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
ADARB2_chr10_1172313_1742525	1239405	CCCCTCTC others(208): Show CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCC CCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCC TCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTC TGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTG CCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	105	0.0095	-215	c.136 others(19): Show c.1361+2511_1361+2725del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
APCDD1_chr18_10449635_10494949	10462424	TTTCCCCC others(208): Show TTTCCCCCTTGCTCCCTCTCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTC CTTCCTTCCTGTGACCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT GTGACCCTCCCTTCCTCCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTTC CTTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCCTCCTTCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0202 a0001c0001t0021g0202	1	418	0.0024	-215	c.59- others(15): Show c.59-6043_59-5829del	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASAP2_chr2_9201812_9410678	9302060	TGATCCAC others(208): Show TGATCCACCCGCCTTGGCCTCCCAAAGTGCAGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTTTTTTTTTTTTTTTTTCCCAAACACAGATGATGTGA GTTAGAAGCCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGCGCAGTGGTGCAGTCTTGGCTCACTGCAGCCTCTG CCTCTCGCGTTCAAGC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0081 a0002c0001t0001g0081	1	210	0.0048	-215	c.345 others(17): Show c.345+4621_345+4835del	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
CACNG7_chr19_53904278_53948950	53921768	TCCCAGGT others(208): Show TCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGG AGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGG TGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGTAT TGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCCTG GTCATTGGTGGAGTTG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0341 a0001c0001t0011g0341	1	291	0.0034	-215	c.424 others(17): Show c.424+6267_424+6481del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC170_chr6_151489017_151626193	151498938	ACTGTATA others(208): Show ACTGTATAAGTGGAATCAGACTGTATTTGACTCTTCTAGGCACACTGTAT AAGTGGAATCAGACTGTATTTGACTATTCTAGGCACGCTGTATAAGTGGA ATCAGACTGTATTTGACTATTCTAGGCACTCTGTATAAGTGGAATCAGAC TGTATTTGACTATTCTAGGCATGCTGTATAAGTGGAATCATACTGTATTT GACTATTCTAGGCACG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02886.hp2 HG03041.hp2 others(8): Show HG02572.hp1 HG02886.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 NA18522.hp2 NA18906.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0011	a0001c0005 a0002c0002 a0002c0003 others(3): Show a0001c0005 a0002c0002 a0002c0003 a0006c0010 a0006c0030 a0011c0016	a0001c0005t0065 a0002c0002t0014 a0002c0002t0024 others(6): Show a0001c0005t0065 a0002c0002t0014 a0002c0002t0024 a0002c0003t0004 a0002c0003t0006 a0002c0003t0023 a0006c0010t0006 a0006c0030t0061 a0011c0016t0024	a0001c0005t0065g0211 a0002c0002t0014g0215 a0002c0002t0024g0213 others(8): Show a0001c0005t0065g0211 a0002c0002t0014g0215 a0002c0002t0024g0213 a0002c0003t0004g0218 a0002c0003t0004g0219 a0002c0003t0004g0221 a0002c0003t0006g0212 a0002c0003t0023g0220 a0006c0010t0006g0217 a0006c0030t0061g0216 a0011c0016t0024g0214	11	318	0.0346	-215	c.57+ others(15): Show c.57+4785_57+4999del	CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
COTL1_chr16_84560596_84623078	84594011	AATGGACT others(208): Show AATGGACTCATATGCTATGTGGCCTCTGCGGTCTGGCTTTCACTCAGCGT CACATCTCCAAGGATCATCCCTGCTGCCGCATGTGCGGGTCACCACTTCA TTCCTTTTATGGCTGAACAGCACTCCATTGCATGGAGAGAGCACATTTTG CTTATCAGTGCATCAGTTGATAGACATTTGGGATCCTTCCAAAATGGGGT GATTTCACGCCTCCCT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	438	0.0023	-215	c.161 others(17): Show c.161-3964_161-3750del	COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	2/3			chr16	TogoVar
CSMD1_chr8_2930361_4999914	3795554	TATATCTA others(208): Show TATATCTATCATAGATATAGATATATATCTATCATAGATATAGATATATA TCTATCATAGATATAGATATATATCTATCATGTATAGATATAGATATATA TCTATCATAGATATAGATATATATCTATCATGTATAGATATAGATATATA TCTATCAAGTACAGCTATAGATATCTATCATGTACAGCTATAGATACCTA TCATGTACAGCTATAG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0018 a0001c0020t0018	a0001c0020t0018g0065 a0001c0020t0018g0065	1	126	0.0079	-215	c.819 others(19): Show c.819-41727_819-41513del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CUL4A_chr13_113204613_113272108	113232060	CATTACTG others(208): Show CATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCG CCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCC ACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCA CCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGCTGCCACCA CTACCCGCCCACCACT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA20300.hp2 HG02809.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0230 a0001c0001t0005g0331 a0001c0001t0001g0230 a0001c0001t0005g0331	2	390	0.0051	-215	c.513 others(16): Show c.513-1109_513-895del	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
