Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ZNF229_chr19_44421254_44453472	44428489	ACCAGTGT others(413): Show ACCAGTGTGGACCCTCTGATGACCTTGAAGATGTGAGCTCTGACTATAGC CCTTCCCACACACGTGGCATCTGTATGGCTTCTCGCCAGTGTGCACTCTC TTATGACTAAGGAGACCTGAGCCATATCTGAAACCCTTCCCACATTCACA ACAAGTGTAGGGTTTCTCTCCTGTGTGCAACCTCTGGTGGGTGCGAAGAT TAGAGCCATAACTGAATCCCTTGCCACACTGATCACACGTATAGGGCTTT TTTCCCGTGTGGACTCGCTGATGTTTGTGAAGGCTTGATGTGCACCTAAA GCCCTTTCCGCACTCTTGGCATCTGTAAGGTTTCTCGCCTGTGTGGACTC TCTGGTGAATGAGAAGCCCTGAGCTGTAACTGAAGCCTTTGCCACACTCA GCACATTTATAGGGTTTCTCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18939.hp2 NA19011.hp2 NA18939.hp2 NA19011.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0033 a0010c0010t0001g0033	2	432	0.0046	-420	c.187 others(9): Show c.1872_2291del	p.Glu others(13): Show p.Glu625_Gly764del	ZNF229	ENSG00000278318.5	transcript	ENST00000614049.5	protein_coding	6/6	2720/4956	1872/2478	624/825			chr19	TogoVar
ZNF517_chr8_144793913_144815084	144811957	GTAAAGCT others(413): Show GTAAAGCTCAGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCTGAGACA GAGTGGGAGAGACACCGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGAA TGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACACCGACAGTAAAGCTCA GCCAGGTGCAGACTGCAGCCTGGAAGCAAAGGCTGAGACAGGGTGGGAGA GACACTGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGAATGGAAGCAAA GGCTGAGACAGGGTGGGAGAGACAGGGACAATAAAGCTCAGCCAGGTGCA GACTGCAGAATGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACACGGACA GTAAAGCTCAGCCAGGTGCAGACTGCAGCCTGGAAGCAAAGGCTGAGACA GGGTGGGAGAGACAGGGACAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02886.hp2 HG02647.hp1 HG02886.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0027 a0002c0004t0029 a0002c0004t0027 a0002c0004t0029	a0002c0004t0027g0012 a0002c0004t0029g0012 a0002c0004t0027g0012 a0002c0004t0029g0012	2	406	0.0049	-420	c.35 others(11): Show c.3563_*3982del		ZNF517	ENSG00000197363.11	transcript	ENST00000359971.4	protein_coding					1874		chr8	TogoVar
ZNF589_chr3_48236104_48275990	48269005	CTCAGGGG others(413): Show CTCAGGGGAGAAGCCTTATGTGTGTGGGGAATGTGGGCGGGGATTTAGCC GGAGGATAGTCCTCAATGGACACTGGAGGACACACACGGGAGAGAAGCCT TACACGTGCTTTGAGTGTGGGCGAAACTTTAGCCTCAAGTCCGCTCTTAG TGTACATCAGAGGATACACTCTGGGGAGAAGCCTTATGCATGCACGGAGT GTGGGCAAGGCTTTATCACGAAATCACAGCTCATCAGACACCAGAGGACA CACACAGGAGAAAAGCCTTATGTCTGCGGAGAGTGTGGGCGAGGCTTTAT AGCTCAGTCAACCCTCCACTACCACCGGAGTACACACTCCAAGGAAAAAC CTTATGTGTGCAGCCAGTGTGGGCGAGGCTTTTGTGATAAATCAACTCTC CTCGCACACGAGCAGACACAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0017 a0001c0001t0013g0017	1	302	0.0033	-420	c.26 others(9): Show c.265_*684del		ZNF589	ENSG00000164048.14	transcript	ENST00000354698.8	protein_coding	4/4				265	INFO_REALIGN_3_PRIME	chr3	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235624	CGTGGGCC others(413): Show CGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGTCTC CACTCCAGCCTCTGATGGACCGTGGGCCAAGTCTCCACTCCAGCCTCTGA TGGATGGTGGGCCAAGCCTCCACTCCAGTCTCTGATGGACGGTGGGCCAA GTCTCCACTCCAGCCTCTGATGGACAGTGGGCCAAGTCTCCACTCCAGCC TCTGATGGACGGTGGGCCAAGCCTCCACTCCAGCCTCTGATGGACGGTGG GCCAAGCCTCCATTCCAGCCTCTGATGGACGGTGGGCCAAGTCTCCACTC CAGCCTCTGATGGATGGTGGGCCAAGCCTCCACTCCAGCCTCTGATGGAC GGTGGGCCAAGCCTCCACTCCAGCCTCTGATTGACCGTGGGCCAAGCCTC CACTCCAACCTCTGATGGACG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(118): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02074.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG02683.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0002c0002 a0002c0011 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0003t0001 a0001c0006t0001 a0001c0010t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0011t0001 a0004c0005t0001 a0004c0005t0003	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0032 others(117): Show a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0004g0005 a0001c0001t0007g0113 a0001c0001t0008g0287 a0001c0003t0001g0031 a0001c0003t0001g0137 a0001c0003t0001g0191 a0001c0003t0001g0332 a0001c0003t0001g0333 a0001c0003t0001g0337 a0001c0006t0001g0211 a0001c0010t0002g0029 a0002c0002t0001g0051 a0002c0002t0001g0128 a0002c0002t0001g0220 a0002c0002t0001g0256 a0002c0002t0001g0307 a0002c0002t0001g0309 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0025 a0002c0002t0006g0014 a0002c0011t0001g0315 a0004c0005t0001g0179 a0004c0005t0003g0004	121	348	0.3477	-420	c.-12 others(21): Show c.-127-10871_-127-10452del		ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5						chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56306373	CTCTCCCA others(413): Show CTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCT TCCCTCGGTATCTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTTGCCA GAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGATAGCTACA AAGAGGCTCCTCCCTGGCTTCTCCCACGTCGCCAGAGAAAGTACTAAGGA CAGATGGGAGATTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTG GCCTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCT CTTCCCTCGGTATCTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTTGC CAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGATAGCTA CAAAGAGGCTCCTCCCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp2 HG01255.hp1 others(8): Show HG00544.hp1 HG00741.hp2 HG01255.hp1 HG01261.hp2 HG01952.hp2 HG03654.hp2 HG03834.hp1 HG04199.hp1 NA18952.hp1 NA18961.hp2 NA18973.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 a0002c0002t0002 a0002c0002t0006 a0007c0013t0002	a0001c0001t0001g0150 a0001c0001t0002g0008 a0001c0001t0002g0010 others(8): Show a0001c0001t0001g0150 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0026 a0001c0006t0002g0011 a0002c0002t0002g0009 a0002c0002t0002g0012 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0006g0014 a0007c0013t0002g0013	11	353	0.0312	-420	c.-12 others(19): Show c.