Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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No_samplehapid

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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
ACAP2_chr3_195269745_195448020	195272798	AGTAGGCA others(140): Show AGTAGGCAGTGTGGTGGCGGACACCTGCAATTCCAGCTACTCGAGAGGCT GAGGCAAGAGAATCGCTTGAACCTAGGAGGCAGAGGATGCAGTGAGCCGA GATCATAACACTGCACTCCAGCCTGGGCGACAAGAGCAAAACCCTGTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG02976.hp1 NA18983.hp2 others(1): Show HG00408.hp1 HG02976.hp1 NA18983.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0092 a0001c0001t0006g0094 a0001c0001t0006g0095 others(1): Show a0001c0001t0006g0092 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0313	4	324	0.0124	-147	c.63 others(11): Show c.6383_*6529del	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding		1946		chr3	TogoVar
ACTN2_chr1_236681499_236769631	236755717	CTGGTTAT others(140): Show CTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCC TGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCT GGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0036 a0001c0001t0011g0036	1	344	0.0029	-147	c.215 others(17): Show c.2154+594_2154+740del	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756344	TGTTAGAA others(140): Show TGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACC GTTAGAACCCTGGTTATAGAGTATGTACTGCAGAGTGCCCGCTGCCACCA TTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp2 HG02717.hp1 others(12): Show HG01243.hp2 HG02451.hp2 HG02717.hp1 HG02717.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp1 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0005 a0001c0004t0002 a0001c0004t0005	a0001c0004t0002g0064 a0001c0004t0005g0056 a0001c0004t0005g0057 others(12): Show a0001c0004t0002g0064 a0001c0004t0005g0056 a0001c0004t0005g0057 a0001c0004t0005g0060 a0001c0004t0005g0061 a0001c0004t0005g0063 a0001c0004t0005g0065 a0001c0004t0005g0077 a0001c0004t0005g0081 a0001c0004t0005g0120 a0001c0004t0005g0163 a0001c0004t0005g0177 a0001c0004t0005g0197 a0001c0004t0005g0198 a0001c0004t0005g0199	15	344	0.0436	-147	c.215 others(18): Show c.2155-1127_2155-981del	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756394	GTTAGAAC others(140): Show GTTAGAACCCTGGTTATAGAGTATGTACTGCAGAGTGCCCGCTGCCACCA TTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGT TAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACCG	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0337 a0001c0001t0012g0337	1	344	0.0029	-147	c.215 others(18): Show c.2155-1078_2155-932del	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756981	TGTTAGAA others(140): Show TGTTAGAACCCTGGTTATAGAGTATATACTACAGAGTGCCCGCTGCCACT GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCTGCTGCCACTG TTAGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01258.hp1 HG02145.hp1 others(1): Show HG01123.hp1 HG01258.hp1 HG02145.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0075 a0001c0001t0004g0200 a0001c0001t0012g0109 others(1): Show a0001c0001t0004g0075 a0001c0001t0004g0200 a0001c0001t0012g0109 a0001c0001t0012g0337	4	344	0.0116	-147	c.215 others(17): Show c.2155-416_2155-270del	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADAP1_chr7_892900_959680	934051	GGTGCTGG others(140): Show GGTGCTGGAGAGCCGGGGACTGGGGTCAGTGGTGCTGGAGAGCCGGGAGC CGGGGTCAGTGGTGCTGGAGAGCCGGGGGCCGGGGTCAGTGGTGGTGCAG AGCCGGGGACCGGGGTCAGTGGTGCTGGAGAGCCGGGGGCCGGGGTCA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	14	0.0714	-147	c.213 others(17): Show c.213+1177_213+1323del	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	2/10			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529789	TATTTCTC others(140): Show TATTTCTCTATATATATATTCTATATATATATTTCCATATATATTCTATA TACATATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAG	T T	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	236	0.0042	-147	c.409 others(19): Show c.409+14836_409+14982del	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGPAT4_chr6_161124967_161279061	161265287	TTAGTACC others(140): Show TTAGTACCCACCGCTGGACTGGGTGCTGGATTAGTACCCACCGCTGGACT GGGTGCTGATTAGTACCCACCGCTGGACTGGGTGCTGACTAGTACCCACC GCTGGACTGGGTGCTGGATTAGTACCCACCGCTGGACTGGGTGCTGAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0030 a0001c0001t0055g0030	1	264	0.0038	-147	c.-90 others(17): Show c.-90+8504_-90+8650del	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	1/8			chr6	TogoVar
AHRR_chr5_316714_443285	392127	ACGCAGGG others(140): Show ACGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGG CGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGC GCAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp1 HG01169.hp2 others(7): Show HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01258.hp2 HG01993.hp1 HG02040.hp1 HG02300.hp1 NA18967.hp1 NA19085.hp2 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0041 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0041 a0001c0001t0064 a0005c0005t0008	a0001c0001t0002g0058 a0001c0001t0003g0071 a0001c0001t0003g0162 others(7): Show a0001c0001t0002g0058 a0001c0001t0003g0071 a0001c0001t0003g0162 a0001c0001t0041g0078 a0001c0001t0064g0128 a0005c0005t0008g0049 a0005c0005t0008g0056 a0005c0005t0008g0057 a0005c0005t0008g0060 a0005c0005t0008g0061	10	268	0.0373	-147	c.351 others(19): Show c.351+15520_351+15666del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHR_chr7_17293652_17351147	17317889	TGCTCTTG others(140): Show TGCTCTTGTTCCATTAATGCAGAGATTTGTCATATAGTTATAGAGGAATT GTATAAAACTGAGTGCGTACCAATGAGTAACTGGAAGAATGTTAAACATC TTTGGAAGTCAGTTTTTATGTAAGAGTTTGGATAGAACAAACTTTTAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0209 a0001c0001t0005g0209	1	370	0.0027	-147	c.254 others(17): Show c.254-4610_254-4464del	AHR	ENSG00000106546.14	transcript	ENST00000242057.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKRD30B_chr18_14743172_14859667	14859137	GGAGACCA others(140): Show GGAGACCAGGAAGAGGCGCTCCTCACCTCCCAGATGGGGCGGGCTGGCAG AGGCGCTCCTCACCTCCCAGATGATGGGCAGCTGGGCAAAGGCGCTCCTC ACCTCCCAGACTGGGCGGCCAGGCAGAGGCGCTCCTCGCCTCCCACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0275	1	316	0.0032	-147	c.49 others(11): Show c.4980_*5126del	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding		4471		chr18	TogoVar
