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
UNKL_chr16_1358205_1419704	1372943	ACACAGGG others(1036): Show ACACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGC ACACCACACAGGGACTGCCGGCCAACACCGCAGAGACCTCAGCAGCGTGG AGCACACCACACAGGGACTGCCGGCCTACACCGCACAGAGACCTCAGCAG CATGGAACACACCACACAGGGACTGCCGGCCAACACCGCACAGAGACCTC AGCAGCATGGAACACACCGCACAGGGACTGCCGGCCAACACCGCACAGAG ACCTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGCCAACACCGCA CAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACA CCGCACAGAGACCTCAGCAGCGTGGAGCACACCACACAGGGACTGCCGGC CAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGGACTG CCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACACAGG GACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCGC ACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCAC ACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGG AGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAG CGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTC AGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAG ACCTCAGCAGCGTGGGGCACACCGCACAGGGACTGCCGGCCTACACCGCA CAGAGACCTCAGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCAACA CCGCACAGAGACCTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGC CAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTG CCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02622.hp1 HG02897.hp2 others(2): Show HG00639.hp2 HG02622.hp1 HG02897.hp2 HG02965.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0017 a0001c0001t0068 a0001c0007t0055 a0001c0001t0017 a0001c0001t0068 a0001c0007t0055	a0001c0001t0017g0297 a0001c0001t0017g0298 a0001c0001t0017g0300 others(2): Show a0001c0001t0017g0297 a0001c0001t0017g0298 a0001c0001t0017g0300 a0001c0001t0068g0299 a0001c0007t0055g0283	5	320	0.0156	-1043	c.126 others(19): Show c.1265-2375_1265-1333del	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/14			chr16	TogoVar
C13orf46_chr13_113948705_113979076	113954886	AGAGACGA others(1035): Show AGAGACGAGGAGCATCTGGCGGAGACGAGGAGGAGCATCTGGCGGAGACG AGGAGGAGGATCTGGCGGAGACGAGGAGGAGGATCTGGCGGAGACGAGGA GGAGGATCTGGCAGAGAGGAGGAGTAGGATCTGGCGGAGAGGAGGAGTAG GATCTGGCGGAGAGGAGGAGCATCCGGCGGGGATGAGGAGCATCCAGTGG GGATGAGGAGCAGCTGGTGGAGAGGAGCAGCAGCTGGTGGAGACGAGGAG CATCCGGTGGAGATGAGGAGCATCTCGAGGAGAGGAGGAGCATCTGGTGG AGAGGAGGAGCATCCCGTGGAGACGAGGAGCATCCCGTGGAGACGAGGAG CATCTGGCGGAGACGAGGAGCATCTGGCGGAGAGGAGGAGTAGTATCTGG CGGAGAGGAGTAGTATCTGGCAGAGAGGAGTAGTATCTGGTGGAGAGGAG GAGTAGTATCTGGTGGAGAGGAGGAGCATCCGGCGGAGAGGAGGAGCATC CGGCGGAGACGAGGAGCATCCGGCGGTGACGAGGAGCATCCGGCGGAGAT GAGGAGCATCCGGTGGAGAGGAGGAGCATCTCGAGGAGCGGAGGAGCATC TGGCGGAGACGAGGAGCATCTCGTGGAGCGGAGGAGCATCTGGCGGAGAC GAGGAGCATCTCGTGGAGAGGAGGAGCATCTCGTGGAGAGGAGGAGCATC TCGTGGAGCGGAGGAGCATCTGGCAGAGACGAGGAGTAGTGTCTGGCGGA GACGAGGAGTAGTGTCTGGCAGAGACAAGGAGTAGTGTCTGGCAGAGACG AGGAGTAGTGTCTGGCGGAGAGGAGGAGTAGTGTCTGGCAGAGACGAGGA GTAGTGTCTGGCAGAGAGGAGGAGCATCCGGCGGAGACGAGGAGCAGCCG GCGGAGACGAGGAGCAGCCGGCGGAGACGAGGAGCAGCCGGTGGAGACGA GGAGCATCTCGAGGAGAGGAGGAGCATCTCGAGGAGAGGAGGAGCATCCG GTGGAGAGGAGGAGCATCTCGCAGAGAGGAGGAGCATCTCGCG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0149 a0001c0001t0088g0149	1	409	0.0024	-1042	c.84 others(10): Show c.845_*1886del	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	7/7	845		chr13	TogoVar
ZNF516_chr18_76352682_76500242	76392979	AGGCAGGT others(1035): Show AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGT GGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18953.hp1 HG00558.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0138 a0001c0002t0002 a0001c0001t0138 a0001c0002t0002	a0001c0001t0138g0265 a0001c0002t0002g0175 a0001c0001t0138g0265 a0001c0002t0002g0175	2	314	0.0064	-1042	c.181 others(21): Show c.1811-13718_1811-12677del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
DHCR24_chr1_54844627_54892195	54876671	ATTCACCC others(1034): Show ATTCACCCTTCCTAGTTCTTCAGAATTACTAATGTTAATAACACAGTGTA TTTACTTTGGTTTTTTTTTCCCCACACATACTGTATTGGTACTGTGAACC GCAAATATCAGAGACAGGTCTCAGTTAATCCAGAAAGTTTATTTTGCCAA GATTGAGGATGTGCGCCTCTGATACAGCCTCAGTACGTCCTGACAACATG TGCCCAAGGAGGCTGGTGCACAGCTTGATCTTACACATTTTAGGGAGACA GAACACATCAATCAATATATGTAAGAAGTATAGTGGTTCTGTCCAGGAAG GCGGGGACAACTTGAAGCAGGGAGAGGGCTTGCGGTCACAGGTAGATAAG AGACAAATGGCTGCATTCTTTTCAGTTTCTGATAAGCCTTTCCAAAGGAG CTAATCAGAATATGCATCTATCTCAGTGAGCAGAGGGATGACTTTGAATA GAATGCGGAAGCAGGTTTGTCCTGAGCAGTTCCCAGCTTGACTTTTCCCT TAGTTTAGTAATTTGGGGGCCCCAAGATTTTCCTTTCACACTATTTTGTA TGTTTTAAACACAACACACACAAACCAAAAGCATATCTCATTTTCTGTTT TGCCTTTTTAAAATTTAACACTATACTATGACCATCATCTCTTATCATTA CACATTCTTGGAACACATGATTTTTAATGTATACATCCCTTGGACTTCTA CTTCTAGCCGAAGTGGAATAACAGGAACCACATTTACCCTGCTGCCTGAA AAAAAAACCTGACAAAATATATGAAATAAGAGTTTTCAATGCAGTGGACA TAAACAATTAAAGTTAGTGATCCCTCAGAGACAGGAAACAAGGTGAGCTC TGAGGCGGGAGGACTGCTTGAGGCCAGGGGTTCGAGACCAGCCAGGACAA CATAGCAAGACCTAAAAATAAAAAAATAAAAAATTATTTTAAAAAAAGGT GAGCTCTAGGGATGGCCCATTTAACTGCCTGGAGTTAGGCAGTGCAGGGA GGGAAACCCAGGTGGTGGAGTCCAGTGGACTTTCTAAGAGTT	A A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18969.hp2 NA18954.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0020	2	352	0.0057	-1041	c.388 others(16): Show c.388-1665_388-625del	DHCR24	ENSG00000116133.13	transcript	ENST00000371269.9	protein_coding	2/8			chr1	TogoVar
FAM149A_chr4_186099704_186180337	186175985	CTAACAGG others(1034): Show CTAACAGGAGCTGAGGGACTGAGGTCCCTTTTGGACTATGGGAAATATGA AATAAGAAGCCACTGGAGCAGTTGAGTTTTGGGGATAGAATGATATAATC GACAAGAGATGATCCTGTTTCAGTCAGATGATAGTGGTAAGGCTGATGAG AATCCCAGGACTTTGCATGTGTTTTGAAATTTGAGCCAAAAGATGTGCTG TTGGATGAGAGGTGGAGTGTGTCTACCAAAAGAATCGAGAATGCCTCCAG GCTTTTGGCTTCACACTTGGAAGGATGGTGTTGACACTCACTGAAATTGG AAAGACTGCAAGGGGAACACGTTTGGCAGCATGAGGGGCAAGTTATGTGT GAGATGCCAATTAGATGCCTAAGTGGAGATATTGAGATATTTGGATATCC ACACTTGGGTGTGGAGGTGAGGTATAGACTGGATGTATAAATTTGGGGAT TGTCAGCACGTAGATGGTATTTAAGAACTGAAATGGATGAGGCAACCAAG AAAATGAGTGTAGAGAAATGGAGGAAAAAGAAGTACTGAGCCTTGTGCCT TTTAACATCTAAAGGCCTGGGATGTGAAGGAAAACCAGCAAAGCAGACTG AGAAAGAATGGCTGGTGAAGGGAAATAAGAGTCAGGAGAATGTGGCGTCC TCAAAGTATGTGTGTGTTTGTGCGGGGGAAGTGTTTCAAGGAAGTGATAG GGACTCAAGTATGTTGAATGCTGTTGATGAGTCAATTACGATGAGGTCTG AGAATCAGACTAAAGGTCTAGCCACATGGAAGTTACTGGTGGCCTTGACA AGATCTGCTAGGTGAATGGACAAGGCGAAAGTAGGCTTGCAGTGGGTTTG GGAGAAAAGAAGAAGAGAGAAATCCAAGACAGTAGTCATGGGCAAGTCTT CCAGGGAATTTTTCTGTACAGGGGAGTAGAGTATGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGCATGCACGTGTGTTTCCTAGTAAGGTTCATCTT GATGAATGTCATTATTCAGTATAAAAATGTTGATCCAAAAAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(116): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01167.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02886.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03654.hp2 HG03927.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18956.hp2 NA18961.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19068.hp2 NA19077.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0005 a0006 a0007 a0011 a0013 a0014 a0020 a0024 a0030	a0001c0001 a0001c0005 a0001c0010 others(18): Show a0001c0001 a0001c0005 a0001c0010 a0001c0014 a0002c0004 a0002c0007 a0004c0003 a0004c0008 a0005c0006 a0006c0009 a0006c0029 a0006c0045 a0006c0059 a0007c0011 a0011c0027 a0013c0017 a0014c0025 a0014c0058 a0020c0046 a0024c0061 a0030c0041	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(39): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0048 a0001c0001t0052 a0001c0005t0003 a0001c0010t0021 a0001c0010t0043 a0001c0014t0018 a0001c0014t0042 a0002c0004t0003 a0002c0004t0010 a0002c0004t0051 a0002c0007t0003 a0002c0007t0011 a0002c0007t0013 a0002c0007t0021 a0002c0007t0038 a0004c0003t0006 a0004c0008t0006 a0004c0008t0026 a0005c0006t0003 a0005c0006t0006 a0005c0006t0023 a0006c0009t0008 a0006c0009t0013 a0006c0009t0022 a0006c0009t0029 a0006c0009t0032 a0006c0009t0055 a0006c0029t0013 a0006c0029t0022 a0006c0045t0034 a0006c0059t0013 a0007c0011t0008 a0011c0027t0044 a0013c0017t0006 a0014c0025t0008 a0014c0058t0045 a0020c0046t0018 a0024c0061t0023 a0030c0041t0003	a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 others(114): Show a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0057 