-128+6490_-128+6909del		ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5						chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56306636	CGCCAGAG others(413): Show CGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTAT CTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACT AAGGACAGATGGGAGATTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCT CCCTGGCTTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGA TTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCAC GTCGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTTGAT AGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTA CTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTC CCCCCCGGCCTCTCCCCTGTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG02717.hp1 others(1): Show HG01891.hp1 HG02622.hp2 HG02717.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 others(1): Show a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0003t0001g0191	4	185	0.0216	-420	c.-12 others(19): Show c.-128+6227_-128+6646del		ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5						chr19	TogoVar
ACAP3_chr1_1287391_1312930	1289617	CCGTGTCT others(412): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	292	0.0034	-419	c.35 others(11): Show c.3528_*3946del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2773		chr1	TogoVar
ARHGAP8_chr22_44747575_44867784	44800786	GGGGGCCG others(412): Show GGGGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCC GCAGCTGTCCGTGTGTGGGGGGCGCCTCTCCCCGCAGCTGTCCGTGTGTG GGGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCCG CAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGG GGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCCGC AGCTGTGTGGGGGCACCTCTCCCCGCAGCTGTCCATGTGTGAGGGGCACC TCTCCCCGCAGCTGTCCATGTGTGGGGGCACCTCTCCCCGCAGCTGTCCA TGTGTGGGGGCACCTCTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCCCT CCCCGCAGCTGTCCATGTGT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0005 a0009c0026t0005	a0009c0026t0005g0019 a0009c0026t0005g0019	1	388	0.0026	-419	c.80- others(14): Show c.80-1286_80-868del		ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
B4GALNT4_chr11_364499_387117	384971	GAACCCCC others(412): Show GAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAG CCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACC CACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCC TGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCAC AGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGA CCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGG CCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCC ACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAA GACCCACTCCCAGGCCTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0021 a0021	a0021c0019 a0021c0019	a0021c0019t0001 a0021c0019t0001	a0021c0019t0001g0033 a0021c0019t0001g0033	1	182	0.0055	-419	c.31 others(11): Show c.3180_*3598del		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding					2855		chr11	TogoVar
DDX51_chr12_132131594_132149319	132135814	CCCGAGTG others(412): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACG GTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCA CCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC ACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCC TCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGT GTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCC CGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCT CCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCC GGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	328	0.0030	-419	c.30 others(11): Show c.3039_*3457del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					779		chr12	TogoVar
DLGAP2_chr8_732628_1713476	1691978	GGTACCGA others(412): Show GGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGA GGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGA GGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATA CGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTG GTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAAC GCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACC GAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGG GAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGA TACGGCCCTGGTTTAAACGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	39	0.0256	-419	c.279 others(17): Show c.2796+354_2796+772del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJC5_chr20_63890126_63941011	63919621	CACATGTG others(412): Show CACATGTGCCCAGGGCCCGGGACAGCGCCACGGAAGAGGACGCACCCGGC TGTGTGGACATGTGCCCAGGGCCCGGGACAGCGCCACGGAAGAGGACGCA CAGGACAGCGCCACGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCCC AGGGCCCGGGACAGCGCCACGGAAGAGGACGCACCCGGCTGTGTGCACAT GTGCCCAGGGCCCGGGACAGCGCCATGGAAGAGGACGCACCCGGCTGTGT GCACATGTGCCCAGGGCCCGGGACAGCGCCACGGAAGAGGACGCACCCGG CTGTGTGCACATGTGCCCAGGGCCCGGGACAGCGCCACGGAAGAGGATGC ACCCGGCTGTGTGGACATGTGCCCAGGGCCCGGGACAGCGCCACGGAAGA GGACGCACCCGGCTGTGTGG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03516.hp1 HG02976.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	370	0.0054	-419	c.-11 others(17): Show c.-11-8575_-11-8157del		DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
IL3RA_chrX_1331785_1387689	1365774	GGTGAGCG others(412): Show GGTGAGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGAGCGGGGTGC GCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCGGGGTGCGCGGG GTGAGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGAG CGGGGTGAGCGGGGTGCGGGGTGCGCGGTGCGCGGGGTGAGCGGGGTGCG CGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCGGG TGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGC GGGGTGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGCGCGGGGT GCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTGCGCGGGGTGAGCG GGGTGCGCGGGGTGCGCGGC	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0080 a0001c0001t0006g0080	1	112	0.0089	-419	c.874 others(15): Show c.874+529_874+947del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
