Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPCS2_chr11_74944266_74984033	74948182	CAATACAA others(154): Show CAATACAACGTAATAGAGCATGGTATAATACAATACTGCTATTTGATAAC TCTGTCATGGAGTAGTAGTTCCACCAGAGTAGCAACCAGGTCTATCTTGA TCCCCTGTATCCGTTAGTACAATATTGGTGCTCAATATACATTTGTGAAA AAAATTAATTAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03041.hp2 others(2): Show HG02895.hp2 HG02897.hp1 HG03041.hp2 HG06807.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0022 a0001c0001t0002g0287 a0001c0001t0002g0289	5	378	0.0132	-161	c.-11 others(10): Show c.-1103_-943del	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding		1083		chr11	TogoVar
SPTSSA_chr14_34427788_34467240	34443198	GGTGTGTG others(154): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGATG GAGTTTTCCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTC ACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGA GGGTGTGAGTGT	G G	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA19060.hp1 NA18988.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	344	0.0058	-161	c.113 others(17): Show c.113-8055_113-7895del	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
TEX19_chr17_82354247_82368775	82361234	CCCAGTTT others(154): Show CCCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGTTTC CCCCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGTTTCCCTTAGGTTT CCTCAAGTTGCCTCAGTTTCCTTCAGGTTCCCTCAATTTCCATCAGGTCC CCTCAGGCTCTG	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0056 a0001c0002t0004g0056	1	380	0.0026	-161	c.-27 others(17): Show c.-271-632_-271-472del	TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
TPO_chr2_1408463_1548673	1522188	TCTCTCTA others(154): Show TCTCTCTACCCCACACCGGCCCGCCACCGTGCCCTCACAGTCTCTCTACC CCACACCTGCCCGCCACCGTGCCCTCACAGTCTCTCTACCCCACACCGGC CCTGCCACCTTGCCCTCACAGTCTCTCTACCCCACACCTGCCTGCCACCG TGCCCTCACAGA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0072 a0004c0007t0004g0072	1	130	0.0077	-161	c.261 others(19): Show c.2618+5267_2618+5427del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TYW1_chr7_66991833_67244514	67039938	AGCATGAG others(154): Show AGCATGAGCCACCATGCCTGGTCTATTTTTTTTTTTTGAGATGGAGTCTC ACTGTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAG CCTCCGCCTCCTGGGTTCAAGCAGTTCTCCCATCCCAGCCTCCCGAGTAG CTAGGATTACAG	A A	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	364	0.0028	-161	c.985 others(18): Show c.985-10005_985-9845del	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBR2_chr6_42559029_42698505	42601880	TTTTTTTT others(154): Show TTTTTTTTTTGATGGAGTTTTGCTCTGTTGCCCAGGCTGGAGTACAGTGG CACAATCTCGGTTCCCTGCAACCTCCGTCTCCTGGGTTCAAGCGATTCTC CTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGCACCACCACCACACTC AACTAACTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01069.hp1 others(56): Show HG00438.hp1 HG00741.hp2 HG01069.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01361.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01978.hp2 HG02109.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18963.hp2 NA18988.hp2 NA19002.hp2 NA19009.hp2 NA19077.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0005 a0012 a0002 a0005 a0012	a0002c0004 a0002c0013 a0005c0011 others(1): Show a0002c0004 a0002c0013 a0005c0011 a0012c0017	a0002c0004t0002 a0002c0004t0004 a0002c0004t0012 others(6): Show a0002c0004t0002 a0002c0004t0004 a0002c0004t0012 a0002c0004t0021 a0002c0004t0026 a0002c0004t0028 a0002c0013t0004 a0005c0011t0004 a0012c0017t0004	a0002c0004t0002g0153 a0002c0004t0004g0010 a0002c0004t0004g0011 others(56): Show a0002c0004t0002g0153 a0002c0004t0004g0010 a0002c0004t0004g0011 a0002c0004t0004g0012 a0002c0004t0004g0094 a0002c0004t0004g0096 a0002c0004t0004g0104 a0002c0004t0004g0105 a0002c0004t0004g0107 a0002c0004t0004g0108 a0002c0004t0004g0109 a0002c0004t0004g0110 a0002c0004t0004g0111 a0002c0004t0004g0112 a0002c0004t0004g0113 a0002c0004t0004g0114 a0002c0004t0004g0115 a0002c0004t0004g0116 a0002c0004t0004g0117 a0002c0004t0004g0118 a0002c0004t0004g0119 a0002c0004t0004g0121 a0002c0004t0004g0122 a0002c0004t0004g0123 a0002c0004t0004g0124 a0002c0004t0004g0126 a0002c0004t0004g0128 a0002c0004t0004g0129 a0002c0004t0004g0130 a0002c0004t0004g0131 a0002c0004t0004g0132 a0002c0004t0004g0133 a0002c0004t0004g0134 a0002c0004t0004g0135 a0002c0004t0004g0136 a0002c0004t0004g0137 a0002c0004t0004g0138 a0002c0004t0004g0139 a0002c0004t0004g0140 a0002c0004t0004g0141 a0002c0004t0004g0142 a0002c0004t0004g0143 a0002c0004t0004g0144 a0002c0004t0004g0145 a0002c0004t0004g0147 a0002c0004t0004g0149 a0002c0004t0004g0150 a0002c0004t0004g0151 a0002c0004t0004g0152 a0002c0004t0012g0100 a0002c0004t0012g0101 a0002c0004t0021g0125 a0002c0004t0026g0095 a0002c0004t0028g0120 a0002c0013t0004g0009 a0002c0013t0004g0103 a0005c0011t0004g0146 a0005c0011t0004g0148 a0012c0017t0004g0127	59	342	0.1725	-161	c.532 others(17): Show c.532-1706_532-1546del	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	4/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
