Show a0001c0001t0002g0047 a0001c0001t0002g0252 a0001c0001t0004g0004 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0030g0008 a0001c0043t0015g0278 a0001c0047t0002g0005 a0002c0004t0002g0050 a0002c0004t0002g0251 a0002c0007t0001g0011 a0007c0014t0004g0051 a0011c0025t0005g0013	13	298	0.0436	-144	c.15+ others(15): Show c.15+4869_16-4895del		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
ASAP1_chr8_130047104_130448674	130049429	CACATGGG others(137): Show CACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGG GCAGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGG GAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	308	0.0033	-144	c.51 others(11): Show c.5158_*5301del		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2674		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049558	GGGGGCAG others(137): Show GGGGGCAGAGGGGAATACATGGGGGGCAGAGGGGAACACATGGAGGGCAG AGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAAC ACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	308	0.0033	-144	c.50 others(11): Show c.5029_*5172del		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2545		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049774	GGGGAACA others(137): Show GGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACA CATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGC AGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG06807.hp1 HG03041.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0243 a0001c0001t0001g0167 a0001c0001t0001g0243	2	308	0.0065	-144	c.48 others(11): Show c.4813_*4956del		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2329		chr8	TogoVar
ATP10A_chr15_25673712_25868327	25757885	CCTAACTC others(137): Show CCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA19068.hp2 HG02896.hp1 NA19068.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0006 a0002c0002 a0008c0006	a0002c0002t0002 a0008c0006t0001 a0002c0002t0002 a0008c0006t0001	a0002c0002t0002g0285 a0008c0006t0001g0204 a0002c0002t0002g0285 a0008c0006t0001g0204	2	300	0.0067	-144	c.655 others(19): Show c.655-21888_655-21745del		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758389	CCTAACTC others(137): Show CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0180 a0008c0006t0001g0180	1	300	0.0033	-144	c.655 others(19): Show c.655-22392_655-22249del		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP9B_chr18_79064394_79383283	79308929	AGGAGTGA others(137): Show AGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCA GCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAGGTAGAAGGTC AGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp2 HG02922.hp1 others(4): Show HG01243.hp1 HG02257.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 NA18522.hp1 NA19030.hp1	a0003 a0010 a0003 a0010	a0003c0007 a0010c0029 a0003c0007 a0010c0029	a0003c0007t0004 a0010c0029t0004 a0003c0007t0004 a0010c0029t0004	a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 others(4): Show a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0283 a0003c0007t0004g0287 a0003c0007t0004g0288 a0010c0029t0004g0220	7	298	0.0235	-144	c.177 others(19): Show c.1773+1728_1773+1871del		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	83011960	ATCCCAGC others(137): Show ATCCCAGCTCGTTTGAACACACGCCACGAACTCCTCGTATCCATAAGTCT CCCAGCTCGTTTGAACACACGCCACGAACTCCTCGTATCCATAAGTCTCC CAGCTCGTTTGAACACACGCCACGAACTCCTCGTATCCATAAGTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(108): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18953.hp2 NA18954.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18980.hp2 NA18983.hp1 NA18995.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19062.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0020 a0002c0005 a0002c0009 a0002c0010 a0002c0015 a0002c0027 a0003c0021 a0003c0023 a0003c0024 a0003c0025 a0004c0017 a0004c0019 a0007c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0036 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010 a0001c0002t0028 a0001c0002t0029 a0001c0003t0004 a0001c0003t0014 a0001c0003t0015 a0001c0003t0020 a0001c0003t0034 a0001c0006t0002 a0001c0006t0011 a0001c0007t0004 a0001c0007t0005 a0001c0007t0009 a0001c0008t0005 a0001c0011t0011 a0001c0011t0012 a0001c0012t0001 a0001c0012t0002 a0001c0020t0005 a0002c0005t0003 a0002c0005t0007 a0002c0009t0003 a0002c0009t0013 a0002c0010t0007 a0002c0015t0003 a0002c0027t0003 a0003c0021t0035 a0003c0023t0011 a0003c0024t0010 a0003c0025t0011 a0004c0017t0002 a0004c0019t0004 a0007c0028t0002	a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0179 others(108): Show a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0002g0064 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0245 a0001c0001t0004g0247 a0001c0001t0005g0256 a0001c0001t0006g0157 a0001c0001t0006g0164 a0001c0001t0014g0248 a0001c0001t0015g0249 a0001c0001t0022g0230 a0001c0001t0022g0239 a0001c0001t0036g0244 a0001c0002t0001g0089 a0001c0002t0001g0114 a0001c0002t0002g0065 