ERICH1_chr8_659200_736224	714225	GGCATCTC others(208): Show GGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCT CTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTG GGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTGGGATGTG CTGCACCCAGGCGGCCTCTTCCCGCATCTCTCGGTGGGATGTGCTGCACC CAGGCGGCCTCTTCCC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0209 a0001c0013t0001g0209	1	370	0.0027	-215	c.169 others(237): Show c.169+1421_169+1636delGGGAAGAGGCCGCCTGGGTGCAGCACAT CCCACCGAGAGATGCGGGAAGAGGCCGCCTGGGTGCAGCACATCCCACCG AGAGATGCCGGAAGAGGCCGCCTGGGTGCAGCACATCCCACCGAGAGATG CCGGAAGAGGCCGCCTGGGTGCAGCACATCCCACCGAGAGATGCCGGAAG AGGCCGCCTGGGTGCAGCACATCCCACCGAGAGATGCCinsT	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	714440	CGCATCTC others(208): Show CGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCT CTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCCGCATCTCTCGGTG GGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTGGGATGTG CTGCACCCAGGCGGCCTCTTCCCGCATCTCTCGGTGGGATGTGCTGCACC CAGGCGGCCTCTTCCG	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA20752.hp1 HG04228.hp1 NA20752.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0011 a0001c0001 a0012c0011	a0001c0001t0002 a0012c0011t0002 a0001c0001t0002 a0012c0011t0002	a0001c0001t0002g0243 a0012c0011t0002g0244 a0001c0001t0002g0243 a0012c0011t0002g0244	2	326	0.0061	-215	c.169 others(17): Show c.169+1206_169+1420del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
FCRL4_chr1_157568747_157603085	157570871	AAAGTTGT others(208): Show AAAGTTGTTTTCAGTCATAGTATTGTCATTACCATTTTCTCATTATTGTA GCCATGCCTTCTTTTGTCTCTGCTACTCTGAGACTCCATCATTATCAGGG AGCCTACTTGTGAGGCAATGTCTTCACCTTTGTCCTTGACCTATTTCTGT TATACTTTCCAAAGGTGCTGATACTTTTATCACTAATGTATTTTTCAACG TTCTGTGGAAATACCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(157): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02698.hp2 HG02735.hp1 HG02976.hp2 HG03017.hp1 HG03195.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19066.hp2 NA19072.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0008 a0009 a0011 a0013	a0001c0001 a0001c0002 a0001c0006 others(8): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0002c0003 a0003c0004 a0005c0008 a0008c0016 a0009c0014 a0011c0011 a0013c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0002t0001 a0001c0002t0010 a0001c0002t0020 a0001c0002t0021 a0001c0002t0023 a0001c0002t0025 a0001c0006t0001 a0001c0007t0008 a0002c0003t0001 a0003c0004t0001 a0003c0004t0022 a0005c0008t0001 a0008c0016t0001 a0009c0014t0001 a0011c0011t0001 a0013c0019t0001	a0001c0001t0001g0165 a0001c0001t0002g0003 a0001c0001t0002g0006 others(74): Show a0001c0001t0001g0165 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0044 a0001c0001t0003g0034 a0001c0001t0005g0111 a0001c0001t0014g0180 a0001c0001t0014g0186 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0065 a0001c0002t0001g0077 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0010g0062 a0001c0002t0010g0063 a0001c0002t0010g0064 a0001c0002t0020g0131 a0001c0002t0021g0157 a0001c0002t0023g0135 a0001c0002t0025g0139 a0001c0006t0001g0016 a0001c0006t0001g0115 a0001c0007t0008g0067 a0001c0007t0008g0068 a0001c0007t0008g0069 a0001c0007t0008g0070 a0002c0003t0001g0015 a0002c0003t0001g0022 a0002c0003t0001g0030 a0002c0003t0001g0120 a0003c0004t0001g0010 a0003c0004t0001g0056 a0003c0004t0022g0158 a0005c0008t0001g0152 a0005c0008t0001g0153 a0005c0008t0001g0154 a0005c0008t0001g0155 a0008c0016t0001g0156 a0009c0014t0001g0134 a0011c0011t0001g0121 a0013c0019t0001g0159	160	400	0.4000	-215	c.44 others(11): Show c.4438_*4652del	FCRL4	ENSG00000163518.11	transcript	ENST00000271532.2	protein_coding		2875		chr1	TogoVar
IPCEF1_chr6_154149496_154361803	154357635	TATATATA others(208): Show TATATATAATATATATATATAATATATATATTATATATATATTATATATA TATTATATATAATATATATATTATATATATATTATATATATAATATATAT ATTATATATATTATATATATATAATATATAAAATATATATATTATATATA TAAAATATATATAATATATATAATATATATATAAAATATATATAATATAT ATAATATATATATAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00738.hp1 HG01256.hp2 others(9): Show HG00558.hp1 HG00738.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG02280.hp2 HG02572.hp1 HG02647.hp2 HG02896.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0023 a0001c0002t0019	a0001c0001t0001g0005 a0001c0001t0001g0054 a0001c0001t0001g0081 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0054 a0001c0001t0001g0081 a0001c0001t0002g0062 a0001c0001t0002g0070 a0001c0001t0005g0003 a0001c0001t0006g0039 a0001c0001t0006g0068 a0001c0001t0007g0004 a0001c0001t0012g0061 a0001c0001t0023g0007 a0001c0002t0019g0069	12	206	0.0583	-215	c.-12 others(11): Show c.-1240_-1026del	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		833		chr6	TogoVar