VCX3A_chrX_6528618_6540118	6533331	ACACCACC others(154): Show ACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACACC ACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCC CTCCCCACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02723.hp2 HG02895.hp1 HG02630.hp2 HG02723.hp2 HG02895.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0005 a0005c0006t0001g0005	3	74	0.0405	-161	c.25 others(9): Show c.253_*413del	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		286		chrX	TogoVar
WFIKKN1_chr16_625985_639117	631718	CTCCCATC others(154): Show CTCCCATCCACTTCTCCCACCCCTTCACTGCCTCTCCTTCCATCCTCTCC TCCCACCCTCTCCTCCCATCCACTCCTCCCATCCACTTCTTCCATCCTCT TCTCCCACCCCGTCACTGCCTCTCCTTCCATCCTCTCCTATCCACTCCTC CCATCCACTTCT	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0044 a0001c0003t0001g0044	1	404	0.0025	-161	c.171 others(15): Show c.171+298_171+458del	WFIKKN1	ENSG00000127578.7	transcript	ENST00000319070.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
XPO7_chr8_21914662_22011585	21935455	ATTCTAGT others(154): Show ATTCTAGTTTTAAGCTTGATGTTCAGGTATCTTTCCAGTACTCCCTCCTT TCCATTAAATACAGATAGTCTTAACTCATATATTTGGTGTGTGCATTAGT TTTCACTGACTAGCTTGACCTTTTGCTTTTTTCTCATAGATAGGACTTTA AGACGAATTTGT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0240	1	342	0.0029	-161	c.18+ others(17): Show c.18+15670_18+15830del	XPO7	ENSG00000130227.17	transcript	ENST00000252512.14	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr8	TogoVar
XRRA1_chr11_74835910_74954091	74948182	CAATACAA others(154): Show CAATACAACGTAATAGAGCATGGTATAATACAATACTGCTATTTGATAAC TCTGTCATGGAGTAGTAGTTCCACCAGAGTAGCAACCAGGTCTATCTTGA TCCCCTGTATCCGTTAGTACAATATTGGTGCTCAATATACATTTGTGAAA AAAATTAATTAA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03041.hp1 others(2): Show HG02895.hp1 HG02897.hp2 HG03041.hp1 HG06807.hp2 NA21309.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0011 a0006c0006t0011	a0006c0006t0011g0323 a0006c0006t0011g0324 a0006c0006t0011g0325 others(2): Show a0006c0006t0011g0323 a0006c0006t0011g0324 a0006c0006t0011g0325 a0006c0006t0011g0326 a0006c0006t0011g0327	5	346	0.0145	-161	c.-73 others(15): Show c.-73+585_-73+745del	XRRA1	ENSG00000166435.17	transcript	ENST00000684022.1	protein_coding	1/18			chr11	TogoVar
ZNF516_chr18_76352682_76500242	76392841	AGGCAGGT others(154): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0176 a0001c0002t0046g0176	1	346	0.0029	-161	c.181 others(21): Show c.1811-12699_1811-12539del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76392956	AGGCAGGT others(154): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0122	a0001c0001t0122g0282 a0001c0001t0122g0282	1	346	0.0029	-161	c.181 others(21): Show c.1811-12814_1811-12654del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394238	AGGCAGGT others(154): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0141 a0001c0002t0141	a0001c0002t0141g0058 a0001c0002t0141g0058	1	346	0.0029	-161	c.181 others(21): Show c.1811-14096_1811-13936del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394477	AGGTGGTC others(154): Show AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0139 a0001c0001t0139	a0001c0001t0139g0063 a0001c0001t0139g0063	1	346	0.0029	-161	c.181 others(21): Show c.1811-14335_1811-14175del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394500	GGGTGGTC others(154): Show GGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT GGGGGGAAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0118 a0002c0003t0118	a0002c0003t0118g0102 a0002c0003t0118g0102	1	346	0.0029	-161	c.181 others(21): Show c.1811-14358_1811-14198del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394588	AGGCAGGT others(154): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0196 a0002c0003t0196	a0002c0003t0196g0011 a0002c0003t0196g0011	1	346	0.0029	-161	c.181 others(21): Show c.1811-14446_1811-14286del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394661	AGGTGGTC others(154): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT GGGGGGAAGGCG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02451.hp1 HG02055.hp2 HG02257.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0008 a0001c0002t0090 a0001c0006t0026 a0001c0001t0008 a0001c0002t0090 a0001c0006t0026	a0001c0001t0008g0016 a0001c0002t0090g0119 a0001c0006t0026g0277 a0001c0001t0008g0016 a0001c0002t0090g0119 a0001c0006t0026g0277	3	346	0.0087	-161	c.181 others(21): Show c.1811-14519_1811-14359del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ABCC5_chr3_183914934_184022884	183956767	CATCACAT others(153): Show CATCACATCGGTTACATGCGGATCCGTGTGTATATCACATCTGTTACATG CAGATCCGTGTGTAAATCACATCGGTTACATGCAGATCCGTGTGTATATC ATATAGGTTACATGCAGATCCGTGTGTATATCATATAGGTTACATGCAGA TCCGTGTGTAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG01069.hp1 others(70): Show HG00423.hp2 HG00544.hp1 HG01069.hp1 HG01071.