a0001c0002t0002g0072 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0088 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0112 a0001c0002t0002g0122 a0001c0002t0002g0125 a0001c0002t0002g0131 a0001c0002t0006g0107 a0001c0002t0008g0069 a0001c0002t0008g0091 a0001c0002t0008g0092 a0001c0002t0008g0099 a0001c0002t0008g0100 a0001c0002t0008g0101 a0001c0002t0008g0102 a0001c0002t0008g0108 a0001c0002t0008g0111 a0001c0002t0008g0123 a0001c0002t0010g0126 a0001c0002t0028g0120 a0001c0002t0029g0073 a0001c0003t0004g0190 a0001c0003t0004g0201 a0001c0003t0004g0217 a0001c0003t0004g0223 a0001c0003t0014g0194 a0001c0003t0015g0198 a0001c0003t0015g0199 a0001c0003t0020g0188 a0001c0003t0020g0200 a0001c0003t0034g0197 a0001c0006t0002g0024 a0001c0006t0011g0018 a0001c0007t0004g0240 a0001c0007t0004g0241 a0001c0007t0005g0233 a0001c0007t0005g0252 a0001c0007t0005g0254 a0001c0007t0009g0255 a0001c0008t0005g0192 a0001c0011t0011g0138 a0001c0011t0011g0139 a0001c0011t0012g0142 a0001c0012t0001g0068 a0001c0012t0001g0080 a0001c0012t0001g0097 a0001c0012t0001g0124 a0001c0012t0002g0079 a0001c0020t0005g0218 a0002c0005t0003g0052 a0002c0005t0003g0053 a0002c0005t0003g0059 a0002c0005t0003g0060 a0002c0005t0003g0062 a0002c0005t0003g0063 a0002c0005t0003g0155 a0002c0005t0007g0228 a0002c0005t0007g0235 a0002c0005t0007g0236 a0002c0009t0003g0078 a0002c0009t0003g0096 a0002c0009t0003g0103 a0002c0009t0003g0121 a0002c0009t0013g0066 a0002c0010t0007g0222 a0002c0015t0003g0023 a0002c0027t0003g0113 a0003c0021t0035g0187 a0003c0023t0011g0019 a0003c0024t0010g0151 a0003c0025t0011g0054 a0004c0017t0002g0136 a0004c0017t0002g0137 a0004c0019t0004g0193 a0007c0028t0002g0106	111	266	0.4173	-144	c.363 others(17): Show c.363+2350_363+2493del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	5/12						chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81054101	AGGGTGGG others(137): Show AGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGACCCCGTGG GGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCGTGGGG TGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCTTG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01358.hp2 HG01993.hp2 others(4): Show HG01074.hp1 HG01358.hp2 HG01993.hp2 HG02257.hp1 HG02735.hp1 HG03490.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0014 a0001c0001 a0002c0002 a0002c0014	a0001c0001t0001 a0002c0002t0002 a0002c0014t0007 a0001c0001t0001 a0002c0002t0002 a0002c0014t0007	a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 others(4): Show a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0014t0007g0314	7	376	0.0186	-144	c.130 others(15): Show c.130+397_130+540del		BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
BPHL_chr6_3113711_3158578	3145181	CGGGGTGG others(137): Show CGGGGTGGAGTGCTGGTTCGGGGTGGAGTGCTGGTTCGGGTCCGAGTGCT GGTTCGGGTGGAGTGCTGGTTCGGGGTGGAGTGCTGGTGTGGGTTGGAGT GCTGGTTCGGGTCCGAGTGCTGGTTCGGGGTGGAGTGCTGGTTCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0003c0006 a0004c0007	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0002t0003 a0001c0004t0015 a0001c0010t0001 a0003c0006t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(110): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0259 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0008g0177 a0001c0001t0010g0036 a0001c0001t0011g0013 a0001c0002t0003g0040 a0001c0002t0003g0248 a0001c0002t0003g0252 a0001c0004t0015g0245 a0001c0010t0001g0239 a0003c0006t0001g0232 a0004c0007t0001g0006	160	350	0.4571	-144	c.788 others(17): Show c.788+4676_788+4819del		BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
BPHL_chr6_3113711_3158578	3145342	CGGGGTGG others(137): Show CGGGGTGGAGTGCTGGTGTGGGTTGGAGTGCTGGTTCGGGGTGGAGTGCT GGTTCGGGTCCGAGTGCTGGTTCGGGTGGAGTGCTGGTTCAGGGTGGAGC GCTGGTTCGGGGTGGAGTGCTGGTTTGGGTTTGAATGCTGATTCG	C C	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	350	0.0029	-144	c.788 others(17): Show c.788+4837_788+4980del		BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
BPHL_chr6_3113711_3158578	3145430	TCAGGGTG others(137): Show TCAGGGTGGAGCGCTGGTTCGGGGTGGAGTGCTGGTTTGGGTTTGAATGC TGATTCGGGGTGGAGTGCTGGTTCGGGGTGGAGTGCTGGTTCAGGGTGGA GTGCTGGTTCCGGTTGGAGTGCTGGTGTGGGTTGGAGTGCTGGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(156): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0003c0006 a0004c0007	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0002t0003 a0001c0004t0015 a0001c0010t0001 a0003c0006t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(109): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0259 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0008g0177 a0001c0001t0010g0036 a0001c0001t0011g0013 a0001c0002t0003g0040 a0001c0002t0003g0248 a0001c0002t0003g0252 a0001c0004t0015g0245 a0001c0010t0001g0239 a0003c0006t0001g0232 a0004c0007t0001g0006	159	350	0.4543	-144	c.788 others(17): Show c.788+4922_788+5065del		BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6						chr6	TogoVar

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