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
TLE2_chr19_2992644_3034280	3004336	GTTGGACA others(102): Show GTTGGACATAAAGAGCTTGGGAGGGCAAGCGCGGTGGCTCAGGCCTGTAA TTCCCACACTGGGAAGCCGAGGCAGGTGGATCACTTGAGGCCAGGAATCC AAGACCAACC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0233 a0001c0016t0001g0233	1	402	0.0025	-109	c.189 others(18): Show c.1896+992_1896+1100del	TLE2	ENSG00000065717.16	transcript	ENST00000262953.11	protein_coding	17/19			chr19	TogoVar
TMCO3_chr13_113486021_113555229	113514454	CGGGGTGC others(102): Show CGGGGTGCAGGCTGATGGGACTGAGATCGACGCCATCCACACAAGCCTGC TGCCAAGCTTTGTTTTAGACCGAGTCTTGCAACAGGAAGACATGAGCCTC GCTAGTATTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00558.hp2 others(20): Show HG00280.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG01255.hp1 HG02027.hp1 HG02080.hp1 HG02129.hp2 HG02293.hp2 HG02717.hp1 HG03516.hp2 HG03654.hp2 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18968.hp2 NA18974.hp2 NA18990.hp1 NA19000.hp1 NA19064.hp2 NA19079.hp2 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0001c0009 others(1): Show a0001c0001 a0001c0006 a0001c0009 a0005c0011	a0001c0001t0001 a0001c0006t0001 a0001c0009t0004 others(1): Show a0001c0001t0001 a0001c0006t0001 a0001c0009t0004 a0005c0011t0008	a0001c0001t0001g0201 a0001c0006t0001g0027 a0001c0006t0001g0217 others(19): Show a0001c0001t0001g0201 a0001c0006t0001g0027 a0001c0006t0001g0217 a0001c0006t0001g0218 a0001c0006t0001g0219 a0001c0006t0001g0220 a0001c0006t0001g0221 a0001c0006t0001g0222 a0001c0006t0001g0223 a0001c0006t0001g0224 a0001c0006t0001g0225 a0001c0006t0001g0226 a0001c0006t0001g0227 a0001c0006t0001g0228 a0001c0006t0001g0234 a0001c0006t0001g0235 a0001c0006t0001g0236 a0001c0009t0004g0281 a0001c0009t0004g0282 a0001c0009t0004g0283 a0005c0011t0008g0306 a0005c0011t0008g0307	23	366	0.0628	-109	c.122 others(19): Show c.1225+4139_1225+4247del	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM104_chr17_74771499_74844753	74814242	TCCCAGGC others(102): Show TCCCAGGCCCCCTTCCTGTGGGGATCTTGGAGATGCTGGGGAGCCAGGCA CCCCAGGCCCCCTTCCTGTGGGGATCTTGGAGATGCCGATGATGGTGGGG AGCCGGGCAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19002.hp2 NA19005.hp1 others(1): Show HG00438.hp2 NA19002.hp2 NA19005.hp1 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0019 a0002c0002 a0002c0019	a0002c0002t0003 a0002c0019t0003 a0002c0002t0003 a0002c0019t0003	a0002c0002t0003g0006 a0002c0002t0003g0095 a0002c0019t0003g0148 a0002c0002t0003g0006 a0002c0002t0003g0095 a0002c0019t0003g0148	4	300	0.0133	-109	c.637 others(17): Show c.637-5469_637-5361del	TMEM104	ENSG00000109066.14	transcript	ENST00000335464.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
TMEM255A_chrX_120253650_120316461	120297014	TATATATT others(102): Show TATATATTATATATATATAATATATAATATATAATATAATATATATAATA TTATATATATTATATTATATTATAATATATATAATATTATATATATTATA TTATATTATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0219 a0001c0001t0006g0219	1	301	0.0033	-109	c.202 others(17): Show c.202-3072_202-2964del	TMEM255A	ENSG00000125355.16	transcript	ENST00000371369.9	protein_coding	2/8			chrX	TogoVar
TNFRSF8_chr1_12058303_12149207	12089829	ACATCCAT others(102): Show ACATCCATCTACCCATCCACCCATCTACCCACTCATCCACTCTTCCCTAA CCCATCCATCTATCCACCTATCTACCTGCCCATCCACCCTTCCCCATCCA TCCATCCATC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	360	0.0028	-109	c.151 others(17): Show c.151+5313_151+5421del	TNFRSF8	ENSG00000120949.15	transcript	ENST00000263932.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
