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
SNTG2_chr2_945849_1372613	1222489	TGGTGCAG others(133): Show TGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0163 a0006c0009t0001g0163	1	190	0.0053	-140	c.719 others(19): Show c.719+13299_719+13438del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222529	CTGGAGGT others(133): Show CTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG CGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0001 a0006c0028t0001	a0006c0028t0001g0117 a0006c0028t0001g0117	1	190	0.0053	-140	c.719 others(19): Show c.719+13329_719+13468del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222575	GGCGTCTC others(133): Show GGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGG AAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAG GTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01256.hp2 HG01261.hp1 others(1): Show HG01106.hp1 HG01256.hp2 HG01261.hp1 HG03540.hp1	a0003 a0005 a0003 a0005	a0003c0007 a0003c0008 a0003c0026 others(1): Show a0003c0007 a0003c0008 a0003c0026 a0005c0006	a0003c0007t0001 a0003c0008t0001 a0003c0026t0001 others(1): Show a0003c0007t0001 a0003c0008t0001 a0003c0026t0001 a0005c0006t0001	a0003c0007t0001g0184 a0003c0008t0001g0130 a0003c0026t0001g0097 others(1): Show a0003c0007t0001g0184 a0003c0008t0001g0130 a0003c0026t0001g0097 a0005c0006t0001g0019	4	190	0.0211	-140	c.719 others(19): Show c.719+13399_719+13538del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX29_chr16_11971734_12579287	12261351	TGGCTGGA others(133): Show TGGCTGGAGTGAGTGTTTGCTGAGCTCGGGTCTGTGCACGTGTCCCCGGC TGGAGTAAGTGTTTGCTCTGAGCTCCGGTCTGTGCACGTGTCCCCCGCTG GAGTGAGTGTTGGCTGAGCTCGGGTCTGTGTGCGCGCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0085 a0001c0001t0015g0085	1	176	0.0057	-140	c.167 others(21): Show c.1679-16508_1679-16369del	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12261758	GTGCGTCC others(133): Show GTGCGTCCCCGGCTGGAGTGAGTGTTTGCTGAGCTCGGGTCTGTGCACGT GTCCCCGGCTGGAGTAAGTGTTTGCTCTGAGCTCCGGTCTGTGCGTGCAT CCCTGGCTGGAGTGAGTGTTTGCTGAGCTCGGGTCTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0093 a0001c0002t0093	a0001c0002t0093g0086 a0001c0002t0093g0086	1	176	0.0057	-140	c.167 others(21): Show c.1679-16151_1679-16012del	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SOX5_chr12_23524504_23954670	23837671	ATATATTT others(133): Show ATATATTTATATTTATATAATATATAAGCTATATTTATATTTATATAATA TATAAGCTATATTTATATTTATATAATATATAAGCTATATTTATATTTAT ATAATATATAAGCTATATTTATATTTATATAATATATAAGC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02486.hp2 HG02809.hp1 others(3): Show HG00741.hp2 HG02486.hp2 HG02809.hp1 HG02886.hp2 HG03540.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0022 others(3): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0022 a0001c0001t0030 a0001c0001t0031 a0001c0001t0095	a0001c0001t0004g0030 a0001c0001t0013g0177 a0001c0001t0022g0176 others(3): Show a0001c0001t0004g0030 a0001c0001t0013g0177 a0001c0001t0022g0176 a0001c0001t0030g0099 a0001c0001t0031g0031 a0001c0001t0095g0079	6	212	0.0283	-140	c.481 others(17): Show c.481+8172_481+8311del	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
STARD13_chr13_33098137_33290755	33177846	GAAGGAAG others(133): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02976.hp1 HG03041.hp1 HG02615.hp1 HG02976.hp1 HG03041.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0004 a0002c0010 a0010c0019 a0001c0004 a0002c0010 a0010c0019	a0001c0004t0002 a0002c0010t0006 a0010c0019t0006 a0001c0004t0002 a0002c0010t0006 a0010c0019t0006	a0001c0004t0002g0246 a0002c0010t0006g0010 a0010c0019t0006g0215 a0001c0004t0002g0246 a0002c0010t0006g0010 a0010c0019t0006g0215	3	302	0.0099	-140	c.170 others(19): Show c.170-10364_170-10225del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STAT3_chr17_42308324_42393442	42338121	GGACCTGA others(133): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02027.hp2 HG02056.hp1 others(2): Show HG02004.hp2 HG02027.hp2 HG02056.hp1 HG04204.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0084 others(2): Show a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0093 a0001c0001t0002g0099	5	302	0.0166	-140	c.551 others(15): Show c.551-404_551-265del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338161	GGACCTGA others(133): Show GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTG	G G	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	302	0.0033	-140	c.550 others(15): Show c.550+430_551-305del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338361	GGACCTGA others(133): Show GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	302	0.0033	-140	c.550 others(15): Show c.550+230_550+369del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
