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
ANXA2_chr15_60342151_60402986	60367534	CGGCCAGC others(120): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGACAGCCCCCCGCCC GGCCAGCCGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCGCTCTGCCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	334	0.0030	-127	c.149 others(17): Show c.149-3138_149-3012del	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89868550	CGTCCGGG others(120): Show CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCACCCGGCCAGCCGCCCC GTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0178 a0001c0001t0029g0178	1	312	0.0032	-127	c.345 others(17): Show c.345+2798_345+2924del	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
APAF1_chr12_98640290_98740433	98655365	GTGGCCGG others(120): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCAGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03579.hp2 HG02258.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0225 a0001c0004t0007g0226 a0001c0004t0007g0225 a0001c0004t0007g0226	2	366	0.0055	-127	c.527 others(17): Show c.527-3751_527-3625del	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARHGAP21_chr10_24578614_24728887	24657310	CCCCCTCG others(120): Show CCCCCTCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTTGGGGGGTCAG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp2 HG03540.hp1 others(3): Show HG02559.hp1 HG03130.hp2 HG03540.hp1 HG04199.hp2 NA18906.hp2 NA19240.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0005c0005t0001 a0001c0001t0001 a0002c0002t0001 a0005c0005t0001	a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 others(3): Show a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0002c0002t0001g0077 a0005c0005t0001g0167	6	352	0.0171	-127	c.268 others(17): Show c.268+9548_268+9674del	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ARHGEF10_chr8_1818926_1963641	1889430	GGTCTGTG others(120): Show GGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTG AGTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTATTG AGGAGACACTGAGTAGGGTAAGGAGTCT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp2 HG02647.hp2 HG02723.hp2	a0010 a0010	a0010c0097 a0010c0098 a0010c0097 a0010c0098	a0010c0097t0014 a0010c0098t0003 a0010c0097t0014 a0010c0098t0003	a0010c0097t0014g0205 a0010c0098t0003g0203 a0010c0097t0014g0205 a0010c0098t0003g0203	2	363	0.0055	-127	c.118 others(19): Show c.1182+3726_1182+3852del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASCC3_chr6_100503194_100886329	100624767	TCTAATTT others(120): Show TCTAATTTAAAATTTTACTGGTGGTTATTACTTAGGGAAAGGATAATAAC AGGTTTTAAATTTTTATATATTAGTGCTTCCTAAAATTAAAAAAAGATTA TTATATATTTTTTAAAACCCAAATTTTG	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0180 a0003c0004t0004g0180	1	314	0.0032	-127	c.478 others(17): Show c.4785+298_4785+424del	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ATAD2_chr8_123314850_123401447	123315578	GTGGGGGG others(120): Show GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGATGGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	278	0.0036	-127	c.54 others(11): Show c.5429_*5555del	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding		4271		chr8	TogoVar
ATG3_chr3_112527510_112566962	112556356	AGAGGAGC others(120): Show AGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCAC CTCTGCCCGGCCGCCCCTACTGGGAAGT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	376	0.0027	-127	c.114 others(17): Show c.114+1893_114+2019del	ATG3	ENSG00000144848.11	transcript	ENST00000283290.10	protein_coding	2/11			chr3	TogoVar
BCKDK_chr16_31103386_31117791	31104494	GGGAGGTG others(120): Show GGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGA GGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCTGGCCAGTCGCCCCGTCCAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	300	0.0033	-127	c.-41 others(11): Show c.-4162_-4036del	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		3891		chr16	TogoVar
BLOC1S2_chr10_100268293_100291680	100277888	GTCAGCCC others(120): Show GTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCTGTCCGGGAGGGAGGTGAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01516.hp1 HG01517.hp2 others(4): Show HG00423.hp2 HG01516.hp1 HG01517.hp2 HG02083.hp2 HG03579.hp1 NA18971.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0019 a0001c0001t0006g0038 a0001c0001t0006g0206 others(1): Show a0001c0001t0006g0019 a0001c0001t0006g0038 a0001c0001t0006g0206 a0001c0001t0006g0209	7	378	0.0185	-127	c.397 others(17): Show c.397+2109_397+2235del	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
