Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
SLC25A19_chr17_75267992_75294433	75276482	TTCAGCCT others(300): Show TTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATACCCAGC TAATTTTTATATTTTTAGTAGAAACGGGGTTTCACCATGTTGATCAGGCT GGTCTAGAACTCCTGACCTCAGGTGATCCACTCGTCTCGGCCTCCCAAAA TGTTGGGATTACAGGAGTGAGCCACCACGTCCACGCCCAGCCTCTGGACA TATTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAG TGGCGCAATCTCAGCTCACTGCAAACTCCACCTCCCGGGTTCACACCATT CTCCTGCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG01070.hp1 others(18): Show HG00544.hp2 HG00597.hp1 HG01070.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG02015.hp2 HG02056.hp2 HG02129.hp2 HG02135.hp2 HG02698.hp1 HG03927.hp1 HG04204.hp2 HG04228.hp2 NA18982.hp2 NA18989.hp2 NA18990.hp1 NA19068.hp1 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0006t0002 a0001c0002t0002 a0001c0006t0002	a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0034 others(13): Show a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0034 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0106 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0006t0002g0085	21	344	0.0611	-307	c.774 others(15): Show c.774+564_774+870del	SLC25A19	ENSG00000125454.12	transcript	ENST00000416858.7	protein_coding	7/7			chr17	TogoVar
SLC66A2_chr18_79897420_79956653	79920884	ACGGGAAC others(300): Show ACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGA GGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAG GGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGG AGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAAC CGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTC AAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGA GGAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0261 a0001c0001t0028g0261	1	352	0.0028	-307	c.392 others(17): Show c.392-1791_392-1485del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SPAG16_chr2_213279464_214415501	213910480	TAAGAATT others(300): Show TAAGAATTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTAGTTTTAGTAGAGACA GGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCAC GCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp2 HG01256.hp2 others(33): Show HG00673.hp2 HG00735.hp2 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01891.hp2 HG02109.hp1 HG02293.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03831.hp1 HG03831.hp2 NA18522.hp1 NA18968.hp1 NA18977.hp1 NA18992.hp1 NA18993.hp1 NA19000.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp2 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0009 a0011	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0007c0011 a0009c0009 a0011c0008	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0005c0005t0001 a0007c0011t0001 a0009c0009t0001 a0011c0008t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(33): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0002g0067 a0002c0002t0002g0074 a0003c0003t0001g0026 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0038 a0003c0003t0001g0041 a0003c0003t0001g0043 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0050 a0003c0003t0001g0055 a0003c0003t0001g0060 a0003c0003t0001g0062 a0003c0003t0001g0080 a0003c0003t0002g0042 a0003c0003t0003g0019 a0005c0005t0001g0081 a0007c0011t0001g0086 a0009c0009t0001g0085 a0011c0008t0001g0084	36	86	0.4186	-307	c.121 others(21): Show c.1215-19467_1215-19161del	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46169820	CCCCTGCT others(300): Show CCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCCTGCTCTG TGAGCATCCTCTGTGGATGGGGAGGAGCCCCTGCTCTGTGAGCATCCTCT GTGGATGGGGAGGAGCCCCCTGCTCTGTGAACATCCTCTGTGGATGGGGA GGAGCCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCTGC TCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCTGCTCTGTGAGCATC CTCTGTGGATGGGGAGGAGCCTCCTGCTTTGTGAGCATCCTCTGTGGATG GGGAGGAG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19043.hp2 HG02451.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0042 a0002c0002t0003g0047 a0002c0002t0003g0042 a0002c0002t0003g0047	2	251	0.0080	-307	c.194 others(17): Show c.194-1469_194-1163del	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
SRFBP1_chr5_121956975_122033633	121959007	TAAAAACA others(300): Show TAAAAACAAGAGTATCGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01433.hp1 HG01928.hp1 others(24): Show HG01255.hp1 HG01433.hp1 HG01928.hp1 HG02132.hp1 HG02165.hp2 HG02280.hp2 HG02559.hp1 HG02886.hp2 HG03486.hp1 HG03540.hp1 HG03704.hp2 NA18941.hp1 NA18945.hp1 NA18957.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA18989.hp2 NA18993.hp2 NA18995.hp1 NA19074.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0003 a0002c0014 a0002c0015 others(2): Show a0002c0003 a0002c0014 a0002c0015 a0004c0006 a0006c0009	a0002c0003t0001 a0002c0003t0002 a0002c0014t0010 others(3): Show a0002c0003t0001 a0002c0003t0002 a0002c0014t0010 a0002c0015t0001 a0004c0006t0001 a0006c0009t0001	a0002c0003t0001g0197 a0002c0003t0002g0002 a0002c0003t0002g0027 others(21): Show a0002c0003t0001g0197 a0002c0003t0002g0002 a0002c0003t0002g0027 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0033 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0039 a0002c0014t0010g0048 a0002c0015t0001g0050 a0004c0006t0001g0044 a0004c0006t0001g0045 a0004c0006t0001g0046 a0004c0006t0001g0047 a0006c0009t0001g0017 a0006c0009t0001g0018 a0006c0009t0001g0049	27	228	0.1184	-307	c.-30 others(11): Show c.-3025_-2719del	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		2967		chr5	TogoVar