TBC1D2_chr9_98194011_98260649	98214190	ATGGCCAG others(133): Show ATGGCCAGGTTGATTTGGAAATGAAGAACATCACATGTGCAAGCGATGCT GCAGCAAGGATGACTCCGACGTGGCCAGATTGATTTGGAAATGAAGAACA TCACATGTGCAAGCGATGCTGCAGCAAGGATGACTCCGACG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(71): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG01099.hp2 HG01109.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02273.hp1 HG02293.hp1 HG02683.hp2 HG02717.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG04184.hp2 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18941.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18957.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18992.hp2 NA18994.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19010.hp2 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp1 NA19068.hp2 NA19076.hp2 NA19081.hp2 NA19084.hp1 NA19087.hp1 NA19089.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0013	a0001c0001 a0001c0039 a0002c0003 others(7): Show a0001c0001 a0001c0039 a0002c0003 a0002c0030 a0003c0004 a0003c0036 a0004c0005 a0006c0035 a0006c0038 a0013c0041	a0001c0001t0001 a0001c0039t0001 a0002c0003t0001 others(7): Show a0001c0001t0001 a0001c0039t0001 a0002c0003t0001 a0002c0030t0001 a0003c0004t0001 a0003c0036t0001 a0004c0005t0001 a0006c0035t0001 a0006c0038t0001 a0013c0041t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 others(63): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0140 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0039t0001g0059 a0002c0003t0001g0004 a0002c0003t0001g0018 a0002c0003t0001g0230 a0002c0003t0001g0232 a0002c0003t0001g0240 a0002c0003t0001g0241 a0002c0003t0001g0260 a0002c0003t0001g0262 a0002c0030t0001g0252 a0003c0004t0001g0005 a0003c0004t0001g0285 a0003c0004t0001g0286 a0003c0036t0001g0288 a0004c0005t0001g0277 a0006c0035t0001g0295 a0006c0038t0001g0294 a0013c0041t0001g0109	74	366	0.2022	-140	c.137 others(18): Show c.1375-1112_1375-973del	TBC1D2	ENSG00000095383.20	transcript	ENST00000465784.7	protein_coding	6/12			chr9	TogoVar
TBC1D2_chr9_98194011_98260649	98214268	ATTGATTT others(133): Show ATTGATTTGGAAATGAAGAACATCACATGTGCAAGCGATGCTGCAGCAAG GATGACTCCGACGTGGCCAGGTTGATTTGGAAATGAAGAACATCACATGT GCAAGCGATGCTGCAGCAAGGATGACTCCGACGTGGCCAGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG02145.hp1 HG02572.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0023 a0009c0013t0001g0024 a0009c0013t0001g0023 a0009c0013t0001g0024	2	366	0.0055	-140	c.137 others(19): Show c.1375-1190_1375-1051del	TBC1D2	ENSG00000095383.20	transcript	ENST00000465784.7	protein_coding	6/12			chr9	TogoVar
TBC1D9B_chr5_179857071_179912897	179871881	CCCCTTCC others(133): Show CCCCTTCCCAGGATGGGCGTGGGGGAGTCTCTCTCTCACACTCCGGGCCC CTTCCCAGGATGGGCGTGGGGGAGCCTCTCTCTCACACTCCGGGCCCCTT CCCAGGATGGGCGTGGGGGAGCCTCTCTCTCACACTCCGGG	C C	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0003 a0013c0018t0003	a0013c0018t0003g0215 a0013c0018t0003g0215	1	362	0.0028	-140	c.241 others(17): Show c.2416-491_2416-352del	TBC1D9B	ENSG00000197226.13	transcript	ENST00000355235.8	protein_coding	14/20			chr5	TogoVar