ANO3_chr11_26327130_26668289	26529257	TAATATAT others(140): Show TAATATATATTATATATTATATAATATATAATATATATTATATAATATAT ATTATATAATATATAATAGTATATAATATATAATAATATATTATATAATA ATATATTATATAATAATTATATATTATATATTATTATATATTATATAA	T T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0047 a0001c0002t0022g0047	1	190	0.0053	-147	c.738 others(17): Show c.738-1947_738-1801del	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26			chr11	TogoVar
AQP12A_chr2_240686866_240703483	240689483	ATAACCCA others(140): Show ATAACCCACAAGAGTGGACCCTCCCGCTGGGGAAGGGCGGGGAGGACCGG GAACCCACGAGAGTGGACCCTCCTGCTGGGGAAGTTCAGGGAGGACCAGG AACCCACAAGAGTGGACCCTCCCTCTGGGGAAGTTCAGGGAGGACTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0070 a0012c0018t0001g0070	1	171	0.0059	-147	c.-24 others(11): Show c.-2430_-2284del	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding		2382		chr2	TogoVar
ARHGEF10_chr8_1818926_1963641	1953182	ATTCCTTT others(140): Show ATTCCTTTCTGTATTTTATGTTGTGAAGAAGGAAGCCGGGATCTCCGTCG TTCCTTTCTGTATTTTATATTGTGAAGAAGGAAGCCGGGATCTCCGTCAT TCCTTTCTGTATTTTATGTTGTGAAGAAGGAAGCCGGGATCTCCGTCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0016 a0017 a0018 a0019 a0020 a0022 a0023 a0024 a0025	a0001c0001 a0001c0002 a0001c0003 others(144): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0023 a0001c0026 a0001c0035 a0001c0036 a0001c0037 a0001c0041 a0001c0042 a0001c0043 a0001c0046 a0001c0047 a0001c0050 a0001c0052 a0001c0062 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0085 a0001c0092 a0001c0096 a0001c0100 a0001c0101 a0001c0104 a0001c0105 a0001c0106 a0001c0110 a0001c0111 a0001c0112 a0001c0114 a0001c0115 a0001c0116 a0001c0117 a0001c0118 a0001c0119 a0001c0120 a0001c0122 a0001c0123 a0001c0131 a0001c0132 a0001c0133 a0001c0135 a0001c0140 a0001c0141 a0001c0143 a0001c0145 a0001c0153 a0001c0154 a0001c0155 a0001c0156 a0001c0157 a0002c0017 a0002c0022 a0002c0024 a0002c0025 a0002c0027 a0002c0028 a0002c0030 a0002c0031 a0002c0032 a0002c0033 a0002c0034 a0002c0048 a0002c0054 a0002c0058 a0002c0059 a0002c0060 a0002c0061 a0002c0073 a0002c0074 a0002c0075 a0002c0076 a0002c0077 a0002c0078 a0002c0079 a0002c0080 a0002c0081 a0002c0082 a0002c0108 a0002c0121 a0002c0124 a0002c0125 a0002c0127 a0002c0128 a0002c0129 a0002c0149 a0002c0150 a0002c0151 a0002c0152 a0003c0038 a0003c0051 a0003c0086 a0003c0136 a0004c0040 a0004c0044 a0004c0139 a0005c0039 a0005c0087 a0005c0088 a0005c0137 a0006c0065 a0006c0093 a0006c0099 a0006c0113 a0006c0134 a0007c0053 a0007c0147 a0007c0148 a0008c0049 a0009c0029 a0010c0097 a0010c0098 a0012c0084 a0012c0130 a0013c0056 a0013c0057 a0014c0107 a0016c0146 a0017c0126 a0018c0083 a0019c0109 a0020c0103 a0022c0091 a0023c0089 a0024c0094 a0025c0055	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(225): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0001t0043 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0020 a0001c0002t0026 a0001c0002t0049 a0001c0003t0001 a0001c0003t0003 a0001c0003t0007 a0001c0003t0008 a0001c0003t0020 a0001c0003t0021 a0001c0003t0026 a0001c0003t0051 a0001c0003t0063 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0013 a0001c0004t0039 a0001c0004t0048 a0001c0005t0001 a0001c0005t0003 a0001c0005t0018 a0001c0005t0031 a0001c0006t0001 a0001c0006t0050 a0001c0007t0001 a0001c0008t0002 a0001c0008t0004 a0001c0008t0037 a0001c0009t0002 a0001c0009t0005 a0001c0009t0006 a0001c0009t0023 a0001c0009t0058 a0001c0009t0069 a0001c0010t0001 a0001c0010t0008 a0001c0011t0001 a0001c0011t0002 a0001c0011t0003 a0001c0011t0054 a0001c0012t0001 a0001c0012t0003 a0001c0012t0018 a0001c0012t0074 a0001c0013t0001 a0001c0014t0002 a0001c0014t0066 a0001c0015t0001 a0001c0015t0008 a0001c0015t0060 a0001c0016t0002 a0001c0016t0004 a0001c0016t0012 a0001c0016t0014 a0001c0018t0008 a0001c0018t0024 a0001c0018t0025 a0001c0018t0028 a0001c0019t0001 a0001c0020t0008 a0001c0020t0015 a0001c0020t0016 a0001c0021t0002 a0001c0021t0005 a0001c0021t0006 a0001c0023t0001 a0001c0023t0007 a0001c0026t0007 a0001c0026t0008 a0001c0035t0001 a0001c0035t0061 a0001c0036t0002 a0001c0036t0004 a0001c0037t0005 a0001c0037t0008 a0001c0041t0004 a0001c0041t0007 a0001c0042t0038 a0001c0043t0002 a0001c0043t0012 a0001c0046t0001 a0001c0047t0009 a0001c0050t0002 a0001c0050t0006 a0001c0052t0032 a0001c0052t0052 a0001c0062t0002 a0001c0066t0022 a0001c0067t0001 a0001c0068t0004 a0001c0069t0001 a0001c0070t0001 a0001c0071t0002 a0001c0085t0001 a0001c0092t0009 a0001c0096t0033 a0001c0100t0072 a0001c0101t0001 a0001c0104t0002 a0001c0105t0015 a0001c0106t0042 a0001c0110t0046 a0001c0111t0047 a0001c0112t0017 a0001c0114t0017 a0001c0115t0005 a0001c0116t0004 a0001c0117t0005 a0001c0118t0008 a0001c0119t0001 a0001c0120t0057 a0001c0122t0001 a0001c0123t0001 