KNDC1_chr10_133155219_133231412	133163864	GTTCATGT others(208): Show GTTCATGTCCACCTGCCTTCCCAAATCCCTCCTCCCACCTGGGATGGGGG TGGAGTTCGTGGCCACCTGCCTTCCCAAATCCCTCCTCCCACCTGGGATG GGGGTGGAGTTCGTGGCCACCTGCCTTCCCAAATCCCTCCTCCCACGTGG GATGGGGGTGGAGTTCATGTCCACCTGCCTTCCCAAATCCCTCCTCCCAC CTGGGATGGGGGTGGA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0308 a0002c0006t0002g0308	1	330	0.0030	-215	c.102 others(17): Show c.102+3296_103-3302del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	1/29			chr10	TogoVar
KRTAP10-12_chr21_44692172_44703044	44700399	TGCAATCC others(208): Show TGCAATCCCTCAGCGATGAAGGACGGGAGAGAGGAGGCCAGTCCACACGA GAAGAGCCGAGGGAGCAGAGACTTCCCAGAACCCCCCTTGCCAACCAAAC AGCACACAGTGAGAGGGGCCTGGAGGCCCCGGGGGTGCCGCATGAGGCCT TCTATTTTGTCAGAAATTCACGATATCCATGAAGTCCGTGGTTTGAATCT GCCTTGGGGCCGGGCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	444	0.0023	-215	c.24 others(11): Show c.2461_*2675del	KRTAP10-12	ENSG00000189169.8	transcript	ENST00000400365.3	protein_coding		2356		chr21	TogoVar
LORICRIN_chr1_153254687_153267124	153262119	TGAGAATT others(208): Show TGAGAATTTTTAGGTCTCCAAGAGTATTTGTAGTGTTCAAGTTCATCCAT TCCATTCCATTCTTCTCCTTTCCTGCATTCGCTCATTCACACTTACATTC ATTTTACAAATGCACGGACTCTATTGGCGGAAAGGTGAGTGGATAGATGG GAGTCACCAGGAGAGGGAGGAATGGCTGGCAAACGAAGGTCAAACATATG AACATTCTAGTGTACG	T T	splice_region_variant others(1): Show splice_region_variant downstream_gene_variant	LOW	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	420	0.0024	-215	c.23 others(9): Show c.232_*446del	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding	2/2	0		chr1	TogoVar
LRBA_chr4_150259435_151020284	150658515	CCCTCTCC others(208): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTGCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0042 a0003c0042	a0003c0042t0001 a0003c0042t0001	a0003c0042t0001g0180 a0003c0042t0001g0180	1	175	0.0057	-215	c.592 others(21): Show c.5921+24821_5921+25035del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
MAEA_chr4_1284891_1345137	1316957	CTGCAGGC others(208): Show CTGCAGGCCCACCACGGCCCCACACTCTAGACTCACCCCCAGGCCCACCC CGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGTCCCACACTCC AGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCACACTCACCTGCA GGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCC CCACACTCCAGACTCA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	386	0.0026	-215	c.456 others(17): Show c.456+1358_456+1572del	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8			chr4	TogoVar
MGRN1_chr16_4619826_4695972	4648305	GCGGGCTC others(208): Show GCGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCTCGGGGACTCTTCCCG TGGTCACCCGGCTCCTCCTCCCGGGGACTCTTCCCGTGGTCACCCGGGTC CTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCTCGGGGAC TCTTCCCGTGGTCACCTGGCTCCTCCTCCCGGGGGCTCTTCCCGTGGTCA CCCGGGGGCTCCTCCC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02015.hp1 others(3): Show HG01167.hp1 HG01169.hp1 HG02015.hp1 HG02083.hp2 HG02683.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0014 a0001c0001t0001 a0001c0003t0014	a0001c0001t0001g0143 a0001c0001t0001g0233 a0001c0001t0001g0256 others(3): Show a0001c0001t0001g0143 a0001c0001t0001g0233 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0003t0014g0136 a0001c0003t0014g0137	6	332	0.0181	-215	c.89- others(15): Show c.89-2059_89-1845del	MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding	1/16			chr16	TogoVar
MLYCD_chr16_83894115_83932031	83916879	GTGTGGAT others(208): Show GTGTGGATCAGTGCACGTCTGTGTGCGTGTGCACGAGCGTCTCTGTGTGG ATCAGTGCACGTCTGTGTGCGTGTGCACGAGCGTTCTATGTGGATCAGTG CACGCCTGTGTGCGTGTGCACGAGCGTCTCTGTGTGTCAGTGCACGTCTG TGTGCGTGTGCACAAGCGTCTCTGTGTGGATCAGTGCACGTCTGTGTGCG TGTGCACGAGCGTCTC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG02622.hp2 others(4): Show HG02145.hp1 HG02572.hp2 HG02622.hp2 HG02809.hp2 HG02886.hp1 HG02970.hp1 NA18522.hp1	a0003 a0010 a0003 a0010	a0003c0006 a0010c0016 a0003c0006 a0010c0016	a0003c0006t0021 a0003c0006t0186 a0003c0006t0187 others(1): Show a0003c0006t0021 a0003c0006t0186 a0003c0006t0187 a0010c0016t0185	a0003c0006t0021g0013 a0003c0006t0021g0229 a0003c0006t0186g0230 others(2): Show a0003c0006t0021g0013 a0003c0006t0021g0229 a0003c0006t0186g0230 a0003c0006t0187g0013 a0010c0016t0185g0262	7	430	0.0163	-215	c.14 others(11): Show c.1430_*1644del	MLYCD	ENSG00000103150.7	transcript	ENST00000262430.6	protein_coding	5/5	1430	INFO_REALIGN_3_PRIME	chr16	TogoVar