TNNI3_chr19_55146767_55162732	55147301	AGCTGGGG others(102): Show AGCTGGGGTCTGGACTCCTGGGTGTGAGAGAGGAGGAGCTGGGGCCTGGA CTCCTGGGTCTGAGGAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGA GGGAGGAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG01069.hp2 others(51): Show HG00408.hp2 HG00558.hp2 HG01069.hp2 HG01070.hp1 HG01192.hp1 HG01243.hp1 HG02027.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG03654.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18953.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18982.hp1 NA18983.hp2 NA19007.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0003c0006t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0003g0016 a0001c0002t0001g0012 a0001c0002t0001g0014 a0001c0003t0001g0011 a0003c0006t0003g0033	54	386	0.1399	-109	c.44 others(11): Show c.4424_*4532del	TNNI3	ENSG00000129991.13	transcript	ENST00000344887.10	protein_coding		4465		chr19	TogoVar
TNNT1_chr19_55127698_55154206	55147301	AGCTGGGG others(102): Show AGCTGGGGTCTGGACTCCTGGGTGTGAGAGAGGAGGAGCTGGGGCCTGGA CTCCTGGGTCTGAGGAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGA GGGAGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG01069.hp2 others(39): Show HG00408.hp1 HG00558.hp1 HG01069.hp2 HG01070.hp1 HG01192.hp1 HG02027.hp1 HG02055.hp2 HG02083.hp1 HG02145.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18960.hp2 NA18970.hp1 NA18982.hp2 NA18983.hp2 NA19007.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0005c0005t0002	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0070 others(36): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0279 a0001c0001t0002g0089 a0001c0001t0002g0106 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0003g0030 a0001c0001t0003g0068 a0005c0005t0002g0218	42	318	0.1321	-109	c.-11 others(15): Show c.-11-242_-11-134del	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	1/13			chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930542	GGGGGTTA others(102): Show GGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCTA GGGTTAGGGAGGCCGGGGTTAGGGAGGCCTAGGGTTAGGGAGGCCGGGGT TAGGGAGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0061 a0002c0002t0002g0061	1	285	0.0035	-109	c.49 others(11): Show c.4940_*5048del	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4827		chr11	TogoVar
TPO_chr2_1408463_1548673	1526353	TTCCCCCC others(102): Show TTCCCCCCACTGTGTGCAACCCCCCAAATGCCCCCCAATGTGAGCAACCC CCCCAAATCAACATGCTGTGTGAAACCTCAAATCCCCCAACTGTGTGCAA CCTCCCCAAA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0114 a0001c0004t0001g0114	1	125	0.0080	-109	c.261 others(19): Show c.2618+9377_2618+9485del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1534100	AACGCCCC others(102): Show AACGCCCCCACTCTGTGCAACCTCCCCAAATCCCCCCAACTGTTTGCAAC CTCCCAAATCCCCCCCAATGCGAGCAACCTCCCAAATCCCCCGTGTGCAA CCCCCCAATC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01081.hp1 HG01192.hp2 others(5): Show HG00597.hp2 HG01081.hp1 HG01192.hp2 HG01978.hp2 HG02040.hp1 NA18962.hp1 NA19240.hp1 NA20752.hp1	a0002 a0004 a0007 others(1): Show a0002 a0004 a0007 a0016	a0002c0002 a0004c0007 a0004c0032 others(2): Show a0002c0002 a0004c0007 a0004c0032 a0007c0013 a0016c0030	a0002c0002t0009 a0002c0002t0014 a0004c0007t0004 others(4): Show a0002c0002t0009 a0002c0002t0014 a0004c0007t0004 a0004c0007t0008 a0004c0032t0008 a0007c0013t0012 a0016c0030t0004	a0002c0002t0009g0062 a0002c0002t0014g0008 a0004c0007t0004g0108 others(5): Show a0002c0002t0009g0062 a0002c0002t0014g0008 a0004c0007t0004g0108 a0004c0007t0008g0049 a0004c0007t0008g0099 a0004c0032t0008g0107 a0007c0013t0012g0066 a0016c0030t0004g0115	8	128	0.0625	-109	c.261 others(19): Show c.2619-6493_2619-6385del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TRARG1_chr17_1274662_1305978	1288605	TCATCCCC others(102): Show TCATCCCCCACGGGTTCCCCATCCCCCATGGGTTCCCCATCCCCCTCCAG CTTCTCATCCCCCACGGGTTCCCCACCCCCCACGGGCTCCTCATCCCCCA CCGGGTTCCC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02886.hp1 HG00741.hp1 HG02886.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0033 a0003c0003t0034 a0003c0003t0033 a0003c0003t0034	a0003c0003t0033g0197 a0003c0003t0034g0198 a0003c0003t0033g0197 a0003c0003t0034g0198	2	400	0.0050	-109	c.388 others(17): Show c.388-6858_388-6750del	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