C12orf54_chr12_48477498_48501524	48500296	AGCGGCCG others(120): Show AGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG GCGGGTGGCCGACCCCCCCACCTCCCTCCTGGACGGGGCAGCTGGCCCGG CGGAGGGGCTCCTCACTTCCCAGTAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	436	0.0023	-127	c.41 others(11): Show c.4157_*4283del	C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding		3773		chr12	TogoVar
C12orf56_chr12_64259762_64395758	64366790	TACAGTTT others(120): Show TACAGTTTATATATATTATATATAACATACAGTTTATATATATTATATAT AACATACAGTTTATATATATTATATAACATACAGTTTATATATATTATAT AACATACAGTTTATATATTATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02145.hp1 HG02602.hp1 others(18): Show HG01361.hp2 HG02145.hp1 HG02602.hp1 HG02717.hp2 HG02922.hp1 HG03098.hp1 HG03130.hp2 HG03942.hp2 HG04115.hp1 NA18939.hp2 NA18943.hp2 NA18946.hp1 NA18953.hp2 NA18970.hp1 NA18984.hp1 NA18999.hp2 NA19003.hp1 NA19068.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0011 a0002c0002 others(1): Show a0001c0001 a0001c0011 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0011t0001 a0002c0002t0001 others(3): Show a0001c0001t0002 a0001c0011t0001 a0002c0002t0001 a0002c0002t0003 a0003c0004t0001 a0003c0004t0003	a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 others(18): Show a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0061 a0001c0001t0002g0068 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0011t0001g0005 a0002c0002t0001g0117 a0002c0002t0003g0020 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0062 a0002c0002t0003g0077 a0002c0002t0003g0078 a0003c0004t0001g0080 a0003c0004t0003g0036	21	312	0.0673	-127	c.253 others(19): Show c.253-13861_253-13735del	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C1orf159_chr1_1076823_1121089	1080650	CCCCCACC others(120): Show CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCC CACCTCGGTCCCTGTCTCCTTCCCTCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0190 a0002c0003t0002g0190	1	326	0.0031	-127	c.21 others(11): Show c.2116_*2242del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1172		chr1	TogoVar
C2_chr6_31922717_31950672	31932021	TGGCTGGC others(120): Show TGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGC AGAGGCGCCCCTCACTTCCCGGATGGGGCGGCTGGCCGGGCGAGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG00738.hp2 others(34): Show HG00642.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG02109.hp1 HG02257.hp1 HG02615.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04228.hp2 NA18939.hp2 NA18941.hp1 NA18988.hp2 NA18991.hp1 NA19030.hp1 NA19054.hp2 NA19056.hp2 NA19081.hp1 NA20129.hp1 NA20905.hp2	a0001 a0004 a0008 others(2): Show a0001 a0004 a0008 a0010 a0011	a0001c0002 a0004c0006 a0008c0009 others(2): Show a0001c0002 a0004c0006 a0008c0009 a0010c0008 a0011c0015	a0001c0002t0001 a0004c0006t0001 a0008c0009t0001 others(2): Show a0001c0002t0001 a0004c0006t0001 a0008c0009t0001 a0010c0008t0001 a0011c0015t0001	a0001c0002t0001g0011 a0001c0002t0001g0026 a0001c0002t0001g0030 others(25): Show a0001c0002t0001g0011 a0001c0002t0001g0026 a0001c0002t0001g0030 a0001c0002t0001g0043 a0001c0002t0001g0057 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0167 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0004c0006t0001g0030 a0008c0009t0001g0193 a0010c0008t0001g0186 a0011c0015t0001g0189	37	395	0.0937	-127	c.443 others(17): Show c.443-1572_443-1446del	C2	ENSG00000166278.16	transcript	ENST00000299367.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