a0001c0131t0005 a0001c0132t0020 a0001c0133t0001 a0001c0135t0003 a0001c0140t0005 a0001c0141t0007 a0001c0143t0001 a0001c0145t0015 a0001c0153t0002 a0001c0154t0009 a0001c0155t0003 a0001c0156t0002 a0001c0157t0006 a0002c0017t0002 a0002c0017t0006 a0002c0022t0001 a0002c0022t0003 a0002c0024t0001 a0002c0024t0053 a0002c0025t0013 a0002c0025t0024 a0002c0025t0059 a0002c0027t0005 a0002c0027t0006 a0002c0028t0001 a0002c0030t0002 a0002c0030t0004 a0002c0031t0001 a0002c0032t0004 a0002c0032t0005 a0002c0033t0001 a0002c0033t0002 a0002c0034t0004 a0002c0034t0040 a0002c0048t0002 a0002c0048t0067 a0002c0054t0002 a0002c0058t0003 a0002c0059t0002 a0002c0060t0012 a0002c0061t0025 a0002c0073t0001 a0002c0074t0002 a0002c0075t0005 a0002c0076t0036 a0002c0077t0001 a0002c0078t0002 a0002c0079t0056 a0002c0080t0022 a0002c0081t0003 a0002c0082t0001 a0002c0108t0004 a0002c0121t0013 a0002c0124t0013 a0002c0125t0064 a0002c0127t0001 a0002c0128t0001 a0002c0129t0001 a0002c0149t0055 a0002c0150t0001 a0002c0151t0001 a0002c0152t0002 a0003c0038t0018 a0003c0038t0019 a0003c0051t0005 a0003c0051t0006 a0003c0086t0007 a0003c0136t0008 a0004c0040t0009 a0004c0040t0065 a0004c0044t0002 a0004c0044t0004 a0004c0139t0009 a0005c0039t0001 a0005c0039t0030 a0005c0087t0002 a0005c0088t0003 a0005c0137t0021 a0006c0065t0017 a0006c0093t0002 a0006c0099t0002 a0006c0113t0070 a0006c0134t0005 a0007c0053t0001 a0007c0147t0002 a0007c0148t0002 a0008c0049t0006 a0009c0029t0007 a0009c0029t0041 a0010c0097t0014 a0010c0098t0003 a0012c0084t0003 a0012c0130t0073 a0013c0056t0002 a0013c0057t0001 a0014c0107t0004 a0016c0146t0006 a0017c0126t0007 a0018c0083t0002 a0019c0109t0044 a0020c0103t0002 a0022c0091t0003 a0023c0089t0034 a0024c0094t0016 a0025c0055t0045	a0001c0001t0002g0030 a0001c0001t0002g0053 a0001c0001t0002g0066 others(334): Show a0001c0001t0002g0030 a0001c0001t0002g0053 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0224 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0239 a0001c0001t0002g0271 a0001c0001t0004g0022 a0001c0001t0004g0138 a0001c0001t0004g0141 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0165 a0001c0001t0004g0168 a0001c0001t0004g0354 a0001c0001t0006g0098 a0001c0001t0006g0115 a0001c0001t0012g0207 a0001c0001t0014g0361 a0001c0001t0019g0278 a0001c0001t0019g0320 a0001c0001t0043g0145 a0001c0002t0001g0037 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0198 a0001c0002t0001g0211 a0001c0002t0001g0259 a0001c0002t0001g0267 a0001c0002t0001g0270 a0001c0002t0001g0274 a0001c0002t0001g0327 a0001c0002t0001g0341 a0001c0002t0002g0002 a0001c0002t0002g0269 a0001c0002t0003g0151 a0001c0002t0003g0166 a0001c0002t0003g0348 a0001c0002t0020g0206 a0001c0002t0026g0192 a0001c0002t0049g0021 a0001c0003t0001g0026 a0001c0003t0001g0033 a0001c0003t0001g0057 a0001c0003t0001g0059 a0001c0003t0001g0081 a0001c0003t0001g0183 a0001c0003t0001g0220 a0001c0003t0001g0306 a0001c0003t0003g0161 a0001c0003t0003g0362 a0001c0003t0007g0102 a0001c0003t0008g0288 a0001c0003t0020g0083 a0001c0003t0021g0318 a0001c0003t0026g0190 a0001c0003t0051g0118 a0001c0003t0063g0089 a0001c0004t0002g0071 a0001c0004t0002g0072 a0001c0004t0002g0230 a0001c0004t0002g0240 a0001c0004t0002g0241 a0001c0004t0002g0251 a0001c0004t0002g0252 a0001c0004t0002g0324 a0001c0004t0002g0340 a0001c0004t0004g0140 a0001c0004t0005g0299 a0001c0004t0013g0018 a0001c0004t0039g0076 a0001c0004t0048g0104 a0001c0005t0001g0051 a0001c0005t0001g0078 a0001c0005t0001g0185 a0001c0005t0001g0238 a0001c0005t0001g0325 a0001c0005t0003g0174 a0001c0005t0003g0359 a0001c0005t0018g0337 a0001c0005t0031g0351 a0001c0006t0001g0008 a0001c0006t0001g0073 a0001c0006t0001g0193 a0001c0006t0001g0194 a0001c0006t0001g0219 a0001c0006t0001g0260 a0001c0006t0001g0263 a0001c0006t0001g0264 a0001c0006t0050g0094 a0001c0007t0001g0218 a0001c0007t0001g0222 a0001c0007t0001g0268 a0001c0007t0001g0323 a0001c0008t0002g0027 a0001c0008t0002g0067 a0001c0008t0002g0152 a0001c0008t0002g0156 a0001c0008t0002g0210 a0001c0008t0002g0221 a0001c0008t0002g0277 a0001c0008t0004g0136 a0001c0008t0037g0154 a0001c0009t0002g0055 a0001c0009t0002g0080 a0001c0009t0005g0287 a0001c0009t0005g0326 a0001c0009t0006g0120 a0001c0009t0023g0046 a0001c0009t0023g0047 a0001c0009t0058g0200 a0001c0009t0069g0302 a0001c0010t0001g0044 a0001c0010t0001g0065 a0001c0010t0001g0182 a0001c0010t0001g0243 a0001c0010t0001g0272 a0001c0010t0001g0275 a0001c0010t0008g0307 a0001c0011t0001g0015 a0001c0011t0001g0249 a0001c0011t0001g0253 a0001c0011t0002g0082 a0001c0011t0003g0144 a0001c0011t0054g0228 a0001c0012t0001g0031 a0001c0012t0001g0236 a0001c0012t0003g0164 a0001c0012t0003g0347 a0001c0012t0018g0311 a0001c0012t0074g0191 a0001c0013t0001g0017 a0001c0013t0001g0029 a0001c0013t0001g0225 a0001c0013t0001g0247 a0001c0013t0001g0248 a0001c0014t0002g0242 a0001c0014t0002g0250 a0001c0014t0002g0254 a0001c0014t0002g0256 a0001c0014t0066g0119 a0001c0015t0001g0262 a0001c0015t0001g0281 a0001c0015t0001g0322 a0001c0015t0008g0314 a0001c0015t0060g0109 a0001c0016t0002g0184 a0001c0016t0002g0261 a0001c0016t0004g0176 a0001c0016t0012g0132 a0001c0016t0014g0343 a0001c0018t0008g0290 a0001c0018t0008g0295 a0001c0018t0024g0086 a0001c0018t0025g0296 a0001c0018t0028g0146 a0001c0019t0001g0213 a0001c0019t0001g0214 a0001c0019t0001g0215 a0001c0019t0001g0217 a0001c0020t0008g0291 a0001c0020t0008g0315 a0001c0020t0015g0204 a0001c0020t0016g0092 a0001c0021t0002g0245 a0001c0021t0002g0321 a0001c0021t0005g0312 a0001c0021t0006g0128 a0001c0023t0001g0034 a0001c0023t0007g0090 a0001c0026t0007g0129 a0001c0026t0008g0293 a0001c0035t0001g0045 