TSPAN4_chr11_837852_872111	858943	CCCAACAG others(102): Show CCCAACAGCTTGCACCCCCGGCACACATGCACCCCGGCTCACACGCACCC CTGGGTCACACGCATCCCCGCTCACATGCACCCCAGCTCTCACGCACCCC CGGGCTCACA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0315 a0001c0007t0002g0315	1	392	0.0026	-109	c.64- others(15): Show c.64-3556_64-3448del	TSPAN4	ENSG00000214063.12	transcript	ENST00000397397.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
UNC93A_chr6_167286315_167321014	167295420	CCCTCGTG others(102): Show CCCTCGTGATCCTCGGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGCTCCT CGCCTCCCTCGTGAACCTCGCCTCCCTCGTGATCCTCGCCTGCCTCGTGC TCCTCGCCTG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01069.hp2 HG01071.hp1 HG00673.hp2 HG01069.hp2 HG01071.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0008 a0002c0002 a0004c0008	a0002c0002t0005 a0004c0008t0001 a0002c0002t0005 a0004c0008t0001	a0002c0002t0005g0058 a0004c0008t0001g0132 a0002c0002t0005g0058 a0004c0008t0001g0132	3	446	0.0067	-109	c.270 others(15): Show c.270-604_270-496del	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
USP24_chr1_55061359_55220364	55219016	TTTTAGTA others(102): Show TTTTAGTAGAGGCGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAGCTC CTGACCTCAAGTGATCTGCCTCCCTTGGCCTACCAAAATGCTGAGATTAC AGGTGTGAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0185	1	196	0.0051	-109	c.-40 others(11): Show c.-4012_-3904del	USP24	ENSG00000162402.15	transcript	ENST00000294383.7	protein_coding		3653		chr1	TogoVar
VCX3B_chrX_8459830_8471510	8466675	AGGGAGGG others(102): Show AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAG GAGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 NA18949.hp2 HG02165.hp2 NA18949.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0004 a0007c0008t0005 a0001c0001t0004 a0007c0008t0005	a0001c0001t0004g0002 a0007c0008t0005g0004 a0001c0001t0004g0002 a0007c0008t0005g0004	2	269	0.0074	-109	c.29 others(9): Show c.293_*401del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		166		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466704	AGGGAGGG others(102): Show AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTG TGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAG GAGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02723.hp2 NA18612.hp1 HG02132.hp1 HG02723.hp2 NA18612.hp1	a0001 a0007 a0015 a0001 a0007 a0015	a0001c0001 a0007c0008 a0015c0015 a0001c0001 a0007c0008 a0015c0015	a0001c0001t0018 a0007c0008t0005 a0015c0015t0005 a0001c0001t0018 a0007c0008t0005 a0015c0015t0005	a0001c0001t0018g0002 a0007c0008t0005g0004 a0015c0015t0005g0004 a0001c0001t0018g0002 a0007c0008t0005g0004 a0015c0015t0005g0004	3	268	0.0112	-109	c.32 others(9): Show c.322_*430del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		195		chrX	TogoVar
WWOX_chr16_78094654_79217667	78604729	CCCCCCTC others(102): Show CCCCCCTCCCTCCTTCCCCCCTCCCTCCTTCCCCCCTCCCTCCTTCCCCC CTCCCTCCTTCCCCCCTCCCTCCTTCCTCCCTCCCTCCTTCCCTTCCTCC CTCCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp1 HG02886.hp1 others(5): Show HG01891.hp2 HG02809.hp1 HG02886.hp1 HG02965.hp1 HG03041.hp1 HG03098.hp2 NA18522.hp1 NA21309.hp2	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0007 a0008	a0001c0007 a0005c0003 a0006c0005 others(3): Show a0001c0007 a0005c0003 a0006c0005 a0007c0008 a0008c0009 a0008c0024	a0001c0007t0007 a0005c0003t0001 a0005c0003t0015 others(5): Show a0001c0007t0007 a0005c0003t0001 a0005c0003t0015 a0005c0003t0016 a0006c0005t0024 a0007c0008t0026 a0008c0009t0007 a0008c0024t0003	a0001c0007t0007g0110 a0005c0003t0001g0008 a0005c0003t0015g0135 others(5): Show a0001c0007t0007g0110 a0005c0003t0001g0008 a0005c0003t0015g0135 a0005c0003t0016g0081 a0006c0005t0024g0113 a0007c0008t0026g0040 a0008c0009t0007g0005 a0008c0024t0003g0105	8	142	0.0563	-109	c.105 others(23): Show c.1056+171983_1056+172091del	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZDHHC4_chr7_6572454_6594374	6577114	AAAATAAA others(102): Show AAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAATAAAATAAAATAAATAAAATAAAATAAATAAAATAAAATAAAT AAAATAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02155.hp1 HG02451.hp2 others(3): Show HG01891.hp2 HG02155.hp1 HG02451.hp2 HG02717.hp1 NA19030.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0050 a0001c0001t0001g0084 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0050 a0001c0001t0001g0084 a0001c0001t0001g0102 a0002c0002t0001g0001 a0002c0002t0001g0069	6	404	0.0149	-109	c.-54 others(9): Show c.-546_-438del	ZDHHC4	ENSG00000136247.15	transcript	ENST00000335965.11	protein_coding		339		chr7	TogoVar