C7orf50_chr7_992006_1143247	1038673	CGCCTGGC others(120): Show CGCCTGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCC GCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp1 HG01192.hp2 others(53): Show HG00099.hp1 HG01099.hp1 HG01192.hp2 HG01243.hp1 HG01884.hp1 HG01934.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02572.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18971.hp1 NA18984.hp1 NA18986.hp2 NA18998.hp2 NA18999.hp1 NA19005.hp2 NA19007.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0028 a0002c0002t0003	a0001c0001t0001g0029 a0001c0001t0001g0082 a0001c0001t0001g0083 others(53): Show a0001c0001t0001g0029 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0002g0280 a0001c0001t0002g0318 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0293 a0001c0001t0003g0307 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0005g0237 a0001c0001t0005g0287 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0314 a0001c0001t0007g0150 a0001c0001t0008g0152 a0001c0001t0008g0153 a0001c0001t0010g0119 a0001c0001t0012g0291 a0001c0001t0012g0292 a0001c0001t0012g0310 a0001c0001t0012g0312 a0001c0001t0012g0313 a0001c0001t0012g0321 a0001c0001t0021g0086 a0001c0001t0022g0019 a0001c0001t0025g0165 a0001c0001t0028g0201 a0002c0002t0003g0281 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0302 a0002c0002t0003g0303 a0002c0002t0003g0304	56	326	0.1718	-127	c.130 others(19): Show c.130-28657_130-28531del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1H_chr16_1148106_1226768	1204931	GGAGGGGT others(120): Show GGAGGGGTGGGAGCCGCGGGTGGGGGCCCCGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCA CGGGTGGGGGCCCCAGATCAGTGCCGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00642.hp2 others(26): Show HG00099.hp1 HG00323.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01496.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG02004.hp2 HG02109.hp2 HG02559.hp1 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG03017.hp2 HG03239.hp2 HG03516.hp2 HG04204.hp2 NA18522.hp2 NA18970.hp1 NA19003.hp2 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0003 a0005 a0006 others(7): Show a0003 a0005 a0006 a0008 a0020 a0024 a0025 a0029 a0041 a0052	a0003c0022 a0005c0023 a0006c0003 others(9): Show a0003c0022 a0005c0023 a0006c0003 a0006c0050 a0008c0005 a0008c0052 a0020c0034 a0024c0021 a0025c0053 a0029c0054 a0041c0051 a0052c0046	a0003c0022t0020 a0003c0022t0028 a0005c0023t0003 others(13): Show a0003c0022t0020 a0003c0022t0028 a0005c0023t0003 a0006c0003t0001 a0006c0003t0002 a0006c0003t0005 a0006c0050t0001 a0008c0005t0003 a0008c0005t0008 a0008c0052t0007 a0020c0034t0003 a0024c0021t0004 a0025c0053t0001 a0029c0054t0003 a0041c0051t0001 a0052c0046t0004	a0003c0022t0020g0025 a0003c0022t0028g0026 a0005c0023t0003g0045 others(25): Show a0003c0022t0020g0025 a0003c0022t0028g0026 a0005c0023t0003g0045 a0006c0003t0001g0021 a0006c0003t0001g0154 a0006c0003t0001g0178 a0006c0003t0001g0179 a0006c0003t0001g0186 a0006c0003t0001g0192 a0006c0003t0002g0173 a0006c0003t0005g0255 a0006c0050t0001g0125 a0008c0005t0003g0149 a0008c0005t0003g0166 a0008c0005t0003g0181 a0008c0005t0008g0257 a0008c0005t0008g0258 a0008c0005t0008g0259 a0008c0005t0008g0272 a0008c0005t0008g0277 a0008c0052t0007g0053 a0020c0034t0003g0002 a0024c0021t0004g0147 a0024c0021t0004g0235 a0025c0053t0001g0004 a0029c0054t0003g0130 a0041c0051t0001g0312 a0052c0046t0004g0076	29	338	0.0858	-127	c.245 others(16): Show c.2452-161_2452-35del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNB4_chr2_151827771_152104044	151875812	CCCTCCCG others(120): Show CCCTCCCGGACGGGGCGTCTCGCCTGGCGGGGGGCTGACCCCCCCATCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCACCCCTCA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp2 HG01109.hp2 others(17): Show HG00558.hp2 HG00642.hp2 HG01109.hp2 HG02015.hp2 HG02056.hp2 HG02083.hp2 HG02135.hp1 HG02486.hp2 HG02647.hp1 HG02698.hp1 HG02896.hp2 HG02965.hp1 HG03831.hp1 NA18939.hp2 NA18969.hp1 NA19055.hp2 NA19060.hp1 NA19065.hp2 NA19079.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 others(9): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0039 a0001c0002t0002 a0001c0002t0028 a0001c0003t0019 a0001c0003t0026	a0001c0001t0002g0156 a0001c0001t0007g0120 a0001c0001t0010g0109 others(17): Show a0001c0001t0002g0156 a0001c0001t0007g0120 a0001c0001t0010g0109 a0001c0001t0010g0114 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0010g0136 a0001c0001t0010g0230 a0001c0001t0015g0016 a0001c0001t0015g0019 a0001c0001t0017g0196 a0001c0001t0021g0149 a0001c0001t0021g0150 a0001c0001t0022g0041 a0001c0001t0022g0179 a0001c0001t0039g0205 a0001c0002t0002g0188 a0001c0002t0028g0003 a0001c0003t0019g0087 a0001c0003t0026g0032	20	230	0.0870	-127	c.521 others(15): Show c.521+487_521+613del	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	5/13			chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588299	AGGGAGGG others(120): Show AGGGAGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGGAGGGGCTCCTCTGCCCGGCCGCGCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	198	0.0051	-127	c.377 others(21): Show c.377-115980_377-115854del	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CANT1_chr17_78986716_79014764	79004340	GGGAGTTA others(120): Show GGGAGTTAGGGAGAGGGGGGTTAGGGAGAGGGGGGTTAGGGAGAAGGGAG TTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGGGAGTTAGGGA GAGGAGTTAAGGAGAGGGGAGTTAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0241 a0001c0001t0004g0241	1	394	0.0025	-127	c.