a0001c0035t0061g0075 a0001c0036t0002g0229 a0001c0036t0004g0177 a0001c0037t0005g0308 a0001c0037t0008g0309 a0001c0041t0004g0172 a0001c0041t0007g0097 a0001c0042t0038g0155 a0001c0043t0002g0153 a0001c0043t0012g0279 a0001c0046t0001g0332 a0001c0046t0001g0333 a0001c0047t0009g0331 a0001c0047t0009g0334 a0001c0050t0002g0255 a0001c0050t0006g0127 a0001c0052t0032g0149 a0001c0052t0052g0336 a0001c0062t0002g0208 a0001c0066t0022g0227 a0001c0067t0001g0063 a0001c0068t0004g0167 a0001c0069t0001g0012 a0001c0070t0001g0130 a0001c0071t0002g0131 a0001c0085t0001g0231 a0001c0092t0009g0186 a0001c0096t0033g0175 a0001c0100t0072g0199 a0001c0101t0001g0040 a0001c0104t0002g0157 a0001c0105t0015g0345 a0001c0106t0042g0330 a0001c0110t0046g0107 a0001c0111t0047g0123 a0001c0112t0017g0124 a0001c0114t0017g0122 a0001c0115t0005g0286 a0001c0116t0004g0171 a0001c0117t0005g0305 a0001c0118t0008g0294 a0001c0119t0001g0234 a0001c0120t0057g0134 a0001c0122t0001g0216 a0001c0123t0001g0335 a0001c0131t0005g0301 a0001c0132t0020g0084 a0001c0133t0001g0060 a0001c0135t0003g0163 a0001c0140t0005g0297 a0001c0141t0007g0099 a0001c0143t0001g0079 a0001c0145t0015g0150 a0001c0153t0002g0014 a0001c0154t0009g0265 a0001c0155t0003g0179 a0001c0156t0002g0007 a0001c0157t0006g0093 a0002c0017t0002g0041 a0002c0017t0002g0042 a0002c0017t0002g0056 a0002c0017t0002g0237 a0002c0017t0006g0114 a0002c0022t0001g0235 a0002c0022t0001g0258 a0002c0022t0003g0170 a0002c0024t0001g0054 a0002c0024t0001g0117 a0002c0024t0053g0178 a0002c0025t0013g0116 a0002c0025t0024g0106 a0002c0025t0059g0105 a0002c0027t0005g0298 a0002c0027t0006g0100 a0002c0028t0001g0223 a0002c0028t0001g0285 a0002c0030t0002g0077 a0002c0030t0004g0169 a0002c0031t0001g0188 a0002c0031t0001g0273 a0002c0032t0004g0173 a0002c0032t0005g0313 a0002c0033t0001g0257 a0002c0033t0002g0006 a0002c0034t0004g0148 a0002c0034t0040g0074 a0002c0048t0002g0061 a0002c0048t0067g0095 a0002c0054t0002g0020 a0002c0054t0002g0023 a0002c0058t0003g0137 a0002c0059t0002g0280 a0002c0060t0012g0284 a0002c0061t0025g0292 a0002c0073t0001g0062 a0002c0074t0002g0052 a0002c0075t0005g0303 a0002c0076t0036g0147 a0002c0077t0001g0032 a0002c0078t0002g0036 a0002c0079t0056g0043 a0002c0080t0022g0035 a0002c0081t0003g0133 a0002c0082t0001g0282 a0002c0108t0004g0142 a0002c0121t0013g0110 a0002c0124t0013g0088 a0002c0125t0064g0310 a0002c0127t0001g0013 a0002c0128t0001g0028 a0002c0129t0001g0058 a0002c0149t0055g0009 a0002c0150t0001g0005 a0002c0151t0001g0011 a0002c0152t0002g0019 a0003c0038t0018g0085 a0003c0038t0019g0266 a0003c0051t0005g0289 a0003c0051t0006g0319 a0003c0086t0007g0317 a0003c0136t0008g0300 a0004c0040t0009g0038 a0004c0040t0065g0181 a0004c0044t0002g0328 a0004c0044t0004g0349 a0004c0139t0009g0196 a0005c0039t0001g0070 a0005c0039t0030g0139 a0005c0087t0002g0276 a0005c0088t0003g0024 a0005c0137t0021g0112 a0006c0065t0017g0125 a0006c0093t0002g0197 a0006c0099t0002g0087 a0006c0113t0070g0304 a0006c0134t0005g0316 a0007c0053t0001g0010 a0007c0053t0001g0016 a0007c0147t0002g0004 a0007c0148t0002g0003 a0008c0049t0006g0001 a0009c0029t0007g0202 a0009c0029t0041g0201 a0010c0097t0014g0205 a0010c0098t0003g0203 a0012c0084t0003g0356 a0012c0130t0073g0342 a0013c0056t0002g0246 a0013c0057t0001g0283 a0014c0107t0004g0135 a0016c0146t0006g0111 a0017c0126t0007g0113 a0018c0083t0002g0244 a0019c0109t0044g0121 a0020c0103t0002g0039 a0022c0091t0003g0358 a0023c0089t0034g0350 a0024c0094t0016g0103 a0025c0055t0045g0108	338	363	0.9311	-147	c.352 others(17): Show c.3520+404_3520+550del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7362023	GAGAAGGA others(140): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGGAGAAGAAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01891.hp1 HG02040.hp2 others(15): Show HG00408.hp1 HG01891.hp1 HG02040.hp2 HG02129.hp2 HG02165.hp2 HG02280.hp1 HG02451.hp2 HG02717.hp1 HG02809.hp1 HG02896.hp2 HG03209.hp1 NA18954.hp2 NA18967.hp1 NA18990.hp2 NA19011.hp1 NA19066.hp2 NA19067.hp1 NA21309.hp1	a0002 a0006 a0008 others(1): Show a0002 a0006 a0008 a0026	a0002c0004 a0002c0006 a0006c0008 others(2): Show a0002c0004 a0002c0006 a0006c0008 a0008c0010 a0026c0029	a0002c0004t0021 a0002c0006t0007 a0006c0008t0002 others(4): Show a0002c0004t0021 a0002c0006t0007 a0006c0008t0002 a0006c0008t0032 a0008c0010t0001 a0008c0010t0033 a0026c0029t0020	a0002c0004t0021g0277 a0002c0006t0007g0270 a0002c0006t0007g0271 others(15): Show a0002c0004t0021g0277 a0002c0006t0007g0270 a0002c0006t0007g0271 a0002c0006t0007g0273 a0002c0006t0007g0274 a0002c0006t0007g0275 a0002c0006t0007g0276 a0006c0008t0002g0281 a0006c0008t0002g0282 a0006c0008t0002g0283 a0006c0008t0002g0287 a0006c0008t0032g0284 a0008c0010t0001g0285 a0008c0010t0001g0288 a0008c0010t0001g0289 a0008c0010t0001g0290 a0008c0010t0033g0286 a0026c0029t0020g0272	18	298	0.0604	-147	c.-11 others(17): Show c.-110-746_-110-600del	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATP9B_chr18_79064394_79383283	79245950	CGGAGGGC others(140): Show CGGAGGGCACCACCCTACTGACTGCGGAGGGCACCGCCCTACTGTCTGTG CGGAGGGCACCGCCCTACTGACTGAGGAGGGCACCGCCCTACTGACTGTG CGGAGGGCACCACCCTACTGACTGAGGAGGGCACCACCCTGACTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(75): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01109.hp2 HG01168.hp1 HG01346.hp2 HG01361.hp2 HG01517.hp1 HG01975.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02615.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG02897.hp2 HG03239.hp2 HG03486.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18970.hp1 NA18971.hp2 NA18977.hp1 NA18980.hp2 NA18990.hp1 NA18998.hp2 NA19001.