a0001c0001t0003g0063 a0001c0001t0003g0073 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0095 a0001c0001t0003g0098 a0001c0001t0003g0108 a0001c0001t0003g0112 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0151 a0001c0001t0003g0234 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0006g0030 a0001c0001t0006g0380 a0001c0001t0010g0332 a0001c0001t0010g0333 a0001c0001t0010g0337 a0001c0001t0010g0360 a0001c0001t0010g0377 a0001c0001t0010g0378 a0001c0001t0048g0084 a0001c0001t0052g0043 a0001c0005t0003g0138 a0001c0010t0021g0240 a0001c0010t0021g0241 a0001c0010t0043g0252 a0001c0014t0018g0003 a0001c0014t0018g0010 a0001c0014t0018g0011 a0001c0014t0042g0005 a0002c0004t0003g0001 a0002c0004t0003g0040 a0002c0004t0003g0122 a0002c0004t0003g0259 a0002c0004t0003g0310 a0002c0004t0003g0311 a0002c0004t0010g0317 a0002c0004t0010g0351 a0002c0004t0051g0053 a0002c0007t0003g0265 a0002c0007t0011g0239 a0002c0007t0011g0253 a0002c0007t0011g0256 a0002c0007t0011g0263 a0002c0007t0011g0264 a0002c0007t0011g0273 a0002c0007t0011g0275 a0002c0007t0013g0269 a0002c0007t0021g0274 a0002c0007t0038g0302 a0004c0003t0006g0220 a0004c0008t0006g0160 a0004c0008t0006g0167 a0004c0008t0006g0190 a0004c0008t0006g0193 a0004c0008t0006g0215 a0004c0008t0006g0216 a0004c0008t0006g0235 a0004c0008t0026g0173 a0004c0008t0026g0176 a0005c0006t0003g0385 a0005c0006t0006g0194 a0005c0006t0006g0195 a0005c0006t0023g0015 a0006c0009t0008g0002 a0006c0009t0013g0029 a0006c0009t0013g0226 a0006c0009t0013g0227 a0006c0009t0022g0028 a0006c0009t0029g0304 a0006c0009t0032g0225 a0006c0009t0055g0357 a0006c0029t0013g0258 a0006c0029t0022g0257 a0006c0045t0034g0008 a0006c0059t0013g0316 a0007c0011t0008g0165 a0007c0011t0008g0172 a0007c0011t0008g0202 a0007c0011t0008g0203 a0007c0011t0008g0206 a0007c0011t0008g0300 a0011c0027t0044g0200 a0013c0017t0006g0192 a0013c0017t0006g0196 a0014c0025t0008g0026 a0014c0058t0045g0288 a0020c0046t0018g0006 a0024c0061t0023g0246 a0030c0041t0003g0044	119	388	0.3067	-1041	c.39 others(11): Show c.3999_*5039del	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding		649		chr4	TogoVar
UBOX5_chr20_3102573_3164865	3104433	CCACCATG others(1034): Show CCACCATGCCTGGCTAATTTTTGTATTTTTTTTAGAGACAGGGTCTCCCT GTGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAATGATTCTCCCTCC TTGGCCTCCCAAAGAGTTGGAAGTACAGGCGTGAGCCACCACGCCCGGCT GTTTTTTTTGTTTGTTCTATTTTGTTTCTTAAGGTAGTCAAATCTATCAG TCTTTTTCCTTACTGAATCTGAATTTTTTTGTTTGTTTGTTTTAGATGGA GTTTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGCCATCTCGGCTCCC TGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCCACGTCAGCCTCCTG AGTAGCTGGGATTACAGGCACCCGCCACGACGCCGGCTAATTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTCTAACTCC TGACCTCAGGTGATCCGCCCACCTTGGCCACCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCATCTGGCCTGGATTTTGAATTAGGACAGTTTTCCT CACTCCCAGGTTGCGAAGGAGTTCTCTCGTTTTCCATTTATCTCTAGTTC TTCCATGGTTTCATTCGCCCAGTGACTGCAGCGCCACCTGTGGAAAGGTC AGTTTTCCACCATTCCTGCCTTGCAGTACACAAAATTTCCATGTGTAGTT GGGCCTGCCTATGGGTTTTTCATTCTGTTCTGTTCATCTGCCTGTGTATT CGTGGGTTAGTTCTCCCCACCCACAAACCAAACTGTTCTTTTTCAGAGTT TTCCTGGCTACCTTGACTTATTCTTACAAATGAGCTTTATTTTTATTTTT TTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGC GATCCTGGCTAGTGAGATCACTTGAACCTCTGCCTCCCGGGTTCAAGCGA TTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGACGTGCGCCACC ACACCCGGCTAATTTTTTGTCTTTTTAGTAGAGACAGGGTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0331 a0001c0002t0003g0331	1	382	0.0026	-1041	c.46 others(11): Show c.4632_*5672del	UBOX5	ENSG00000185019.17	transcript	ENST00000217173.7	protein_coding		3139		chr20	TogoVar
BRSK2_chr11_1384934_1467689	1429859	TCAGCAGT others(1033): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01975.hp2 HG01978.hp1 others(3): Show HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0007 a0002c0002t0035 a0001c0001t0001 a0002c0002t0007 a0002c0002t0035	a0001c0001t0001g0310 a0002c0002t0007g0291 a0002c0002t0007g0296 others(3): Show a0001c0001t0001g0310 a0002c0002t0007g0291 a0002c0002t0007g0296 a0002c0002t0007g0298 a0002c0002t0007g0306 a0002c0002t0035g0297	6	353	0.0170	-1040	c.92- others(15): Show c.92-6064_92-5025del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1430378	CCAGCAGT others(1033): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCG GGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGC CACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0050 a0002c0002t0050	a0002c0002t0050g0124 a0002c0002t0050g0124	1	342	0.0029	-1040	c.92- others(15): Show c.92-5474_92-4435del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
DHCR24_chr1_54844627_54892195	54876671	ATTCACCC others(1033): Show ATTCACCCTTCCTAGTTCTTCAGAATTACTAATGTTAATAACACAGTGTA TTTACTTTGGTTTTTTTTTCCCCACACATACTGTATTGGTACTGTGAACC GCAAATATCAGAGACAGGTCTCAGTTAATCCAGAAAGTTTATTTTGCCAA GATTGAGGATGTGCGCCTCTGATACAGCCTCAGTACGTCCTGACAACATG TGCCCAAGGAGGCTGGTGCACAGCTTGATCTTACACATTTTAGGGAGACA GAACACATCAATCAATATATGTAAGAAGTATAGTGGTTCTGTCCAGGAAG GCGGGGACAACTTGAAGCAGGGAGAGGGCTTGCGGTCACAGGTAGATAAG AGACAAATGGCTGCATTCTTTTCAGTTTCTGATAAGCCTTTCCAAAGGAG CTAATCAGAATATGCATCTATCTCAGTGAGCAGAGGGATGACTTTGAATA GAATGCGGAAGCAGGTTTGTCCTGAGCAGTTCCCAGCTTGACTTTTCCCT TAGTTTAGTAATTTGGGGGCCCCAAGATTTTCCTTTCACACTATTTTGTA TGTTTTAAACACAACACACACAAACCAAAAGCATATCTCATTTTCTGTTT TGCCTTTTTAAAATTTAACACTATACTATGACCATCATCTCTTATCATTA CACATTCTTGGAACACATGATTTTTAATGTATACATCCCTTGGACTTCTA CTTCTAGCCGAAGTGGAATAACAGGAACCACATTTACCCTGCTGCCTGAA AAAAAAACCTGACAAAATATATGAAATAAGAGTTTTCAATGCAGTGGACA TAAACAATTAAAGTTAGTGATCCCTCAGAGACAGGAAACAAGGTGAGCTC TGAGGCGGGAGGACTGCTTGAGGCCAGGGGTTCGAGACCAGCCAGGACAA CATAGCAAGACCTAAAAATAAAAAAATAAAAAATTATTTTAAAAAAAGGT GAGCTCTAGGGATGGCCCATTTAACTGCCTGGAGTTAGGCAGTGCAGGGA GGGAAACCCAGGTGGTGGAGTCCAGTGGACTTTCTAAGAGT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG02056.hp2 others(25): Show HG00558.hp1 HG00621.hp2 HG02056.hp2 HG02523.hp1 NA18522.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18951.hp2 NA18959.hp2 NA18965.hp1 NA18972.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18983.hp2 NA18986.hp2 NA18994.hp1 NA19003.hp1 NA19005.hp2 NA19057.hp1 NA19066.hp2 NA19070.hp1 NA19072.hp2 NA19080.hp2 NA19082.hp1 NA19088.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0001t0019	a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0059 others(19): Show a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0007g0022 a0001c0001t0007g0064 a0001c0001t0007g0068 a0001c0001t0007g0071 a0001c0001t0007g0075 a0001c0001t0014g0081 a0001c0001t0019g0062	28	378	0.0741	-1040	c.388 others(16): Show c.388-1664_388-625del	DHCR24	ENSG00000116133.13	transcript	ENST00000371269.9	protein_coding	2/8			chr1	TogoVar
DVL1_chr1_1330278_1354418	1350126	AGGAGCGA others(1033): Show AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02132.hp1 HG02895.hp1 HG00735.hp1 HG02132.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0016 a0001c0001t0001g0118 a0001c0001t0007g0038 a0001c0001t0001g0016 a0001c0001t0001g0118 a0001c0001t0007g0038	3	329	0.0091	-1040	c.-21 others(11): Show c.-2101_-1062del	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		709		chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350126	AGGAGCGA others(1033): Show AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	-1040	c.24 others(11): Show c.2438_*3477del	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		2564		chr1	TogoVar