-14 others(19): Show c.-147+5197_-147+5323del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPN11_chr6_44153820_44189401	44181953	TCACACAC others(120): Show TCACACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACACATACACACTCACATACAGACACAACCACACCACACACACAC ATACAGACACAACCACACCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03540.hp1 HG03209.hp2 HG03540.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0278 a0003c0003t0002g0381 a0001c0001t0001g0278 a0003c0003t0002g0381	2	460	0.0044	-127	c.193 others(17): Show c.1938+640_1938+766del	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CBFA2T2_chr20_33485096_33655030	33536303	CCCCCCCC others(120): Show CCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CAGGGTGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0028 a0001c0010t0028	a0001c0010t0028g0132 a0001c0010t0028g0132	1	298	0.0034	-127	c.34+ others(17): Show c.34+46021_34+46147del	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CCDC126_chr7_23592382_23649708	23636825	TCCTCTGC others(120): Show TCCTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCTCTGCCCGGC CAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCTGCCCAGTCCGGGAGGTGAGGGGCG	T T	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	380	0.0026	-127	c.239 others(17): Show c.239-6081_239-5955del	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC38_chr12_95862048_95947614	95907431	GGGCGGCT others(120): Show GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02258.hp2 others(7): Show HG01891.hp2 HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02922.hp2 HG02970.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp2 NA18522.hp2	a0004 a0004	a0004c0009 a0004c0017 a0004c0009 a0004c0017	a0004c0009t0001 a0004c0009t0003 a0004c0017t0001 a0004c0009t0001 a0004c0009t0003 a0004c0017t0001	a0004c0009t0001g0135 a0004c0009t0001g0137 a0004c0009t0003g0007 others(7): Show a0004c0009t0001g0135 a0004c0009t0001g0137 a0004c0009t0003g0007 a0004c0009t0003g0008 a0004c0009t0003g0009 a0004c0009t0003g0010 a0004c0009t0003g0011 a0004c0009t0003g0012 a0004c0017t0001g0134 a0004c0017t0001g0136	10	350	0.0286	-127	c.305 others(16): Show c.305-1107_305-981del	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC63_chr12_110841987_110912535	110867372	CGGACAGG others(120): Show CGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCATCTCCCTCCC GGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03195.hp2 HG01081.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0172 a0001c0001t0001g0091 a0001c0001t0001g0172	2	288	0.0069	-127	c.370 others(17): Show c.370-6466_370-6340del	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC87_chr11_66585176_66598063	66587931	CGGGAGGG others(120): Show CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCAGCCCGGCCAGCCACCCCATCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	386	0.0026	-127	c.24 others(11): Show c.2408_*2534del	CCDC87	ENSG00000182791.5	transcript	ENST00000333861.5	protein_coding		2244		chr11	TogoVar
CCNB1IP1_chr14_20306370_20338279	20310410	GGCCGCCC others(120): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCG TCCAGGAGGTGAGGGGCGCCTCTGCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	418	0.0024	-127	c.10 others(11): Show c.1013_*1139del	CCNB1IP1	ENSG00000100814.19	transcript	ENST00000358932.9	protein_coding		959		chr14	TogoVar
CD36_chr7_80633642_80684274	80683001	ATATATGT others(120): Show ATATATGTGTATTTATACGTATATGTGTATTATGTGTATATATACGTATA TGTGTATATATGTGTATATATACGTATATGTGTATATGTGTATATATACT TATATATGTGTATATGTGTATATATGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0155 a0001c0001t0049g0155	1	392	0.0026	-127	c.66 others(11): Show c.6619_*6745del	CD36	ENSG00000135218.19	transcript	ENST00000447544.7	protein_coding		3728		chr7	TogoVar