NRCAM_chr7_108142649_108461436	108163799	GGGTGGGG others(208): Show GGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGCGGTAATG AGAGGTCATACTGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGG GTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCA TACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTA ATGAGAGGTCATACCA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0196 a0002c0010t0002g0196	1	206	0.0049	-215	c.346 others(19): Show c.3466+2907_3466+3121del	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
PAQR5_chr15_69293912_69412780	69300733	TTTCTTTC others(208): Show TTTCTTTCTTTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTCTCTCTC TCTCTTTCTTTCTTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TTAGTTCGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCT CTCTCTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01433.hp1 HG01496.hp2 others(3): Show HG01261.hp2 HG01433.hp1 HG01496.hp2 HG03239.hp1 HG03239.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0003 a0001c0001t0001 a0001c0001t0004 a0001c0003t0003	a0001c0001t0001g0266 a0001c0001t0001g0271 a0001c0001t0001g0272 others(3): Show a0001c0001t0001g0266 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0004g0275 a0001c0003t0003g0270	6	214	0.0280	-215	c.-27 others(19): Show c.-277+1693_-277+1907del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PHLPP1_chr18_62710541_62985433	62925458	TGTGCTTA others(208): Show TGTGCTTATTAAATATTCCCAGAGTATTAGTCACATTACAGGCCATAAGT TTCAGTGACTCAGAATATGTGTAAATATCAAAGGGACTAAAAGGGAACAG AAAATTTAGAAGAGCATGATCGATTGACCATGACAACTGGTGCCTTTTGG CAAAGACAGATATTTCTGGCATTTTAAAAATCTGAGTTGTAGGCAACTAT TTTTTTCAGTGACGAG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02451.hp2 others(3): Show HG01891.hp1 HG02280.hp1 HG02451.hp2 HG03516.hp2 NA18522.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0006 a0001c0002 a0002c0003 a0002c0006	a0001c0002t0012 a0002c0003t0001 a0002c0006t0001 a0001c0002t0012 a0002c0003t0001 a0002c0006t0001	a0001c0002t0012g0110 a0002c0003t0001g0111 a0002c0003t0001g0112 others(3): Show a0001c0002t0012g0110 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0159 a0002c0006t0001g0163 a0002c0006t0001g0164	6	190	0.0316	-215	c.296 others(19): Show c.2960+5346_2960+5560del	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIAS4_chr19_4002736_4044386	4030167	TGCCCAGG others(208): Show TGCCCAGGCTGGTCGTAAACTCCTGAGCTCAAGCAGTGCACCTGCCTCAA TCTCCCAAAGTGCTGGGATTACAGTCTTGGCCACTTTCGCACCTGGTCTC TTTTGTCCTTGTAACAATGAAAACAATTTTTTTTAAGTGACACGCAGAGC AATTTTAAAAGAAAGCCTGCCGGCAAGGCGCAGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02735.hp2 HG03927.hp1 others(1): Show HG01106.hp1 HG02735.hp2 HG03927.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0142 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0142 a0001c0001t0001g0210	4	332	0.0120	-215	c.907 others(17): Show c.907+1135_907+1349del	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PKD1_chr16_2083708_2140898	2127901	CCAGGGAG others(208): Show CCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGG GCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGG AGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGG TGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGAGGGAGGGAG AGGTGGGAGGGGCTGG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02965.hp2 HG03130.hp1 others(6): Show HG02145.hp1 HG02965.hp2 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp2 HG06807.hp1 NA21309.hp1	a0007 a0013 a0018 others(2): Show a0007 a0013 a0018 a0019 a0061	a0007c0023 a0013c0022 a0018c0047 others(4): Show a0007c0023 a0013c0022 a0018c0047 a0018c0059 a0019c0057 a0019c0058 a0061c0040	a0007c0023t0012 a0013c0022t0002 a0018c0047t0009 others(4): Show a0007c0023t0012 a0013c0022t0002 a0018c0047t0009 a0018c0059t0009 a0019c0057t0001 a0019c0058t0002 a0061c0040t0001	a0007c0023t0012g0022 a0007c0023t0012g0023 a0013c0022t0002g0172 others(6): Show a0007c0023t0012g0022 a0007c0023t0012g0023 a0013c0022t0002g0172 a0013c0022t0002g0174 a0018c0047t0009g0017 a0018c0059t0009g0018 a0019c0057t0001g0021 a0019c0058t0002g0019 a0061c0040t0001g0020	9	173	0.0520	-215	c.215 others(17): Show c.215+7359_215+7573del	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	1/45			chr16	TogoVar