PAFAH1B1_chr17_2588654_2690615	2667301	TCCAGCCT others(1033): Show TCCAGCCTGGGCGACAGAGCCACACTCTGTCTCAAAAAAAAAAAGCAGAC TTAATAGGGTGAAGAAAATTAAAAGATCCTGAAAATGAGGGCCTATGAAG AGGGACAGGAGGTACTCTGAAACGTGTGATTTGGTTCTAAATCTTAAAAG ACAGAATTGGAATAAAATATCATTGTGGCTCCTGAGAGGCATGCTGCCAG GTAAGTTTGATGGTGAATTTGAGAAAGTCGGGTGTCACTAACTGAGTTGA TGTCAGTACATCACCTTGTGCTTGAACAATTTTTGTTCTTGGAGAATGAA AAGTGTGTGTCTTACCTTTAAACGGAGGTTATGTGTGAAATACTGATTGA CAAAACTAGTAATTGATAGGGTGAATCTATACTGCAAAAGAATTCAGTAG AGGATTCATTTAAATTGGGCTTTCCTTGATGTATTTAAAATTGGCTTTCC AGGAGTGTGGGAATATACAAGCTTTTCATTTTATAAATTACGTATTTCAT TAAAAAATTTTTTTCACAGTAAAAATATTATTACCTTTTAATGTTGTGCT TTTTTAATTAGGAAAAGAGTTGTTTTTAAGTTGCCTTTGTTCCGGACACA ATAAAATGACCGTTGTATAAACCACCTACAGAAAGATAAGATAGTTGCAA TATAGGTAGATTTAGGTAGATGCCTCTATCCTAAGGGTTATTTCAAAGTA AGTTACAGATATTAAGTTTCATTTACAAAAGTATAACCAATCGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTG GATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGAGCAACACGGAGAAAC CCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGC CTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCC AGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGG GCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02451.hp2 others(1): Show HG01891.hp2 HG02257.hp1 HG02451.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0132 others(1): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0132 a0001c0001t0001g0171	4	278	0.0144	-1040	c.399 others(16): Show c.399+107_399+1146del	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SMOC2_chr6_168436184_168672992	168560493	GGCCCTGA others(1033): Show GGCCCTGAGATGTGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATT TTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCA TTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGT CATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGT GTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAG GTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGG AGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGA GGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTG GAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCT TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTT CTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCA TTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTG CGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCAC TGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTC ACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTC TCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGC TCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAG GCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACG AGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACA CGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG00099.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0122 a0001c0002t0002g0032 a0001c0001t0004g0122 a0001c0002t0002g0032	2	172	0.0116	-1040	c.637 others(19): Show c.637+11300_637+12339del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560546	GCCCTGAG others(1033): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTT GGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTC TTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGT TCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGC ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGA GGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19012.hp1 NA19079.hp1 HG01243.hp2 NA19012.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0145 a0001c0001t0001g0165 a0001c0002t0002g0001 a0001c0001t0001g0145 a0001c0001t0001g0165 a0001c0002t0002g0001	3	166	0.0181	-1040	c.637 others(19): Show c.637+11369_637+12408del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560572	ATTCTTGG others(1033): Show ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCT CACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACAC GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGAC ACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCC TGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGC CCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	92	0.0109	-1040	c.637 others(19): Show c.637+11420_637+12459del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
DHCR24_chr1_54844627_54892195	54876671	ATTCACCC others(1032): Show ATTCACCCTTCCTAGTTCTTCAGAATTACTAATGTTAATAACACAGTGTA TTTACTTTGGTTTTTTTTTCCCCACACATACTGTATTGGTACTGTGAACC GCAAATATCAGAGACAGGTCTCAGTTAATCCAGAAAGTTTATTTTGCCAA GATTGAGGATGTGCGCCTCTGATACAGCCTCAGTACGTCCTGACAACATG TGCCCAAGGAGGCTGGTGCACAGCTTGATCTTACACATTTTAGGGAGACA GAACACATCAATCAATATATGTAAGAAGTATAGTGGTTCTGTCCAGGAAG GCGGGGACAACTTGAAGCAGGGAGAGGGCTTGCGGTCACAGGTAGATAAG AGACAAATGGCTGCATTCTTTTCAGTTTCTGATAAGCCTTTCCAAAGGAG CTAATCAGAATATGCATCTATCTCAGTGAGCAGAGGGATGACTTTGAATA GAATGCGGAAGCAGGTTTGTCCTGAGCAGTTCCCAGCTTGACTTTTCCCT TAGTTTAGTAATTTGGGGGCCCCAAGATTTTCCTTTCACACTATTTTGTA TGTTTTAAACACAACACACACAAACCAAAAGCATATCTCATTTTCTGTTT TGCCTTTTTAAAATTTAACACTATACTATGACCATCATCTCTTATCATTA CACATTCTTGGAACACATGATTTTTAATGTATACATCCCTTGGACTTCTA CTTCTAGCCGAAGTGGAATAACAGGAACCACATTTACCCTGCTGCCTGAA AAAAAAACCTGACAAAATATATGAAATAAGAGTTTTCAATGCAGTGGACA TAAACAATTAAAGTTAGTGATCCCTCAGAGACAGGAAACAAGGTGAGCTC TGAGGCGGGAGGACTGCTTGAGGCCAGGGGTTCGAGACCAGCCAGGACAA CATAGCAAGACCTAAAAATAAAAAAATAAAAAATTATTTTAAAAAAAGGT GAGCTCTAGGGATGGCCCATTTAACTGCCTGGAGTTAGGCAGTGCAGGGA GGGAAACCCAGGTGGTGGAGTCCAGTGGACTTTCTAAGAG	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18950.hp2 NA18953.hp2 others(1): Show NA18947.hp1 NA18950.hp2 NA18953.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 others(1): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079	4	354	0.0113	-1039	c.388 others(16): Show c.388-1663_388-625del	DHCR24	ENSG00000116133.13	transcript	ENST00000371269.9	protein_coding	2/8			chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350135	GGGGGGAG others(1032): Show GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	336	0.0030	-1039	c.24 others(11): Show c.2430_*3468del	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		2555		chr1	TogoVar
SLC10A7_chr4_146248981_146526940	146401121	TCATTCAG others(1032): Show TCATTCAGCAATGATCAATCAGTATTTTTCTGAGAGATCATAAGCTACTC TGACGGCAGGCGATAAAATCTTCTGGTTGGAAAGACCTTCTCTATTCTAA TCTCCTGATTTACACTGGCTGCTGATCCCTTAGTAACCCTTAGTGCTTCA CAATCCTCCTATACCCACTGTCCTCCCCAAATTATGGTTACTATCTGACT TGGTTCATCTTCTGGATGATGATGGATGACTTAATTACAGAAATGAAGGC AAAAATGAAATACAAAAGGAGAGGCCAGATATGAACAAAGGGGCAAACAC ACAGCCCTCTTACTATGGTTCCTTATTACTAAGCTTTGTATTTCCCAATG CCCAGGAGACCTGCATAACCACACTGGTGAGAGACGGAATAAAGAAAGAA CAAAATGAGGGAAAGCAACACTTATTGCATGCCTCTTACACGCCAGTAAC TCTGCCTAGGTTTTTCATGTTTTTTTTCAGGTTGGTTGCTGAACAATCCT GAGTTGCCTGTGGATGAGGAAACAGTGAACAAAAAGAGATAAGAGTCTTG CCCAAATTCACAGAGCAGCACAGACTGTGTGATTCGAAATACCACTATCT TCCCATTATAAAACACTGTGGATTCCATATGCTTGAAATATATTAAATCG AGAAGAAATAACATGGAAAATAGTAAGTCAAATAATATAGAAGTGTAACT TGTACTTTGGGGTGCTTTGAATCAGTATTTTTTGTTCAGTTTTCATAGGT CATCTAAGCTAATAATTAGATCAAAATAAACTTTATATTTTTAAAACCCA GATTAAAGATGATAATTAGGTATTAAATCTGTTTCAAATGGAATAAAAAT TTACATCTATACCACCACTACAAAAAATGTACACATATAGACACTCAATT ATTATCTTCATACCTAATTGAGAGTGAGTTGCAGACATGATACCCCATTG GTGGAGAATAGCATCTAGAAACCAAGATCCAGCATGCTAGGTACACTTAT TGCTACTGGAGTGAAACTGATTTTAGGCTCTTTCAGTGGA	T T	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18957.hp1 NA19010.hp1 others(1): Show NA18947.hp1 NA18957.hp1 NA19010.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0084 a0001c0001t0005g0115 a0001c0001t0005g0116 others(1): Show a0001c0001t0005g0084 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0122	4	242	0.0165	-1039	c.435 others(19): Show c.435+40623_435+41661del	SLC10A7	ENSG00000120519.16	transcript	ENST00000335472.12	protein_coding	5/11			chr4	TogoVar
CSMD1_chr8_2930361_4999914	4360726	CCTCGTGA others(1031): Show CCTCGTGATCCGCCTACCTCGGCCTCCAAAAGTGCTGGGACTACAGGTGT GAGCCACTGCACCCGGCCCCTCGGGGTTCGTAATCTCACAGTTCCTGACA CAATTAATCACGGAGCTTCTGGTCTCCTTTATCTATCTTTAATATTGGTA AAGCACTGACAGGTCCCCTGAAAGTAGAATTAGGCTTCTGATAGCAGGTG AATTTCTTTTTAATCATTTCATGGGACTTGAGGAATACTTGACTGACAGT AGATATTTGACTAATATTTGAAGACATTTTAAAATAAAATATTTCTTAAA ATTAATGCTATATTGAAAAGAAAAACTGGATTTTTCGTGCCCAACAGATG TTTTGTCAGTTCTCATGCTACACACTGTGTGGATGCTGAAATAGTCACTG AATCTCTGAGCTGAAGCTTTATCATTTGTAGAATGGGCTAAATTAGACTT ATTAAGCTGTGAGGCTTAAATTAGACAACTGGTTTTCAGTGGAATACCTA AGTTACTCAAAAAGCAGGAAGGAAAAGGCGTAAAAGAAAATATTACTACT TACTCATAAATAATACAAGATAAAGAAACTTATTTTTAAAATATTAGATA ATGATATATCTGATATCTGCAGTCATCTGTGATTTTTAATTGATTTAATG TAGCCTCATGAAGGGCTAACTGTGTCTCAGGCACTGCTTCTAAGTAATCT GAAAAACTAACTCATTTTATCTTCATTACAGCCTAATAAGGTCGACATTA TTGCATTTCCACTTTACAGATTAGAAGACGGAGGCCTGCAAGATCAGGTA ACGACCACGGTCCTACAAAGTTAAAAAGTCGTAGAGTTCAAGTTTGTTCC TCTGTGAAACGCAGTTGCCCTATTTTATACTCCCAACTCTCTGCTTTGCT GTCCCTTTTGTTTTGTTTTTCCTTAAAGAAGTTTCCTATCAGCAGCCAGG TGCGACGGCTTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAAG TGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGG	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0012 a0001c0047t0012	a0001c0047t0012g0024 a0001c0047t0012g0024	1	126	0.0079	-1038	c.415 others(19): Show c.415+58189_415+59226del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