ZNF444_chr19_56136287_56165893	56149026	CCCCCATC others(102): Show CCCCCATCACTCCTCCGACCTTGACCTCTGCTTCCATCCCCATCACTCCT CCGACCTTGACCTCTGCTTCCATCCCCCATCACTCCTCTGACCTTGACCT CTGCTTCCAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00597.hp2 others(87): Show HG00323.hp2 HG00423.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG01109.hp1 HG01192.hp2 HG01243.hp2 HG01884.hp1 HG02040.hp2 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp2 NA19004.hp2 NA19012.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0011c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0002t0003 a0001c0002t0007 a0001c0002t0020 a0001c0002t0022 a0001c0004t0004 a0001c0004t0010 a0001c0004t0016 a0011c0017t0005	a0001c0001t0001g0088 a0001c0001t0001g0126 a0001c0001t0002g0154 others(40): Show a0001c0001t0001g0088 a0001c0001t0001g0126 a0001c0001t0002g0154 a0001c0001t0003g0002 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0102 a0001c0001t0003g0140 a0001c0001t0004g0035 a0001c0001t0004g0057 a0001c0001t0004g0094 a0001c0001t0004g0146 a0001c0001t0005g0019 a0001c0001t0005g0084 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0008g0018 a0001c0001t0009g0020 a0001c0002t0003g0002 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0032 a0001c0002t0003g0040 a0001c0002t0003g0055 a0001c0002t0003g0065 a0001c0002t0003g0086 a0001c0002t0003g0089 a0001c0002t0003g0090 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0007g0027 a0001c0002t0020g0155 a0001c0002t0022g0032 a0001c0004t0004g0127 a0001c0004t0004g0142 a0001c0004t0010g0044 a0001c0004t0016g0141 a0011c0017t0005g0019	90	414	0.2174	-109	c.297 others(17): Show c.297+1851_297+1959del	ZNF444	ENSG00000167685.15	transcript	ENST00000337080.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235179	GTCTCCAC others(102): Show GTCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGTCTCCACTCCAGCC TCTGATGGACCGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGATGGTGG GCCAAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00738.hp2 others(29): Show HG00438.hp2 HG00597.hp2 HG00738.hp2 HG01106.hp2 HG01261.hp1 HG01358.hp1 HG01928.hp2 HG01952.hp1 HG02004.hp1 HG02040.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 NA18950.hp2 NA18956.hp2 NA18957.hp1 NA18968.hp2 NA18982.hp2 NA18984.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA19000.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp2 NA19064.hp1 NA19065.hp2 NA19086.hp1 NA19091.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0002c0002t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0058 others(29): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0001g0262 a0001c0001t0001g0270 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0001g0343 a0001c0001t0001g0353 a0001c0001t0002g0189 a0001c0001t0010g0360 a0002c0002t0001g0203	32	359	0.0891	-109	c.-12 others(21): Show c.-127-10115_-127-10007del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ABLIM2_chr4_7960327_8163813	8131739	CAGCACAG others(101): Show CAGCACAGCAGCCCGCATCCCTGAGCACAGCAGCCCGCATCCCCTGCACA GCAGCCCGCATCCCTGAGCACAGCAGCCCGCATCCCCAGCACAGCAGCCC GCATCCCTG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01884.hp2 HG02257.hp2 others(15): Show HG01074.hp2 HG01884.hp2 HG02257.hp2 HG02486.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp2 HG03831.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0006 a0001c0004t0004 a0001c0004t0007 a0001c0010t0008	a0001c0001t0001g0045 a0001c0001t0001g0225 a0001c0001t0002g0021 others(15): Show a0001c0001t0001g0045 a0001c0001t0001g0225 a0001c0001t0002g0021 a0001c0001t0002g0042 a0001c0001t0002g0096 a0001c0001t0002g0210 a0001c0001t0004g0128 a0001c0001t0004g0208 a0001c0001t0007g0236 a0001c0001t0009g0235 a0001c0001t0017g0300 a0001c0002t0001g0287 a0001c0002t0004g0239 a0001c0003t0001g0241 a0001c0003t0006g0206 a0001c0004t0004g0126 a0001c0004t0007g0131 a0001c0010t0008g0255	18	319	0.0564	-108	c.11- others(17): Show c.11-25210_11-25103del	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	1/20			chr4	TogoVar