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01993.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02451.hp2 HG02523.hp1 HG02602.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18945.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18994.hp1 NA18998.hp1 NA19012.hp1 NA19030.hp1 NA19060.hp2 NA19064.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0009 a0001c0016 a0004c0021 a0005c0014	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(9): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0002t0001 a0001c0005t0010 a0001c0007t0008 a0001c0009t0013 a0001c0016t0014 a0004c0021t0003 a0005c0014t0001	a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0022 others(67): Show a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0022 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0226 a0001c0001t0003g0229 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0259 a0001c0001t0005g0190 a0001c0001t0006g0002 a0001c0001t0006g0015 a0001c0001t0006g0027 a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0055 a0001c0001t0006g0059 a0001c0001t0006g0288 a0001c0001t0006g0289 a0001c0001t0006g0351 a0001c0001t0007g0139 a0001c0001t0016g0023 a0001c0002t0001g0017 a0001c0002t0001g0074 a0001c0002t0001g0092 a0001c0002t0001g0111 a0001c0002t0001g0360 a0001c0005t0010g0110 a0001c0005t0010g0192 a0001c0005t0010g0193 a0001c0007t0008g0253 a0001c0007t0008g0254 a0001c0009t0013g0236 a0001c0009t0013g0237 a0001c0016t0014g0265 a0004c0021t0003g0212 a0005c0014t0001g0107	73	378	0.1931	-160	c.248 others(19): Show c.2482+2806_2482+2965del	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	17/29			chr3	TogoVar
ABCC5_chr3_183914934_184022884	183957151	CATCACAT others(153): Show CATCACATCGGTTACATGTGGGTCCGTGTGTATATCACATCGGTTACATG CTTATCCGTGTGTATATCACATCGGTTACATGCAGATCCGTGTGTATATC ACATCTGTTACATGCGGATCCGTGTGTATATGACATCAGTTACATGCGGA TCCGTGTGTAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00735.hp1 others(44): Show HG00408.hp2 HG00544.hp2 HG00735.hp1 HG00738.hp2 HG01106.hp2 HG01243.hp1 HG01358.hp2 HG02132.hp2 HG02135.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG03017.hp1 HG03209.hp2 HG03710.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18964.hp1 NA18965.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18988.hp2 NA18989.hp1 NA18998.hp1 NA19064.hp2 NA19066.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0002 a0005c0014 a0008c0015 a0001c0002 a0005c0014 a0008c0015	a0001c0002t0001 a0001c0002t0008 a0001c0002t0009 others(3): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0005c0014t0001 a0008c0015t0001	a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0029 others(44): Show a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0078 a0001c0002t0001g0092 a0001c0002t0001g0102 a0001c0002t0001g0252 a0001c0002t0001g0287 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0358 a0001c0002t0001g0359 a0001c0002t0001g0361 a0001c0002t0001g0362 a0001c0002t0001g0363 a0001c0002t0001g0364 a0001c0002t0001g0365 a0001c0002t0008g0261 a0001c0002t0008g0262 a0001c0002t0008g0263 a0001c0002t0008g0264 a0001c0002t0009g0266 a0001c0002t0009g0267 a0001c0002t0009g0268 a0001c0002t0012g0269 a0001c0002t0012g0270 a0005c0014t0001g0107 a0008c0015t0001g0043	47	378	0.1243	-160	c.248 others(19): Show c.2482+2422_2482+2581del	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	17/29			chr3	TogoVar
ABCC5_chr3_183914934_184022884	183957395	TATCCGTG others(153): Show TATCCGTGTGTATATCACATCGGTTACATGCAGATCCATGTGTATATCAC ATCTGTTACATGCGGATCCGTGTGTATATGACATCAGTTACATGCGGATC CGTGTGTAAATCACATCGGTTACATGCTTATCTGTGTGTACATCACATCA GTTACATGCGG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp1 others(67): Show HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01978.hp2 HG02027.hp2 HG02056.hp1 HG02074.hp2 HG02148.hp1 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG02818.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp1 HG03225.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 NA18612.hp1 NA18940.hp1 NA18941.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp1 NA18969.hp2 NA18970.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19062.hp2 NA19067.hp2 NA19074.hp2 NA19079.hp1 NA19088.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 others(1): Show a0001c0001 a0001c0005 a0001c0008 a0001c0020	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0005t0002 a0001c0008t0001 a0001c0020t0001	a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0021 others(66): Show a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0197 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0005g0094 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0151 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0005g0178 a0001c0001t0005g0180 a0001c0001t0005g0182 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0189 a0001c0001t0005g0191 a0001c0001t0005g0198 a0001c0001t0007g0013 a0001c0001t0007g0194 a0001c0001t0007g0195 a0001c0001t0007g0196 a0001c0001t0007g0199 a0001c0001t0007g0200 a0001c0005t0002g0274 a0001c0008t0001g0155 a0001c0008t0001g0181 a0001c0020t0001g0163	70	378	0.1852	-160	c.248 others(19): Show c.2482+2178_2482+2337del	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	17/29			chr3	TogoVar