TCF3_chr19_1604292_1657615	1627911	CAGGGGGT others(133): Show CAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAG	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0118 a0003c0008t0001g0118	1	352	0.0028	-140	c.299 others(15): Show c.299-625_299-486del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TENM4_chr11_78647829_79446030	79190822	CTCTCCCT others(133): Show CTCTCCCTTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTC CCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTC CCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0017 a0001c0034t0017	a0001c0034t0017g0089 a0001c0034t0017g0089	1	94	0.0106	-140	c.-16 others(21): Show c.-163+24846_-163+24985del	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	3/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79190829	TTCTCCCT others(133): Show TTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCC CTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTC CCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCG	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0007 a0001c0042t0007	a0001c0042t0007g0068 a0001c0042t0007g0068	1	94	0.0106	-140	c.-16 others(21): Show c.-163+24839_-163+24978del	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	3/33			chr11	TogoVar
TFB1M_chr6_155251134_155319484	155305214	ATATATTT others(133): Show ATATATTTATATATATATATTAAATTATATATTTATATATATATTAAATT ATATATTTATATATATATATTAAATTATATATTTATATATATAAACATAT ATTAAATTATATATTTATATATATAAATATATATTAAATTG	A A	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02965.hp2 HG03486.hp1 others(2): Show HG02273.hp2 HG02965.hp2 HG03486.hp1 HG03688.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0014 a0001c0002t0003 others(1): Show a0001c0001t0004 a0001c0001t0014 a0001c0002t0003 a0001c0002t0022	a0001c0001t0004g0176 a0001c0001t0004g0215 a0001c0001t0014g0221 others(2): Show a0001c0001t0004g0176 a0001c0001t0004g0215 a0001c0001t0014g0221 a0001c0002t0003g0213 a0001c0002t0022g0207	5	348	0.0144	-140	c.285 others(17): Show c.285+5834_285+5973del	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFDP1_chr13_113579753_113646473	113633299	GGGGGCCG others(133): Show GGGGGCCGAGAGGCTGGGGTGGCGGAGCCCAGCGGTGTGGTACGTTTCGC TCTTTTAATATCGGGAACAGTTAAAACCATACAGAAAATGCCAAGTACAG CATAAAAGAATTTTTACCAAACGAGTCAGTAAGTGTGTGCC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	348	0.0029	-140	c.474 others(15): Show c.474+129_474+268del	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
THSD7B_chr2_136760545_137682718	136890364	CTTCTTCT others(133): Show CTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCC TTTCTTCTCCTTTCTTCTCCTTTCTTCTCCTTTCTTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0020 a0001c0010t0002g0020	1	98	0.0102	-140	c.139 others(17): Show c.139+8060_139+8199del	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	136890382	CCTCTTCC others(133): Show CCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTTCTTCTCCTTTCTTCT CCTTTCTTCTCCTTTCTTCTCCTTTCTTCTTCTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02451.hp1 HG03225.hp1 others(2): Show HG02056.hp1 HG02451.hp1 HG03225.hp1 NA18906.hp2 NA18993.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0031 a0002c0006 others(1): Show a0001c0001 a0001c0031 a0002c0006 a0011c0049	a0001c0001t0001 a0001c0031t0004 a0002c0006t0002 others(1): Show a0001c0001t0001 a0001c0031t0004 a0002c0006t0002 a0011c0049t0003	a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0031t0004g0060 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0031t0004g0060 a0002c0006t0002g0035 a0011c0049t0003g0074	5	98	0.0510	-140	c.139 others(17): Show c.139+8068_139+8207del	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMCO1_chr1_165721795_165773868	165761972	AAACATTT others(133): Show AAACATTTTTATTAAAATGTTATAAGGATAACATTTTTATTAAAATGTTA TAAGGATAACATTTTTATTAAAATGTTATAAGGATAACATTTTTATTAAA ATGTTATAAGGATAACATTTTTATTAAAATGTTATAAGGAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0354	1	374	0.0027	-140	c.149 others(17): Show c.149-2528_149-2389del	TMCO1	ENSG00000143183.18	transcript	ENST00000367881.11	protein_coding	2/6			chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129855610	GTGCCCTT others(133): Show GTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCAGGGGAACGG GATGGGTGCCCTTGTTACGGAGTCCGGGGGAACGGGATGGC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03195.hp2 HG02818.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0018 a0002c0003t0008 a0001c0002t0018 a0002c0003t0008	a0001c0002t0018g0066 a0002c0003t0008g0090 a0001c0002t0018g0066 a0002c0003t0008g0090	2	94	0.0213	-140	c.79+ others(17): Show c.79+47511_79+47650del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129857087	AGAGTCCG others(133): Show AGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAAC GGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTT ATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02040.hp1 HG02040.hp2 others(9): Show HG00408.