CDK12_chr17_39456486_39539544	39499083	CTTTCTTT others(120): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	260	0.0039	-127	c.242 others(19): Show c.2420-2163_2420-2037del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CENPVL3_chrX_51612020_51623912	51621563	CTTCTTCT others(120): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG00735.hp2 others(21): Show HG00597.hp1 HG00642.hp1 HG00735.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG02055.hp1 HG03130.hp1 HG03209.hp1 HG03704.hp1 NA18946.hp2 NA18948.hp1 NA18956.hp2 NA18963.hp1 NA18974.hp1 NA18980.hp2 NA18994.hp1 NA19006.hp1 NA19011.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0003c0003t0006 a0004c0006t0009	a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0002t0002g0000 others(3): Show a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0010g0000 a0003c0003t0006g0000 a0004c0006t0009g0000	24	298	0.0805	-127	c.-28 others(11): Show c.-2817_-2691del	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2652		chrX	TogoVar
CFAP99_chr4_2413955_2468002	2430352	GAAATGCC others(120): Show GAAATGCCAGAAAATTACGCAATACGTAAACCAAACGGCAGACTCCGGAC AGCGGACTGCGGTGAAATGCCAGAAAATTATGCAATACGTAAACCAAACG GCAGACTCCGGACAGCGGACTGCGGTGA	G G	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	350	0.0029	-127	c.111 others(17): Show c.111+3769_111+3895del	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFD_chr19_854664_868641	861102	CCTCTCCT others(120): Show CCTCTCCTGCTGCATGGGGACCCCGCCCCACAACCCCCACACCCTCACCC CGGGTCTAGCCTCGACCTCTCTTGCTGCGCTCGGAGCCCCCCCACCCTCT GCACCCTCACCCCGGGTCCAGCCTCGAA	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	287	0.0035	-127	c.357 others(15): Show c.357+194_357+320del	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CFD_chr19_854664_868641	861267	ACACCCTC others(120): Show ACACCCTCACCCCGGGTCTAGCCTCGACCTCTCTTGCTGCGCTCGGAGCC CCCCCACCCCCTGCACCCTCACCCCGGGTCCAGCCTCGACCTCTCCTGCT GCATGGGGACCCCGCCCTACAACCCCCG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	287	0.0035	-127	c.357 others(15): Show c.357+294_358-274del	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHD6_chr20_41397083_41623377	41555130	CGACGGGG others(120): Show CGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTG GGGGGCTGACCCCCCCACCTCCCTCCTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00438.hp1 others(66): Show HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00738.hp1 HG01255.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01928.hp2 HG01975.hp1 HG02027.hp1 HG02040.hp2 HG02083.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02717.hp2 HG02809.hp2 HG02886.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03491.hp2 HG03492.hp1 HG04184.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp2 NA18961.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18978.hp2 NA18983.hp2 NA18990.hp1 NA18994.hp1 NA19000.hp2 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19057.hp1 NA19066.hp2 NA19070.hp2 NA19079.hp2 NA19083.hp1 NA19084.hp1 NA19086.hp1	a0001 a0003 a0019 a0001 a0003 a0019	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0003c0010 a0019c0015	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0005t0007 a0003c0010t0001 a0019c0015t0007	a0001c0001t0001g0275 a0001c0002t0001g0052 a0001c0002t0001g0053 others(66): Show a0001c0001t0001g0275 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0145 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0308 a0001c0005t0001g0256 a0001c0005t0001g0257 a0001c0005t0001g0258 a0001c0005t0007g0051 a0001c0005t0007g0306 a0003c0010t0001g0265 a0003c0010t0001g0266 a0019c0015t0007g0307	69	324	0.2130	-127	c.-23 others(17): Show c.-23-3897_-23-3771del	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	1/36			chr20	TogoVar
CNBD2_chr20_35963590_36035700	36001273	GTGGCCGG others(120): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCTGGGCGGGGCGGCTGGCAGGGTGGGGGGCTGACC CCCCCACCTCCCTCCCGGACAGGGCGGC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02922.hp2 others(6): Show HG02486.hp2 HG02559.hp1 HG02922.hp2 HG03130.hp2 HG03195.hp2 HG03516.hp2 NA18906.hp2 NA19240.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 others(6): Show a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0110 a0002c0002t0002g0122	9	268	0.0336	-127	c.970 others(17): Show c.970+6187_970+6313del	CNBD2	ENSG00000149646.12	transcript	ENST00000373973.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL4A2_chr13_110302284_110518209	110355585	GAGGGCAG others(120): Show GAGGGCAGTACCAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTC ACCTGTGTGTGTGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGGGGGTG GAGGGCTGTACAGCTCACCTGTGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	372	0.0027	-127	c.100 others(17): Show c.100-1886_100-1760del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