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0009 a0011 a0017	a0001c0003 a0001c0004 a0002c0002 others(6): Show a0001c0003 a0001c0004 a0002c0002 a0002c0005 a0002c0033 a0007c0031 a0009c0034 a0011c0035 a0017c0019	a0001c0003t0002 a0001c0004t0002 a0002c0002t0002 others(9): Show a0001c0003t0002 a0001c0004t0002 a0002c0002t0002 a0002c0002t0003 a0002c0005t0001 a0002c0005t0002 a0002c0005t0004 a0002c0033t0002 a0007c0031t0002 a0009c0034t0002 a0011c0035t0002 a0017c0019t0002	a0001c0003t0002g0135 a0001c0003t0002g0149 a0001c0004t0002g0109 others(75): Show a0001c0003t0002g0135 a0001c0003t0002g0149 a0001c0004t0002g0109 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0196 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0210 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0003g0204 a0002c0005t0001g0179 a0002c0005t0001g0190 a0002c0005t0001g0194 a0002c0005t0001g0197 a0002c0005t0001g0243 a0002c0005t0002g0207 a0002c0005t0002g0208 a0002c0005t0002g0209 a0002c0005t0002g0211 a0002c0005t0004g0184 a0002c0033t0002g0214 a0007c0031t0002g0251 a0009c0034t0002g0186 a0011c0035t0002g0201 a0017c0019t0002g0076	78	298	0.2617	-147	c.110 others(19): Show c.1108-7173_1108-7027del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BCL11A_chr2_60452194_60558654	60467878	GGTGGTGG others(140): Show GGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGGTGGTGG TAGTGATGGTGGTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTA GTGATGGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp2 HG02970.hp2 others(4): Show HG00280.hp2 HG01081.hp2 HG02970.hp2 HG03139.hp1 HG03453.hp1 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 others(4): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0025 a0001c0001t0030 a0001c0001t0040	a0001c0001t0007g0095 a0001c0001t0010g0015 a0001c0001t0011g0188 others(4): Show a0001c0001t0007g0095 a0001c0001t0010g0015 a0001c0001t0011g0188 a0001c0001t0015g0193 a0001c0001t0025g0003 a0001c0001t0030g0026 a0001c0001t0040g0117	7	262	0.0267	-147	c.487 others(15): Show c.487+707_487+853del	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
C2CD6_chr2_201482421_201624178	201563322	CCCCCCCA others(140): Show CCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCTCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0029 a0029	a0029c0020 a0029c0020	a0029c0020t0001 a0029c0020t0001	a0029c0020t0001g0015 a0029c0020t0001g0015	1	270	0.0037	-147	c.977 others(17): Show c.977+2260_977+2406del	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	9/15			chr2	TogoVar
C7orf50_chr7_992006_1143247	1031508	GGCAGAGA others(140): Show GGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGC AGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGAG TGGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0165 a0001c0001t0025g0165	1	326	0.0031	-147	c.130 others(19): Show c.130-21512_130-21366del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1067707	ACCCAGAG others(140): Show ACCCAGAGGTGAGGGTTTGGGGCACAGTCTTCACACAGGCTGGAGTGCAT CCCAGAGGTGAGGGTTTGGGGCACAGTCTTCACACAGGCTGGAGTGCACC CCAGAGGTGAGGGTTTGGGGCACAGTCTTCACACAGGCTGGAGTGCAC	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02083.hp1 HG02132.hp1 others(24): Show HG01934.hp1 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02300.hp2 HG03927.hp2 NA18612.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18962.hp1 NA18963.hp1 NA18971.hp1 NA18972.hp1 NA18984.hp1 NA18986.hp2 NA18998.hp2 NA18999.hp1 NA19005.hp2 NA19007.hp2 NA19055.hp1 NA19056.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0001t0028	a0001c0001t0001g0029 a0001c0001t0004g0176 a0001c0001t0004g0177 others(24): Show a0001c0001t0001g0029 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0021g0086 a0001c0001t0028g0201	27	326	0.0828	-147	c.130 others(19): Show c.130-57711_130-57565del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CAB39L_chr13_49303650_49449064	49318484	GGGAAAGG others(140): Show GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02965.hp1 HG03098.hp2 HG02451.hp2 HG02965.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0277 a0001c0001t0006g0282 a0001c0001t0006g0283 a0001c0001t0006g0277 a0001c0001t0006g0282 a0001c0001t0006g0283	3	324	0.0093	-147	c.835 others(17): Show c.835-7638_835-7492del	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CANX_chr5_179693967_179736641	179734710	CAGCCTCA others(140): Show CAGCCTCAACCTTCCTGGCTCAAGACTCCTCAATCCTCCCGCCTCAGCCT CCTCAGTCCTCCCGCCTCAGCCTCCTGAGTAACTGGGATCAACCACAGCT GCACATCACCATGCCTGGCTAAATAAAAAAAGTTTTTTTTCTGTTAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	380	0.0026	-147	c.60 others(11): Show c.6067_*6213del	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding		3070		chr5	TogoVar