GRTP1_chr13_113319163_113369130	113346045	CGAGAGCA others(1031): Show CGAGAGCAGACCCGGGAGGACCTCTGCGGCTGAGCAGACCTGGGAAGACA TCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACC CGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTG AGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACC TCTGTGGCCGAGAGCAGATCCGGGAGGACCTCTGTGGCTGAGCGGATCTG GGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAG AGCGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTC TGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGG AGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAG TGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTG TGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGG AGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAG CGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTG GCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAG GACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCA GACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTG GACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAG GACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGA TCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGC TGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGA CCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCA	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	267	0.0037	-1038	c.466 others(17): Show c.466-2124_466-1087del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
PPP2R2D_chr10_131896008_131964834	131958129	CGTCCCCC others(1031): Show CGTCCCCCTGTGGAGATGAAGGGGTGTGCTGATCCCCCATGCCCTGTGGA GATGGAGGTGTGTGCTGATCCCTCGTGCCCCTGTGGAGATAGAGGTGTGT ACTGATCCCCTGTTCCCCTATCTAGATGAAGGTGTGTACTGCTGATCCCC CGTCCCCCTGTGGAGATGAAGGTGTGTGCTGATCCCCCATCCCCCTGTGG AGATGAAGGGGTGTGCTGATCCCCCGTCTTCCTGTGGAGATGAAGGTGTG TGCTGATTCCTCATGCCCCTGTGGAGATGGAGGTGTGTGCTGATCCCCCA TCCCCCTGTGGGGATGAAGGTGTGTGCTGATCCCCCATCCCCCTGTGGAG ATGAAGGGGTATGCTGATCCCCCGTCCCCCTGTGGAGATGAAGGTGTGTG CTGATCCCCCATCCCCCTGTGGAGATGAAGGGGTATGCTGATCCCCTGTC CCCCTGTGGGGATGAAGGTGTGTGCTGATCTCTTGTCCCCCTGTGGAGAT GGAGGTGTGTGCTGATCCCCCATCCCCCTGTGGAGATGAAGATGTGTGCT GATCCCCCGTCCTCCTGTGGAGATGAAGGTGTGTGCTGCTTCCTCGTGCC CCTGTGGAGATGGAGGTGTGTGCTGGTCCCCCGTCCCCCTGTGGAGATGG AGGTGTGTGCTGATCCCCCGTCCCCCTGTGGAGATGGAGGCGTGTGCTGA TCCCCCATCCCCCTGTGGAGATGAAGGCGTGTGCTGATCCGCCATCCCAC TGTGGAGATGAAGGCGTGTGCTGATCCCCCATCCCCCTGTGGAGATAAAG GTGTGTGCTGATCCCCCATCCCCCTGTGGAGATGAAGGCGTGTGCTGATC CGCCATCCCACTGTGGAGATGAAGGCGTGTGCTGATCCCCCATCCCCCTG TGGAGATGAAGGCGTGTGCTCATCCCCCATCCCCCTGTGGAGATGAAGGC GTGTGCTGATCCGCCATCCCACTGTGGAGATGAAGGTGTGTGCTGATCCC CCATCCCCCTGTGGAGATGAAGGTGTGTGCTGATCCCCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0049 a0001c0001t0047g0049	1	392	0.0026	-1038	c.21 others(11): Show c.2188_*3225del	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	9/9	2188	INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKCA_chr17_66297613_66815743	66798502	GGTGGTGA others(1031): Show GGTGGTGACGGTGGTGACGGTGGTGGTGATGGTGGTGACGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01515.hp1 HG01081.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0045 a0001c0003t0001 a0001c0001t0045 a0001c0003t0001	a0001c0001t0045g0004 a0001c0003t0001g0164 a0001c0001t0045g0004 a0001c0003t0001g0164	2	156	0.0128	-1038	c.185 others(19): Show c.1855-5367_1855-4330del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
ZNF804B_chr7_88754700_89343528	89048134	GTCATTCT others(1031): Show GTCATTCTTATGCCTTTGCATCCTCATAGCTTAGCCCCCGCTTATTAGTG AGAACATATGATGTTCACAAACACACACACACACACACACACAATGGAAT ACTACTCAGCTGTAAAAAGGAATGAATTAATGGCATTTGCAGCAACCTGA ATGAGATAAGAGATTATTATTCTAAGTGAAGTAACGAAGGAATGAAGTCT TTTTTAAAAGGACTGGTTTCTGTTTAACCTTCAGGGAAGAAAGCCTAATA GCTGTTAGCCACCTGGGAGGGGATATAATGAGGGGTCTGTAACCTCCTAT CTAGTCCTGACAGGCAACTCAGCTTTCATGGTCTCTTTGTAGCCCAGTTG GCCAAGAGATGGTCTGTTCAGTTGGTTGGGATGCTTAGAATTTTATTTTT ATTTATCAATATTATGATTGTTGCAATGAATGATAATATATTATCATTAA AAATAATAAAAAGCCCTTAATTCAGTTACCTTAATTAGGTAATTTAATTA GAAATACTCCTGCTAGTATTTTGAAAGATGGTCTTGAAACACAGAAGAAA TTATGTAAAGATTATAGAGACTGTTTATATAATTTTTTGATTTAAAAAAC TCATTTCAATTAATTGGTTTTAGTACAGGTCTCGTCATTCCTTAAGTACT GCTCTTAATTATTTCCTTACTTGGATTGGCTAGTGGTTTTTCTCTTCTTA TGAATTTTATGAAATAAACCAAGGTCAAGTTTAAGGTAGAAAAAGATGCT TTTAGAGAAGGCAAAGTAGGGTCTTAAATATGGAATTTGTATGACAACTT ATCTTGCCCTTTGCTTCTGTTTCAGGGGTATACTTCTTATAAAATATTTG CTGACAAGGAAGAAACACAATTTCAGGTTCTTGTAAATAGCCAAGAGTAT TTGTAGTCAGTTTTCCCAAACGCATTTGCTTTGTATTGTACAAAGTCGCT ATTGTCTATCATTAACATATCATTAACAATCATATTATGTGAACACTTAA TAATTATGTACCTTCATGCTGAGACTCCTTGACTTACCA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA21309.hp2 NA20300.hp1 NA21309.hp2	a0002 a0022 a0002 a0022	a0002c0007 a0022c0019 a0002c0007 a0022c0019	a0002c0007t0001 a0022c0019t0003 a0002c0007t0001 a0022c0019t0003	a0002c0007t0001g0140 a0022c0019t0003g0053 a0002c0007t0001g0140 a0022c0019t0003g0053	2	166	0.0120	-1038	c.109 others(21): Show c.109-170019_109-168982del	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ERC1_chr12_986223_1500931	1089158	GTTGTTGT others(1030): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGC AATATGCCTATGCCTGGCCCATTATTATTATTGTTGTTGTTGTTGAAAGT GCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATT GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0004 a0001c0001t0077 a0004c0005t0004 a0001c0001t0004 a0001c0001t0077 a0004c0005t0004	a0001c0001t0004g0024 a0001c0001t0077g0049 a0004c0005t0004g0055 a0001c0001t0004g0024 a0001c0001t0077g0049 a0004c0005t0004g0055	3	135	0.0222	-1037	c.108 others(19): Show c.1086+5588_1086+6624del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(1030): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	273	0.0037	-1037	c.21 others(11): Show c.2127_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
SERPINF2_chr17_1737871_1760265	1740824	GACAGTGA others(1030): Show GACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCA GGGAGTGAGGAGCCGGACACTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAAGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAAGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAAGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGAGCTGGACAGTGAGGATGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCG GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGACAG TGAGGGTGGGAAGTGGCCCGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	444	0.0023	-1037	c.-20 others(11): Show c.-2088_-1052del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2046		chr17	TogoVar
VEGFA_chr6_43765211_43791487	43787931	CTTTTTTT others(1030): Show CTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCC AGGCTGGAGTACAATGGTGCGATCTCGGGTCACTGCAACCTCCGCCTCCC AGGTTCAAGGGATTCTCCCTCCTCAGCCTCCCGAGTAGCTGGGATTACAG GCACGCACCATCATGCCCGACTAATTTTTGTGTTTTCGTAGAGACGGGGT TTCACCATGTTGGCCAGGCTGGCCTCAAACCCTTGACCTCAGGTGATCTG CCCGCCTTGGCCTCCCAAAGTGCTGGCATTACAGATGTGAGCCACCGCGC CCGGCAGGTAGGGGCTTTTTTCATCCCATCTGGATTTTTGCTGGAGCCTT TAAATTGGCCGCCTGGCTTCTCCTCTGGCCTTCCTTTAGTTGAATCTCAC ACAACTGCCAGAGTGAGCCTGTTAAAATGTGAGTTAAGTTTTGGCACCTT TTGACTCAAAACCTTCCAGAGATAGTTTTACTCGGAGAAAAACCCAAATG GCCTTAAAAGGCCTGCACCATTTGGGCTGCCTCCCTGACTACTCAATGAC TTCGGGCCCCGCCTTGGCCACGTGGCTTCAGCCATGCTGGTTTCACTGTT CCTCAGATGCAGTGGGCATGCTCCTGCCACAGGGCCTTTGCACTGGCTGT CCTCTCTTCCTGGAGCACTCTTTCCTACACATGACCCATGTTGTTGGATC CCTCACTTTCAAGTCTTGTTACCTTCTCAGTGAGGCTTACCCTGACCACT GCATTTACGATTGACCCCCCTTCCCACTCCACACTTGGGTACCTCCTTTT CACCATCCCTTCTTTTTCCGCTTAGTACCTGTAGCCACCTGACAGACTCT AGAACAGTGCTACCCAACAGAAATATAGTGTGAGCCACTTATGGAGTTTA AAATTTTCCAGGCACCAGAGTTCGAAAGCTATAAAAAGGTAAAATTAATT TTAATAATTTATTTTAGCTCCAACATATCTAGAATATCACTTCAGGATCT AATCAATGGAAACATTATTAATGAGTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0024 a0001c0002t0003g0024	1	220	0.0045	-1037	c.33 others(11): Show c.3370_*4406del	VEGFA	ENSG00000112715.26	transcript	ENST00000672860.3	protein_coding		1445		chr6	TogoVar