CORIN_chr4_47589001_47843067	47775967	GCTTCAAC others(120): Show GCTTCAACTTCAACCTCCCAGGCTCAAGTGCTTCTCCCATCTCAGCCTCC CAAGTAGCTGGGGGTTTTTTTGAGTCAAGGTTTCACTCTGTTGCCCAGGC TGGAGTGCAATGGCAAGATCTCGGCTCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0142 a0004c0007t0002g0142	1	264	0.0038	-127	c.409 others(19): Show c.409+10631_409+10757del	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	3/21			chr4	TogoVar
CPNE7_chr16_89570758_89602246	89587728	CACCCACA others(120): Show CACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAAAC ACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGGCCCCCGTGTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02970.hp2 NA18952.hp2 others(1): Show HG01109.hp1 HG02970.hp2 NA18952.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007	a0001c0001t0001g0090 a0001c0002t0002g0337 a0001c0002t0003g0049 others(1): Show a0001c0001t0001g0090 a0001c0002t0002g0337 a0001c0002t0003g0049 a0001c0002t0007g0235	4	348	0.0115	-127	c.927 others(15): Show c.927+648_927+774del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587782	CCCCCGTG others(120): Show CCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCAC CCACAGATACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGG	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03579.hp1 HG01978.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0087 a0001c0002t0002g0022 a0001c0001t0001g0087 a0001c0002t0002g0022	2	348	0.0058	-127	c.927 others(15): Show c.927+685_928-762del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CSMD1_chr8_2930361_4999914	3795684	TGTATAGA others(120): Show TGTATAGATATAGATATATATCTATCAAGTACAGCTATAGATATCTATCA TGTACAGCTATAGATACCTATCATGTACAGCTATAGATACCTATCATGTA CAGATATAGATATATACCTATCATGTAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02486.hp1 HG00438.hp1 HG02486.hp1	a0001 a0017 a0001 a0017	a0001c0094 a0017c0101 a0001c0094 a0017c0101	a0001c0094t0002 a0017c0101t0008 a0001c0094t0002 a0017c0101t0008	a0001c0094t0002g0110 a0017c0101t0008g0023 a0001c0094t0002g0110 a0017c0101t0008g0023	2	126	0.0159	-127	c.819 others(19): Show c.819-41769_819-41643del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSTPP1_chr11_46931761_47167247	47097292	CGCCCAGC others(120): Show CGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCC GCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00609.hp2 others(51): Show HG00280.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01192.hp2 HG01361.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02080.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02698.hp1 HG03492.hp1 HG03704.hp1 HG03831.hp1 HG04199.hp1 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18971.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18983.hp1 NA18989.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA19000.hp1 NA19011.hp2 NA19056.hp2 NA19062.hp1 NA19080.hp1 NA19083.hp1 NA19084.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0008 a0001c0001 a0001c0007 a0005c0008	a0001c0001t0001 a0001c0007t0001 a0005c0008t0001 a0001c0001t0001 a0001c0007t0001 a0005c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(51): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0171 a0001c0007t0001g0063 a0005c0008t0001g0003	54	224	0.2411	-127	c.281 others(19): Show c.281-40348_281-40222del	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
DACH1_chr13_71432966_71872204	71734129	ATATACCC others(120): Show ATATACCCCATATATATGTATATCCCATATACGTATACCCCATATATATG TATATCCCATATACGTATACCCATATATATGTATATCCCATATACGTATA CCCCATATATATGTATATCCCATATACG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA20300.hp2 HG03130.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0032 a0003c0003t0002g0007 a0001c0001t0002g0032 a0003c0003t0002g0007	2	102	0.0196	-127	c.849 others(19): Show c.849-52346_849-52220del	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DBP_chr19_48625030_48642379	48632328	GGGTTTCA others(120): Show GGGTTTCACCATGTTGGCCAGGATGGTCTCCTGATCTCGTGATCTGTCCG CCTCGGCCTCCCAAAGTGCTGTGATTACAGGTGTGAGACACCACACCCGG AACATTTTTGTACTTTTAGTAGAGGCGA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	388	0.0026	-127	c.762 others(16): Show c.762+989_762+1115del	DBP	ENSG00000105516.11	transcript	ENST00000222122.10	protein_coding	3/3			chr19	TogoVar