CAPN12_chr19_38725192_38749474	38743451	CTCCCTCA others(140): Show CTCCCTCAGACCCAGGAGTCCAGGTCCCGAGCCCCTCCTCCCTCAGACCC AAGAATCCAGGTCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTC CAGCCCCTCCTCCCTCAGACCCCGGAGTCCAGGTCCCCAGCCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01071.hp1 others(22): Show HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01106.hp2 HG01192.hp1 HG01243.hp1 HG01891.hp1 HG02257.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp2 HG02602.hp1 HG02647.hp1 HG02723.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03927.hp2 HG03942.hp2 NA18522.hp2 NA19240.hp2 NA20805.hp2	a0001 a0002 a0023 a0001 a0002 a0023	a0001c0001 a0002c0004 a0023c0028 a0001c0001 a0002c0004 a0023c0028	a0001c0001t0001 a0001c0001t0014 a0002c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0014 a0002c0004t0001 a0002c0004t0018 a0023c0028t0001	a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 others(22): Show a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0014g0045 a0002c0004t0001g0048 a0002c0004t0001g0053 a0002c0004t0001g0054 a0002c0004t0001g0055 a0002c0004t0001g0056 a0002c0004t0001g0057 a0002c0004t0001g0058 a0002c0004t0001g0059 a0002c0004t0001g0060 a0002c0004t0001g0061 a0002c0004t0001g0063 a0002c0004t0001g0066 a0002c0004t0001g0067 a0002c0004t0001g0068 a0002c0004t0001g0069 a0002c0004t0001g0070 a0002c0004t0018g0065 a0023c0028t0001g0062	25	342	0.0731	-147	c.237 others(15): Show c.237+331_238-350del	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	1/20			chr19	TogoVar
CARS2_chr13_110636417_110711116	110677424	ATCACCCC others(140): Show ATCACCCCCACCATGGAAACACAATCACCCCACCACGGACACGCAGACAG TCACCCCACCACAGAAACTCAGTCACCCCCACCAGGGAGACCCAGACAAT CACACCACAGAAACTCAGACAGCCACCCCGCCACGGAAACCCAGACAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG00738.hp1 others(70): Show HG00609.hp1 HG00621.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02071.hp2 HG02148.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02602.hp1 HG02647.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03453.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG04204.hp1 NA18522.hp1 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18969.hp1 NA18975.hp2 NA18977.hp1 NA18984.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp1 NA19074.hp2 NA19085.hp1 NA19091.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0011 a0016	a0001c0002 a0001c0007 a0001c0019 others(4): Show a0001c0002 a0001c0007 a0001c0019 a0003c0011 a0007c0014 a0011c0017 a0016c0021	a0001c0002t0001 a0001c0002t0002 a0001c0007t0001 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0007t0001 a0001c0019t0001 a0003c0011t0002 a0007c0014t0002 a0011c0017t0002 a0016c0021t0001	a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0015 others(62): Show a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0072 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0224 a0001c0002t0001g0233 a0001c0002t0002g0017 a0001c0002t0002g0020 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0248 a0001c0002t0002g0254 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0007t0001g0192 a0001c0019t0001g0208 a0003c0011t0002g0243 a0003c0011t0002g0255 a0003c0011t0002g0256 a0007c0014t0002g0252 a0007c0014t0002g0253 a0011c0017t0002g0267 a0016c0021t0001g0206	73	372	0.1962	-147	c.656 others(15): Show c.656-468_656-322del	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CCDC77_chr12_396644_447642	419412	TTCCATTA others(140): Show TTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA ATACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02976.hp2 NA20905.hp1 HG01433.hp1 HG02976.hp2 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0010 a0005c0005t0005 a0001c0001t0010 a0005c0005t0005	a0001c0001t0010g0209 a0001c0001t0010g0281 a0005c0005t0005g0411 a0001c0001t0010g0209 a0001c0001t0010g0281 a0005c0005t0005g0411	3	432	0.0069	-147	c.413 others(15): Show c.413+827_413+973del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	419486	TTCCATTA others(140): Show TTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA CACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03486.hp2 HG01943.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0325 a0002c0002t0001g0216 a0001c0001t0004g0325 a0002c0002t0001g0216	2	432	0.0046	-147	c.413 others(16): Show c.413+864_413+1010del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	420572	TACACATA others(140): Show TACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTC CATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02970.hp1 HG01884.hp1 HG02970.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0004 a0005c0005t0005 a0001c0001t0004 a0005c0005t0005	a0001c0001t0004g0401 a0005c0005t0005g0418 a0001c0001t0004g0401 a0005c0005t0005g0418	2	432	0.0046	-147	c.413 others(17): Show c.413+1951_413+2097del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421900	TACACACA others(140): Show TACACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGT TCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0317 a0004c0004t0001g0317	1	432	0.0023	-147	c.413 others(17): Show c.413+3281_413+3427del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDK12_chr17_39456486_39539544	39499063	CTTTCTTT others(140): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	260	0.0039	-147	c.242 others(19): Show c.2420-2183_2420-2037del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CLN8_chr8_1758789_1791570	1763492	CCCCGCCG others(140): Show CCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGC CCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCG CCCCCCGCCGCGCCCCGCCCCCCGCGCCGCGCCCCGCCCCCCGCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	413	0.0024	-147	c.-51 others(9): Show c.-516_-370del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		296		chr8	TogoVar
CNIH4_chr1_224351879_224384452	224378516	ACTGAGGC others(140): Show ACTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG CTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGC TGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0040 a0001c0001t0030g0040	1	324	0.0031	-147	c.29 others(11): Show c.2947_*3093del	CNIH4	ENSG00000143771.12	transcript	ENST00000465271.6	protein_coding	5/5	2947	INFO_REALIGN_3_PRIME	chr1	TogoVar