ABR_chr17_998519_1184981	1096755	GGGGGGAA others(101): Show GGGGGGAACCTGCCCCGGGTGGAGAGAGCTGGGGGAAGTGGGGGAACCTG CCCCGGGAGGAGAGAGCTGGGGAAGGGGGGAAACCTGCCCCAGGAGAGAG CTGGGGAAT	G G	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18967.hp2 NA18947.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0320 a0001c0001t0010g0322 a0001c0001t0004g0320 a0001c0001t0010g0322	2	336	0.0060	-108	c.345 others(17): Show c.345+3774_345+3881del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	3/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143192	ACAGCTCA others(101): Show ACAGCTCATTCCTGGGGGACAGCTCGCTCCTGGGGGGCAGCTCGCTCCTG GGGGACAGCTCATTCCTGGGGGACAGCTCGCTCCTGGGGGACAGCTCGCT CCTGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02965.hp1 HG02976.hp2 HG02615.hp1 HG02965.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0001t0074 a0001c0002t0012 a0001c0001t0017 a0001c0001t0074 a0001c0002t0012	a0001c0001t0017g0226 a0001c0001t0074g0155 a0001c0002t0012g0245 a0001c0001t0017g0226 a0001c0001t0074g0155 a0001c0002t0012g0245	3	336	0.0089	-108	c.62- others(17): Show c.62-17933_62-17826del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143246	ACAGCTCA others(101): Show ACAGCTCATTCCTGGGGGACAGCTCGCTCCTGGGGGACAGCTCGCTCCTG GGGGGCAGCTCGCTCCTGGGGGACAGCTCATTCCTGGGGGACAGCTCACT CCTGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0136 a0001c0001t0064g0136	1	328	0.0030	-108	c.62- others(17): Show c.62-17987_62-17880del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143380	TTCCTGGG others(101): Show TTCCTGGGGGACAGCTCGCTCCTGGGGGGCAGCTCGCTCCTGGGGGACAG CTCATTCCTGGGGGACAGCTCGCTCCTGGGGGGCAGCTCATTCCTGGGGG GCAGCTCGC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0141 a0001c0001t0006g0141	1	316	0.0032	-108	c.62- others(17): Show c.62-18121_62-18014del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACACB_chr12_109111587_109273226	109194475	GCATGAGC others(101): Show GCATGAGCCACCCCCCAACCTCTGCCTCTGTGTGTGCATGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTTTACATTGGCCTCCCAAAGTGCTGG GATTACAGT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02559.hp2 HG02896.hp1 HG02897.hp2 HG03139.hp2	a0001 a0025 a0001 a0025	a0001c0016 a0001c0032 a0025c0066 a0001c0016 a0001c0032 a0025c0066	a0001c0016t0009 a0001c0032t0004 a0025c0066t0015 a0001c0016t0009 a0001c0032t0004 a0025c0066t0015	a0001c0016t0009g0287 a0001c0032t0004g0289 a0001c0032t0004g0290 others(1): Show a0001c0016t0009g0287 a0001c0032t0004g0289 a0001c0032t0004g0290 a0025c0066t0015g0115	4	216	0.0185	-108	c.248 others(17): Show c.2481+761_2481+868del	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	16/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1288233	TCCGTCCC others(101): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGT CTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02965.hp1 HG00438.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0023 a0001c0001t0002g0136 a0001c0001t0001g0023 a0001c0001t0002g0136	2	282	0.0071	-108	c.52 others(11): Show c.5223_*5330del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4157		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288665	CCGTGTCT others(101): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0006 a0007c0018t0006	a0007c0018t0006g0076 a0007c0018t0006g0076	1	291	0.0034	-108	c.47 others(11): Show c.4791_*4898del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3725		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289471	CCCCGTGT others(101): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	278	0.0036	-108	c.39 others(11): Show c.3985_*4092del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2919		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289910	CCGTGTCT others(101): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03490.hp1 NA19002.hp2 HG02258.hp2 HG03490.