ABCC6_chr16_16144565_16228494	16226755	CTGTCATA others(153): Show CTGTCATATTATTTGTTATATCCTTGAGAAATATTATTATTCCTCTTATC ACAGTGGGTGTACACCCTGTGATATTATTCGTTACATCCTAGGGAGATAT TGTTACCCATAATATCACAGTGGATGTACACCCTGTCATATTATTCGTTA TATCCTTGAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	357	0.0028	-160	c.-34 others(11): Show c.-3481_-3322del	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding		3262		chr16	TogoVar
ACAP2_chr3_195269745_195448020	195272787	AAAAAAAA others(153): Show AAAAAAAAAAAAGTAGGCAGTGTGGTGGCGGACACCTGCAATTCCAGCTA CTCGAGAGGCTGAGGCAAGAGAATCGCTTGAACCTAGGAGGCAGAGGATG CAGTGAGCCGAGATCATAACACTGCACTCCAGCCTGGGCGACAAGAGCAA AACCCTGTCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG01346.hp2 others(30): Show HG00438.hp2 HG00673.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02132.hp2 HG02165.hp2 HG02273.hp1 HG02523.hp2 HG02698.hp2 HG02735.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG04184.hp1 NA18747.hp2 NA18944.hp2 NA18948.hp1 NA18951.hp2 NA18974.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0015 a0001c0002t0025 others(1): Show a0001c0002t0004 a0001c0002t0015 a0001c0002t0025 a0001c0002t0035	a0001c0002t0004g0004 a0001c0002t0004g0024 a0001c0002t0004g0028 others(30): Show a0001c0002t0004g0004 a0001c0002t0004g0024 a0001c0002t0004g0028 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0044 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0056 a0001c0002t0004g0057 a0001c0002t0004g0205 a0001c0002t0004g0319 a0001c0002t0015g0038 a0001c0002t0015g0039 a0001c0002t0025g0037 a0001c0002t0035g0058	33	324	0.1019	-160	c.63 others(11): Show c.6381_*6540del	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding		1957		chr3	TogoVar
ACOX3_chr4_8361282_8445723	8393302	ATGGTGAC others(153): Show ATGGTGACACCCTGTCTCTACTGAAAAATAAAAAAAATTAGCCAGGTGTG GTGGCGGGCACCTGTAGTCCCAGCTAGTCTGGGAGGCTGAGGCAAGAGAA TTGCTTGAACCCAGGAGGCAGAAATTGCAGTGAGCCAAGATCGCACCACT GCACTCCAGCC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00609.hp2 others(107): Show HG00423.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18946.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18972.hp1 NA18974.hp2 NA18984.hp1 NA18987.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA18999.hp2 NA19005.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19058.hp1 NA19068.hp1 NA19074.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0006c0018 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0006t0003 a0001c0011t0002 a0006c0018t0001 a0008c0012t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(103): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0361 a0001c0001t0001g0364 a0001c0001t0002g0341 a0001c0001t0002g0347 a0001c0001t0003g0005 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0365 a0001c0001t0004g0239 a0001c0001t0004g0241 a0001c0001t0006g0366 a0001c0001t0009g0362 a0001c0001t0012g0339 a0001c0002t0001g0273 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0348 a0001c0002t0001g0349 a0001c0002t0001g0350 a0001c0002t0001g0351 a0001c0002t0001g0352 a0001c0002t0001g0353 a0001c0002t0001g0360 a0001c0002t0002g0011 a0001c0002t0002g0094 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0307 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0337 a0001c0002t0002g0338 a0001c0002t0004g0279 a0001c0002t0004g0280 a0001c0002t0004g0281 a0001c0002t0004g0282 a0001c0002t0004g0283 a0001c0002t0006g0096 a0001c0002t0008g0008 a0001c0002t0008g0009 a0001c0006t0003g0284 a0001c0006t0003g0334 a0001c0011t0002g0359 a0006c0018t0001g0354 a0008c0012t0001g0314	110	380	0.2895	-160	c.118 others(18): Show c.1180-1009_1180-850del	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	10/17			chr4	TogoVar