L3MBTL4_chr18_5949717_6419911	5996985	TTAGAAGC others(412): Show TTAGAAGCACAATTGATCCTCAGTATCCATGTCATGGATTCAACCAATTG CAGGTTGAAAATACTTGGGAAAAAACTAAACAATAAAAAACATTACAATA GTAAAAACACTACAAGTAAAAAAGCAATTAAGTATTAATATAATAACTGT GTACTTTGCATTTACGCTGTGTTAGGTATAAGTAATCTAGAGATGATTTT AAGTATGTGAAAGGAAAATAAATCTCAGGTCCCCAAAATCACTAAATCAA GGGAAAAGTAAAGCTGGGAACACTCAAGCTGTGAACTATGTCAGGCAAAC TCGCCTCCCATCTTATTCCTAAACAAAATAGTGACAGAGATTCAAAAGCT ACACACCTTCCTCACAATTTGCCCATCAGGAAATTCCTTGTGGACAAAGG ACAGACAGAACTCAAAGTCA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02622.hp1 HG03486.hp2 others(5): Show HG01952.hp1 HG02622.hp1 HG03486.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0004t0006 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0004t0006 a0002c0002t0001	a0001c0001t0002g0052 a0001c0001t0002g0072 a0001c0001t0004g0076 others(5): Show a0001c0001t0002g0052 a0001c0001t0002g0072 a0001c0001t0004g0076 a0001c0004t0006g0087 a0002c0002t0001g0008 a0002c0002t0001g0013 a0002c0002t0001g0054 a0002c0002t0001g0084	8	92	0.0870	-419	c.144 others(21): Show c.1445-27842_1445-27424del		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18						chr18	TogoVar
SAMD11_chr1_918923_949574	934092	AGGGGAGG others(412): Show AGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCG TTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCG GCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGG GAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTC CGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0008 a0006c0007t0008	a0006c0007t0008g0272 a0006c0007t0008g0272	1	326	0.0031	-419	c.843 others(17): Show c.843-1675_843-1257del		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289617	CCGTGTCT others(412): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0026 a0026	a0026c0033 a0026c0033	a0026c0033t0009 a0026c0033t0009	a0026c0033t0009g0276 a0026c0033t0009g0276	1	283	0.0035	-419	c.166 others(17): Show c.1663-652_1663-234del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SEH1L_chr18_12943011_12992531	12979967	ACCTCCCG others(412): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGCGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGCGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGG CTGTCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCACCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCCCCCACCTCCCTCCCG GTCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCAGGGCGG GGGGCTGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01981.hp2 HG02004.hp2 others(9): Show HG01192.hp2 HG01981.hp2 HG02004.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG03704.hp1 HG04199.hp2 NA18943.hp1 NA18956.hp1 NA19055.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0001c0001t0001 a0001c0003t0001 a0001c0007t0001	a0001c0001t0001g0022 a0001c0001t0001g0049 a0001c0001t0001g0141 others(9): Show a0001c0001t0001g0022 a0001c0001t0001g0049 a0001c0001t0001g0141 a0001c0001t0001g0231 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0003t0001g0357 a0001c0007t0001g0242 a0001c0007t0001g0245	12	386	0.0311	-419	c.761 others(17): Show c.761+1104_761+1522del		SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr18	TogoVar
TUBGCP2_chr10_133273635_133313872	133291841	CCTCCGTG others(412): Show CCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAG CATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCC GTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAG GGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTGT CCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCC CTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGG GAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGT GTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTAC GGGAGAGGGCAGCATGCACA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0048 a0001c0004t0002g0048	1	281	0.0036	-419	c.121 others(17): Show c.1214+239_1214+657del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
ZNF516_chr18_76352682_76500242	76394311	AGGTGGTC others(412): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03490.hp1 HG03492.hp1 HG02300.hp2 HG03490.hp1 HG03492.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0007 a0003c0007t0091 a0001c0001t0007 a0003c0007t0091	a0001c0001t0007g0145 a0001c0001t0007g0146 a0003c0007t0091g0111 a0001c0001t0007g0145 a0001c0001t0007g0146 a0003c0007t0091g0111	3	308	0.0097	-419	c.181 others(21): Show c.1811-14427_1811-14009del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ANKRD11_chr16_89262630_89495561	89400336	CGGTCATC others(411): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGATGGTCATCTG CTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCT TCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGG GGGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATC TGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGG CTTCCCTGCGCTGGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02809.hp1 others(1): Show HG02109.hp2 HG02572.hp1 HG02809.hp1 HG02965.hp2	a0001 a0008 a0024 a0001 a0008 a0024	a0001c0018 a0008c0021 a0008c0059 others(1): Show a0001c0018 a0008c0021 a0008c0059 a0024c0049	a0001c0018t0001 a0008c0021t0002 a0008c0059t0001 others(1): Show a0001c0018t0001 a0008c0021t0002 a0008c0059t0001 a0024c0049t0001	a0001c0018t0001g0266 a0008c0021t0002g0267 a0008c0059t0001g0264 others(1): Show a0001c0018t0001g0266 a0008c0021t0002g0267 a0008c0059t0001g0264 a0024c0049t0001g0265	4	308	0.0130	-418	c.-60 others(19): Show c.-60+17530_-60+17947del		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12						chr16	TogoVar