WDR81_chr17_1719704_1743585	1740824	GACAGTGA others(1030): Show GACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCA GGGAGTGAGGAGCCGGACACTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAAGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAAGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAAGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGAGCTGGACAGTGAGGATGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCG GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGACAG TGAGGGTGGGAAGTGGCCCGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	430	0.0023	-1037	c.31 others(11): Show c.3140_*4176del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		2240		chr17	TogoVar
ZNF879_chr5_179018804_179040064	179039027	AGCCTCTC others(1030): Show AGCCTCTCCAGTAGCTGAGATTACAGGCACCTGCTACCACGGCCGGCTAA TTTTTTTTTTTTTTTTTTTAGTAGAGATGGGGTTTCACTATCTTCGGCAG GCTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCCCTGTGCTGGGCCTATGCTATGCTTT TTTGGTAAGGAAACCATGGAAGTAATACTGTATTCTGAGTTCATCATCAC ACCCTATTGGGGGATTGTGATTTACTCCAATTGCTGGTCATTTTAACTTT GCTGTCTTCATTCAGATGGTATCTGCCAGATTTTGCACTGTGAAGTTACA ATCTTCCTTTTATAATCATCAGTCTCTTAACAGGAAATCCTATGAGTGTA TGTATATGTATTTTTACTTGTCAAACTTGATTTACCAAGGCCAGACACAG TGGCTCATGCCTGTATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATTG CTTGAAGCCAAGAGTTTGAGACCATGGGAAACATGGTGAGACCCCATCTC TACAAAAAGTAAACTATCTGTGCATGGTAGCATGTGCCTGCAGTCCCAGC TACTCAGGAGGCTGAAGTGTGTTGATCGCTTGAACCTGGGAGTCTGAGGC AGCAATGAGCTGTGATCATGCCACTGCACTGCAGCCTGGGCCACAGAGTA AGACCCTGTCTCTAAAAATGATTTAAAAATAACATAATATAAAATAAATT ATAATATATAAAACATTGTTTTAAAAACTTGATTCTCAGTCCGGTGCGGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCA CCTGAGGTTGGGAGTTTGAGTCCAGCCTGACCAACATGGAGAAACCCCAT CTATACTAAAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCGTGTA ATCCCAGTTACTTGGGAGGCTGAGTCAGGAGAATTGCTTTAACCCGGGAG ATGGAGATTGCAATGAGCTGAGATTGTGCTTTTGCACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	454	0.0022	-1037	c.53 others(11): Show c.5388_*6424del	ZNF879	ENSG00000234284.7	transcript	ENST00000444149.7	protein_coding		3964		chr5	TogoVar
AKAP6_chr14_32324298_32842684	32484098	ATAGGTGT others(1029): Show ATAGGTGTTGGTATAGAATAGGGTCCCCTCCCCTGGCTGGGTCGAAGAAG GTGGTGTTGAGGTTATGGTCTGTTAACAGCATGGTGATGCCAGCAGCTAG GACTGGGAGGGATAGGAGAAGTAAGACTGCTGTGATTAGGACGGATCAGA CGAAAAGGGGTGTTTGGTATTGGGTTATGGCAGGGGGTTTTATATTAATG ATTGTTGTAATGAAGTTAATGGCTCCTAGGATAGAGGAGATGCCTGCTAG ATGCAAGGAGAAGATGGTTAGATCTACGGAAGCTCCAGGGTGGGAGTAGT TCCCTGCTAAGGGAGGGTAGACTGTCCAACCTGTTCCGGCGCCGGCTTCC ACTATGGCAGATGCAAGCAGAAGTAGGAGAGAAGGGGGTAGGAGTCAGAA GCTTATGTTGTTTATGCGGGGGAATGCCATATCGGGGGCACCGATTTTTA GGGGAACTAGTCAGTTGCCAAAGCCTCCGATTATGATAGGTATCACTATG AAGAAGATTATTACAAATGCATGGGCTGTGACGATGACATTGTAGATGTG GTCGTTACCTAGAAGGTTGCCTGGTTGGCCTAGCTCAGCCCAAATAAGGA GACTTAGAGCTGTGCCCAGGACTCCAGCTCATGCGCCGAATAGTAGGTAC AGTGTTCCAATGTCTTTGTGGTTTGTAGAGAACAATCAACGGTCGGCGAA CATCAGTGGGATAAGGTAAAATGGCTGAGTGAAGCATTGGACTGTAAATC TAAAGACAGGGGCTAAGCCTCTTTTTACCAGCTCTGAGGTGATTTTCATA TTGAATTGCAAATTCGAAGAAGCAGCTTCAAACCTGGCGGGGCTTCTCCC GCCTTTTTTTCCTGCGGCGGGAGAAGTAGATTGAAGCGTTGATTAGGGTG TTTAGCTGTTAACTAAGTGTTTATGGGTTTAAGTCCAATTGATCTAGTAA GGGCTTAGCTTAATTAAAGTGGCTGATTTGCGTTCAGTTGATGCAGAGTG GGGTTTTGCAGTCCTTAGCTGCAAATGAGTCCTTAGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(126): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00639.hp1 HG01071.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18983.hp1 NA18983.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19077.hp2 NA19081.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029	a0001c0001 a0001c0004 a0001c0006 others(50): Show a0001c0001 a0001c0004 a0001c0006 a0001c0010 a0001c0019 a0001c0045 a0002c0003 a0002c0005 a0002c0017 a0002c0023 a0002c0032 a0002c0057 a0003c0002 a0003c0009 a0003c0025 a0003c0058 a0004c0007 a0004c0013 a0004c0018 a0004c0021 a0004c0024 a0004c0027 a0004c0040 a0005c0011 a0005c0050 a0005c0059 a0006c0008 a0006c0026 a0007c0015 a0007c0053 a0008c0014 a0009c0020 a0009c0047 a0010c0012 a0011c0016 a0012c0054 a0013c0048 a0013c0052 a0014c0029 a0015c0037 a0016c0056 a0018c0041 a0019c0042 a0020c0028 a0021c0035 a0022c0030 a0023c0033 a0024c0022 a0025c0036 a0026c0051 a0027c0038 a0028c0046 a0029c0039	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(93): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 a0001c0001t0020 a0001c0001t0038 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0004t0001 a0001c0004t0006 a0001c0004t0007 a0001c0004t0013 a0001c0004t0049 a0001c0006t0001 a0001c0006t0015 a0001c0006t0017 a0001c0006t0032 a0001c0010t0001 a0001c0010t0006 a0001c0019t0001 a0001c0045t0009 a0002c0003t0002 a0002c0003t0006 a0002c0003t0025 a0002c0003t0044 a0002c0005t0001 a0002c0005t0002 a0002c0005t0011 a0002c0017t0002 a0002c0023t0006 a0002c0032t0051 a0002c0057t0026 a0003c0002t0001 a0003c0002t0003 a0003c0002t0014 a0003c0002t0024 a0003c0002t0041 a0003c0009t0003 a0003c0009t0011 a0003c0025t0004 a0003c0058t0021 a0004c0007t0005 a0004c0007t0010 a0004c0007t0018 a0004c0007t0022 a0004c0013t0008 a0004c0013t0011 a0004c0013t0014 a0004c0018t0004 a0004c0021t0004 a0004c0024t0031 a0004c0027t0004 a0004c0040t0050 a0005c0011t0001 a0005c0011t0006 a0005c0011t0009 a0005c0011t0013 a0005c0050t0007 a0005c0059t0010 a0006c0008t0004 a0006c0008t0012 a0006c0008t0016 a0006c0026t0016 a0007c0015t0008 a0007c0015t0018 a0007c0015t0035 a0007c0053t0019 a0008c0014t0002 a0008c0014t0027 a0008c0014t0028 a0009c0020t0003 a0009c0047t0003 a0010c0012t0037 a0010c0012t0039 a0010c0012t0040 a0011c0016t0002 a0012c0054t0005 a0013c0048t0034 a0013c0052t0012 a0014c0029t0029 a0015c0037t0003 a0016c0056t0003 a0018c0041t0008 a0019c0042t0015 a0020c0028t0033 a0021c0035t0001 a0022c0030t0001 a0023c0033t0019 a0024c0022t0013 a0025c0036t0005 a0026c0051t0002 a0027c0038t0005 a0028c0046t0001 a0029c0039t0023	a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0049 others(126): Show a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0005g0044 a0001c0001t0008g0129 a0001c0001t0017g0112 a0001c0001t0020g0072 a0001c0001t0020g0130 a0001c0001t0038g0039 a0001c0001t0045g0004 a0001c0001t0046g0034 a0001c0001t0047g0128 a0001c0001t0048g0015 a0001c0004t0001g0145 a0001c0004t0006g0119 a0001c0004t0007g0013 a0001c0004t0007g0020 a0001c0004t0007g0109 a0001c0004t0013g0116 a0001c0004t0049g0146 a0001c0006t0001g0057 a0001c0006t0015g0135 a0001c0006t0017g0079 a0001c0006t0032g0120 a0001c0010t0001g0080 a0001c0010t0001g0084 a0001c0010t0006g0006 a0001c0010t0006g0032 a0001c0010t0006g0075 a0001c0019t0001g0002 a0001c0019t0001g0143 a0001c0045t0009g0094 a0002c0003t0002g0025 a0002c0003t0002g0035 a0002c0003t0002g0037 a0002c0003t0002g0068 a0002c0003t0002g0074 a0002c0003t0002g0096 a0002c0003t0006g0108 a0002c0003t0025g0012 a0002c0003t0044g0110 a0002c0005t0001g0066 a0002c0005t0002g0027 a0002c0005t0002g0053 a0002c0005t0002g0061 a0002c0005t0002g0091 a0002c0005t0011g0017 a0002c0017t0002g0077 a0002c0023t0006g0014 a0002c0032t0051g0093 a0002c0057t0026g0003 a0003c0002t0001g0001 a0003c0002t0001g0052 a0003c0002t0001g0102 a0003c0002t0003g0070 a0003c0002t0003g0082 a0003c0002t0003g0152 a0003c0002t0014g0097 a0003c0002t0024g0073 a0003c0002t0041g0019 a0003c0009t0003g0036 a0003c0009t0003g0081 a0003c0009t0011g0103 a0003c0025t0004g0115 a0003c0058t0021g0062 a0004c0007t0005g0101 a0004c0007t0010g0132 a0004c0007t0010g0133 a0004c0007t0018g0042 a0004c0007t0022g0022 a0004c0013t0008g0138 a0004c0013t0011g0007 a0004c0013t0014g0055 a0004c0018t0004g0041 a0004c0018t0004g0065 a0004c0021t0004g0131 a0004c0024t0031g0113 a0004c0027t0004g0107 a0004c0040t0050g0121 a0005c0011t0001g0083 a0005c0011t0006g0005 a0005c0011t0009g0153 a0005c0011t0013g0051 a0005c0050t0007g0150 a0005c0059t0010g0028 a0006c0008t0004g0114 a0006c0008t0004g0117 a0006c0008t0012g0038 a0006c0008t0012g0090 a0006c0008t0016g0043 a0006c0026t0016g0111 a0007c0015t0008g0127 a0007c0015t0018g0089 a0007c0015t0035g0033 a0007c0053t0019g0076 a0008c0014t0002g0018 a0008c0014t0027g0054 a0008c0014t0028g0021 a0009c0020t0003g0095 a0009c0047t0003g0031 a0010c0012t0037g0123 a0010c0012t0039g0136 a0010c0012t0040g0104 a0011c0016t0002g0088 a0012c0054t0005g0105 a0013c0048t0034g0118 a0013c0052t0012g0141 a0014c0029t0029g0060 a0015c0037t0003g0100 a0016c0056t0003g0071 a0018c0041t0008g0047 a0019c0042t0015g0151 a0020c0028t0033g0148 a0021c0035t0001g0124 a0022c0030t0001g0154 a0023c0033t0019g0147 a0024c0022t0013g0045 a0025c0036t0005g0140 a0026c0051t0002g0011 a0027c0038t0005g0048 a0028c0046t0001g0126 a0029c0039t0023g0142	129	152	0.8487	-1036	c.324 others(19): Show c.324+50282_325-50420del	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13			chr14	TogoVar