PKP3_chr11_389209_409908	400808	CCCGCCCC others(208): Show CCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCCG ACCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCC GCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCCGCT CACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACC CCGGACCCCGCTCACA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01884.hp1 HG01175.hp2 HG01884.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0001 a0001c0006t0001 a0001c0005t0001 a0001c0006t0001	a0001c0005t0001g0091 a0001c0006t0001g0049 a0001c0005t0001g0091 a0001c0006t0001g0049	2	214	0.0093	-215	c.173 others(17): Show c.1737+106_1737+320del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRKCZ_chr1_2045411_2190395	2122651	TGGTGGTT others(208): Show TGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTG GTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGCGGT GGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGG TTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTG GTTAGGGTTGTGGTGG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	258	0.0039	-215	c.335 others(19): Show c.335-12610_335-12396del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRTN3_chr19_835999_853175	844239	GCCTCTCC others(208): Show GCCTCTCCCCCGCCCGCGCCTCTCCCCTGCGCGCCTCTCCCCCGCCCGCG CCTCTCCCCCGCCCGCGCCTCTCCCCCGCCCGCGCCTCTCCCTTGCCCGC CCCTCTCCCCTGCCCGCGCCTCTCCCCTGCATGCCTCTCCCTTGCCCGCC CCTCTCCCCTGCCCGCGCCTCTCCCCTGCGCGCCTCTCCCCTGCCCGCGC CTCTCCCCCGGCCGCT	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	414	0.0024	-215	c.369 others(15): Show c.369+232_369+446del	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
RASA3_chr13_113972783_114137623	114087067	GGGAAGTG others(208): Show GGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAAT CCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGG AAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGC GGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATTTATTCCCTTCGTCC TCGCGGGGAAATCACA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043	3	66	0.0455	-215	c.56- others(17): Show c.56-13445_56-13231del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RPGRIP1_chr14_21275083_21356301	21310027	GTGAGCCA others(208): Show GTGAGCCAAGATTGTGCCGCAGCACTCCAGCCTGGGCAACAGAGTGAGAC TGTCTCAAAAACAAAAACGAAAACTTACCTCTCATATTTGCTACAAGGAT TAAATGAGATAATATGTGTGAAATGATTATAATGATCATGATGTGGCAGG TAATGAAACACATAGTAACACATAGCAACTACTCAACTAATTATAGCTGT TGTTATGATCATTCTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19064.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(21): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0013 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0028 a0029 a0031	a0001c0001 a0001c0027 a0002c0002 others(26): Show a0001c0001 a0001c0027 a0002c0002 a0002c0018 a0003c0003 a0004c0007 a0005c0005 a0005c0046 a0006c0006 a0007c0008 a0007c0013 a0008c0009 a0013c0043 a0013c0044 a0015c0029 a0016c0021 a0017c0045 a0018c0025 a0019c0022 a0020c0024 a0021c0042 a0022c0033 a0023c0040 a0024c0032 a0025c0038 a0026c0028 a0028c0030 a0029c0034 a0031c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0027t0004 a0002c0002t0001 a0002c0018t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0004c0007t0001 a0005c0005t0001 a0005c0005t0002 a0005c0046t0002 a0006c0006t0001 a0007c0008t0001 a0007c0013t0001 a0008c0009t0001 a0013c0043t0001 a0013c0044t0001 a0015c0029t0004 a0016c0021t0001 a0017c0045t0001 a0018c0025t0001 a0019c0022t0001 a0020c0024t0001 a0021c0042t0003 a0022c0033t0001 a0023c0040t0001 a0024c0032t0002 a0025c0038t0001 a0026c0028t0001 a0028c0030t0001 a0029c0034t0001 a0031c0023t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(203): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0064 a0001c0001t0001g0101 a0001c0001t0001g0135 a0001c0001t0001g0151 a0001c0001t0001g0187 a0001c0001t0001g0203 a0001c0001t0001g0219 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0002g0004 a0001c0001t0004g0177 a0001c0027t0004g0172 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0100 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0146 a0002c0002t0001g0179 a0002c0002t0001g0181 a0002c0002t0001g0310 a0002c0018t0001g0029 a0002c0018t0001g0030 a0003c0003t0001g0006 a0003c0003t0001g0026 a0003c0003t0001g0027 a0003c0003t0001g0028 a0003c0003t0001g0038 a0003c0003t0001g0046 a0003c0003t0001g0049 a0003c0003t0001g0052 a0003c0003t0001g0065 a0003c0003t0001g0073 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0083 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0105 a0003c0003t0001g0108 a0003c0003t0001g0158 a0003c0003t0001g0164 a0003c0003t0001g0176 a0003c0003t0001g0180 a0003c0003t0001g0186 a0003c0003t0001g0223 a0003c0003t0001g0248 a0003c0003t0001g0307 a0003c0003t0001g0308 a0003c0003t0002g0184 a0003c0003t0002g0185 a0003c0003t0003g0008 