B4GALNT4_chr11_364499_387117	384901	ACACAGCT others(411): Show ACACAGCTGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGC AAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCC CAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAAC CCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGG GCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACT CCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGA ACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCC GGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCA CTCCCAGGCCTGGAACCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG01106.hp2 others(36): Show HG00099.hp2 HG00544.hp1 HG01106.hp2 HG01258.hp2 HG01358.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02148.hp2 HG02300.hp1 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03688.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp1 NA18947.hp2 NA18952.hp1 NA18963.hp2 NA18966.hp1 NA18970.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19012.hp1 NA19057.hp2 NA19064.hp1 NA19081.hp1 NA19085.hp1 NA19087.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0007 a0012 a0020 a0022 a0023 a0024	a0001c0001 a0001c0003 a0002c0002 others(8): Show a0001c0001 a0001c0003 a0002c0002 a0002c0037 a0003c0006 a0007c0011 a0012c0040 a0020c0032 a0022c0015 a0023c0034 a0024c0021	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(9): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0002c0002t0001 a0002c0037t0001 a0003c0006t0001 a0007c0011t0001 a0012c0040t0001 a0020c0032t0001 a0022c0015t0001 a0023c0034t0001 a0024c0021t0001	a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0003t0001g0091 others(36): Show a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0003t0001g0091 a0001c0003t0001g0097 a0001c0003t0001g0106 a0001c0003t0001g0136 a0001c0003t0003g0018 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0074 a0002c0002t0001g0137 a0002c0002t0001g0141 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0037t0001g0156 a0003c0006t0001g0077 a0003c0006t0001g0133 a0003c0006t0001g0154 a0007c0011t0001g0150 a0007c0011t0001g0158 a0012c0040t0001g0007 a0020c0032t0001g0147 a0022c0015t0001g0040 a0023c0034t0001g0090 a0024c0021t0001g0096	39	147	0.2653	-418	c.31 others(11): Show c.3110_*3527del		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding					2785		chr11	TogoVar
CACNA1H_chr16_1148106_1226768	1190926	TTTCGCTG others(411): Show TTTCGCTGACCCAGCATGCTGGCCTGGTTGTGTGGCCTCAGGCACACTCG GGGTTTCGGTGACCCAGCAGGCTGCCCTGGCTGTGTGGCCTCAGGCACAC TCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACA CTCGGGGTCTCTCTGACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGC ACACTCGGGGTCTCTCTGACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCA GGCACACTCGGGGTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCC TCAGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGC CTCAGGCACACTCGGGGTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGT GGCCTCCGGCACACTCGGG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03516.hp2 HG02109.hp2 HG03516.hp2	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0019 a0003c0022t0026 a0003c0022t0019 a0003c0022t0026	a0003c0022t0019g0024 a0003c0022t0026g0025 a0003c0022t0019g0024 a0003c0022t0026g0025	2	335	0.0060	-418	c.300 others(17): Show c.300-4045_300-3628del		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88954349	GCTCCTGA others(411): Show GCTCCTGACCTCACCCAAGGCTCCTGACCCCACCCAAGACTCCTGACCCT ACCCAAGACTCCTGACCCCACCCAAGGCTCCTGACCCCATCCAAGGCTCC TGACCCCAGCCAAGTGTCCTGACCCCAGCCAAGGCTCCTGACCCCGCCCA AGGCTCCTGACCTCAGCCAAGGCTCCTGACTCCACCCAAGGCTCCTGACC TCAGCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCGCCCAAGGCT CCTGACCTCAGCCAAGGCTCCTGACTCCACCCAAGGCTCCTGACCTCAGC CAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCGCCCAAGGCTCCTGA CCTCAGCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCACCCAAGG CTCCTGACCTCAGCCAAGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0008 a0001c0003t0011g0008	1	282	0.0035	-418	c.151 others(19): Show c.151+21890_151+22307del		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CDC34_chr19_526760_547087	540269	GCCCCCCG others(411): Show GCCCCCCGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTT AGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGG CCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCA GGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGT TTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGA GGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGC CAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGG GTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCG GAGGCCGGGGTGGCCAGGC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02630.hp1 others(4): Show HG02280.hp2 HG02486.hp2 HG02630.hp1 HG03098.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	7	306	0.0229	-418	c.498 others(16): Show c.498-1064_498-647del		CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
DIAPH1_chr5_141510021_141624000	141594623	ATCCCAGC others(411): Show ATCCCAGCTACTTGGGAGGCTGAGGTATGAGAATCGCTTGAACCTGGGAG GCAGAGGTTGCAGTGAGCCAAGATCGAGCCACTGCACTCCAGCCTGGGTG ACGGAGCAAGACCCAGTCTCAAAAAAAGGAAAAGGCGGCCAGGTGCGGTG GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATTCC CTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTTGTGAAATCTCTTC TCTAATAACAATACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAAT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAAACCGGGAAGC AGAGGTTGCTGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCGAC AAGAGCGAAACTCCATCTC	A A	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	334	0.0030	-418	c.118 others(17): Show c.118-6791_118-6374del		DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27						chr5	TogoVar