CACNA1B_chr9_137872782_138129619	138017897	TCAGGTGC others(1029): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGC AGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCT GCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAG TGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAG TTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGC CCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTG GCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTT AGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCC TGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGC CAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02895.hp2 HG03139.hp2 others(6): Show HG02015.hp2 HG02895.hp2 HG03139.hp2 NA18939.hp2 NA18951.hp2 NA18952.hp2 NA19000.hp1 NA19080.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0013 others(2): Show a0001c0002 a0001c0003 a0001c0013 a0001c0022 a0001c0032	a0001c0002t0001 a0001c0002t0004 a0001c0003t0006 others(4): Show a0001c0002t0001 a0001c0002t0004 a0001c0003t0006 a0001c0003t0010 a0001c0013t0008 a0001c0022t0020 a0001c0032t0001	a0001c0002t0001g0073 a0001c0002t0004g0067 a0001c0002t0004g0070 others(6): Show a0001c0002t0001g0073 a0001c0002t0004g0067 a0001c0002t0004g0070 a0001c0002t0004g0071 a0001c0003t0006g0110 a0001c0003t0010g0133 a0001c0013t0008g0066 a0001c0022t0020g0002 a0001c0032t0001g0072	9	103	0.0874	-1036	c.226 others(19): Show c.2267+4773_2268-3968del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(1029): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGC AGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCT GCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAG TGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAG TTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGC CCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTG GCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTT AGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCC TGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGC CAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01943.hp1 HG02074.hp1 HG00673.hp2 HG01943.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0007 a0001c0002 a0001c0005 a0001c0007	a0001c0002t0001 a0001c0005t0004 a0001c0007t0003 a0001c0002t0001 a0001c0005t0004 a0001c0007t0003	a0001c0002t0001g0057 a0001c0005t0004g0089 a0001c0007t0003g0034 a0001c0002t0001g0057 a0001c0005t0004g0089 a0001c0007t0003g0034	3	133	0.0226	-1036	c.226 others(19): Show c.2268-4441_2268-3406del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
LMLN_chr3_197955217_198048720	198003629	TTATCTAT others(1029): Show TTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGAC ATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTG ACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGCCATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACATATCATAC GTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCAT ACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACATATC ATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACATA TCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACA TATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATA CATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGA TACATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACA GATACATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATA CAGATACATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTA TACAGATACATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATC TATACAGATACATATCATACGTAGTAAGTTTGACATCTATATATCATCTA TACAGATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATC TATACAGATACATATCATACGTAGTAAGTTTGACATC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	196	0.0051	-1036	c.131 others(18): Show c.1319+656_1319+1691del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MLPH_chr2_237482251_237560322	237544162	GGGGGGAC others(1029): Show GGGGGGACAGTGGTGAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAG TTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGA GTCGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAATGGGGACAGTAGT GAGTGGGGGACCGTGGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGG TGAGTCGGGGGACAGTGGTGAATGGGCACGGTAGTGAGTGGGGGGACAGT AGTGAGTGGGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGGGGGAC AGTGGTGAGTGGGGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTT GGGGGGGACATTGTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTG TGGTGGTGGTCAGTGGTGATTGGGCACTGTAGTGAGTGGGGGGACAGTGG TGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGT GGTGAGTGGGCACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGT GGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGAC AGTGGTGAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGG ACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGG ACAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGGGGACAGTGGTGAATGGGGACAGTAGTGAGTGGGG GACCGTGGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGGTGGAGGG GGCACTATTGGTAGGGGGGACAATTATTGGGGGGGGGCACTAATTGTGAG GGGGGACCAGTGTTGAGTGGGGGAATAGTTATGAGTGGGGACAGTGGTGA GTGGGGGGACAGTGGTGAGTGGAGGGCACAGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0084 a0002c0002t0011g0084	1	275	0.0036	-1036	c.153 others(19): Show c.1539+1505_1540-1407del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDTC1_chr1_27229632_27313636	27244839	CTGCTATG others(1029): Show CTGCTATGGGAGGTAGCATGTCCAGAGGAAAGAGAATACAGATGTTTTAG GTTCCATCTCTGGTCTGCTGCTAACCAGTAGTGTCTACTTAAAATCTCAG CATAGTGTCATCGGAAGGGGTTTTGTAGCTTATCTCAGAGTCCACCTCTC ATTTTACAAACGGCAGAATAGACTGAGAGAGCAAAATGCCTCACTCAGGG TCATACAGCCAGTTAAAGGCAGAGGCTGGCTTGGAGCACAAGACCCTAGA TCTCCCAGTCCAGTGCTTCTTCCTCAGTACCATGTAGTATTCTGCTTCAC TTCTCCCTTGTTAAATGGGGATTATTATCGTACATGAATATTCATAGCAG CATTATTCATAGCAGCGTTATATTAGCTTTCTAACTTCCTAAAAGGATTG TTGCAAAGTTCAAATTAAAAGCTTGAACAAAAGTGCTTTGATAGGTATAA AACATTGTGTGTAAGGCAGTCATGCCATTATTCATTCAGCAAATATTTAT TGGTGCCTGCTAAGCTTACATCACTCCTGGAAGACCAGTGGGATCAATGG ATGAATCGGATGAAGAGCAGGCCCTCAGCATGCTTTTAATCTTCTAAGAA AGAGAAGCCACGTAAATAACCACAGCTCAAGGTAGGAGACAGATGAAGGA AAGGCTAAGAATGGAATTTTCTTTCCATAACCTGTGATTTTGAGGTAGAG AAAAGAAAGGGTTTTTTTTGGTTTTTTTTTTTTGTTTGTTTGTATTTTTG AGACAGAGTCTTGCCCTGTCACCCAGGGTGGAGTGCAATGGCGCAATCTC GGCTCACTGCAACCTCCGCCTCCCGGGTTCAGACGATTCTCCTGCCTCAG CTTCCCGAGTAGCTGGGATTATAGGTGCCTGCCACCATGCACAGCTAATT TCTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCTGGTCT CGAACTCCTGACCTCCTGGTCCACCCGCCTTGGCCTCCCAGAAAGTGCTG GGATTACAGGCATGAGCCACTGTAATCCTATGGGACA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	212	0.0047	-1036	c.-10 others(21): Show c.-100+10073_-100+11108del	WDTC1	ENSG00000142784.16	transcript	ENST00000319394.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