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0001 a0001c0001t0002 a0001c0001t0013	a0001c0001t0001g0006 a0001c0001t0002g0004 a0001c0001t0013g0128 a0001c0001t0001g0006 a0001c0001t0002g0004 a0001c0001t0013g0128	3	294	0.0102	-108	c.35 others(11): Show c.3546_*3653del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2480		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289937	TCTGCTCC others(101): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0003 a0008c0009t0003	a0008c0009t0003g0124 a0008c0009t0003g0124	1	283	0.0035	-108	c.35 others(11): Show c.3519_*3626del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2453		chr1	TogoVar
ACKR3_chr2_236564825_236587354	236575470	GTGTGTGC others(101): Show GTGTGTGCGTGTGTCTGGGGTTGTGCTGTGTGTGTGTGTGTCTGGGGTTG TGCTGTGTGTGCGTGTGTCTGGGGTTGTGCTGTGTGTGTGTGTGTGTCTG GGGTTGTGC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	392	0.0026	-108	c.-26 others(17): Show c.-26-4963_-26-4856del	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTR3C_chr7_150242212_150328545	150244067	GTATAGTC others(101): Show GTATAGTCTTAGAATATTGAATATTCAATATAGTCTTAGAATATTGAATA TTCAATATAGTCTTAGAATATTGAATATTCAATATAGTCTTAGAATATTG AATATTCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03453.hp2 NA19030.hp1 HG03195.hp1 HG03453.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0265 a0002c0002t0002g0048 a0002c0002t0002g0113 a0001c0001t0002g0265 a0002c0002t0002g0048 a0002c0002t0002g0113	3	196	0.0153	-108	c.34 others(11): Show c.3433_*3540del	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding		3144		chr7	TogoVar
ADAMTS19_chr5_129455298_129743683	129578103	CATATGCA others(101): Show CATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATA TGTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTA CATATACCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA20129.hp2 HG02630.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0188 a0001c0001t0007g0114 a0001c0001t0001g0188 a0001c0001t0007g0114	2	58	0.0345	-108	c.137 others(21): Show c.1373-18225_1373-18118del	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADARB2_chr10_1172313_1742525	1189729	CCTACCTC others(101): Show CCTACCTCCTTCCCCAGAACACGTGGCGCTACCTCCTTCCCCAGAACACG TGGCGCTACCTCCTTCCCCAGAACACGTGGCGCTACCTCCTTCCCCAGAA CACGTGGCG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0062 a0001c0001t0052g0062	1	12	0.0833	-108	c.186 others(19): Show c.1865-4798_1865-4691del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	8/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1189825	AGAACACG others(101): Show AGAACACGTGGCGCTACCTCCTTCCCCAGAACACGTGGCGCTACCTCCTT CCCCAGAACACGTGGCGCTACCTCCTTCCCCAGAACACGTGGCGCTACCT CCTTCCCCC	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02257.hp1 HG03139.hp2 others(3): Show HG02027.hp2 HG02257.hp1 HG03139.hp2 HG03669.hp2 NA18982.hp1 NA18984.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0013 a0001c0001t0017 a0001c0001t0031 others(3): Show a0001c0001t0013 a0001c0001t0017 a0001c0001t0031 a0001c0001t0054 a0001c0001t0055 a0006c0009t0024	a0001c0001t0013g0007 a0001c0001t0017g0030 a0001c0001t0031g0059 others(3): Show a0001c0001t0013g0007 a0001c0001t0017g0030 a0001c0001t0031g0059 a0001c0001t0054g0083 a0001c0001t0055g0089 a0006c0009t0024g0016	6	106	0.0566	-108	c.186 others(19): Show c.1865-4894_1865-4787del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	8/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1327283	TCACTGCC others(101): Show TCACTGCCCAGCGCCTCCCCACGGCACAGCACCTCCTCACTGCACAGCGC CTCCTCACTGCACAGCGCCTCCTCACGGCCCAGCGCCTCCCCACGGCACA GCGCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA21309.hp1 HG03209.hp2 NA21309.