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp2 HG02647.hp1 HG02809.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp2 NA18906.hp1 NA19091.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0004t0001 a0001c0007t0019	a0001c0001t0001g0059 a0001c0001t0001g0083 a0001c0001t0002g0039 others(9): Show a0001c0001t0001g0059 a0001c0001t0001g0083 a0001c0001t0002g0039 a0001c0001t0003g0085 a0001c0001t0005g0037 a0001c0001t0005g0042 a0001c0001t0005g0056 a0001c0001t0006g0067 a0001c0001t0010g0048 a0001c0001t0015g0005 a0001c0004t0001g0036 a0001c0007t0019g0043	12	94	0.1277	-140	c.79+ others(17): Show c.79+46034_79+46173del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129857327	GTAACAGA others(133): Show GTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACGGAGTCCGGG GGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTG CCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0094 a0001c0001t0027g0094	1	94	0.0106	-140	c.79+ others(17): Show c.79+45794_79+45933del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129858451	GAACGGGA others(133): Show GAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGC CCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACAGAGTC CGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03239.hp1 HG03834.hp1 HG02698.hp2 HG03239.hp1 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0011 a0002c0003t0001 a0001c0001t0001 a0001c0002t0011 a0002c0003t0001	a0001c0001t0001g0018 a0001c0002t0011g0001 a0002c0003t0001g0054 a0001c0001t0001g0018 a0001c0002t0011g0001 a0002c0003t0001g0054	3	94	0.0319	-140	c.79+ others(17): Show c.79+44670_79+44809del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129858615	AGAGTCCT others(133): Show AGAGTCCTGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGAAAC GGGATGGGTGCCCTTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTT GTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG04204.hp1 HG03017.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0021 a0001c0004t0001g0057 a0001c0001t0002g0021 a0001c0004t0001g0057	2	94	0.0213	-140	c.79+ others(17): Show c.79+44506_79+44645del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM239_chr20_2811364_2823062	2822556	CTCTCCCT others(133): Show CTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCGTCTC CCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTC CCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	400	0.0025	-140	c.55 others(11): Show c.5544_*5683del	TMEM239	ENSG00000198326.10	transcript	ENST00000380585.2	protein_coding		4495		chr20	TogoVar
TOLLIP_chr11_1269371_1314632	1287654	CGCCGCAG others(133): Show CGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAG CCTCCCCGCTGCACCCTCTCTGCCGCAGCCTCCCCGCCGCAGCCTCCCCG CCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA19079.hp2 HG03491.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0286 a0001c0002t0004g0310 a0001c0001t0001g0286 a0001c0002t0004g0310	2	348	0.0058	-140	c.519 others(15): Show c.519+830_519+969del	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOP1MT_chr8_143304324_143339880	143307964	GAAGAGGG others(133): Show GAAGAGGGCGGCAGAGGAGAGGGCGGCAGAGGAGAGGGCGGCAGAGGGTC CCGCATGGCAGAGGATCCCACGTGGCAGAGAAGAGGGCAGCAGAGGATCC CACGTGGCAGAGGAGAGGGCGGCAGAGGGTCCCGTGTGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00408.hp2 others(89): Show HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01167.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02738.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 NA18612.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18951.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA18997.