ADAMTS2_chr5_179105853_179350461	179313378	ACACACAC others(153): Show ACACACACACCGAGACAGAGGAGGGCCTGGCCAGAGCAGGGGTGTCAGCA GAGGGGACGCACACGCATTCACACTCATGCACACACTCACACCGAGACAG AGGAGGGCCTGGCCAGAGCAGGGGTGTCAGCAGAGGGGACGCACACGCAT TCACACTCATG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp1 HG01261.hp1 others(22): Show HG00639.hp1 HG01069.hp1 HG01261.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03579.hp1 NA19240.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0009 a0013 a0015 a0028 a0030 a0036	a0001c0001 a0001c0004 a0001c0018 others(20): Show a0001c0001 a0001c0004 a0001c0018 a0001c0048 a0001c0049 a0001c0052 a0002c0002 a0002c0012 a0002c0028 a0002c0030 a0002c0031 a0003c0098 a0003c0109 a0004c0006 a0004c0039 a0004c0111 a0005c0019 a0009c0021 a0013c0037 a0015c0087 a0028c0112 a0030c0085 a0036c0081	a0001c0001t0001 a0001c0004t0002 a0001c0018t0002 others(21): Show a0001c0001t0001 a0001c0004t0002 a0001c0018t0002 a0001c0048t0004 a0001c0049t0004 a0001c0052t0002 a0002c0002t0001 a0002c0002t0004 a0002c0012t0013 a0002c0028t0004 a0002c0030t0011 a0002c0031t0004 a0003c0098t0004 a0003c0109t0012 a0004c0006t0001 a0004c0039t0002 a0004c0111t0004 a0005c0019t0003 a0009c0021t0009 a0013c0037t0001 a0015c0087t0001 a0028c0112t0001 a0030c0085t0002 a0036c0081t0028	a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0004t0002g0005 others(22): Show a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0004t0002g0005 a0001c0018t0002g0181 a0001c0048t0004g0195 a0001c0049t0004g0149 a0001c0052t0002g0148 a0002c0002t0001g0117 a0002c0002t0004g0006 a0002c0012t0013g0071 a0002c0028t0004g0119 a0002c0030t0011g0128 a0002c0031t0004g0051 a0003c0098t0004g0272 a0003c0109t0012g0203 a0004c0006t0001g0249 a0004c0039t0002g0204 a0004c0111t0004g0211 a0005c0019t0003g0152 a0009c0021t0009g0093 a0013c0037t0001g0048 a0015c0087t0001g0200 a0028c0112t0001g0206 a0030c0085t0002g0202 a0036c0081t0028g0053	25	276	0.0906	-160	c.534 others(19): Show c.534+30229_534+30388del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
AGMO_chr7_15195317_15567015	15354311	CACGCGTG others(153): Show CACGCGTGTATATACGTACGCGTGTATATACACGCGTGTATATAGACGTG TGTATATAGACGTGTGTATACACGTGTGTGTATACACGTGTGTGTACACA CGTGTGTGTATACACACACGTGTGTGTATACACACGTGTGTGTATACACA CGTGTGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp2 HG01167.hp2 others(6): Show HG00735.hp2 HG01074.hp2 HG01167.hp2 HG01175.hp2 HG01891.hp2 HG02257.hp1 HG03491.hp1 NA19064.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0001g0078 a0001c0001t0001g0114 others(6): Show a0001c0001t0001g0026 a0001c0001t0001g0078 a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0002g0069 a0001c0001t0002g0125 a0001c0001t0002g0162 a0001c0001t0002g0176	9	236	0.0381	-160	c.126 others(21): Show c.1263+11043_1263+11202del	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AKAP17A_chrX_1586604_1607520	1596695	CCCTCCTA others(153): Show CCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTTCTCCGTCCCTCCCACCC TCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCTTCCTCCTCCATCCCTC CCGCTGTGCCCTCCTAGTGAGGCGGATTCGTCCTCTTCCTCCTCCATCCC TCCTGCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01099.hp1 HG01168.hp2 others(3): Show HG00408.hp2 HG01099.hp1 HG01168.hp2 HG01175.hp1 HG01993.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0018 a0001c0001t0001 a0001c0004t0018	a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0001t0001g0101 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0001t0001g0101 a0001c0001t0001g0117 a0001c0004t0018g0015	6	151	0.0397	-160	c.911 others(17): Show c.911+1224_911+1383del	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
AKAP6_chr14_32324298_32842684	32454625	TTCCTTCC others(153): Show TTCCTTCCTTCCCTCCCTCCCTCCTTCCCTCTCTCCTTCCCTCCTTCCCT CCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCCTTCTCTCC TTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCT CCTTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0066 a0003c0005t0001g0066	1	154	0.0065	-160	c.324 others(19): Show c.324+20812_324+20971del	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
ALDH3B2_chr11_67657155_67679623	67670050	CTCTATGT others(153): Show CTCTATGTGTATGGGTGTGTGTGTCCACATGTGTCTGTGTGTGTATGGGT GTCTGTGTGTGTATGGGTGTCTGTGTGTGTGTATGGGTGTCTGTGTGTGT ATGGGTGTCTGTGTCCACGTGTGTCTGTGTGTGTATGGGTGTCTGTGTGT GTATGGGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp2 HG02976.hp1 others(1): Show HG02055.hp1 HG02486.hp2 HG02976.hp1 HG03195.hp2	a0008 a0011 a0008 a0011	a0008c0012 a0011c0016 a0008c0012 a0011c0016	a0008c0012t0010 a0011c0016t0006 a0008c0012t0010 a0011c0016t0006	a0008c0012t0010g0197 a0008c0012t0010g0198 a0011c0016t0006g0050 a0008c0012t0010g0197 a0008c0012t0010g0198 a0011c0016t0006g0050	4	390	0.0103	-160	c.-24 others(19): Show c.-244-2575_-244-2416del	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9			chr11	TogoVar