SYTL3_chr6_158645054_158769871	158704814	AGTGACAG others(300): Show AGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAGGGCA GGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAGGGC AGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAGGG CAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCGGG GCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCGG GGCAGGGTGACAGTGAGGGCTATAAGGCCACATAGGGCAGGAGGGACCTG GGGACAGG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0163 a0004c0016t0001g0163	1	292	0.0034	-307	c.395 others(17): Show c.395-2322_395-2016del	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAFA5_chr22_48484553_48756932	48679474	CGTCCATC others(300): Show CGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCCCGGCTCCCCGTC CATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATC CCTCTCCGGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTC TCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCCC GTCTCCCCGTCCATCCCTCTCCCGTCTCCCCGTCCATCCCTCTCCCGGCT CCCCGTCCATCCCTCTCCTGGCTCCCCAGCTCCCCGTCCATCCCTCTCCC GGCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp2 HG02647.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0046 a0001c0001t0002g0030 a0001c0001t0002g0046	2	258	0.0078	-307	c.263 others(19): Show c.263-28228_263-27922del	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
WDR64_chr1_241647281_241807777	241690484	ACTTGAAA others(300): Show ACTTGAAATGAGCCAGAGGGGAAAAAAACAACTTATCTGTAGAAAAGCAA AGACAAGAATTACTTGTGATTTTTCCTCAGAAATCATAAGCAAGAACAGT TGAGTGAAATATTTAAAGTGTTAGAAGACCTACCAGCCTAGAATTCTGTA TACCGTGAAATTAGCCTTTAAAAGTGAAGGAGAAATAAAACTTTCTCGGA CAAACAGAAATTGAGGAAATATGCTATCAGTATACCTGCTTTTCAAGAAA GGGTAAAAGAAGTTCTTCAGAGAGAAAGAAAAGCCGTAAGTCAGAAACTT GCATCTAT	A A	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	326	0.0031	-307	c.974 others(17): Show c.974+2890_974+3196del	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	8/27			chr1	TogoVar
WFIKKN1_chr16_625985_639117	631835	GCCTCTCC others(300): Show GCCTCTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCACTTCTTCCAT CCTCTTCTCCCACCCCATCACTGCCTCTCCTTCCATCCTCTCCTATCCAC TCCTCCCATCCACTTTTTCCATCCTCTTCTCTCACCCCGTCATTGCCTCT CCTTCCATCCTCTCCTCCCATCCACTTCTCCCACCCCTTCACTGCCTCTC CTCCCACCCTCTCCTCCCATCCACTCCTCCCATCCACTCCTCCCATCCAC TTCTTCCATCCTCTTCTCCCACCCCGTCACTGCCTCTCCTTCCATCCTCT CCTCCCAC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0012 a0001c0018t0012	a0001c0018t0012g0046 a0001c0018t0012g0046	1	404	0.0025	-307	c.171 others(15): Show c.171+433_172-419del	WFIKKN1	ENSG00000127578.7	transcript	ENST00000319070.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZDHHC14_chr6_157376190_157683157	157536808	CCTCCATC others(300): Show CCTCCATCTATCTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00558.hp1 others(62): Show HG00140.hp2 HG00408.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00733.hp2 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01934.hp1 HG02056.hp2 HG02083.hp1 HG02109.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04204.hp1 HG04228.hp2 NA18906.hp1 NA18944.hp2 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18971.hp2 NA18994.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19070.hp1 NA19087.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0006 others(2): Show a0001c0002 a0001c0004 a0001c0006 a0002c0005 a0003c0009	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(28): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0002t0014 a0001c0002t0016 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0029 a0001c0002t0030 a0001c0002t0032 a0001c0002t0035 a0001c0002t0039 a0001c0002t0041 a0001c0002t0042 a0001c0002t0044 a0001c0002t0046 a0001c0002t0048 a0001c0002t0054 a0001c0004t0012 a0001c0004t0052 a0001c0006t0026 a0002c0005t0003 a0003c0009t0050	a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0013 others(62): Show a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0080 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0181 a0001c0002t0002g0011 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0042 a0001c0002t0002g0047 a0001c0002t0002g0060 a0001c0002t0002g0062 a0001c0002t0002g0077 a0001c0002t0002g0103 a0001c0002t0002g0117 a0001c0002t0002g0128 a0001c0002t0002g0131 a0001c0002t0002g0133 a0001c0002t0002g0151 a0001c0002t0002g0157 a0001c0002t0002g0167 a0001c0002t0002g0179 a0001c0002t0002g0183 a0001c0002t0005g0006 a0001c0002t0005g0071 a0001c0002t0005g0073 a0001c0002t0006g0139 a0001c0002t0006g0185 a0001c0002t0007g0115 a0001c0002t0007g0132 a0001c0002t0007g0134 a0001c0002t0008g0036 a0001c0002t0008g0072 a0001c0002t0009g0146 a0001c0002t0010g0108 a0001c0002t0011g0095 a0001c0002t0013g0082 a0001c0002t0014g0024 a0001c0002t0016g0107 a0001c0002t0018g0012 a0001c0002t0018g0112 a0001c0002t0019g0035 a0001c0002t0020g0158 a0001c0002t0029g0096 a0001c0002t0030g0097 a0001c0002t0032g0029 a0001c0002t0035g0159 a0001c0002t0039g0008 a0001c0002t0041g0078 a0001c0002t0042g0030 a0001c0002t0044g0052 a0001c0002t0046g0105 a0001c0002t0048g0130 a0001c0002t0054g0015 a0001c0004t0012g0153 a0001c0004t0052g0033 a0001c0006t0026g0023 a0002c0005t0003g0005 a0003c0009t0050g0004	65	188	0.3457	-307	c.246 others(17): Show c.246-5760_246-5454del	ZDHHC14	ENSG00000175048.17	transcript	ENST00000359775.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