CNOT6_chr5_180489379_180583358	180534757	CCTGGGGT others(140): Show CCTGGGGTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCC CTGGGGTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCCC TGGGGTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCG	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0006 a0001c0001t0018g0006	1	334	0.0030	-147	c.112 others(17): Show c.112+5516_112+5662del	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
COLEC11_chr2_3590112_3649644	3590652	GGCGGGGG others(140): Show GGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCA GGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0183 a0002c0005t0002g0183	1	378	0.0027	-147	c.-45 others(11): Show c.-4542_-4396del	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		4459		chr2	TogoVar
DGKB_chr7_14140049_14907751	14211812	TTTTACTC others(140): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTT TGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01255.hp1 HG06807.hp1 HG00621.hp1 HG01255.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0010 a0001c0001t0001 a0001c0002t0001 a0001c0003t0010	a0001c0001t0001g0024 a0001c0002t0001g0070 a0001c0003t0010g0089 a0001c0001t0001g0024 a0001c0002t0001g0070 a0001c0003t0010g0089	3	148	0.0203	-147	c.212 others(21): Show c.2123-33808_2123-33662del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212090	TTTTACTC others(140): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTT TTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	148	0.0068	-147	c.212 others(21): Show c.2123-34086_2123-33940del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKH_chr13_42043648_42247896	42181816	CTGCTGGC others(140): Show CTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGC AGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGC TGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0270 a0002c0005t0001g0270	1	316	0.0032	-147	c.153 others(19): Show c.1538+3751_1538+3897del	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	13/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DIP2C_chr10_269201_694668	322239	CGCTGTTA others(140): Show CGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGC GCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCG CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0036	1	88	0.0114	-147	c.392 others(19): Show c.3924+4620_3924+4766del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322451	AGTCGGGG others(140): Show AGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCA GTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAG TCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCC	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0083 a0001c0015t0002g0083	1	88	0.0114	-147	c.392 others(19): Show c.3924+4408_3924+4554del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323123	CTGTTAGA others(140): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGAGAGACCAGTGT TGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGCGTT GTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	88	0.0114	-147	c.392 others(19): Show c.3924+3736_3924+3882del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DLC1_chr8_13078361_13519851	13453403	TGTATATA others(140): Show TGTATATATATATATATATATGTGTATATATATATGTATATATATACATA TATATATGTATATATATACATATATATGTATATATATACATATATATATG TATATATATATACATATATATATATGTATATATATACATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0001 a0002c0043t0001	a0002c0043t0001g0011 a0002c0043t0001g0011	1	212	0.0047	-147	c.102 others(21): Show c.1023+45499_1023+45645del	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1246853	GAAGACCT others(140): Show GAAGACCTTTGAGATCATTGTGGGAGTAATGGCCCATGTTGGTGTCCAGC AAGACCTTTGAGATCAGTGTGGGAGTGATGGTCCATGTCGGTGGCCAGGA ACACCTTTGAGATTAGTGTGGAAGTGATGGTCCATGTTGGTGGCTGGC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03516.hp2 NA20300.hp2 HG02895.hp1 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0003t0001 a0001c0002t0006 a0001c0003t0001	a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0001g0027	3	40	0.0750	-147	c.74- others(17): Show c.74-11981_74-11835del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1351800	ACGTGCGC others(140): Show ACGTGCGCGTCCTGCGTGTGGCGTGGAAAGGCCATGCGGGTCCTGAGTGT GCGTGGAAAGGCCGTGCAGGTCCTGACTGTGTTTGGAAAGGCCGTGCGGG TCCTGACTGTGGAAAGGCCGTGCGCGTCCTGACTGTGTGTGGAAAGGC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02647.hp2 HG02258.hp1 HG02647.hp1 HG02647.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0017 a0002c0001t0002 a0002c0001t0005 a0001c0003t0017 a0002c0001t0002 a0002c0001t0005	a0001c0003t0017g0004 a0002c0001t0002g0013 a0002c0001t0005g0028 a0001c0003t0017g0004 a0002c0001t0002g0013 a0002c0001t0005g0028	3	40	0.0750	-147	c.106 others(19): Show c.106+92924_106+93070del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOK1_chr2_74549720_74562551	74561091	AAGGAGAA others(140): Show AAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGA GAAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGG AGGAGGAGAAGGAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	-147	c.39 others(11): Show c.3978_*4124del	DOK1	ENSG00000115325.14	transcript	ENST00000233668.10	protein_coding		3541		chr2	TogoVar