DLGAP2_chr8_732628_1713476	1240786	GTTTCTAG others(411): Show GTTTCTAGTTCTTTCACATGGCGCCATGTCTAGTTACCTCTCACATGGTG CCATGTGTAGTTCTCTCTCACACATAGTGTCATGTCTAGTTCTCTCTCAC ACAGAGTATCGTGTCTAGTTCTCTCACATGGCACTGTGTCTAGTTCTCTC ACATGGCGCCGTGTCTAGTTCTCTTACATGGCGCCGTGTCTAGTTCTCTC ACATGGTGCTGTGTCTAGTTCTCTCTCACACATAGCGTCATGTATAGTTC TGTCTCACACAGAGCATCGTGTCTGGTTCTCTCACATGGTGACGTGTCTA GTTCTCTCACATGGCGCCGTGTCTGGTTCTCTCGCATGGCGCCGTGTCTA GTTCTCTCACGTGGTGCCATGTCTAGTTCTCTCACGTGGCGCCGTGTCTC GTTCTCTCACATGGAGCCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG01071.hp2 others(17): Show HG00639.hp1 HG01071.hp1 HG01071.hp2 HG01496.hp1 HG01496.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp2 HG02922.hp2 HG03486.hp2 HG03492.hp2 HG03710.hp1 HG03710.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0009 others(5): Show a0001c0002 a0001c0003 a0001c0009 a0001c0012 a0002c0001 a0002c0004 a0002c0006 a0003c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 others(16): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 a0001c0003t0001 a0001c0003t0006 a0001c0003t0017 a0001c0009t0012 a0001c0012t0004 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0011 a0002c0001t0019 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0006t0021 a0003c0005t0004	a0001c0002t0001g0019 a0001c0002t0002g0022 a0001c0002t0009g0039 others(17): Show a0001c0002t0001g0019 a0001c0002t0002g0022 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0003t0001g0025 a0001c0003t0006g0033 a0001c0003t0017g0004 a0001c0009t0012g0006 a0001c0012t0004g0036 a0002c0001t0002g0013 a0002c0001t0003g0017 a0002c0001t0003g0021 a0002c0001t0005g0029 a0002c0001t0011g0002 a0002c0001t0019g0031 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0006t0021g0014 a0003c0005t0004g0037	20	40	0.5000	-418	c.74- others(17): Show c.74-18063_74-17646del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137566388	TGGGTGAC others(411): Show TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	317	0.0032	-418	c.641 others(17): Show c.641-1652_641-1235del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
GRIP1_chr12_66342431_66684076	66522884	AGAAGCCT others(411): Show AGAAGCCTCAGGAGCCGATGCGCTCAACTGGAAGAAAGAGTATCAGTGAT GGAAGATGAAATGAATGAAATGAAGCAAGAAGGGAAATTCAGAGAAAAAA GAATAAAAAGAAACAAACAAAGCCTCCAAGAAATATGGGACTATGTGAAA AGACCAAATCTACGTCTGACTGGTGTACCTGAAAGTGATGGGGAGAATGG AATCAAGTGGGAAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCA ATCTAGCAAGGCAGGCCAACATTCAGATTCAGGAAATACAGAGAACACCA CAAAGATACTCCTCGAGAAGAGCAACTCCAAGACACATAATTGTCAGATT CACCAAAGTTGAAATGAAGGAAAAAATGTTAAAGGCAGCCAGAGAGAAAG GTCGGGTTACCCACAAAGG	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0038	1	222	0.0045	-418	c.503 others(17): Show c.503-5326_503-4909del		GRIP1	ENSG00000155974.14	transcript	ENST00000359742.9	protein_coding	5/24						chr12	TogoVar
GZMM_chr19_539053_554922	540269	GCCCCCCG others(411): Show GCCCCCCGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTT AGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGG CCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCA GGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGT TTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGA GGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGC CAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGG GTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCG GAGGCCGGGGTGGCCAGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02486.hp2 others(5): Show HG02109.hp1 HG02280.hp2 HG02486.hp2 HG02630.hp1 HG03098.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0018 a0001c0001 a0007c0018	a0001c0001t0001 a0007c0018t0001 a0001c0001t0001 a0007c0018t0001	a0001c0001t0001g0041 a0001c0001t0001g0150 a0001c0001t0001g0151 others(4): Show a0001c0001t0001g0041 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0007c0018t0001g0153	8	376	0.0213	-418	c.-38 others(11): Show c.-3802_-3385del		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					3783		chr19	TogoVar
LMNB2_chr19_2423166_2461959	2432826	GTCACCCC others(411): Show GTCACCCCATCAGCTGGGTCACCCCGTTACCCCCATGCCCCGGTCTTTCC GGTCACCTTGTCCCCTGCCTCGCATTGGCCGGCGGCCCCGTCACCCTGAC CCTGGTCACCCCATCAGCTGGGTCACCCCGTTACCCCCATGCCCCGGTCT TTCCGGTCACCTTGTCCCCTGCCTCGCATTGGCCGGCGGCCCCGTCACCC TGACCCTGATCACCCCCATCAGCTGGGTCACCCCGTTACCCCCATGCCCC GGTCATTCCAGTCACCTTGTCCCCTGCCTCGCATTGGCCGGCGGCCCCGT CACCCTGATCCTGGTCACCCCCATCAGCTGGGTCACCCCGTTACCCCCAT GCCCCGGTCTTTCCGGTCACCTTGTCCCCTGCCTCGTATTGGCCGGCGGC CCCGTCACCCTGACCCTGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03540.hp1 HG02615.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0214 a0001c0001t0002g0215	2	354	0.0056	-418	c.148 others(17): Show c.1482+582_1483-304del		LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11						chr19	TogoVar
LOC128462377_chr16_89312046_89423292	89400336	CGGTCATC others(411): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGATGGTCATCTG CTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCT TCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGG GGGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATC TGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGG CTTCCCTGCGCTGGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02809.hp2 others(1): Show HG02109.hp1 HG02572.hp1 HG02809.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0048	4	366	0.0109	-418	c.9+1 others(15): Show c.9+17530_9+17947del		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1						chr16	TogoVar