ZGRF1_chr4_112534339_112641909	112548818	TAAAAATG others(300): Show TAAAAATGTAAAGATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(306): Show HG00099.hp1 HG00140.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 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0017 a0019 a0021 a0023 a0024	a0001c0001 a0001c0008 a0001c0009 others(28): Show a0001c0001 a0001c0008 a0001c0009 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0026 a0001c0031 a0002c0002 a0002c0021 a0002c0025 a0002c0035 a0002c0038 a0003c0003 a0004c0004 a0005c0005 a0005c0034 a0007c0006 a0008c0010 a0009c0011 a0010c0012 a0011c0022 a0013c0020 a0014c0039 a0015c0037 a0017c0033 a0019c0029 a0021c0036 a0023c0040 a0024c0023	a0001c0001t0001 a0001c0008t0001 a0001c0009t0001 others(32): Show a0001c0001t0001 a0001c0008t0001 a0001c0009t0001 a0001c0013t0001 a0001c0014t0001 a0001c0015t0001 a0001c0015t0002 a0001c0017t0001 a0001c0026t0001 a0001c0031t0001 a0002c0002t0001 a0002c0002t0002 a0002c0021t0002 a0002c0025t0002 a0002c0035t0002 a0002c0038t0002 a0003c0003t0001 a0004c0004t0001 a0005c0005t0002 a0005c0034t0002 a0007c0006t0001 a0008c0010t0001 a0008c0010t0002 a0009c0011t0001 a0010c0012t0002 a0011c0022t0001 a0011c0022t0005 a0013c0020t0001 a0014c0039t0002 a0015c0037t0001 a0017c0033t0001 a0019c0029t0001 a0021c0036t0002 a0023c0040t0002 a0024c0023t0001	a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0021 others(283): Show a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0117 a0001c0001t0001g0228 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0335 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0008t0001g0104 a0001c0008t0001g0108 a0001c0008t0001g0109 a0001c0008t0001g0110 a0001c0008t0001g0111 a0001c0008t0001g0112 a0001c0008t0001g0113 a0001c0009t0001g0329 a0001c0009t0001g0330 a0001c0009t0001g0331 a0001c0009t0001g0332 a0001c0009t0001g0333 a0001c0009t0001g0337 a0001c0013t0001g0304 a0001c0013t0001g0305 a0001c0013t0001g0306 a0001c0014t0001g0102 a0001c0014t0001g0115 a0001c0014t0001g0116 a0001c0015t0001g0293 a0001c0015t0001g0294 a0001c0015t0002g0119 a0001c0017t0001g0319 a0001c0017t0001g0321 a0001c0026t0001g0276 a0001c0031t0001g0295 a0002c0002t0001g0338 a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0101 a0002c0002t0002g0118 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0142 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0227 a0002c0002t0002g0353 a0002c0002t0002g0354 a0002c0002t0002g0355 a0002c0002t0002g0356 a0002c0002t0002g0357 a0002c0021t0002g0218 a0002c0021t0002g0219 a0002c0025t0002g0144 a0002c0035t0002g0177 a0002c0038t0002g0141 a0003c0003t0001g0017 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0242 a0003c0003t0001g0243 a0003c0003t0001g0244 a0003c0003t0001g0245 a0004c0004t0001g0006 a0004c0004t0001g0024 a0004c0004t0001g0025 a0004c0004t0001g0026 a0004c0004t0001g0027 a0004c0004t0001g0029 a0004c0004t0001g0030 a0004c0004t0001g0031 a0004c0004t0001g0032 a0004c0004t0001g0033 a0004c0004t0001g0034 a0004c0004t0001g0035 a0004c0004t0001g0036 a0005c0005t0002g0136 a0005c0005t0002g0143 a0005c0005t0002g0146 a0005c0005t0002g0147 a0005c0005t0002g0148 a0005c0005t0002g0149 a0005c0005t0002g0150 a0005c0005t0002g0151 a0005c0005t0002g0152 a0005c0005t0002g0207 a0005c0005t0002g0220 a0005c0034t0002g0145 a0007c0006t0001g0020 a0007c0006t0001g0310 a0007c0006t0001g0311 a0007c0006t0001g0312 a0007c0006t0001g0313 a0007c0006t0001g0314 a0007c0006t0001g0315 a0007c0006t0001g0334 a0007c0006t0001g0350 a0008c0010t0001g0241 a0008c0010t0002g0167 a0008c0010t0002g0178 a0008c0010t0002g0205 a0008c0010t0002g0206 a0009c0011t0001g0022 a0009c0011t0001g0259 a0009c0011t0001g0347 a0010c0012t0002g0127 a0010c0012t0002g0179 a0010c0012t0002g0180 a0010c0012t0002g0181 a0011c0022t0001g0246 a0011c0022t0005g0248 a0013c0020t0001g0019 a0014c0039t0002g0124 a0015c0037t0001g0114 a0017c0033t0001g0336 a0019c0029t0001g0253 a0021c0036t0002g0226 a0023c0040t0002g0182 a0024c0023t0001g0028	309	390	0.7923	-307	c.534 others(17): Show c.5347-745_5347-439del	ZGRF1	ENSG00000138658.16	transcript	ENST00000505019.6	protein_coding	22/27			chr4	TogoVar
ABCG1_chr21_42214140_42302244	42283677	ACCCCCAC others(299): Show ACCCCCACCTCTTTCCCACCTGGACAGTTGTGAAGTACCACCCACCACCC AGATGAGTGGGGACCCCCCACCTCTGTCCTGCCTGGACAGTTGTGAAGTA CCCCCCAACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGAC AGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTC CCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCC CACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGT GGGGACC	A A	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0041 a0001c0003t0005g0041	1	354	0.0028	-306	c.735 others(15): Show c.735-871_735-566del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1460523	ACGAACCT others(299): Show ACGAACCTGCCTGTGACCTGAGTTTACCTGCGTAACGAACCTGCCTGTGA CCTGAGTTTACCTGCGTTACGAACCTGCCTGTGACCTGAGTTTACCTGCG TAGCAAACCTGCCTGTGACCTGAGTTTACCTGTGTAACGAACCTGCCTGT GACCTGAGTTTACCTGTGTAACAAACCTGCCTGTGACCTGAATTTACCTG TGTAGCAAACCTGCCTGTGACCTGAGTTTACCTGCGTAACAAACCTGCCT GTGACCTGAGTTTACCTGTGTAGCAAACCTGTCTGTGACCTGAGTTTACC TGTGTAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0024 a0010c0009t0024	a0010c0009t0024g0016 a0010c0009t0024g0016	1	106	0.0094	-306	c.101 others(19): Show c.101-81669_101-81364del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ALKBH3_chr11_43875831_43925274	43888043	TGCCTTGG others(299): Show TGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCT GGCAGTCTTTCTGTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGG GGTGCAGTGGCACGATCTCAGCTCATTGCAACTTCTGCCTCCTGGGCTCA AGCCACCCTCCCACTTCAGCCTCCGAGTAGCTGGGATTACAGGTGTGCGC CACCACACCTGGCTAATTTTGTATTTTTGTTTGTTTGTTTGTTAGTGATG GGGTTTCGCCATGTTGCCCAGGCTGGCCTTGAACTCCTGGGCTCAAGTGA TCTGCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(197): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0003c0010 a0005c0011 a0006c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0007t0005 a0002c0003t0002 a0003c0010t0002 a0005c0011t0002 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(120): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0170 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0053 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0008g0108 a0001c0001t0009g0014 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0002g0003 a0001c0002t0002g0016 a0001c0002t0002g0152 a0001c0002t0006g0051 a0001c0002t0006g0052 a0001c0002t0006g0187 a0001c0002t0006g0188 a0001c0002t0006g0189 a0001c0002t0006g0190 a0001c0007t0005g0191 a0002c0003t0002g0007 a0002c0003t0002g0017 a0002c0003t0002g0018 