a0003c0003t0003g0009 a0003c0003t0003g0010 a0003c0003t0003g0011 a0003c0003t0003g0013 a0003c0003t0005g0014 a0003c0003t0005g0015 a0004c0007t0001g0196 a0004c0007t0001g0204 a0004c0007t0001g0258 a0004c0007t0001g0263 a0004c0007t0001g0280 a0004c0007t0001g0282 a0004c0007t0001g0314 a0004c0007t0001g0315 a0004c0007t0001g0322 a0004c0007t0001g0328 a0005c0005t0001g0020 a0005c0005t0001g0021 a0005c0005t0001g0044 a0005c0005t0001g0109 a0005c0005t0001g0112 a0005c0005t0001g0116 a0005c0005t0001g0117 a0005c0005t0001g0120 a0005c0005t0001g0121 a0005c0005t0001g0127 a0005c0005t0001g0161 a0005c0005t0001g0162 a0005c0005t0001g0299 a0005c0005t0001g0301 a0005c0005t0001g0306 a0005c0005t0002g0302 a0005c0046t0002g0139 a0006c0006t0001g0017 a0006c0006t0001g0031 a0006c0006t0001g0034 a0006c0006t0001g0035 a0006c0006t0001g0037 a0006c0006t0001g0040 a0006c0006t0001g0041 a0006c0006t0001g0048 a0006c0006t0001g0115 a0006c0006t0001g0140 a0006c0006t0001g0174 a0006c0006t0001g0182 a0007c0008t0001g0099 a0007c0008t0001g0113 a0007c0008t0001g0157 a0007c0008t0001g0159 a0007c0008t0001g0163 a0007c0008t0001g0166 a0007c0008t0001g0167 a0007c0008t0001g0178 a0007c0013t0001g0154 a0007c0013t0001g0155 a0007c0013t0001g0165 a0008c0009t0001g0110 a0008c0009t0001g0114 a0008c0009t0001g0252 a0008c0009t0001g0297 a0013c0043t0001g0119 a0013c0044t0001g0042 a0015c0029t0004g0171 a0016c0021t0001g0045 a0017c0045t0001g0111 a0018c0025t0001g0036 a0019c0022t0001g0300 a0020c0024t0001g0039 a0021c0042t0003g0012 a0022c0033t0001g0001 a0023c0040t0001g0259 a0024c0032t0002g0183 a0025c0038t0001g0118 a0026c0028t0001g0169 a0028c0030t0001g0312 a0029c0034t0001g0283 a0031c0023t0001g0298	206	330	0.6242	-215	c.907 others(15): Show c.907-555_907-341del	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RUNX1_chr21_34782801_35054302	34923683	TTCTGTCA others(208): Show TTCTGTCAACCATCATTCAAATGCAAAAGCTCAAGTCTTTCTTTCCCAAC ACTGCAACTCTGTTGATTTTACCACCTCCCCATCCTCTGGTTATGTCCCT CACCTCCTCCCCACTGCTGGTCTCTGGAGTTTACTTAGTAGATCTCTTCG ATTTGGCCTTGACTCCCACCTTGCCATCTTCCACGCTGCTGCTGAGCCAT GTCTCTCGCGTTAAAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00735.hp1 others(30): Show HG00639.hp1 HG00639.hp2 HG00735.hp1 HG01109.hp2 HG01192.hp2 HG01257.hp1 HG01516.hp1 HG01952.hp1 HG01975.hp1 HG02080.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02809.hp1 HG02818.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18957.hp2 NA18983.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0026 a0001c0001t0029 a0001c0002t0001 a0001c0002t0003 a0001c0002t0018 a0001c0003t0001 a0001c0006t0006	a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0039 others(30): Show a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0002g0046 a0001c0001t0002g0060 a0001c0001t0002g0157 a0001c0001t0004g0049 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0089 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0009g0041 a0001c0001t0026g0136 a0001c0001t0029g0155 a0001c0002t0001g0067 a0001c0002t0003g0104 a0001c0002t0003g0108 a0001c0002t0018g0096 a0001c0003t0001g0011 a0001c0003t0001g0143 a0001c0006t0006g0148	33	168	0.1964	-215	c.59- others(17): Show c.59-30935_59-30721del	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SARDH_chr9_133658560_133743352	133668405	ACCCTCCC others(208): Show ACCCTCCCTCTCCCTCTCCCTTCACCCTCCCTCTCCCTTACCCTCCCTCT CCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCT CCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCC CTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCC TCTCCCCTTACCCTCC	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0204 a0002c0002t0001g0204	1	256	0.0039	-215	c.249 others(19): Show c.2496-1750_2496-1536del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SART1_chr11_65956734_65985137	65970995	AGCTGCTG others(208): Show AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGGTGCTGAGGAGGGGGG TGGTGGGATTCAGGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATG GTGGGATTCATGAGCT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01891.hp1 HG02074.hp2 others(27): Show HG00673.hp1 HG01891.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02155.hp2 HG02273.hp2 HG03130.hp2 NA18906.hp2 NA18944.hp1 NA18949.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18999.hp2 NA19001.hp1 NA19005.hp1 NA19009.hp2 NA19030.hp1 NA19060.hp1 NA19075.hp2 NA19084.hp1 NA19089.