MLPH_chr2_237482251_237560322	237544509	GACAGTGG others(411): Show GACAGTGGTGAGTGGGGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGT GTTGGGGGGGACATTGTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGT GTGTGGTGGTGGTCAGTGGTGATTGGGCACTGTAGTGAGTGGGGGGACAG TGGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGAC AGTGGTGAGTGGGCACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCAC GGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGG GACAGTGGTGAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGG GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGG GGGACAGTGGTGAGTGGGC	G G	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19081.hp1 NA19003.hp2 NA19081.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0033 a0007c0007t0002g0037 a0007c0007t0002g0033 a0007c0007t0002g0037	2	268	0.0075	-418	c.153 others(19): Show c.1539+1856_1540-1674del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MVB12B_chr9_126321829_126512040	126484528	TTCCACTG others(411): Show TTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGG TCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTG CTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACC TTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGG TCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTGTGC TTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCT TCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGAGGTC AGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCT TCATGAGGTCAGGGTACCG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp2 HG01123.hp1 others(48): Show HG00597.hp1 HG00642.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01255.hp2 HG01884.hp1 HG01928.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02135.hp1 HG02257.hp2 HG02486.hp2 HG02559.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03579.hp2 HG03669.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18946.hp2 NA18955.hp1 NA18977.hp1 NA18992.hp2 NA18999.hp1 NA19005.hp2 NA19066.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 a0001c0001t0023 a0001c0001t0034 a0001c0002t0001 a0001c0002t0007 a0001c0002t0020 a0001c0002t0035 a0001c0003t0040 a0001c0006t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(48): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0073 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0241 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0007g0133 a0001c0001t0008g0085 a0001c0001t0008g0086 a0001c0001t0008g0271 a0001c0001t0008g0272 a0001c0001t0020g0135 a0001c0001t0023g0281 a0001c0001t0034g0083 a0001c0002t0001g0207 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0007g0126 a0001c0002t0007g0127 a0001c0002t0007g0129 a0001c0002t0007g0139 a0001c0002t0020g0088 a0001c0002t0035g0172 a0001c0003t0040g0164 a0001c0006t0001g0090	51	316	0.1614	-418	c.873 others(16): Show c.873+973_873+1390del		MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
NEU4_chr2_241804193_241822413	241806994	CCCCCTCA others(411): Show CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAG GGACCCGGGAAGAGCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	318	0.0031	-418	c.-22 others(11): Show c.-2283_-1866del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2198		chr2	TogoVar
PKP3_chr11_389209_409908	400996	ACCCCGCT others(411): Show ACCCCGCTCACCCCGGACCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACCCCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGC TCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCA CACCTGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGG CCCCGTTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCA CACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	199	0.0050	-418	c.173 others(17): Show c.1737+302_1737+719del		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
RIMBP2_chr12_130391133_130721299	130539610	CGATGAGG others(411): Show CGATGAGGTGGCCAGGTGTAGGATATGGCAAATGCAGTCGATGAGGTGGC CAGGTGTAGGATATGGCAAATGCAGTCGATGAGGTGGCCAGGTGTAGGCT ATGGCAAATGCAGTCGATGAGGTGGCCAGGTGTAGGATATGGCAAATGCA GTCCATGAAGTGGCCAGGTGTAGGATATGGCAAATGCAGTCCATGAGGTG GCCAGGTGTAGGATATGGCAAATGCAGTCGATGAGGTGGCCAGGTGTAGG ATATGGCAAATGCAGTAGATGAGGTGGCGAGGTGTAGGCTATGGCAAATG CAGTAGATGAGGTGGCCAGGTGTAGGATATGGCAAATGCAGTAGATGAGG TGGCCAGGTGTAGGATATGGCAAATGCAGTCGATGAGGTGGCCAGGTGTA GGATATGGCAAATGCAGTA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01070.hp2 HG01192.hp1 others(19): Show HG00544.hp1 HG01070.hp2 HG01192.hp1 HG01346.hp1 HG01346.hp2 HG01981.hp2 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02698.hp1 HG02886.hp1 HG03130.hp2 HG03491.hp1 HG03492.hp2 HG03834.hp1 NA18979.hp1 NA18979.hp2 NA18986.hp2 NA19007.hp2 NA19030.hp1 NA19084.hp2 NA20752.hp1	a0001 a0014 a0018 a0001 a0014 a0018	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0019 a0001c0020 a0001c0044 a0014c0050 a0018c0037	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0011t0001 a0001c0019t0001 a0001c0020t0001 a0001c0044t0001 a0014c0050t0001 a0018c0037t0001	a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0119 others(19): Show a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0119 a0001c0001t0001g0155 a0001c0001t0002g0037 a0001c0001t0002g0064 a0001c0002t0001g0036 a0001c0002t0002g0044 a0001c0004t0002g0003 a0001c0006t0001g0009 a0001c0006t0001g0075 a0001c0006t0001g0076 a0001c0007t0001g0149 a0001c0007t0001g0160 a0001c0008t0001g0137 a0001c0008t0001g0153 a0001c0011t0001g0109 a0001c0019t0001g0023 a0001c0020t0001g0118 a0001c0044t0001g0067 a0014c0050t0001g0104 a0018c0037t0001g0002	22	178	0.1236	-418	c.-21 others(21): Show c.-216-22111_-216-21694del		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22						chr12	TogoVar
SIGIRR_chr11_400716_419999	400996	ACCCCGCT others(411): Show ACCCCGCTCACCCCGGACCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACCCCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGC TCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCA CACCTGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGG CCCCGTTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCA CACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	224	0.0045	-418	c.44 others(11): Show c.4482_*4899del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4719		chr11	TogoVar