a0002c0003t0002g0033 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0049 a0002c0003t0002g0050 a0002c0003t0002g0101 a0002c0003t0002g0102 a0002c0003t0002g0103 a0002c0003t0002g0104 a0002c0003t0002g0105 a0002c0003t0002g0106 a0002c0003t0002g0150 a0002c0003t0002g0151 a0002c0003t0002g0165 a0002c0003t0002g0166 a0002c0003t0002g0167 a0002c0003t0002g0168 a0002c0003t0002g0169 a0002c0003t0002g0172 a0002c0003t0002g0173 a0002c0003t0002g0174 a0002c0003t0002g0175 a0002c0003t0002g0176 a0002c0003t0002g0177 a0002c0003t0002g0178 a0002c0003t0002g0179 a0002c0003t0002g0180 a0002c0003t0002g0181 a0002c0003t0002g0182 a0002c0003t0002g0183 a0002c0003t0002g0184 a0002c0003t0002g0185 a0002c0003t0002g0186 a0003c0010t0002g0033 a0005c0011t0002g0149 a0006c0008t0001g0171	200	376	0.5319	-306	c.266 others(17): Show c.266+1424_267-1343del	ALKBH3	ENSG00000166199.13	transcript	ENST00000302708.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
APBB1IP_chr10_26433341_26572803	26479012	TAAAAATT others(299): Show TAAAAATTGACATATATTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCGGCTAAAACG GTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(328): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0014 a0002c0002 others(12): Show a0001c0001 a0001c0014 a0002c0002 a0002c0006 a0003c0003 a0003c0015 a0004c0005 a0004c0013 a0005c0004 a0006c0008 a0007c0007 a0008c0009 a0009c0011 a0010c0010 a0011c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0014t0006 a0002c0002t0001 a0002c0002t0002 a0002c0006t0002 a0003c0003t0001 a0003c0003t0002 a0003c0015t0001 a0004c0005t0002 a0004c0013t0002 a0005c0004t0001 a0005c0004t0002 a0006c0008t0001 a0007c0007t0001 a0007c0007t0002 a0008c0009t0001 a0009c0011t0002 a0010c0010t0002 a0011c0012t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(328): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0303 a0001c0001t0002g0310 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0338 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0357 a0001c0001t0003g0269 a0001c0001t0003g0304 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0317 a0001c0001t0004g0152 a0001c0001t0004g0181 a0001c0001t0005g0024 a0001c0001t0007g0358 a0001c0001t0008g0336 a0001c0014t0006g0337 a0002c0002t0001g0144 a0002c0002t0001g0147 a0002c0002t0001g0162 a0002c0002t0001g0194 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0283 a0002c0002t0002g0340 a0002c0002t0002g0341 a0002c0002t0002g0342 a0002c0006t0002g0307 a0002c0006t0002g0308 a0002c0006t0002g0339 a0003c0003t0001g0110 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0002g0302 a0003c0003t0002g0349 a0003c0015t0001g0218 a0004c0005t0002g0298 a0004c0005t0002g0305 a0004c0005t0002g0306 a0004c0013t0002g0287 a0005c0004t0001g0192 a0005c0004t0002g0289 a0005c0004t0002g0301 a0006c0008t0001g0198 a0006c0008t0001g0248 a0007c0007t0001g0167 a0007c0007t0002g0309 a0008c0009t0001g0102 a0008c0009t0001g0105 a0009c0011t0002g0356 a0010c0010t0002g0348 a0011c0012t0001g0207	331	358	0.9246	-306	c.1-1 others(15): Show c.1-13298_1-12993del	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144624700	GCCCCTGT others(299): Show GCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACTCACTGCACACTGCGGC AGCCCCTGTCCCCGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGG CAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCG GCATCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGC GGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTG CGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACT GCGGCAT	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02145.hp2 HG02486.hp1 others(11): Show HG01168.hp2 HG02145.hp2 HG02486.hp1 HG02572.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0001c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 a0001c0002t0001 a0001c0010t0001 a0001c0014t0007	a0001c0001t0001g0024 a0001c0001t0001g0148 a0001c0001t0001g0149 others(11): Show a0001c0001t0001g0024 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0238 a0001c0001t0004g0237 a0001c0001t0007g0239 a0001c0001t0016g0105 a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0001g0098 a0001c0002t0001g0117 a0001c0002t0001g0218 a0001c0010t0001g0009 a0001c0014t0007g0240	14	246	0.0569	-306	c.-81 others(19): Show c.-81-19311_-81-19006del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144625345	CCACTGCA others(299): Show CCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCA CCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGC ACTCACTGCACACTGCGGCATCCCCTGTCCCCGCGGCCCCGTTCACGGAG CACTCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGA GCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGG AGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACG GAGCACT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01975.hp2 HG02559.hp1 HG01081.hp1 HG01975.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 a0001c0001 a0001c0002 a0001c0016	a0001c0001t0002 a0001c0002t0001 a0001c0016t0001 a0001c0001t0002 a0001c0002t0001 a0001c0016t0001	a0001c0001t0002g0138 a0001c0002t0001g0167 a0001c0016t0001g0091 a0001c0001t0002g0138 a0001c0002t0001g0167 a0001c0016t0001g0091	3	246	0.0122	-306	c.-81 others(19): Show c.-81-19956_-81-19651del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144625567	GCCCCTGT others(299): Show GCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGC AGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACTCACTGCACACTGCGG CAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCG GCAGCCCCTGTCCCCGCGGCCCCGTTCACGGAGCACTCACTGCACACTGC GGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTG CGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACCCACTGCACACT GCGGCAT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0105 a0001c0001t0016g0105	1	246	0.0041	-306	c.-81 others(19): Show c.