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0004 a0001c0007 a0003c0008 others(1): Show a0001c0004 a0001c0007 a0003c0008 a0011c0015	a0001c0004t0002 a0001c0004t0014 a0001c0007t0002 others(2): Show a0001c0004t0002 a0001c0004t0014 a0001c0007t0002 a0003c0008t0002 a0011c0015t0002	a0001c0004t0002g0005 a0001c0004t0002g0019 a0001c0004t0002g0020 others(16): Show a0001c0004t0002g0005 a0001c0004t0002g0019 a0001c0004t0002g0020 a0001c0004t0002g0021 a0001c0004t0002g0043 a0001c0004t0002g0044 a0001c0004t0002g0049 a0001c0004t0002g0054 a0001c0004t0002g0055 a0001c0004t0002g0056 a0001c0004t0002g0057 a0001c0004t0002g0058 a0001c0004t0002g0070 a0001c0004t0014g0053 a0001c0007t0002g0018 a0001c0007t0002g0048 a0003c0008t0002g0051 a0003c0008t0002g0052 a0011c0015t0002g0021	30	369	0.0813	-215	c.157 others(19): Show c.1572+3179_1572+3393del	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIGIRR_chr11_400716_419999	400808	CCCGCCCC others(208): Show CCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCCG ACCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCC GCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCCGCT CACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACC CCGGACCCCGCTCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01261.hp1 HG00408.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0151 a0001c0001t0001g0137 a0001c0001t0001g0151	2	240	0.0083	-215	c.48 others(11): Show c.4873_*5087del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4907		chr11	TogoVar
SIMC1_chr5_176233424_176350989	176305304	CGGGAGGG others(208): Show CGGGAGGGAGGTGGGGGGTCAGCCCCGACGCCCGGCCAGCCGTGCCATCC GGGGGGGGGGTCAGCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCG GCCAGCCACCCCGTCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02976.hp2 HG03579.hp2 HG02615.hp2 HG02976.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301	3	357	0.0084	-215	c.173 others(19): Show c.1735-8369_1735-8155del	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SKI_chr1_2223319_2315213	2280807	AGATCTTC others(208): Show AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTT CAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAG AGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAA GACAGGCGGCGGCGGC	A A	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0320 a0001c0001t0041g0320	1	149	0.0067	-215	c.970 others(19): Show c.970-22114_970-21900del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281352	AGACAGGC others(208): Show AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG CGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATC TTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAG AGAGGACGCCCGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0322 a0001c0001t0030g0322	1	320	0.0031	-215	c.970 others(19): Show c.970-21454_970-21240del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282071	GGACGCCC others(208): Show GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGC GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0311 a0001c0001t0006g0311	1	286	0.0035	-215	c.970 others(19): Show c.970-20905_970-20691del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282251	CGAGAAGA others(208): Show CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAG ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTT CAGAGAGAGGACGCCT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0301 a0001c0001t0006g0301	1	313	0.0032	-215	c.970 others(19): Show c.970-20709_970-20495del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1070632	GGGCATCA others(208): Show GGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACA CTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGC CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTG AGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0028 a0001c0006t0001g0028	1	115	0.0087	-215	c.224 others(19): Show c.2241+2786_2241+3000del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC22A18_chr11_2897278_2930246	2921534	TGGGAGCA others(208): Show TGGGAGCAGCCTGCGGCCAAGCCTGTCCCACCGAGCCCATCCCCGGGAGC AGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGC GGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAG CCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCC CACCGAGCCCATCCCC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0069 a0002c0003t0001g0069	1	388	0.0026	-215	c.865 others(15): Show c.865-550_865-336del	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A18_chr11_2897278_2930246	2921552	AAGCCTGT others(208): Show AAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTG TCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACC GAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCA TCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGG GAGCAGCCTGCGGCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG01099.hp1 others(3): Show HG00140.hp2 HG00733.hp1 HG01099.hp1 HG02004.hp2 HG03704.