YBEY_chr21_46281342_46302751	46293436	TCAGCCAC others(1029): Show TCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC ATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGAGTCAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	279	0.0036	-1036	c.339 others(17): Show c.339+1982_340-1683del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCM1_chr8_17917988_18034948	17994714	CTTTGGGA others(1028): Show CTTTGGGATAAGTGCCATTTTAACAGAGGTGAGATGATTTCTCGTTGTAG TTTTGATTGTCATTTCCGTGATCATGTTGAGCACCTTTTATGTGCCTGTT TGCCATTTGTATGTCGTCTTTTGAGAAGTGTGTCTTCAGATCTTCTGCAC ATTTTAAAATTAGATTATTAGATTTTTTCCTATAGAGTTTGAACTCTTTA TATATGCTGGTTATTAATCCCTTGTCGGATGGTTTGCACATATTTTCTCT CATTCTGTGGGTTGTCTCTTCACTTTGTTGTTTGTTTCTTTTCTTGTGCA GAAGCTTTTTAACTTGATGTGATCCCATTTGTCTGCTTTTGCTTTGGTTG CCAGTGCTTGTGGGGTATCACTCAAGAAATTTTTGCCCAGACCAATGTCC TGCAGAGTTTCCCCACTGTTTTCATATAATAGTTTCATAGTATGAGGTCT TAGATTTATGTCTTTAATCCATTTTGATTTGACTTTTGTATATGGTGAGA GATAGAGGTCTAGTTTCATTCCTCTGCATATGGATATCCAGTTACCCCAG CACCATTTATTGTGAAGAGACTGTCTTTTCCCCACTGTATGTTCTTGGCA CCTTTGTTGAAAATGAGTTTATTGTAGGTATGTGGATTTGTTTCTGGGTT CTCTGTTCTGTTCTATCGGTCTGTGTTTCTGGGTTCTCTGTTCTGTTCTG TCGGTCTGTGTTTCTGTTGTTTGTATGCCAGTACCACGCTGTTTTGGTTA CTATAGCTCTGTGGTATAATTTGAAGGCAGGTTAATGTGATTCTTCCAGT TTTGTTCTTTTTGCTCAAGATAGCTTTGGCTGTTCTGAGCTTTTTTTGTG GTTCCTATAAATTTTAGGATTCTTTTTTCTCTGTGAAGAATGTCATTGGT ATTTTGATCACAATTGTATTGAATCTGTAGATTGCTTCGGGGAGTACAGA CATTTTAACAATATTGATTTTTCCAATCCATGAACATGGAATATCTTTCC CTTTTTGTGTCTTTTTAAATTTCTTTCATCAGTGTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02572.hp2 others(5): Show HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02717.hp2 HG03041.hp2 HG03471.hp2 NA18906.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0008 a0005c0005t0044 a0005c0005t0055 a0005c0005t0008 a0005c0005t0044 a0005c0005t0055	a0005c0005t0008g0168 a0005c0005t0008g0169 a0005c0005t0008g0174 others(5): Show a0005c0005t0008g0168 a0005c0005t0008g0169 a0005c0005t0008g0174 a0005c0005t0008g0332 a0005c0005t0008g0333 a0005c0005t0008g0334 a0005c0005t0044g0335 a0005c0005t0055g0167	8	366	0.0219	-1035	c.482 others(19): Show c.4827+1098_4827+2132del	PCM1	ENSG00000078674.20	transcript	ENST00000325083.13	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr8	TogoVar
SKI_chr1_2223319_2315213	2280720	CGATCTTC others(1028): Show CGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCT TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA GAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACG CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG CGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGC GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC TTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAG AGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC GCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAG AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACA GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAG ATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA GAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG GACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCC GAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGA CAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG TGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTC AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0057 a0001c0001t0013g0057	1	286	0.0035	-1035	c.970 others(19): Show c.970-22242_970-21208del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADARB2_chr10_1172313_1742525	1235637	CCCCTCTG others(1027): Show CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCT TTCAGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCG AGAGCCACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTC CCACTGCTGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGG ATTTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGA CGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTG TAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTG GCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAG AGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCA CCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTG GGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGT CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTCACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCG GTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGC CATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGA TTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCC CCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCC TTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0087 a0001c0001t0061g0087	1	100	0.0100	-1034	c.136 others(19): Show c.1362-2826_1362-1793del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
DPH7_chr9_137549444_137583925	137566692	ACTCTGTC others(1027): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGG TGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	281	0.0036	-1034	c.641 others(17): Show c.641-2572_641-1539del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
KLC1_chr14_103624211_103706544	103670515	GTAGTAGA others(1027): Show GTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGTTCTCAATCTCTT GACCTCCTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC TGAGCCACTGTGCCCGGCGCTGTTTTTTGTGTTTTTAAAAATTTTTCGGT TTTAGGTTTTGAGAAATAACCACTGTGATGTGTTTTTAACTGACTATTAG CTGAAAACAACTCATTTAATTAGAGAATAGCCCACAAAACAAAGCCAGAT TGGCCCATACAAATCAGTGTTTAAGACTCAATTACAGGCTGGGTGCAGTG GCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCAC TTGAGCCTAGGAAGTTTAAGACCAGCCTGGGTAACATAGTGAGACCTCGT CTCTAAAGAAAAAAAAAAGAAAAGAAGGTCCAGTTATGAGGCGTGTGCAT TTAGAAAGGTGCAGTCCTGAGTCTGATGCTGTCCAAGCCTGATATGGCCT AGAAGTGACTCTGATTGAAGAAGACATGTCTGAGGACTAGAGATGGAAAG CCTGGGAGCATTGCATTTGACAGTGGAACATGTGCTTGTCAATAAGAAAA ACATGATTAAAGATAAATTCACCAAATATGCTTTATGAAGCTGAAAAATG AAATAATTATTATTATAACTAAAGATTAACTCAGAGCTATAGATTAAGTC AATGTCATATATATTTAATACCAGCTGCTACAGTTCATGGTAATTAGGTA TTAAAAAATATAACAACTTGTTCATTTCAGCAGTGCTGTGTATGACAATC TCTTTAGATGTTATGAAGATTCGGGTATTGGGTCTATCCGATGAGTGACC ACAAATTGTGTTTTTTTTTTTCTGAAACGGAGTCTTGCTGTGTCGCCCAG GCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAGCCTTCGCCTCCTGG ATTCCAGGAATTCTCTTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGC ATGTGCCACAACACCCGGCTAATTTTTGTATTTTT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	366	0.0027	-1034	c.987 others(16): Show c.987+266_987+1299del	KLC1	ENSG00000126214.22	transcript	ENST00000334553.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr14	TogoVar
MRPS28_chr8_79913717_80035259	79957587	AAGTGCCT others(1027): Show AAGTGCCTGTAGTCCCAGAAACTCTGAAGGCTGAGGGCAAGGGGATCACT TGAGCCAAGAAGGTCAAGGATATAGTGAGCCATGATTGTGCCACACTGCA TTACAGCCTGGGAGACAAAGTAAGCCCATCTCAAAAACAATAGCAACAAC AAACAAACAAATTAAACAACATATGAGACAGTACCCAGTATACACTAGAA AAATCCACAAATCTTTGCTGAACAAGTGCATTTTTAACTCTGCTGATCAT GTGGTTGAAGAAGACACAAATGTCTTAAACAGTCATCTTTTAGAGCTGTA TAGATTCACATATTACAGTGTGGATATTACATTCTATTAAAATGAAGCTA GGCTAATGATTTAGTCCACATGTAACATATTTACTATTCTAAAGTGGTAT ACTAAAACTTTAACAGCTTTATTGAGATATAATTCACATATCATAAAATC TACCCAAAGTGTATAATTCAGTGACTTTGAATATATTCTCAGAGCTGTAC AGCTTTTACCATAACCTAATTTTAGAACATTTTCATCACCCCAAAAAAGA AACCCTGTACTCATTAGCAATCTCTCCCCCTCCCCTATTCTAGACTCTGG GGATGACTAATCTACTTTCTGTCTCTGTGGATTTGTCTATTCTGAACATT TCATATAAATGGAATCATACAATATATGATCTTTTGTGAATGGCTTCTTT CATTTGGCATAATGTTTTCAGGGTTCATCCATGTTGTATTACAACTTCTT TATCTTTTACGATGTTTTCCAAAGTCAGAGTTGGAAGAAAAACAGGTTAT CATCACTTGTGAAAATCTCCTCCAAACAGCATACCACGAAATGGGACTCC TGAGTGAAGGAGAAAATGTTGAGATTCAGAAGAACTCAAGGCTATTTTAA AAATAATTTTTATTGCTAATTTTATTTGGTACACTAACAATTTTTTAAAA GGCATTTATTAAGAAAGAGAGTCACTAATTGATTTTGTTGAGTTTTTCTT TAATGTAAAAAGGGCTGTCCTGAGCCTTTGCTGAT	A A	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19081.hp2 NA19080.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0067 a0001c0001t0001g0068	2	298	0.0067	-1034	c.396 others(19): Show c.396-39473_396-38440del	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	2/2			chr8	TogoVar