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp2	a0001 a0008 a0011 others(2): Show a0001 a0008 a0011 a0015 a0020	a0001c0001 a0001c0008 a0001c0026 others(5): Show a0001c0001 a0001c0008 a0001c0026 a0001c0027 a0008c0011 a0011c0015 a0015c0022 a0020c0019	a0001c0001t0001 a0001c0008t0001 a0001c0026t0001 others(5): Show a0001c0001t0001 a0001c0008t0001 a0001c0026t0001 a0001c0027t0001 a0008c0011t0001 a0011c0015t0001 a0015c0022t0001 a0020c0019t0001	a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0021 others(81): Show a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0051 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0293 a0001c0001t0001g0317 a0001c0008t0001g0054 a0001c0008t0001g0069 a0001c0008t0001g0070 a0001c0026t0001g0162 a0001c0027t0001g0226 a0008c0011t0001g0351 a0008c0011t0001g0352 a0011c0015t0001g0133 a0011c0015t0001g0134 a0015c0022t0001g0152 a0020c0019t0001g0229	92	430	0.2140	-140	c.13 others(11): Show c.1337_*1476del	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding		1359		chr8	TogoVar
TRIML1_chr4_188134441_188152743	188151997	GGGTTGAG others(133): Show GGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGGGAGAGGGGT TGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0053 a0004c0007t0001g0053	1	228	0.0044	-140	c.46 others(11): Show c.4626_*4765del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4255		chr4	TogoVar
USP46_chr4_52585960_52664301	52618081	TAATTAAA others(133): Show TAATTAAAATCATATTCAGGCCAGGCACAGTAGTGGCTCACGCCTATAAT CCCAGTGCTTTGGATGGCTAAGGTGGGAGAATTACTTAAGGCCAGGAGTT CAAGACCAGCCTGGGCAACATAGTGAGGCCCAGACTCTACA	T T	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	192	0.0052	-140	c.562 others(17): Show c.562-7604_562-7465del	USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	4/8			chr4	TogoVar
VARS2_chr6_30909238_30931459	30918653	AACCCTGG others(133): Show AACCCTGGGTTCCTATAAACACTGCTCCTACTTTTTTCTAGTCACTCCTG GGGGCCTCTTCCACCTTGACTACTCCCTGCCCCTTCCCCTTTCCAGTTCT ACTGCCTTTAGCTATGTTGGCAGTGAGAGGTGAGGATGATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG01069.hp2 others(13): Show HG00099.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01433.hp1 HG02738.hp1 HG02896.hp1 HG02897.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03834.hp1 NA18948.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp1	a0004 a0004	a0004c0005 a0004c0009 a0004c0005 a0004c0009	a0004c0005t0001 a0004c0009t0001 a0004c0005t0001 a0004c0009t0001	a0004c0005t0001g0012 a0004c0005t0001g0021 a0004c0005t0001g0037 others(1): Show a0004c0005t0001g0012 a0004c0005t0001g0021 a0004c0005t0001g0037 a0004c0009t0001g0012	16	417	0.0384	-140	c.986 others(14): Show c.986-170_986-31del	VARS2	ENSG00000137411.19	transcript	ENST00000676266.1	protein_coding	10/29		INFO_REALIGN_3_PRIME	chr6	TogoVar
VPS53_chr17_503668_719839	504022	GGGGAGAG others(133): Show GGGGAGAGGGGGACTCACACAGTTAAAGGAGTATTCCAGGGAGGAGGACT CAGAGTTAAGGGAGAATTCCGGGGAGAGGGGGACTCACACAGTTAAAGGA GTATTCCGGGGAGGAGGACTCAGAGTTAAGGGAGGATTCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01070.hp2 HG01071.hp1 others(1): Show HG00323.hp2 HG01070.hp2 HG01071.hp1 HG02738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0036 a0002c0003t0131 a0002c0003t0140 others(1): Show a0002c0003t0036 a0002c0003t0131 a0002c0003t0140 a0002c0003t0144	a0002c0003t0036g0176 a0002c0003t0131g0193 a0002c0003t0140g0194 others(1): Show a0002c0003t0036g0176 a0002c0003t0131g0193 a0002c0003t0140g0194 a0002c0003t0144g0215	4	232	0.0172	-140	c.14 others(13): Show c.14966_*15105del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		4645		chr17	TogoVar
WNK1_chr12_747579_916452	783770	CAAAAAAA others(133): Show CAAAAAAAAAAAAAAAATTATCCAGGCACAGCGGCATGTGCCTGTAGTCC CAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTG AGACCAGGCTAGGCAACAAACCAAGATGCTGTCTCCACCAA	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0013 a0008c0013t0013	a0008c0013t0013g0146 a0008c0013t0013g0146	1	284	0.0035	-140	c.759 others(19): Show c.759+29463_759+29602del	WNK1	ENSG00000060237.19	transcript	ENST00000315939.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