AP3D1_chr19_2095988_2156566	2128783	GCCCCCGC others(153): Show GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCAACACTGCACCCCGTGG AGCCGGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02071.hp2 HG01256.hp1 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0353 a0001c0001t0003g0379 a0001c0001t0003g0353 a0001c0001t0003g0379	2	406	0.0049	-160	c.806 others(15): Show c.806+147_806+306del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128830	AGCTCCGA others(153): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCAACACTGCACCCCG TGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGC CCGCCCCCGCC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG00733.hp2 others(5): Show HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01074.hp1 HG01884.hp2 HG02257.hp1 HG03486.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0005 a0001c0010t0001	a0001c0001t0001g0010 a0001c0001t0001g0136 a0001c0001t0001g0180 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0136 a0001c0001t0001g0180 a0001c0001t0002g0103 a0001c0001t0003g0364 a0001c0002t0001g0287 a0001c0003t0005g0211 a0001c0010t0001g0299	8	406	0.0197	-160	c.806 others(15): Show c.806+100_806+259del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128908	GCCGCTCC others(153): Show GCCGCTCCAACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGA CACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCC CGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCG GCCCGCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02074.hp1 NA18983.hp2 others(1): Show HG01993.hp2 HG02074.hp1 NA18983.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0069 a0001c0001t0001g0169 a0001c0001t0001g0177 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0003g0383	4	406	0.0099	-160	c.806 others(14): Show c.806+22_806+181del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARHGAP24_chr4_85470150_86007666	85875008	ATAAGTTA others(153): Show ATAAGTTATATAAAATATTTATATATACTATATTATTTATATATAATATA TTTGTTTTATATATTATATTATATATAATATATTTATCTTATATATTATA TTATATATAATATATTTATCTTATATATTATATTATATATAATATATTTA TCTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0084 a0001c0002t0012g0084	1	108	0.0093	-160	c.269 others(19): Show c.269-48639_269-48480del	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9			chr4	TogoVar
ARHGAP39_chr8_144524179_144690846	144620226	TGTGTGTG others(153): Show TGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCC CGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTT AGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTTAGCCTGTGTG TCCAAGGGAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp2 others(13): Show HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00639.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01891.hp1 HG01952.hp1 HG02109.hp2 HG02148.hp1 HG02280.hp1 HG02300.hp2 HG02630.hp1 HG02738.hp2 NA18962.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0010 a0003c0011 a0004c0009	a0001c0001t0003 a0001c0001t0020 a0001c0002t0001 others(8): Show a0001c0001t0003 a0001c0001t0020 a0001c0002t0001 a0001c0003t0001 a0001c0003t0009 a0001c0005t0001 a0001c0005t0010 a0001c0007t0001 a0001c0010t0001 a0003c0011t0001 a0004c0009t0001	a0001c0001t0003g0068 a0001c0001t0020g0079 a0001c0002t0001g0103 others(13): Show a0001c0001t0003g0068 a0001c0001t0020g0079 a0001c0002t0001g0103 a0001c0003t0001g0005 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0110 a0001c0003t0009g0004 a0001c0005t0001g0006 a0001c0005t0001g0010 a0001c0005t0001g0011 a0001c0005t0010g0001 a0001c0007t0001g0017 a0001c0010t0001g0009 a0003c0011t0001g0072 a0004c0009t0001g0008	16	246	0.0650	-160	c.-81 others(19): Show c.-81-14691_-81-14532del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ASMT_chrX_1610059_1648081	1637297	TCATGAGG others(153): Show TCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAG TGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGTGGGCACAG CCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCA TCCTGATGGCA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	223	0.0045	-160	c.910 others(15): Show c.910+766_910+925del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASRGL1_chr11_62332448_62398412	62362511	CATATATT others(153): Show CATATATTATTTATATAATATATATTATATAAAATATATAACATATATTA TTTATATAATATATATTATATAAAATATATAATATATATTATATAAAATA TATATTATATATTATATAAAATATATATAATATATAATATATATTATATA AAATATATAAT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	370	0.0027	-160	c.491 others(17): Show c.491+5377_491+5536del	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP11A_chr13_112685038_112892168	112766866	AGGGTGTG others(153): Show AGGGTGTGGGAGTGCTGGGAGCCCCTGTGGAAAGGTGGGGAGATGTGGGG GTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGAG CCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTGTTGGGGGCCACTGTGGG AAGGTGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0113 a0002c0003t0002g0113	1	254	0.0039	-160	c.40- others(17): Show c.40-18267_40-18108del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	83032057	GCAGACCG others(153): Show GCAGACCGAACTCGGGAGCTGAACAACCAGGTCAGACCAGGCCAGGCCTC CGACCCAGACCGAGCTCGGGAGCTGAACAACGGGTCAGACCAGGCCAGGC CTCCGACGCAGACCGAACTCGGGAGCTGAACAACGGGTCAGACCAGGCCA GGCCTCCGACC	G