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0011 a0001c0001 a0011c0011	a0001c0001t0019 a0011c0011t0034 a0001c0001t0019 a0011c0011t0034	a0001c0001t0019g0038 a0011c0011t0034g0076 a0001c0001t0019g0038 a0011c0011t0034g0076	2	100	0.0200	-108	c.107 others(21): Show c.1077+35637_1077+35744del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133099093	TTGGGGGG others(101): Show TTGGGGGGACACAGCCCACCCCTCCAGGAGAAAGTGCTGGGGGGACACAG CCCGCCCCTCCCGGAGAAAGTGCTGGGGGGACACAGCCCGCCCCTCCCGG AGAAAGTGC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0326 a0001c0001t0018g0326	1	366	0.0027	-108	c.255 others(15): Show c.255+344_255+451del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133136176	TGGTCTCT others(101): Show TGGTCTCTGGGTCCCTGTGGGCGGGTCTGGTCTCTGGGTCTGTTGGGGGG GTCTGGTCTCTGGGTCCCTGTGGGGGGGGTCTGGTCTCTGGGTCCCTGTG GTGGGGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01243.hp1 HG01433.hp2 others(5): Show HG00642.hp1 HG01243.hp1 HG01433.hp2 HG02922.hp1 HG03017.hp2 HG04199.hp2 NA18522.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0017 a0001c0001t0039 a0001c0001t0044 others(2): Show a0001c0001t0017 a0001c0001t0039 a0001c0001t0044 a0001c0001t0050 a0001c0016t0056	a0001c0001t0017g0055 a0001c0001t0017g0161 a0001c0001t0017g0221 others(5): Show a0001c0001t0017g0055 a0001c0001t0017g0161 a0001c0001t0017g0221 a0001c0001t0017g0241 a0001c0001t0039g0034 a0001c0001t0044g0247 a0001c0001t0050g0319 a0001c0016t0056g0302	8	366	0.0219	-108	c.66 others(11): Show c.6666_*6773del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding		4502		chr10	TogoVar
ADRA1D_chr20_4215630_4254287	4224541	GGGGCCAG others(101): Show GGGGCCAGGGGTGTTCCATCCTGGATAGAGGCTGCAGGTGCCTGTGAGAC CAAGCGGGCCAGGGGTGTTCCATCCTGGATAGAGGCTGCAGGTGCCTGTG AGACCAAGC	G G	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	288	0.0035	-108	c.111 others(19): Show c.1112-2519_1112-2412del	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADRA1D_chr20_4215630_4254287	4224596	GGGCCAGG others(101): Show GGGCCAGGGGTGTTCCATCCTGGATAGAGGCTGCAGGTGCCTGTGAGACC AAGCGGGCCAGGGGTGTTCCATCCTGGATAGAGGCTGCAGGTGCCTGTGA GACCAAGCA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03516.hp1 NA19043.hp1 others(1): Show HG03453.hp2 HG03516.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0051 a0001c0001t0004g0327 a0001c0001t0004g0328	4	450	0.0089	-108	c.111 others(19): Show c.1112-2574_1112-2467del	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
AFF3_chr2_99540419_100147590	100037413	TTTATTTA others(101): Show TTTATTTATATATAAATATATATTTATATTTTATATATTATTTATATATA AATATATATTTATATTTTATATATTATTTATATATAAATATATATTTATA TTTTATATA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01891.hp1 HG06807.hp2 HG01071.hp2 HG01891.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0008 a0001c0001t0011 a0001c0009t0009 a0001c0001t0008 a0001c0001t0011 a0001c0009t0009	a0001c0001t0008g0001 a0001c0001t0011g0088 a0001c0009t0009g0017 a0001c0001t0008g0001 a0001c0001t0011g0088 a0001c0009t0009g0017	3	13	0.2308	-108	c.54- others(17): Show c.54-28589_54-28482del	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	4/24			chr2	TogoVar
AGMO_chr7_15195317_15567015	15322592	AAATATAT others(101): Show AAATATATATAAATATATATAAATATATAAATATATATAAATATATATAA ATATATAAATATATATATAAATATATATAAATATATGTATATATAAATAT ATGAATATG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19030.hp1 NA21309.hp2 HG02055.hp1 NA19030.hp1 NA21309.hp2	a0002 a0014 a0016 a0002 a0014 a0016	a0002c0004 a0014c0020 a0016c0022 a0002c0004 a0014c0020 a0016c0022	a0002c0004t0003 a0014c0020t0002 a0016c0022t0004 a0002c0004t0003 a0014c0020t0002 a0016c0022t0004	a0002c0004t0003g0012 a0014c0020t0002g0202 a0016c0022t0004g0020 a0002c0004t0003g0012 a0014c0020t0002g0202 a0016c0022t0004g0020	3	234	0.0128	-108	c.126 others(21): Show c.1263+42814_1263+42921del	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AHRR_chr5_316714_443285	343249	GGGGTGAC others(101): Show GGGGTGACAGGAACACGGGACCCCACATACCTTTTCGGGGTGACGTGAAC ACAGAACCCCACATACCCTCTCAGGGGTGACAGGAACGTGGGACCCCACG TACCTTCTC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0005 a0003c0004t0004g0005	1	265	0.0038	-108	c.