WWP2_chr16_69757332_69946739	69820555	AAAAAAAA others(133): Show AAAAAAAAAAAAAAATAGGACCACACGTATTGTATATTGTGGCCTTGAAA AAACTGTCTTAATTGTGACTACTCCTCCCCAGCATTCCCTGTTTCTCTTC TCTGCTTTATTTTCTTGTAAGCGGTTCTCCCCATATACTAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(68): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG01070.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01515.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02258.hp2 HG02273.hp1 HG02523.hp2 HG02615.hp1 HG02683.hp1 HG02738.hp2 HG02922.hp2 HG03239.hp2 HG03490.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp2 NA18747.hp1 NA18939.hp1 NA18943.hp2 NA18948.hp2 NA18952.hp2 NA18957.hp1 NA18966.hp1 NA18967.hp2 NA18971.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19056.hp2 NA19065.hp1 NA19070.hp1 NA19083.hp1 NA19084.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0017 a0001c0024 a0002c0008	a0001c0001t0001 a0001c0001t0015 a0001c0001t0019 others(8): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0019 a0001c0002t0001 a0001c0002t0003 a0001c0002t0017 a0001c0003t0002 a0001c0004t0001 a0001c0017t0001 a0001c0024t0001 a0002c0008t0001	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 others(68): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0233 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0015g0248 a0001c0001t0019g0021 a0001c0002t0001g0072 a0001c0002t0003g0013 a0001c0002t0003g0016 a0001c0002t0003g0023 a0001c0002t0003g0061 a0001c0002t0003g0236 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0252 a0001c0002t0003g0253 a0001c0002t0003g0255 a0001c0002t0003g0257 a0001c0002t0003g0309 a0001c0002t0017g0254 a0001c0003t0002g0240 a0001c0004t0001g0029 a0001c0004t0001g0035 a0001c0017t0001g0009 a0001c0024t0001g0007 a0002c0008t0001g0074 a0002c0008t0001g0256	71	314	0.2261	-140	c.341 others(19): Show c.341-19570_341-19431del	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	4/23			chr16	TogoVar
ZNF253_chr19_19860882_19899674	19885258	TCTTTCTT others(133): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC CTTTCTTTTCTTTCTTTTCTTTCTTTTCTTTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0332 a0001c0002t0004g0332	1	370	0.0027	-140	c.226 others(17): Show c.226+5113_226+5252del	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding	3/3			chr19	TogoVar
ZNF365_chr10_62369369_62407450	62369862	TATATATA others(133): Show TATATATATATCTCATATATATGTCCCATATATATATATATCTCATATAT ATGTCCCATATATATATATCTCATATATATGTCCCATATATATATATCTC ATATATATGTCCCATATATATATATCTCATATATATGTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00639.hp2 others(41): Show HG00408.hp1 HG00438.hp1 HG00639.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02129.hp2 HG02148.hp2 HG02602.hp1 HG02717.hp1 HG02922.hp1 HG03209.hp2 HG03486.hp2 HG04184.hp2 HG04228.hp1 NA18612.hp2 NA18946.hp1 NA18950.hp1 NA18965.hp2 NA18966.hp1 NA18979.hp2 NA18985.hp1 NA18992.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19068.hp2 NA19074.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0002 a0001c0001t0015 a0001c0001t0027 others(2): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0027 a0001c0006t0002 a0002c0002t0007	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0008 others(22): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0041 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0015g0037 a0001c0001t0027g0155 a0001c0006t0002g0008 a0002c0002t0007g0133 a0002c0002t0007g0139	44	350	0.1257	-140	c.-46 others(11): Show c.-4609_-4470del	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4506		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76392589	GCCGGGTG others(133): Show GCCGGGTGGGGGAAGGGCAGGTGGGAAGACAAGTGGCCAGGTGGAGGGAG GGCAGGCGGGAAGGCAGGTGACCAGGTGGGGGAAAGGTGGATGGGAAGGC AGGTGACCAGGTGGGGGAAAGGTGGATGGGAAGGCAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0055 a0002c0055	a0002c0055t0065 a0002c0055t0065	a0002c0055t0065g0158 a0002c0055t0065g0158	1	346	0.0029	-140	c.181 others(21): Show c.1811-12426_1811-12287del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76473656	CCAGGCTT others(133): Show CCAGGCTTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAAGCTGAGG CAAGAGGACGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATT GCACCACTGCACTCCAGCCTGAGCAACAGGGTGAGACTCCA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0187 a0001c0001t0187	a0001c0001t0187g0089 a0001c0001t0187g0089	1	346	0.0029	-140	c.-27 others(21): Show c.-271-10655_-271-10516del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	1/6			chr18	TogoVar