-81-20178_-81-19873del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144626039	CGGCCCCG others(299): Show CGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCG GCGGCCCCGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTCCC GGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGTCC CGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGTC CCGGCGGCCCGGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGT CCCCGCGGCCCCGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTG TCCCGGA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03195.hp2 HG02647.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0017 a0001c0002t0001 a0001c0007t0017	a0001c0002t0001g0020 a0001c0007t0017g0019 a0001c0002t0001g0020 a0001c0007t0017g0019	2	246	0.0081	-306	c.-81 others(19): Show c.-81-20650_-81-20345del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ATP8B1_chr18_57641426_57808315	57642542	CGGTGGGT others(299): Show CGGTGGGTTCGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCA CGGTGAGTGTTACAGCCGTTAAGGTGGCGCGTCTGCAGTTGTTCGTTCCT TCCGGTGGGTTCGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTT CACGGTGAGTGTTACAGCCGTGAAGGTGGCGCGTGTGGAGTTGTTCGTTC CTTCTGGTGGGTTCGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACC TTCACGGTGAGTGTTACAGCCGTTAACGTGGCGCGTCTGGAGTTGTTCGT TCCTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	314	0.0032	-306	c.56 others(11): Show c.5640_*5945del	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		3883		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642551	CGTGGTCT others(299): Show CGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTG TTACAGCCGTTAAGGTGGCGCGTCTGCAGTTGTTCGTTCCTTCCGGTGGG TTCGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAG TGTTACAGCCGTGAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCTGGTG GGTTCGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTG AGTGTTACAGCCGTTAACGTGGCGCGTCTGGAGTTGTTCGTTCCTTCTGG TGGGTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01081.hp1 NA18953.hp2 HG00735.hp2 HG01081.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0001 a0001c0001t0008 a0001c0001t0011	a0001c0001t0001g0076 a0001c0001t0008g0134 a0001c0001t0011g0158 a0001c0001t0001g0076 a0001c0001t0008g0134 a0001c0001t0011g0158	3	314	0.0096	-306	c.56 others(11): Show c.5631_*5936del	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		3874		chr18	TogoVar
BRF1_chr14_105204286_105306001	105229625	CAGTCGCC others(299): Show CAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACCCT CAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCG CGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACC CTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTC CGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCA CCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTG TCCGCGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	72	0.0139	-306	c.695 others(16): Show c.695-1018_695-713del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105235126	GTCCGCGT others(299): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTG TGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACAC CACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCC TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0071 a0001c0001t0007g0071	1	72	0.0139	-306	c.694 others(17): Show c.694+5833_694+6138del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105240225	GTCCGCGT others(299): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTG TGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACAC CACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCC TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	72	0.0139	-306	c.694 others(16): Show c.694+734_694+1039del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
CD109_chr6_73691203_73833313	73711530	TTAAGTTT others(299): Show TTAAGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(244): 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 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19075.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(28): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0023 a0024 a0025 a0027 a0028 a0029 a0030 a0031 a0033 a0034 a0035	a0001c0001 a0001c0012 a0002c0002 others(36): Show a0001c0001 a0001c0012 a0002c0002 a0002c0003 a0002c0026 a0003c0004 a0003c0008 a0003c0013 a0003c0022 a0004c0005 a0005c0006 a0006c0007 a0006c0036 a0007c0009 a0008c0011 a0009c0020 a0009c0045 a0010c0014 a0011c0017 a0012c0019 a0013c0018 a0014c0015 a0015c0016 a0016c0021 a0017c0037 a0018c0033 a0019c0032 a0020c0034 a0023c0030 a0024c0024 a0025c0029 a0027c0023 a0028c0038 a0029c0039 a0030c0041 a0031c0040 a0033c0043 a0034c0046 a0035c0044	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(72): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0043 a0001c0001t0050 a0001c0012t0003 a0001c0012t0033 a0002c0002t0002 a0002c0002t0014 a0002c0003t0002 a0002c0003t0004 a0002c0003t0010 a0002c0003t0025 a0002c0003t0044 a0002c0026t0010 a0003c0004t0003 a0003c0004t0005 a0003c0008t0003 a0003c0013t0001 a0003c0013t0008 a0003c0022t0001 a0004c0005t0007 a0004c0005t0008 a0004c0005t0012 a0004c0005t0015 a0004c0005t0022 a0004c0005t0038 a0004c0005t0039 a0004c0005t0040 a0004c0005t0047 a0005c0006t0002 a0005c0006t0004 a0005c0006t0018 a0005c0006t0048 a0006c0007t0009 a0006c0007t0017 a0006c0007t0046 a0006c0036t0003 a0007c0009t0002 a0008c0011t0013 a0008c0011t0052 a0009c0020t0009 a0009c0020t0015 a0009c0045t0051 a0010c0014t0004 a0011c0017t0003 a0011c0017t0023 a0012c0019t0012 a0013c0018t0004 a0014c0015t0004 a0015c0016t0018 a0016c0021t0016 a0017c0037t0001 a0018c0033t0001 a0019c0032t0016 a0020c0034t0037 a0023c0030t0002 a0024c0024t0004 a0025c0029t0032 a0027c0023t0010 a0028c0038t0003 a0029c0039t0036 a0030c0041t0004 a0031c0040t0042 a0033c0043t0024 