ZBTB42_chr14_104796101_104809712	104807958	GAGCACCC others(411): Show GAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAG ACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGG ATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCG TACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCC CCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCA GGATAACAAGGCCGTACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0000 a0002c0002t0016g0000	1	87	0.0115	-418	c.54 others(11): Show c.5493_*5910del		ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding					3247		chr14	TogoVar
ZBTB42_chr14_104796101_104809712	104808046	ACTCCCCA others(411): Show ACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGG ATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCG TACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCC CCAGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCA GGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGC CGTACAGAGCACCCCCAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19012.hp1 NA19088.hp2 NA19004.hp2 NA19012.hp1 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0000 a0002c0002t0004g0000	3	98	0.0306	-418	c.55 others(11): Show c.5581_*5998del		ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding					3335		chr14	TogoVar
ADORA2B_chr17_15940130_15980746	15979585	CCTCCCGG others(410): Show CCTCCCGGACGAGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCTGGGCGGAGGACTGACCCCCCCCACCTCC CTCCCGAATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGGGCTGAACCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCG GGCAGAGGTGCCCCTCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02080.hp2 HG04184.hp1 others(2): Show HG02015.hp2 HG02080.hp2 HG04184.hp1 NA18985.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0126 a0002c0002t0003g0128 a0002c0002t0003g0190 others(2): Show a0002c0002t0003g0126 a0002c0002t0003g0128 a0002c0002t0003g0190 a0002c0002t0003g0203 a0002c0002t0003g0283	5	344	0.0145	-417	c.42 others(11): Show c.4244_*4660del		ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding					3840		chr17	TogoVar
CDC34_chr19_526760_547087	540049	CGTTTAGA others(410): Show CGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAGAATCC GGAGGCCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGGGT GGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCC CGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAAT CCGGAGGCCGGGGTGGCCAGGCCCCCCGGTTTAGAATCCGGAGGCCGGGG TGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCC CCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAA TCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGG GGTGGCCAGGCCCCCCGG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02738.hp2 HG03654.hp2 others(2): Show HG00642.hp1 HG02738.hp2 HG03654.hp2 HG04184.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0106 a0001c0001t0001g0110 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0155	5	78	0.0641	-417	c.498 others(16): Show c.498-1253_498-837del		CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CDH4_chr20_61247261_61945617	61945200	ATGGGAGC others(410): Show ATGGGAGCCCCTTCTCACTGACAATGAGGAGCATTCAGAGTGTCTACACC GTGGCCACGCCTTCTCACCGATGCTGAGGAGCACCGAGACTGTCTGCACT GTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCATCTGCACC GTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACTGTCTGCACC GTGGCCGCCCCTTCTCACTGACGATGAGGAGCACTGCGACTGTCTGCACC GTGGCCGCCCTTTCTGACTGATGATAAGGAACATTGCGACTGTCTGCACC GTGGCTGCCCCTTCTCACCAACGCTGAGGAGCACTGCAACCATCTGCACC GTGGCCGCCCCTTCTCACCGATGATGAGGAACATTGAGACTGTCTGCCCC GTGGCTGCCCCTTCTCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01433.hp1 HG03540.hp1 HG01358.hp2 HG01433.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0004 a0001c0011t0005 a0001c0003t0004 a0001c0011t0005	a0001c0003t0004g0054 a0001c0011t0005g0003 a0001c0011t0005g0101 a0001c0003t0004g0054 a0001c0011t0005g0003 a0001c0011t0005g0101	3	102	0.0294	-417	c.82 others(11): Show c.8258_*8674del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					4584		chr20	TogoVar
ERC1_chr12_986223_1500931	1090402	GAAAGTGC others(410): Show GAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATT ATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGG CAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTAT TGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCC CATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATA TGCCTGTGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTG AGATTACAGGCAATATGC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	155	0.0065	-417	c.108 others(19): Show c.1086+6823_1086+7239del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18						chr12	TogoVar
FOXN3_chr14_89151177_89422233	89360801	TCCAGCAC others(410): Show TCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCAC CTCCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCA CCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCACC ACCACCACCTCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTC CACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCT CCAGCACTACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACC ACCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCAC CACCTCCAGCACTACCTCCAGCACCACCTCCACCACCACCACCTCCAGCA CCACCACCACCACCTCCA	T T	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	198	0.0051	-417	c.544 others(18): Show c.544-10410_544-9994del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FRYL_chr4_48492357_48785279	48659376	AGAAGAAG others(410): Show AGAAGAAGGAGAAGGAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGAGGAAGAGGAAGAGGAAGAGGAAGAGGGAGAAGAGGAAGAGGGAGAA GAGGAAGAGGGAGAAGAAGAAGAGGGAGAAGAAGAAGAGGGAGAAGAGGG AGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAG GAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAA GAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGG AGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAG GAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAA GAGGGAGAAGGAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp2 others(70): Show HG00544.hp1 HG00597.hp1 HG00609.hp2 HG01070.hp2 HG01071.hp2 HG01358.hp1 HG01516.