DCBLD2_chr3_98790941_98906695	98837948	GTGGCTGG others(120): Show GTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGCA	G G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0303 a0001c0003t0022g0303	1	330	0.0030	-127	c.571 others(19): Show c.571+11386_571+11512del	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DDX1_chr2_15586868_15636101	15611754	CCCTCCCG others(120): Show CCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCTGGGCAGAGGCGCCCCTCA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01346.hp1 NA19003.hp2 HG01255.hp1 HG01346.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0078	3	396	0.0076	-127	c.957 others(17): Show c.957-1455_957-1329del	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX23_chr12_48824756_48857163	48842514	CGCCCGGC others(120): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG06807.hp2 HG02559.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0006 a0001c0002t0003 a0001c0003t0006	a0001c0002t0003g0072 a0001c0003t0006g0191 a0001c0002t0003g0072 a0001c0003t0006g0191	2	348	0.0058	-127	c.320 others(17): Show c.320+1299_320+1425del	DDX23	ENSG00000174243.11	transcript	ENST00000308025.8	protein_coding	3/16			chr12	TogoVar
DEFB124_chr20_31460471_31480127	31470036	CGCCCCTC others(120): Show CGCCCCTCACCTCCCGGACGGGGCGGCTGGACGGGCAGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGCGGGGCGCCTCAC TTCCTAGTAGGGGCGGCCGGGCAGAGGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01069.hp1 others(53): Show HG00280.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01167.hp1 HG01192.hp2 HG01243.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01975.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03834.hp1 HG06807.hp2 NA19030.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0003c0002t0002 a0001c0001t0002 a0003c0002t0002	a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0013 others(35): Show a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0003c0002t0002g0117 a0003c0002t0002g0118 a0003c0002t0002g0119	56	362	0.1547	-127	c.58+ others(15): Show c.58+2793_58+2919del	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DGKB_chr7_14140049_14907751	14212280	TTTTACTC others(120): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTT TTGTGATATTTACTCTCATGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp2 HG02922.hp1 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0003 a0001c0006t0008 a0001c0002t0003 a0001c0006t0008	a0001c0002t0003g0135 a0001c0006t0008g0080 a0001c0002t0003g0135 a0001c0006t0008g0080	2	148	0.0135	-127	c.212 others(21): Show c.2123-34256_2123-34130del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DIP2C_chr10_269201_694668	429432	CGGACCCT others(120): Show CGGACCCTGGCTGCCTCCCCCCGGACCCTGGCTGCCTCCCCCCGGACCCT GGCTGCCTCCCCCCGGACCCTGGCTGCCTCCCCCCGGACCCTGGCTGCCT CCCCCACAGACCCTGGCTGCCTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18970.hp2 NA19007.hp2 HG01099.hp2 NA18970.hp2 NA19007.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0068 a0001c0004t0001g0084 a0001c0004t0001g0086 a0001c0004t0001g0068 a0001c0004t0001g0084 a0001c0004t0001g0086	3	88	0.0341	-127	c.395 others(17): Show c.395-6526_395-6400del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1419201	CGTGCGTG others(120): Show CGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGGTTTTGTTTTCCTTT TATAAATGGTTATTTTTGGTTGACTCACAGTAATTGTACATATTTGTGGG ATACTATGTTACACTCTGATACGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0001 a0002c0001t0011g0001	1	40	0.0250	-127	c.107 others(19): Show c.107-82161_107-82035del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJC25_chr9_111626334_111659345	111641193	CGCCTGGC others(120): Show CGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCC CCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19063.hp1 NA18981.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	2	412	0.0049	-127	c.337 others(17): Show c.337-5910_337-5784del	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar

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