a0034c0046t0022 a0035c0044t0003	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0015 others(244): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0005g0005 a0001c0001t0005g0013 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0026 a0001c0001t0005g0030 a0001c0001t0005g0266 a0001c0001t0009g0004 a0001c0001t0011g0125 a0001c0001t0011g0141 a0001c0001t0011g0142 a0001c0001t0011g0185 a0001c0001t0011g0218 a0001c0001t0011g0243 a0001c0001t0011g0320 a0001c0001t0016g0297 a0001c0001t0019g0277 a0001c0001t0019g0310 a0001c0001t0020g0242 a0001c0001t0020g0303 a0001c0001t0021g0238 a0001c0001t0021g0296 a0001c0001t0026g0199 a0001c0001t0028g0362 a0001c0001t0030g0080 a0001c0001t0043g0076 a0001c0001t0050g0012 a0001c0012t0003g0249 a0001c0012t0003g0250 a0001c0012t0003g0305 a0001c0012t0003g0306 a0001c0012t0033g0254 a0002c0002t0002g0003 a0002c0002t0002g0022 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0279 a0002c0002t0014g0134 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0004g0037 a0002c0003t0004g0038 a0002c0003t0004g0043 a0002c0003t0004g0046 a0002c0003t0004g0047 a0002c0003t0004g0050 a0002c0003t0004g0051 a0002c0003t0004g0052 a0002c0003t0004g0053 a0002c0003t0004g0054 a0002c0003t0004g0059 a0002c0003t0004g0062 a0002c0003t0004g0068 a0002c0003t0004g0070 a0002c0003t0004g0155 a0002c0003t0004g0158 a0002c0003t0004g0246 a0002c0003t0004g0259 a0002c0003t0004g0308 a0002c0003t0010g0035 a0002c0003t0010g0056 a0002c0003t0010g0057 a0002c0003t0010g0058 a0002c0003t0010g0168 a0002c0003t0010g0196 a0002c0003t0025g0061 a0002c0003t0025g0154 a0002c0003t0044g0065 a0002c0026t0010g0153 a0003c0004t0003g0039 a0003c0004t0003g0075 a0003c0004t0003g0152 a0003c0004t0003g0198 a0003c0004t0003g0280 a0003c0004t0003g0351 a0003c0004t0003g0352 a0003c0004t0003g0353 a0003c0004t0005g0042 a0003c0008t0003g0016 a0003c0008t0003g0017 a0003c0008t0003g0020 a0003c0008t0003g0021 a0003c0008t0003g0027 a0003c0008t0003g0028 a0003c0008t0003g0150 a0003c0008t0003g0265 a0003c0008t0003g0299 a0003c0013t0001g0064 a0003c0013t0001g0069 a0003c0013t0008g0001 a0003c0022t0001g0071 a0004c0005t0007g0092 a0004c0005t0007g0166 a0004c0005t0007g0195 a0004c0005t0007g0204 a0004c0005t0007g0224 a0004c0005t0007g0355 a0004c0005t0007g0356 a0004c0005t0007g0358 a0004c0005t0008g0033 a0004c0005t0008g0067 a0004c0005t0008g0157 a0004c0005t0008g0169 a0004c0005t0008g0339 a0004c0005t0008g0341 a0004c0005t0012g0121 a0004c0005t0012g0122 a0004c0005t0012g0354 a0004c0005t0012g0357 a0004c0005t0015g0077 a0004c0005t0015g0079 a0004c0005t0015g0324 a0004c0005t0022g0078 a0004c0005t0038g0201 a0004c0005t0039g0123 a0004c0005t0040g0307 a0004c0005t0047g0120 a0005c0006t0002g0098 a0005c0006t0002g0133 a0005c0006t0002g0282 a0005c0006t0004g0007 a0005c0006t0004g0014 a0005c0006t0004g0031 a0005c0006t0004g0032 a0005c0006t0004g0264 a0005c0006t0004g0281 a0005c0006t0004g0327 a0005c0006t0018g0025 a0005c0006t0048g0220 a0006c0007t0009g0149 a0006c0007t0009g0187 a0006c0007t0009g0252 a0006c0007t0009g0253 a0006c0007t0017g0036 a0006c0007t0017g0188 a0006c0007t0046g0349 a0006c0036t0003g0151 a0007c0009t0002g0099 a0007c0009t0002g0200 a0007c0009t0002g0340 a0007c0009t0002g0342 a0007c0009t0002g0343 a0007c0009t0002g0344 a0007c0009t0002g0345 a0007c0009t0002g0347 a0007c0009t0002g0348 a0008c0011t0013g0240 a0008c0011t0013g0318 a0008c0011t0013g0319 a0008c0011t0013g0322 a0008c0011t0013g0323 a0008c0011t0013g0325 a0008c0011t0052g0298 a0009c0020t0009g0334 a0009c0020t0015g0336 a0009c0045t0051g0337 a0010c0014t0004g0048 a0010c0014t0004g0049 a0011c0017t0003g0006 a0011c0017t0023g0009 a0012c0019t0012g0124 a0013c0018t0004g0326 a0013c0018t0004g0329 a0014c0015t0004g0082 a0014c0015t0004g0127 a0015c0016t0018g0040 a0015c0016t0018g0272 a0016c0021t0016g0034 a0016c0021t0016g0148 a0017c0037t0001g0208 a0018c0033t0001g0328 a0019c0032t0016g0241 a0020c0034t0037g0139 a0023c0030t0002g0081 a0024c0024t0004g0060 a0025c0029t0032g0072 a0027c0023t0010g0217 a0028c0038t0003g0063 a0029c0039t0036g0008 a0030c0041t0004g0011 a0031c0040t0042g0359 a0033c0043t0024g0273 a0034c0046t0022g0333 a0035c0044t0003g0335	247	362	0.6823	-306	c.248 others(19): Show c.248-11711_248-11406del	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDK12_chr17_39456486_39539544	39466200	CGGGAGGC others(299): Show CGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTATA GTGAGCCAAAGTCACGCCACTGCACTCCAGCCTGGGCGACAGAATGAGAC TGCGTCTCAAAAAAAAAAAAAAAGAAAGAAAAAGGCCAGGCGCAGTGGAT CACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTG AGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTTTCTCT ACTAAAAATACAAAATTAGCTGGGCGTGGTGTCACATGCCTGTAATCCCA GCTACTT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0093 a0001c0001t0012g0093	1	260	0.0039	-306	c.104 others(19): Show c.1046+3105_1046+3410del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CMSS1_chr3_99812862_100186732	100066506	AGGCTTTG others(299): Show AGGCTTTGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(67): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01192.hp2 HG01433.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18943.hp2 NA18954.hp1 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA19007.hp2 NA19065.hp2 NA19083.hp1 NA19088.