ZNF609_chr15_64455578_64691068	64577358	CATATATG others(133): Show CATATATGTATATATATACACATATAAATATATACACATATATGTATATA TATACACATATAAATATATACACATATATGTATATATATACACATATAAA TATATACATATATATGTATATATATACACATATAAATATAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0019 a0001c0007t0012g0019	1	176	0.0057	-140	c.748 others(19): Show c.748-45467_748-45328del	ZNF609	ENSG00000180357.10	transcript	ENST00000326648.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZNF736_chr7_64308961_64361634	64339636	TGATATCG others(133): Show TGATATCGGTGTGCATTTTTATGCACACATCATCCTGTTTTTATTACAGT AGCCTTCATATGTAGTTTAAAATCAGAAAGTATAATGCCCCTAGCTTTGT TTTTAATCCTCAAAACTGCTTTGGATATTCAGTGTTTCTTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01099.hp1 HG01361.hp2 others(13): Show HG00323.hp2 HG01099.hp1 HG01361.hp2 HG01928.hp2 HG01993.hp2 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02735.hp1 HG03017.hp2 HG03490.hp1 HG03492.hp2 HG04199.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0074 a0001c0001t0075 others(1): Show a0001c0001t0008 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076	a0001c0001t0008g0039 a0001c0001t0008g0341 a0001c0001t0008g0342 others(12): Show a0001c0001t0008g0039 a0001c0001t0008g0341 a0001c0001t0008g0342 a0001c0001t0008g0343 a0001c0001t0008g0344 a0001c0001t0008g0345 a0001c0001t0008g0347 a0001c0001t0008g0349 a0001c0001t0008g0351 a0001c0001t0008g0352 a0001c0001t0008g0353 a0001c0001t0008g0354 a0001c0001t0074g0350 a0001c0001t0075g0348 a0001c0001t0076g0346	16	408	0.0392	-140	c.226 others(17): Show c.226+2655_226+2794del	ZNF736	ENSG00000234444.10	transcript	ENST00000423484.3	protein_coding	3/3			chr7	TogoVar
ZNF77_chr19_2928218_2949971	2939008	CGCAGTGA others(133): Show CGCAGTGAGGGAATGATGCCACCCTTACCCAAGGAGGCAGTGAGGGAATG ACGCCATCCTTACCCAAGGAGGCAGTGAGGGAATGACGCCACCCTTACCC AAGGAGGCAGTGAGGGAATGACGCCACCCTTACCCAAGGAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00639.hp1 others(4): Show HG00140.hp2 HG00609.hp2 HG00639.hp1 HG01109.hp1 HG02895.hp2 HG03710.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0001 a0001c0001t0001 a0001c0024t0001	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0180 others(4): Show a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0243 a0001c0024t0001g0245	7	448	0.0156	-140	c.130 others(15): Show c.130+133_130+272del	ZNF77	ENSG00000175691.9	transcript	ENST00000314531.5	protein_coding	2/3			chr19	TogoVar
ZNF77_chr19_2928218_2949971	2939024	TGCCACCC others(133): Show TGCCACCCTTACCCAAGGAGGCAGTGAGGGAATGACGCCATCCTTACCCA AGGAGGCAGTGAGGGAATGACGCCACCCTTACCCAAGGAGGCAGTGAGGG AATGACGCCACCCTTACCCAAGGAGGCAGTGAGGGAATGAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0113 a0001c0003t0002g0113	1	448	0.0022	-140	c.130 others(15): Show c.130+117_130+256del	ZNF77	ENSG00000175691.9	transcript	ENST00000314531.5	protein_coding	2/3			chr19	TogoVar
ZNF77_chr19_2928218_2949971	2939130	GCCACCCT others(133): Show GCCACCCTTACCCAAGGAGGCAGTGAGGGAATGACGCCACCCTTACCCAA GGAGGCAGTGAGGGAATGACGCCACCCTTACCCAAGGAGGCAGTGAGGGA ATGACGCCACCCTTACCCAAGGAGGCAGTGAGGGAATGACA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 NA18962.hp1 others(3): Show HG00558.hp2 HG00673.hp2 NA18962.hp1 NA18982.hp2 NA19006.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0097 a0002c0002t0001g0103 a0002c0002t0001g0108 others(3): Show a0002c0002t0001g0097 a0002c0002t0001g0103 a0002c0002t0001g0108 a0002c0002t0001g0224 a0002c0002t0001g0309 a0002c0002t0001g0343	6	448	0.0134	-140	c.130 others(14): Show c.130+11_130+150del	ZNF77	ENSG00000175691.9	transcript	ENST00000314531.5	protein_coding	2/3			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235612	CCTCTGAT others(133): Show CCTCTGATTGACCGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGT GGGCCAAGTCTCCACTCCAGCCTCTGATGGACCGTGGGCCAAGTCTCCAC TCCAGCCTCTGATGGATGGTGGGCCAAGCCTCCACTCCAGT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp1 NA18906.hp1 others(1): Show HG02559.hp1 HG02886.hp1 NA18906.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0003t0001 a0003c0004t0001 a0001c0001t0001 a0001c0003t0001 a0003c0004t0001	a0001c0001t0001g0146 a0001c0001t0001g0347 a0001c0003t0001g0081 others(1): Show a0001c0001t0001g0146 a0001c0001t0001g0347 a0001c0003t0001g0081 a0003c0004t0001g0180	4	362	0.0111	-140	c.