PPP3CA_chr4_101018418_101352526	101038996	TTCAGACA others(1027): Show TTCAGACAGAATAAGAAATAAAAGCATTATTGGTAAATCTGAGGCACAAT AAATAAACAAGTGTTTACTCAGAATTCCAATTAAGCTTATGACCTTCATA TACGCCTTTGTCCCCACAGAACATTTTTCTAGCCATACAGGCCTCCTTGT GGTCCTCAAAACTGCCAGTTTTGTCTTTACTTAAGTATCTTTGCACTTGC TATTGTCTTTGCCTTGAACTCCCTTACCTCATTTCTTCATGAAGGTCACC TATGCTTGCCCAAATACCATTACTCAGAAAGTTTTTTGTTGACCACACAC TAAAAGAAGTTCTTTATCTCCCACTTGCTCCATCTCTACATTGCCTTATT TCTTTTCTCCATGGTACATAATCAATGCTTTAAGTTTCACTATATTTACT TATGGCATGAATGAATAAGCCCTGAAAATGTAGTTGGAAACGTACAGCAA TAGAGCAAAGGTAGCCTCATTCAATAACGGAAGGGAGCAATGATGCCCTA TTTTCCGCTTGAACATGGCTGGTCGTGAATGTGCTGGCTACCACAGAGTT CTCACTGCCTTTGATGTGGTGTCTCTGAGAGAGCATGATAATGCTTTTCA TCCTTCTCATGGCTACCTCTTTTGGCATTAAGTCATTCAGTTACTCTTTA GTGACTGTACCAGGAAGAGGATAGAAATAGCAAGAGGAGAAATCAAAAGA GCCAGTGTCGATACTCTATGAGAAAGAGTTGGGGCAAAAATTTGGCAAAA AATTTGATTATTAAATTATCCAATTGTAGATGTAATATTTCCCAAGGTGT TCCTATTTACTCGCTAATATGTATCATTTTGAATTGACTGTAGACTCCTT ACATATAAATATATCATATTTTAAAGTAATCTTTTGAAGAGAAATGTTAC ATTGTATTATTTAGAAATAACTGGAGTTTCCTTCAAGAAAATATTTGTTT TCTAAATTAATGCTTAATAATAATAATATGATTCATAATCTACAAAATAT ACTACTATATGGAAATTGAAACAGTAATTTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG00735.hp2 others(18): Show HG00323.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01123.hp2 HG01433.hp2 HG01496.hp2 HG02165.hp1 HG02280.hp2 HG02735.hp1 HG02738.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03669.hp2 HG03942.hp2 NA18522.hp1 NA18961.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(12): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0042 a0001c0001t0047 a0001c0001t0057 a0001c0001t0061 a0001c0001t0064 a0001c0001t0072 a0001c0002t0021 a0001c0002t0074	a0001c0001t0002g0053 a0001c0001t0008g0142 a0001c0001t0008g0150 others(18): Show a0001c0001t0002g0053 a0001c0001t0008g0142 a0001c0001t0008g0150 a0001c0001t0008g0154 a0001c0001t0008g0174 a0001c0001t0010g0026 a0001c0001t0010g0055 a0001c0001t0010g0057 a0001c0001t0010g0074 a0001c0001t0016g0061 a0001c0001t0027g0002 a0001c0001t0031g0006 a0001c0001t0032g0008 a0001c0001t0042g0058 a0001c0001t0047g0047 a0001c0001t0057g0097 a0001c0001t0061g0175 a0001c0001t0064g0185 a0001c0001t0072g0190 a0001c0002t0021g0085 a0001c0002t0074g0192	21	190	0.1105	-1034	c.124 others(18): Show c.1241+452_1241+1485del	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	11/13			chr4	TogoVar
SLMAP_chr3_57751309_57935003	57905313	ACTCTGTT others(1027): Show ACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAG CCTTGGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGTGTGCATCACCAAACCCAGTTAATTTTCGTATTTTTA GTAGAGACGGGTTTTACCATGTTGCCTAGGTGGGTTTTGAACTCCTGACC TCAAGAGATCTGTCTGCCTTGGCTTCCCAAAGTACTGGTATTACAGGTGT GAGCCACTGTGCCCGGCCCAGGGGATTAATTCTATCTTACCTGTTTTCAT ATCTGTAATTTTCTTCTTCAACAGTGAGAAAAGTGGCTTCATTTATCTGC AACGTATTTATTTGAGCCTTTTTAGAATACACAGAAAGTTGTTTCAGAAT TAATAGCCAGTGCTTTTGTAGAAAAGAAACCTGTGTATAAAATTTTTTTT GATTATCAAATTATTAACATACAGCAATAGTCCTCAACACAGGACATTTT ACCTCCCAGGGGACATTTGGCAATATCTGACCAGGAAAACTACCAAACAT CCTACAATTCATAGGGTAGCCCCACAGCAAAGAATTTATTCAGCCCAAAA TGTCAGTAGTGCTGAGGTTGAAAAACTCGATCACAGAGCAAGGAAAATAC CTACTCAAGGAATTAATGTCGATGTTTTTGTCAAACCACTTGAATGTAAG ATGCAAGCATCATGATGCTTCTCTTCTAAATACTCCTTAAAAAAAAAAAA AAAAAAAAAGAGCATTATCCTATATAATGACAAATCCAGAAACAGGGGCC AGGACCTTTGCAGACTCCAGTGGATAGTGTTGAAAGAGCTGTGAGAGAAG TTTTGTAGCTAATGCAACAGTGTTTCTGCCACTGGAAAAATCTCTCTCTC TACATGCCCCTTCCCTGGCCCAAAGACCTTTTGAAGGAAGAATTGATAAG TTGACTAGAGTAGCTGAACCCAGAATCAAATTTTTTTCTTTTTTTTTCTT TTTTTTTTTTTTTTTTTTTTAGAGACACAGTCACT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0237 a0001c0002t0001g0237	1	308	0.0032	-1034	c.150 others(19): Show c.1502-2564_1502-1531del	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
ADARB2_chr10_1172313_1742525	1235614	CCCTCTGC others(1026): Show CCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTG TGTCCTGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGGGCCCC CCAAAGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCACCATG ATCTTTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCTATCTG TCTACACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGCCATAC CTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGT GATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGC ACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCATCCAG CCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATG ATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGC CCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTC CTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGG TGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGT GTTTACTCCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAGAGTTC CCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGC TGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGC TGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0089 a0001c0001t0055g0089	1	105	0.0095	-1033	c.136 others(19): Show c.1362-2802_1362-1770del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
GAL3ST2_chr2_241771822_241809287	241806539	CCCCTCAG others(1026): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCAC GCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0037 a0003c0003t0001g0037	1	289	0.0035	-1033	c.23 others(11): Show c.2374_*3406del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2253		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806539	CCCCTCAG others(1026): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCAC GCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0024 a0001c0005t0001g0024	1	292	0.0034	-1033	c.-27 others(11): Show c.-2738_-1706del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2653		chr2	TogoVar
NLRP5_chr19_55994726_56066810	56019729	CAGTAATT others(1026): Show CAGTAATTATTTTTGTAATTCCTTCTATCAACTAATATGTACATGAATAC CTGCCATTGAAGAATTGTGCTGGAATTACAGTGGTAAGAAAAACATGTCT TGCCTTCATGGCATTTTTTTTTTTTTGAGAAGGAGTCTCGCTGTGTCGCC CAAGCTGTAGTGCAGTGGCGGGATCTCAGCTCAGTGCAACCTCTGCCTCC CAGGTTCAAGCGATTCTTCTGTCTCAGCCTCCCGAGTAGCTGGGATTACA GGCACCTGCCACTGTGCCCGACTAATTTTTGTATTTTTAGTAGAGATGGG GTTTCACCATATTGGCCAAGCTGGTCTCGAACTCGTGACCTCGGCTGCCC ACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCG ACCTACCCCTCATTTTAATAACTTGTGCAAGTCTCTTCAAGGAGAAATGA GCCTAGGACCCTCACCCTCAAGCTTTGAATTAGTGCTCATTGTACCAGTG CACTCTGTCTTCTAGTTGAGCCGGTGGTTGTCATGTTTTCAACTGGCCAG AAAATAAATATGGCATGACTAAGCTTATCTTGGGGGTGTCTGACATCTCT GACTCGAATAATAAACACAAGTATGTTGGAATTCATTCTTTTGCAGAAAT TTCACAAGCTATGGAACAAGAAGGTGCCACAGCAGCAGAGACAGAAGAAC AAGGTGAGGAAAATAGATGTATTCCTTGGTTGCCCTCCTGGAAGAAAGTT GGGTGAAAGAAGTGTAAGTAGTTTAGATTTCAAGGGTATGTAGTTTAGAT TGCCTTTCTTCAATCTCATTTGTCTCTGGTGTCAACCCCTTCCCTTCAAG CTCTTGATCAGTACCATGGATAGAGCTACGCAAGTTCACTGTGATTATCT ACAGTCAGATACTATGAAGACAAAATTCTAAAGAACCCATAATTCTAGGG GACTCGAATCAATCACAACTTTGTTTGATGGATGTTAAACATATGGCCAA GAGTAGTCAAATGCTGTCTTCAAACTTAAGTGGT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02809.hp2 HG03130.hp1 HG03486.hp2 others(1): Show HG02809.hp2 HG03130.hp1 HG03486.hp2 HG03579.hp1	a0014 a0014	a0014c0096 a0014c0128 a0014c0129 others(1): Show a0014c0096 a0014c0128 a0014c0129 a0014c0130	a0014c0096t0001 a0014c0128t0001 a0014c0129t0003 others(1): Show a0014c0096t0001 a0014c0128t0001 a0014c0129t0003 a0014c0130t0001	a0014c0096t0001g0106 a0014c0128t0001g0102 a0014c0129t0003g0308 others(1): Show a0014c0096t0001g0106 a0014c0128t0001g0102 a0014c0129t0003g0308 a0014c0130t0001g0307	4	391	0.0102	-1033	c.622 others(15): Show c.622+438_679+437del	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
SKI_chr1_2223319_2315213	2281451	CGGAGATC others(1026): Show CGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGAT CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATA GAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACA GGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGA TCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAG AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG ACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGAC AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAG ATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA GGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAG ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTT CAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0096 a0001c0001t0066g0096	1	324	0.0031	-1033	c.970 others(19): Show c.970-21502_970-20470del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288538	TCTGCTCC others(1025): Show TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTC TGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTT CCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCT CCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTG TCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	271	0.0037	-1032	c.39 others(11): Show c.3994_*5025del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3852		chr1	TogoVar

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