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0002c0002t0003 a0002c0002t0017 a0002c0002t0020	a0001c0001t0001g0102 a0001c0001t0001g0132 a0001c0001t0002g0086 others(66): Show a0001c0001t0001g0102 a0001c0001t0001g0132 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0140 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0007 a0001c0001t0008g0087 a0001c0001t0008g0088 a0001c0001t0008g0089 a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0009g0040 a0001c0001t0018g0002 a0002c0002t0003g0001 a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0111 a0002c0002t0003g0112 a0002c0002t0003g0113 a0002c0002t0003g0114 a0002c0002t0003g0115 a0002c0002t0003g0117 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0121 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0124 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0003g0127 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0133 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0141 a0002c0002t0017g0131 a0002c0002t0020g0116	70	232	0.3017	-306	c.65- others(17): Show c.65-80453_65-80148del	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN1_chr12_40687439_41077415	40789393	GAAAACAA others(299): Show GAAAACAACCTAAAGAAATTGAAATTTGAATTCTGAATCTCCACTGATAC TGACAAGGGAACAGGCAAGTCATTTAGTGATCCTTATTTGGCAAAAAGGG GATGACAATGAAAAGATCATTATAAGGATTACAGAAAATACATGCATGCT GTGCTGTGATAGGAACTCTTTAATTTAAAAAATGCACACACATGTTGAAA AAGTTGGAAAATAAAAGAAATAACTCATAATCTCATATCTCATGGATAAG CTTTTGTTAACATTTTGAGATATTTTGAGTTCATATATACCTAAATTTTA ATATCCT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0012 a0001c0013 a0002c0007 a0003c0008 a0004c0011 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0002t0022 a0001c0002t0023 a0001c0002t0027 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0011 a0001c0003t0016 a0001c0003t0019 a0001c0003t0020 a0001c0004t0001 a0001c0004t0003 a0001c0004t0007 a0001c0005t0002 a0001c0005t0007 a0001c0005t0025 a0001c0006t0006 a0001c0009t0004 a0001c0012t0021 a0001c0013t0001 a0002c0007t0008 a0003c0008t0002 a0004c0011t0001 a0005c0010t0002	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0049 others(198): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0177 a0001c0001t0001g0188 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0045 a0001c0001t0002g0059 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0141 a0001c0001t0002g0146 a0001c0001t0002g0153 a0001c0001t0002g0158 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0180 a0001c0001t0002g0209 a0001c0001t0002g0220 a0001c0001t0003g0023 a0001c0001t0003g0120 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0004g0029 a0001c0001t0004g0054 a0001c0001t0004g0086 a0001c0001t0004g0093 a0001c0001t0004g0115 a0001c0001t0004g0134 a0001c0001t0004g0137 a0001c0001t0004g0170 a0001c0001t0004g0179 a0001c0001t0004g0184 a0001c0001t0004g0216 a0001c0001t0004g0225 a0001c0001t0005g0020 a0001c0001t0005g0135 a0001c0001t0006g0106 a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0007g0055 a0001c0001t0007g0058 a0001c0001t0009g0181 a0001c0001t0009g0182 a0001c0001t0009g0183 a0001c0001t0010g0202 a0001c0001t0012g0012 a0001c0001t0012g0125 a0001c0001t0013g0133 a0001c0001t0013g0211 a0001c0001t0014g0074 a0001c0001t0014g0185 a0001c0001t0015g0219 a0001c0001t0017g0187 a0001c0001t0018g0048 a0001c0001t0024g0167 a0001c0001t0026g0190 a0001c0002t0001g0001 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0068 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0116 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0136 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0169 a0001c0002t0001g0174 a0001c0002t0001g0189 a0001c0002t0001g0194 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0215 a0001c0002t0002g0221 a0001c0002t0003g0060 a0001c0002t0003g0075 a0001c0002t0004g0117 a0001c0002t0010g0126 a0001c0002t0010g0127 a0001c0002t0022g0172 a0001c0002t0023g0144 a0001c0002t0027g0041 a0001c0003t0002g0108 a0001c0003t0002g0128 a0001c0003t0003g0061 a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0003g0066 a0001c0003t0005g0082 a0001c0003t0005g0155 a0001c0003t0005g0178 a0001c0003t0005g0191 a0001c0003t0005g0193 a0001c0003t0011g0199 a0001c0003t0016g0226 a0001c0003t0019g0056 a0001c0003t0020g0165 a0001c0004t0001g0217 a0001c0004t0003g0168 a0001c0004t0003g0171 a0001c0004t0007g0057 a0001c0004t0007g0213 a0001c0004t0007g0214 a0001c0005t0002g0053 a0001c0005t0002g0062 a0001c0005t0002g0081 a0001c0005t0002g0173 a0001c0005t0002g0207 a0001c0005t0002g0210 a0001c0005t0007g0148 a0001c0005t0025g0052 a0001c0006t0006g0015 a0001c0006t0006g0017 a0001c0006t0006g0018 a0001c0006t0006g0021 a0001c0006t0006g0051 a0001c0006t0006g0119 a0001c0009t0004g0046 a0001c0012t0021g0204 a0001c0013t0001g0050 a0002c0007t0008g0122 a0002c0007t0008g0123 a0002c0007t0008g0186 a0002c0007t0008g0192 a0003c0008t0002g0143 a0004c0011t0001g0097 a0005c0010t0002g0026	201	230	0.8739	-306	c.-77 others(19): Show c.-77+96803_-77+97108del	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
COL4A2_chr13_110302284_110518209	110313511	CGTCCACC others(299): Show CGTCCACCCGGCAGGCTCCCACCCCGGTGCCCCGCGTCCACCCGGCAGGC TCCCACCCCAGTGCCCCGTGTCCACCCGGCAGGCTCCCACCCCAGTGCCC CGTGTCCACCCGGCAGGCTCCCACCCCGGTGCCCCGCGTCCACCCGGCAG GCTCCCACCCCAGTGCCCCGTGTCCACCCGGCAGGCTCCCACCCCGGTGC CCCGCGTCCACCCAGCAGGCTCCCACCCCAGTGCCCCGTGTCCACCCGGC AGGCTCCCACCCCGGTGCCCCGCGTCCACCCGGCAGGCTCCCACCCCAGT GCCCCGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00639.hp2 others(14): Show HG00099.hp2 HG00280.hp2 HG00639.hp2 HG00741.hp1 HG01074.hp2 HG01168.hp1 HG01346.hp2 HG01891.hp2 HG03688.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18946.hp1 NA18949.hp1 NA18961.hp1 NA20129.