DPP6_chr7_154047398_154899285	154060463	TCTGGCTT others(140): Show TCTGGCTTAGGACCTCCATCGTTGATCCTAAGATCCTTAGGACCCACCTG GAGGACTGCGGGTGTTAGGTGTCCAAGTAGAAAGTTCAAATCTTCCGACG GCAGGTACCTTACGTGGGATTACTGAGAGCCAGTCCCTCTTCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03453.hp2 NA19043.hp2 HG01978.hp1 HG03453.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0018 a0001c0027 a0002c0026 a0001c0018 a0001c0027 a0002c0026	a0001c0018t0009 a0001c0027t0027 a0002c0026t0026 a0001c0018t0009 a0001c0027t0027 a0002c0026t0026	a0001c0018t0009g0023 a0001c0027t0027g0007 a0002c0026t0026g0006 a0001c0018t0009g0023 a0001c0027t0027g0007 a0002c0026t0026g0006	3	38	0.0790	-147	c.243 others(17): Show c.243+7407_243+7553del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154676325	GGGCTGCG others(140): Show GGGCTGCGGCCATGGGGCGTGCTGTCTGGAGGTCCAGCTGGCCTTCCCCA TGTGACCTGCTACACAGGTGTTCCGGCTACAGCCTTACAGCATGCTGTCT GGAGGTCCAGCTGCCCTTCCCCATGTGACCTGCTACACAGGTGTTCCA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02083.hp2 HG01978.hp1 HG02083.hp2	a0001 a0001	a0001c0011 a0001c0027 a0001c0011 a0001c0027	a0001c0011t0003 a0001c0027t0027 a0001c0011t0003 a0001c0027t0027	a0001c0011t0003g0012 a0001c0027t0027g0007 a0001c0011t0003g0012 a0001c0027t0027g0007	2	38	0.0526	-147	c.762 others(17): Show c.762+6901_762+7047del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
EBF3_chr10_129830233_129969274	129920028	CAGTATCT others(140): Show CAGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCG AGTATCTCCAGGAGGGCCACAAACCCGCCCCACTGTGCGGTCTAGGGCCA GTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCAGTCTAGGGCG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01261.hp1 HG03225.hp1 others(1): Show HG01175.hp2 HG01261.hp1 HG03225.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0275 a0001c0001t0003g0149 a0001c0001t0004g0098 others(1): Show a0001c0001t0001g0275 a0001c0001t0003g0149 a0001c0001t0004g0098 a0001c0001t0004g0273	4	338	0.0118	-147	c.554 others(19): Show c.554+37083_554+37229del	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129920077	GAGTATCT others(140): Show GAGTATCTCCAGGAGGGCCACAAACCCGCCCCACTGTGCGGTCTAGGGCC AGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCAGTCTAGGGCGA GTATCTCCAGGAGGGCCACAAACCCGCCCCACTGTGCGGTCTAGGGCC	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0163 a0001c0001t0004g0163	1	338	0.0030	-147	c.554 others(19): Show c.554+37034_554+37180del	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EMILIN2_chr18_2842006_2921003	2876495	GGTGGCTC others(140): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGA TCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00673.hp1 others(42): Show HG00558.hp1 HG00609.hp1 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01516.hp1 HG01517.hp1 HG02074.hp1 HG02080.hp1 HG02165.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02970.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 NA18942.hp2 NA18952.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0013 a0001c0014 a0001c0016 a0002c0005 a0002c0007 a0002c0020 a0003c0010 a0004c0039 a0007c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0033 a0001c0001t0041 a0001c0001t0042 a0001c0001t0076 a0001c0001t0077 a0001c0002t0001 a0001c0002t0072 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0013t0010 a0001c0014t0002 a0001c0014t0004 a0001c0016t0019 a0002c0005t0031 a0002c0007t0004 a0002c0020t0004 a0003c0010t0027 a0004c0039t0063 a0007c0022t0002	a0001c0001t0001g0405 a0001c0001t0001g0446 a0001c0001t0002g0172 others(42): Show a0001c0001t0001g0405 a0001c0001t0001g0446 a0001c0001t0002g0172 a0001c0001t0002g0362 a0001c0001t0003g0190 a0001c0001t0003g0273 a0001c0001t0005g0166 a0001c0001t0005g0393 a0001c0001t0005g0394 a0001c0001t0005g0439 a0001c0001t0005g0445 a0001c0001t0005g0447 a0001c0001t0010g0045 a0001c0001t0011g0395 a0001c0001t0013g0315 a0001c0001t0014g0404 a0001c0001t0016g0344 a0001c0001t0017g0389 a0001c0001t0020g0026 a0001c0001t0020g0027 a0001c0001t0033g0143 a0001c0001t0033g0144 a0001c0001t0041g0126 a0001c0001t0042g0229 a0001c0001t0076g0137 a0001c0001t0077g0319 a0001c0002t0001g0105 a0001c0002t0001g0195 a0001c0002t0001g0360 a0001c0002t0072g0013 a0001c0003t0002g0270 a0001c0003t0002g0284 a0001c0004t0001g0019 a0001c0004t0003g0020 a0001c0013t0010g0211 a0001c0014t0002g0043 a0001c0014t0004g0006 a0001c0016t0019g0259 a0002c0005t0031g0317 a0002c0007t0004g0016 a0002c0020t0004g0131 a0003c0010t0027g0031 a0004c0039t0063g0017 a0007c0022t0002g0197 a0007c0022t0002g0198	45	452	0.0996	-147	c.258 others(17): Show c.258-8466_258-8320del	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
ENOSF1_chr18_665318_717630	667334	AGATGGTG others(140): Show AGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTG ATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTGATGGAGAT GGTGATGGTGATGGTGATGGTGATGATGGAGATGGTGATGGTGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG02647.hp1 others(1): Show HG01891.hp1 HG02572.hp2 HG02647.hp1 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0002 a0001c0006t0004g0148 a0001c0006t0004g0235 others(1): Show a0001c0006t0004g0002 a0001c0006t0004g0148 a0001c0006t0004g0235 a0001c0006t0004g0237	4	418	0.0096	-147	c.68 others(11): Show c.6824_*6970del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2983		chr18	TogoVar
ENOSF1_chr18_665318_717630	667382	TGATGGTG others(140): Show TGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTGATGGAG ATGGTGATGGTGATGGTGATGGTGATGATGGAGATGGTGATGGTGATGGT GATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0002 a0001c0006t0004g0002	1	418	0.0024	-147	c.67 others(11): Show c.6776_*6922del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2935		chr18	TogoVar

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