G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0250 a0001c0007t0005g0250	1	266	0.0038	-160	c.297 others(17): Show c.297+2818_297+2977del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	381350	GTCCTGAC others(153): Show GTCCTGACCACCTCTCCGCCCCCGGCCCCGGGTTCCTGACCACCTCTCCG CCCCCGGCCCCGGGGTCCTGACCACCTCTCCGCCCCCGGCCCCGGGTTCC TGACCACCTCTCCGCCCCCGGCCCCGGGGTCCTGACCACCTCTCCGCCCC CGGCCCCGGGT	G G	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0139 a0002c0002t0001g0139	1	184	0.0054	-160	c.299 others(17): Show c.2997-287_2997-128del	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C1orf159_chr1_1076823_1121089	1080649	ACCCCCAC others(153): Show ACCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCT GTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCC CCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCT CCTTCCCTCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01884.hp2 HG02080.hp1 others(20): Show HG01433.hp2 HG01884.hp2 HG02080.hp1 HG02109.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 NA18967.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19082.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0002 a0001c0004t0005	a0001c0001t0002g0166 a0001c0001t0002g0233 a0001c0001t0002g0239 others(20): Show a0001c0001t0002g0166 a0001c0001t0002g0233 a0001c0001t0002g0239 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0005g0027 a0001c0001t0005g0072 a0001c0001t0006g0228 a0001c0001t0007g0105 a0001c0001t0007g0143 a0001c0001t0007g0144 a0001c0001t0007g0146 a0001c0001t0007g0147 a0001c0001t0007g0289 a0001c0001t0007g0290 a0001c0001t0007g0299 a0001c0001t0007g0300 a0001c0001t0007g0304 a0001c0002t0002g0243 a0001c0002t0002g0311 a0001c0004t0005g0210 a0001c0004t0005g0215	23	326	0.0706	-160	c.20 others(11): Show c.2084_*2243del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1173		chr1	TogoVar
CACNA1C_chr12_2047987_2702950	2105817	TGGGCATC others(153): Show TGGGCATCCTGAAGCCACTGGGCGCCCACCCTGGGGAGGGTTTCCACCTC AGCTGGGCATCGTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCAC CTCAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTC CACCTCAGCTG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0038	1	104	0.0096	-160	c.50- others(15): Show c.50-9402_50-9243del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2106160	GCCCACCC others(153): Show GCCCACCCTGGAGAGAGTTTCCACCTCAGCTGGGCGTCCTGAAGCCACTG GGTGCCCACCCCGGAGAGGGTTTCCACCTGAGCTGGGCGTCCTGAAGCCA CTGGGCGCCCACCCCGGGGAGGATTTCTACCTCATCTGGGGCGTCCTGAA GCCACTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03017.hp1 HG03195.hp1 others(4): Show HG01891.hp2 HG03017.hp1 HG03195.hp1 HG03516.hp2 NA18906.hp1 NA18966.hp1 NA19003.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0004c0034	a0001c0001t0001 a0001c0003t0037 a0001c0004t0010 others(4): Show a0001c0001t0001 a0001c0003t0037 a0001c0004t0010 a0001c0004t0023 a0001c0005t0002 a0001c0006t0001 a0004c0034t0009	a0001c0001t0001g0029 a0001c0003t0037g0003 a0001c0004t0010g0020 others(4): Show a0001c0001t0001g0029 a0001c0003t0037g0003 a0001c0004t0010g0020 a0001c0004t0023g0028 a0001c0005t0002g0090 a0001c0006t0001g0033 a0004c0034t0009g0041	7	104	0.0673	-160	c.50- others(15): Show c.50-9056_50-8897del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNG7_chr19_53904278_53948950	53922723	TCTGGTCA others(153): Show TCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGGGTTGTCC CAGGCTCGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTG TCCCAGGTCTGGTCATTGGTGCAGTTGCCCCAGGTCTGGTCATTGGTGGA GTTGACTCAGG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02280.hp2 HG01496.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0335 a0001c0001t0001g0245 a0001c0001t0001g0335	2	364	0.0055	-160	c.424 others(17): Show c.424+7238_424+7397del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMKK1_chr17_3855315_3898053	3867966	CAGGATCT others(153): Show CAGGATCTGGGGGAGATGCAGGCACCGTCTAACTGATACGCGGGCTCTGG GGGAGAAGCAGGCGCCGTCTAACTGATACACAGGATCTGGGGGAGAAGCA GGCGCAGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCT AACTGATACGT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0411 a0001c0002t0058g0411	1	446	0.0022	-160	c.134 others(19): Show c.1341+1361_1341+1520del	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3867982	TGCAGGCA others(153): Show TGCAGGCACCGTCTAACTGATACGCGGGCTCTGGGGGAGAAGCAGGCGCC GTCTAACTGATACACAGGATCTGGGGGAGAAGCAGGCGCAGTCTAACTGA TACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGCT CTGGGGGAGAA	T T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0243 a0002c0001t0001g0243	1	446	0.0022	-160	c.134 others(19): Show c.1341+1345_1341+1504del	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	ATATATAT others(153): Show ATATATATATAATTTTATATATATATAATTATATATATAATTTTATATAT ATATAATTATATATATAATTATATATATAATTTTATATATAATTTTATAT ATATATAATTATATATAATTTTATATATATAATTATATATATAATTTTAT ATATATAATTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03017.hp1 HG03491.hp2 others(20): Show HG00438.hp2 HG03017.hp1 HG03491.hp2 HG03831.hp2 HG03942.