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0196 a0001c0001t0001g0264 a0001c0001t0001g0006 a0001c0001t0001g0196 a0001c0001t0001g0264	6	86	0.0698	-215	c.865 others(15): Show c.865-479_865-265del	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SNTG2_chr2_945849_1372613	1222732	CCTGCTGC others(208): Show CCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATG GAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAG AGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTG GAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGATGGAGGGCGTCT CCCTGTCCTGCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0065 a0004c0004t0001g0065	1	188	0.0053	-215	c.719 others(19): Show c.719+13503_719+13717del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
ST3GAL3_chr1_43702536_43936159	43906259	CTGACTCC others(208): Show CTGACTCCTCCTCCTCCTCTTCCTGCCACTTTTCCTCCCCCTCCTCCTGT TTCTCTTCCTACCACTCTTCTTTCTCCTCCTCCTGTTCCTCTTCCCGCCA CTCTTCCTCCCCATCCTCCTGTTTCCTTTCCCGCCACTTTTCTTCCACCT CCTCCTGTTCCTCTTCCCACCACTCTTCCCCCTCCTCCTCCTGCTCCTCT CCCACCACTCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	272	0.0037	-215	c.744 others(17): Show c.744+6533_744+6747del	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11			chr1	TogoVar
STK38L_chr12_27239286_27330959	27241101	ATATATAT others(208): Show ATATATATTACATATATGACTCTGTATAGTTATATATATTACATATATGA CTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATATA TTACATATATGACTCTGTATAGTTATATATATTACATATATGACTCTGTA TAGTTATATATATTACATATATGACTCTGTATAGTTATATATATTACATA TATGACTCTGTATAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	372	0.0027	-215	c.-32 others(11): Show c.-3242_-3028del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3184		chr12	TogoVar
TEX29_chr13_111315642_111349248	111340476	AATCATAA others(208): Show AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02895.hp2 HG01884.hp1 HG02258.hp1 HG02895.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0030 a0002c0004t0001g0164 a0002c0004t0001g0030 a0002c0004t0001g0164	3	390	0.0077	-215	c.239 others(15): Show c.239+587_239+801del	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TSPEAR_chr21_44492893_44716572	44700399	TGCAATCC others(208): Show TGCAATCCCTCAGCGATGAAGGACGGGAGAGAGGAGGCCAGTCCACACGA GAAGAGCCGAGGGAGCAGAGACTTCCCAGAACCCCCCTTGCCAACCAAAC AGCACACAGTGAGAGGGGCCTGGAGGCCCCGGGGGTGCCGCATGAGGCCT TCTATTTTGTCAGAAATTCACGATATCCATGAAGTCCGTGGTTTGAATCT GCCTTGGGGCCGGGCA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0099 a0001c0006t0001g0099	1	292	0.0034	-215	c.82+ others(17): Show c.82+10819_82+11033del	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	1/11			chr21	TogoVar
TWIST2_chr2_238843085_238915534	238903833	NNNNNNNN others(208): Show NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01243.hp2 HG01884.hp2 others(2): Show HG01099.hp1 HG01243.hp2 HG01884.hp2 HG02145.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0187 a0001c0001t0001g0256 a0001c0001t0001g0311 others(2): Show a0001c0001t0001g0187 a0001c0001t0001g0256 a0001c0001t0001g0311 a0001c0001t0001g0322 a0001c0001t0002g0310	5	63	0.0794	-215	c.36 others(237): Show c.36-6009_*36-5794delNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNTinsG	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
ZDHHC11B_chr5_705355_789729	710591	GTACTGTG others(208): Show GTACTGTGTGCTCCCATTTCTCAGTACTGGGCTCCCATTTCCCAGTACTG TGCTCCCATTTCTCAGTACTGTGCTCCCATTTCCCAGCACTATGCTCCCA TTTCCCAGGACTGTGAGCTTCCATTTCCCAGTACTGTGCTCCCATTTCCC AATGCTATGCTCCATTTCCCAGTGCTGTGAGCTCCCATTTCCCAGTACTG TGCTCCCATTTCCGAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0229 a0001c0002t0051g0229	1	270	0.0037	-215	c.14 others(11): Show c.1484_*1698del	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	14/14	6002		chr5	TogoVar
ABLIM2_chr4_7960327_8163813	8131676	AGCACAGC others(207): Show AGCACAGCAGCCCGCATCCCCAGCACAGCAGCCCGCATCCCTGAGCACAG CAGCCCGCATCCCCAGCACAGCAGCCCGCATCCCTGAGCACAGCAGCCCG CATCCCCTGCACAGCAGCCCGCATCCCTGAGCACAGCAGCCCGCATCCCC AGCACAGCAGCCCGCATCCCTGAGCACAGCAGCCCGCATCCCCTGCACAG CAGCCCGCATCCCCT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	320	0.0031	-214	c.11- others(17): Show c.11-25253_11-25040del	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	1/20			chr4	TogoVar
ADARB2_chr10_1172313_1742525	1237514	CCCTCTGC others(207): Show CCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCAT CTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCT GCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0028 a0002c0004t0028	a0002c0004t0028g0020 a0002c0004t0028g0020	1	106	0.0094	-214	c.136 others(19): Show c.1362-3883_1362-3670del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar

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