-10 others(15): Show c.-10-640_-10-533del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD30B_chr18_14743172_14859667	14846954	TGCTGTTT others(101): Show TGCTGTTTGATTTCTGTTAGTCCCAGATCTTCTTTGCTCTGTTTTGTTCT TTTATTGCTTCCTTCAGACTAGTTTAGTAATTTTTATGATTTAGTTTTAT ATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	314	0.0032	-108	c.318 others(19): Show c.3182-1761_3182-1654del	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding	39/43			chr18	TogoVar
ARHGEF10_chr8_1818926_1963641	1841838	GGGAACTG others(101): Show GGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCG CGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGG GCCGCGACC	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0245 a0001c0001t0019g0245	1	352	0.0028	-108	c.-47 others(17): Show c.-47-1499_-47-1392del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1841856	GGGAACTG others(101): Show GGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCG CGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGACCGGAACTGGG GCCGCGACC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01081.hp1 others(11): Show HG00323.hp1 HG01069.hp1 HG01081.hp1 HG01255.hp1 HG01934.hp1 HG02280.hp1 HG02615.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG03486.hp1 HG03540.hp2 HG03669.hp1 NA18964.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0002 a0001c0003 a0001c0005 others(10): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0100 a0001c0154 a0002c0022 a0002c0048 a0003c0044 a0003c0064 a0012c0130	a0001c0002t0001 a0001c0003t0001 a0001c0003t0026 others(11): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0026 a0001c0005t0001 a0001c0007t0008 a0001c0008t0002 a0001c0009t0059 a0001c0100t0062 a0001c0154t0011 a0002c0022t0001 a0002c0048t0002 a0003c0044t0002 a0003c0064t0060 a0012c0130t0061	a0001c0002t0001g0327 a0001c0003t0001g0159 a0001c0003t0026g0268 others(11): Show a0001c0002t0001g0327 a0001c0003t0001g0159 a0001c0003t0026g0268 a0001c0005t0001g0337 a0001c0007t0008g0362 a0001c0008t0002g0070 a0001c0009t0059g0298 a0001c0100t0062g0265 a0001c0154t0011g0241 a0002c0022t0001g0211 a0002c0048t0002g0066 a0003c0044t0002g0328 a0003c0064t0060g0269 a0012c0130t0061g0342	14	361	0.0388	-108	c.-47 others(17): Show c.-47-1409_-47-1302del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1841964	CGGAACTG others(101): Show CGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCG CGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGG GCCGCGGCG	C C	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19057.hp2 NA18960.hp2 NA19057.hp2	a0002 a0002	a0002c0017 a0002c0082 a0002c0017 a0002c0082	a0002c0017t0002 a0002c0082t0001 a0002c0017t0002 a0002c0082t0001	a0002c0017t0002g0214 a0002c0082t0001g0261 a0002c0017t0002g0214 a0002c0082t0001g0261	2	257	0.0078	-108	c.-47 others(17): Show c.-47-1373_-47-1266del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASAP2_chr2_9201812_9410678	9406008	AGTCTTCC others(101): Show AGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG02280.hp2 HG00741.hp2 HG02280.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0006 a0002c0001t0001 a0001c0002t0006 a0002c0001t0001	a0001c0002t0006g0183 a0002c0001t0001g0146 a0001c0002t0006g0183 a0002c0001t0001g0146	2	200	0.0100	-108	c.26 others(11): Show c.2682_*2789del	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		331		chr2	TogoVar
ASCC3_chr6_100503194_100886329	100608647	TTATATAT others(101): Show TTATATATATATTTTATATATATATACTTTATATATATATTTTATATATA TATACTTTATATATATATTTTATATATATATACTTTATATATATATATAT ATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	311	0.0032	-108	c.478 others(19): Show c.4786-1667_4786-1560del	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar

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