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18963.hp1 NA18966.hp2 NA18968.hp1 NA18983.hp2 NA18988.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19083.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0006 a0001c0008 a0002c0006	a0001c0008t0002 a0001c0008t0004 a0001c0008t0008 others(2): Show a0001c0008t0002 a0001c0008t0004 a0001c0008t0008 a0002c0006t0004 a0002c0006t0008	a0001c0008t0002g0056 a0001c0008t0002g0184 a0001c0008t0002g0185 others(20): Show a0001c0008t0002g0056 a0001c0008t0002g0184 a0001c0008t0002g0185 a0001c0008t0004g0102 a0001c0008t0004g0223 a0001c0008t0008g0101 a0001c0008t0008g0150 a0001c0008t0008g0151 a0001c0008t0008g0220 a0001c0008t0008g0321 a0002c0006t0004g0057 a0002c0006t0004g0059 a0002c0006t0004g0075 a0002c0006t0004g0081 a0002c0006t0004g0082 a0002c0006t0004g0209 a0002c0006t0004g0237 a0002c0006t0004g0247 a0002c0006t0004g0281 a0002c0006t0004g0282 a0002c0006t0004g0283 a0002c0006t0004g0289 a0002c0006t0008g0058	23	330	0.0697	-160	c.907 others(15): Show c.907+168_907+327del	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN11_chr6_44153820_44189401	44181664	ACACACAC others(153): Show ACACACACATACTCACATACAGACACAACCACACCACACTCACACACACA CACACTCACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACACACACACATACACACTCACATACAGA CACAACCACAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	460	0.0022	-160	c.193 others(17): Show c.1938+353_1938+512del	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCZ1B_chr7_6793937_6831275	6818550	AGAAAGAA others(153): Show AGAAAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGACAGAAAG AAAGAAAGAAAGAAAGACAAGAAAGAAAGAAAGACAAGAAAGAAAGAAAG ACAGAAAGAAAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGACAAGA AAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01346.hp2 HG01952.hp1 others(2): Show HG01081.hp1 HG01346.hp2 HG01952.hp1 HG02300.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0188 others(2): Show a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0006g0189	5	354	0.0141	-160	c.698 others(17): Show c.698+1056_698+1215del	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding	7/14			chr7	TogoVar
CDC20B_chr5_55107971_55178177	55147070	CATATTAT others(153): Show CATATTATATAAACATAAATATGTTATGTTTTATATATTTATATATTATA TAAACATAAATATGTTGTTTTATATATTTATATATTATATAAACATAAAT ATGTTGTTTTATATATTTATATATTATATAAACATAAATATGTTATGTTT TATATATTTAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp2 HG02723.hp1 others(5): Show HG02055.hp2 HG02647.hp2 HG02723.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03540.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0002 a0005c0005t0001 a0005c0005t0002	a0005c0005t0001g0136 a0005c0005t0002g0260 a0005c0005t0002g0261 others(5): Show a0005c0005t0001g0136 a0005c0005t0002g0260 a0005c0005t0002g0261 a0005c0005t0002g0262 a0005c0005t0002g0263 a0005c0005t0002g0264 a0005c0005t0002g0265 a0005c0005t0002g0266	8	330	0.0242	-160	c.127 others(15): Show c.127-374_127-215del	CDC20B	ENSG00000164287.13	transcript	ENST00000381375.7	protein_coding	2/11			chr5	TogoVar
CDCP1_chr3_45077277_45151378	45108768	TATGCATG others(153): Show TATGCATGTATACATATATATGCATGTATATATATATATGCATGTATACA TATATATGCATGTATATATATATATGCATGTATACATATATATGCATGTA TATATATATATGCATGTATACATATATATATATATGCATGTATACATATA TATATATATGC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02055.hp1 HG02083.hp1 others(4): Show HG00544.hp2 HG02055.hp1 HG02083.hp1 HG02132.hp2 HG02273.hp2 HG02615.hp1 NA19056.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0022 a0001c0001 a0002c0002 a0010c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0006 a0010c0022t0009	a0001c0001t0001g0087 a0001c0001t0001g0282 a0001c0001t0001g0364 others(4): Show a0001c0001t0001g0087 a0001c0001t0001g0282 a0001c0001t0001g0364 a0001c0001t0002g0193 a0001c0001t0004g0010 a0002c0002t0006g0064 a0010c0022t0009g0257	7	384	0.0182	-160	c.102 others(19): Show c.1024+1545_1024+1704del	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	4/8			chr3	TogoVar
CFAP221_chr2_119539449_119661661	119552287	TAATAAAT others(153): Show TAATAAATAGAAATATTTCTTTCTTTAATAAGAAATAAATAGAAATATTT CTTTCTTTAATAAGAAATAAATAGAAATATTTCTTTCTTTAATAAGAAAT AAATAGAAATATTTCTTTCTTTAATAAGAAATAAATAGAAATATTTCTTT CTTTAATAAGA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02717.hp1 HG00544.hp1 HG02717.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0008 a0003c0003t0001g0042 a0002c0002t0002g0008 a0003c0003t0001g0042	2	226	0.0089	-160	c.240 others(17): Show c.240+3412_240+3571del	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar

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