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02071.hp1 HG02155.hp1 HG02257.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03834.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18954.hp2 NA18964.hp2 NA18965.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18978.hp2 NA18980.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19065.hp1 NA19070.hp1 NA19076.hp1 NA19079.hp2 NA19088.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0008 a0012 a0015 a0016 a0018	a0001c0002 a0001c0003 a0001c0006 others(7): Show a0001c0002 a0001c0003 a0001c0006 a0003c0005 a0005c0008 a0008c0021 a0012c0020 a0015c0017 a0016c0016 a0018c0018	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(11): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0015 a0001c0003t0001 a0001c0006t0001 a0003c0005t0001 a0005c0008t0001 a0008c0021t0001 a0012c0020t0001 a0015c0017t0001 a0016c0016t0001 a0018c0018t0001	a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0013 others(70): Show a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0091 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0003g0076 a0001c0002t0003g0090 a0001c0002t0005g0001 a0001c0002t0006g0112 a0001c0002t0015g0282 a0001c0003t0001g0098 a0001c0006t0001g0005 a0001c0006t0001g0008 a0001c0006t0001g0009 a0003c0005t0001g0007 a0003c0005t0001g0062 a0003c0005t0001g0063 a0003c0005t0001g0066 a0003c0005t0001g0067 a0003c0005t0001g0075 a0003c0005t0001g0092 a0005c0008t0001g0057 a0008c0021t0001g0096 a0012c0020t0001g0031 a0015c0017t0001g0084 a0016c0016t0001g0044 a0018c0018t0001g0078	73	269	0.2714	-417	c.-81 others(19): Show c.-81+24880_-80-24887del		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63						chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241806995	CCCCTCAG others(410): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGG GACCCGGGAAGAGCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG03041.hp2 NA19004.hp2 HG00642.hp2 HG03041.hp2 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0152 a0002c0002t0001g0100 a0002c0002t0002g0014 a0001c0001t0002g0152 a0002c0002t0001g0100 a0002c0002t0002g0014	3	300	0.0100	-417	c.28 others(11): Show c.2830_*3246del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2709		chr2	TogoVar
GZMM_chr19_539053_554922	540049	CGTTTAGA others(410): Show CGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAGAATCC GGAGGCCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGGGT GGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCC CGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAAT CCGGAGGCCGGGGTGGCCAGGCCCCCCGGTTTAGAATCCGGAGGCCGGGG TGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCC CCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAA TCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGG GGTGGCCAGGCCCCCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02738.hp2 HG03654.hp1 others(3): Show HG00642.hp1 HG02738.hp2 HG03654.hp1 HG03831.hp1 HG04184.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0109 a0001c0001t0001g0111 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113	6	86	0.0698	-417	c.-40 others(11): Show c.-4022_-3606del		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					4003		chr19	TogoVar
NCAPG2_chr7_158626169_158709804	158667322	TCCCTCCG others(410): Show TCCCTCCGCTACTGTGTCCCTCCGCTCCTTAGCCACTACCGGATCCCTCC GCCCCCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTG GGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACC CACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCC TCCTTACCTACCCTGTGGCCCTCCACCCGCTTACCCACTACTGGGTCCCT CCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCT GTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACC CACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCC TCCTTACCTACCCTGTGG	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	376	0.0027	-417	c.148 others(19): Show c.1480-2989_1480-2573del		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NEU4_chr2_241804193_241822413	241806995	CCCCTCAG others(410): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGG GACCCGGGAAGAGCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG03041.hp2 NA19000.hp2 others(1): Show HG02004.hp1 HG03041.hp2 NA19000.hp2 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0002c0003t0002	a0001c0001t0001g0001 a0001c0004t0001g0015 a0001c0005t0001g0156 others(1): Show a0001c0001t0001g0001 a0001c0004t0001g0015 a0001c0005t0001g0156 a0002c0003t0002g0142	4	308	0.0130	-417	c.-22 others(11): Show c.-2282_-1866del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2197		chr2	TogoVar
PCBP3_chr21_45638725_45947450	45909709	CCGGCCAC others(410): Show CCGGCCACCCACTGCCCAGATACAGACCTGGCCCACCCACTGCCCAGATA CGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTG CCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACC CACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGC CCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGA CCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAA ATATGGACCTGGCCCACCCACTGCCCAGATATGGACCCCCCCCACCACTG CCCAGATACGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCCCCAC CCACTGCCCAGATACGGA	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	290	0.0034	-417	c.471 others(15): Show c.471+225_471+641del		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr21	TogoVar

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