-12 others(21): Show c.-127-10579_-127-10440del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56236516	CTCCAGCC others(133): Show CTCCAGCCTCTGATGGATGGTGGGCCAAGCCTCCACTCCAGCCTCTGATG GACGGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGC CTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGCCTCCAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(123): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG02683.hp2 HG02735.hp1 HG02809.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0002c0002 a0002c0011 a0002c0014 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0003t0001 a0001c0006t0001 a0001c0006t0002 a0001c0010t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0011t0001 a0002c0014t0001 a0004c0005t0001 a0004c0005t0003	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0021 others(122): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0341 a0001c0001t0001g0344 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0004g0005 a0001c0001t0007g0084 a0001c0001t0008g0311 a0001c0003t0001g0041 a0001c0003t0001g0147 a0001c0003t0001g0191 a0001c0003t0001g0328 a0001c0003t0001g0329 a0001c0003t0001g0331 a0001c0006t0001g0228 a0001c0006t0002g0007 a0001c0006t0002g0010 a0001c0010t0002g0035 a0002c0002t0001g0097 a0002c0002t0001g0126 a0002c0002t0001g0214 a0002c0002t0001g0256 a0002c0002t0001g0303 a0002c0002t0001g0305 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0037 a0002c0002t0006g0014 a0002c0011t0001g0312 a0002c0014t0001g0272 a0004c0005t0001g0179 a0004c0005t0001g0241 a0004c0005t0003g0003	126	362	0.3481	-140	c.-12 others(21): Show c.-127-11483_-127-11344del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ADARB2_chr10_1172313_1742525	1236435	GCCATGAC others(132): Show GCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAAT GATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAG CCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACAT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03098.hp2 NA19043.hp2 HG00438.hp2 HG03098.hp2 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0006 a0001c0001 a0002c0004 a0003c0006	a0001c0001t0036 a0002c0004t0005 a0003c0006t0067 a0001c0001t0036 a0002c0004t0005 a0003c0006t0067	a0001c0001t0036g0072 a0002c0004t0005g0029 a0003c0006t0067g0080 a0001c0001t0036g0072 a0002c0004t0005g0029 a0003c0006t0067g0080	3	106	0.0283	-139	c.136 others(19): Show c.1362-2729_1362-2591del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AHDC1_chr1_27529245_27609144	27608847	TGTGTGTG others(132): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTTCGATACTGTA CCTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTCTTCAATACTGTACCTGG GGTATGTGTGTGTGTGTGTGTCTTCGATACTGTACCTGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02300.hp1 HG04115.hp1 HG00673.hp1 HG02300.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0012 a0001c0002t0001 a0001c0002t0012	a0001c0002t0001g0122 a0001c0002t0001g0140 a0001c0002t0012g0118 a0001c0002t0001g0122 a0001c0002t0001g0140 a0001c0002t0012g0118	3	180	0.0167	-139	c.-57 others(11): Show c.-5743_-5605del	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding		4704		chr1	TogoVar
AHRR_chr5_316714_443285	391623	ACAGGGCG others(132): Show ACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGG CAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGC AGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0009 a0004c0003t0009	a0004c0003t0009g0224 a0004c0003t0009g0224	1	268	0.0037	-139	c.351 others(19): Show c.351+14910_351+15048del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANO9_chr11_412938_447011	421456	CCCCCACA others(132): Show CCCCCACACAGGGGAGGCCACAGGCTCCCAGACGAACCGCACCTGCACGT GGGCGCACACACACCCACACACACACAGGGGAGGCCACAGGCTCCCAGAT GAACCGCACCCACACGTGGGCGCGCGCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA19007.hp1 HG01099.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0173 a0001c0001t0001g0149 a0001c0001t0001g0173	2	286	0.0070	-139	c.133 others(17): Show c.1335-397_1335-259del	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	15/22			chr11	TogoVar

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