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0011	a0001c0001 a0001c0003 a0001c0014 others(10): Show a0001c0001 a0001c0003 a0001c0014 a0001c0022 a0001c0028 a0001c0051 a0002c0006 a0003c0010 a0003c0018 a0004c0089 a0005c0021 a0008c0023 a0011c0032	a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 a0001c0014t0005 a0001c0022t0018 a0001c0028t0001 a0001c0051t0004 a0002c0006t0001 a0003c0010t0004 a0003c0018t0006 a0004c0089t0005 a0005c0021t0001 a0008c0023t0001 a0011c0032t0002	a0001c0001t0001g0195 a0001c0001t0003g0124 a0001c0001t0003g0135 others(14): Show a0001c0001t0001g0195 a0001c0001t0003g0124 a0001c0001t0003g0135 a0001c0003t0003g0065 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0014t0005g0240 a0001c0022t0018g0173 a0001c0028t0001g0167 a0001c0051t0004g0315 a0002c0006t0001g0114 a0003c0010t0004g0351 a0003c0018t0006g0121 a0004c0089t0005g0187 a0005c0021t0001g0211 a0008c0023t0001g0262 a0011c0032t0002g0302	17	372	0.0457	-306	c.99+ others(15): Show c.99+5441_99+5746del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CTCFL_chr20_57492166_57530140	57504256	ATGAGCCA others(299): Show ATGAGCCACTGCACCCGCCCCCCGTCTCCTTTTTTTTTTTTGAGATGGGA GTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGGTGTCAGCTCAC TGCAACCTCTACTTCCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCA AGTAGGTGGGACTACAGGCGAGTGCCACCACACCCAGCTAATTTTTGTTA TTTTTAGTAGAGACAGTGTTCCACCATGCTGGCCAGGCTGGACTCAAAAC TCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATT ACAGGCG	A A	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA19080.hp2 NA18978.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0097 a0001c0001t0001g0076 a0001c0001t0001g0097	2	424	0.0047	-306	c.167 others(17): Show c.1675-961_1675-656del	CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding	9/10			chr20	TogoVar
ELL2_chr5_95880098_95966851	95927400	TACACACA others(299): Show TACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACA TACACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACA TACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACATA CACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACA TACACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGA CATACACACACACGTGTGTATATAGACATACACACACACGTGTGTATATA GACATAC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0023 a0001c0004t0001g0023	1	314	0.0032	-306	c.196 others(17): Show c.196-8161_196-7856del	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ERC1_chr12_986223_1500931	1122295	ATCTCTAT others(299): Show ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGT CTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCT CTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCT ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTAT CTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCT GTGTCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCT ATCTGTG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0076 a0002c0002t0076	a0002c0002t0076g0146 a0002c0002t0076g0146	1	162	0.0062	-306	c.156 others(19): Show c.1569+6272_1569+6577del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FILIP1L_chr3_99823811_100119501	100066506	AGGCTTTG others(299): Show AGGCTTTGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(71): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01123.hp1 HG01192.hp1 HG01433.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18943.hp2 NA18954.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18981.hp2 NA19007.hp2 NA19065.hp2 NA19083.hp2 NA19086.hp1 NA19088.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0002c0002 a0002c0003 others(4): Show a0001c0001 a0002c0002 a0002c0003 a0002c0007 a0003c0004 a0005c0010 a0006c0009	a0001c0001t0013 a0002c0002t0002 a0002c0002t0020 others(5): Show a0001c0001t0013 a0002c0002t0002 a0002c0002t0020 a0002c0003t0006 a0002c0007t0003 a0003c0004t0009 a0005c0010t0014 a0006c0009t0002	a0001c0001t0013g0013 a0002c0002t0002g0001 a0002c0002t0002g0042 others(70): Show a0001c0001t0013g0013 a0002c0002t0002g0001 a0002c0002t0002g0042 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0054 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0197 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0020g0153 a0002c0003t0006g0015 a0002c0003t0006g0016 a0002c0003t0006g0017 a0002c0003t0006g0018 a0002c0003t0006g0019 a0002c0007t0003g0231 a0003c0004t0009g0010 a0003c0004t0009g0011 a0003c0004t0009g0012 a0005c0010t0014g0009 a0006c0009t0002g0223	74	258	0.2868	-306	c.-11 others(19): Show c.-11+47241_-11+47546del	FILIP1L	ENSG00000168386.19	transcript	ENST00000477258.2	protein_coding	1/5			chr3	TogoVar
FLCN_chr17_17207212_17242168	17209922	ATCAGGTG others(299): Show ATCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTG TGAGCCACCGTGCCTGGCCGTTTGTGTTTATTTTTTATTTTTTGAGACAG AGTCTCGCTTTGCTGCCCAGACAGGAGTGCCATGGGGCCATCTCAGCTCA CTGCAACCTCCACCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCT GAGCAGCTGGGATTACAGGTGCCTGACACCACGCCTAGCTAATTTTTGTA CTTTTAGTAGAGATGGGAGTTCACCATGTTGGCCAGGCTGGTCTCGAACA CCTGACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0085 a0001c0001t0026g0085	1	370	0.0027	-306	c.34 others(11): Show c.3427_*3732del	FLCN	ENSG00000154803.13	transcript	ENST00000285071.9	protein_coding		2289		chr17	TogoVar
FOXN3_chr14_89151177_89422233	89361827	CACCTCCA others(299): Show CACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCA GCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCACC TCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCAC CTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTA CCACCTCCAGCACCACCACCTCCACCACCACCTCCACCACTACCACCTCC AGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTC CACCACT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG02572.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0097 a0001c0001t0012 a0001c0001t0097	a0001c0001t0012g0171 a0001c0001t0097g0164 a0001c0001t0012g0171 a0001c0001t0097g0164	2	230	0.0087	-306	c.544 others(19): Show c.544-11325_544-11020del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362307	CACCTCCA others(299): Show CACCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCACCACCACCT CCTCCTCCTCCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACC ACCACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAGCACCAGCTC CACCACCTCCTCCTCCACCACCACCACCACCACCACCACCATCTCCACCA CCACCACCACCATCTCTACGACCACCACCACCACCATCTCCACCACCACC TCCACCACCACCACCACCACCATCTCTACGACCACCACCACCACCACCAT CTCTACG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0194	1	230	0.0044	-306	c.544 others(19): Show c.544-11805_544-11500del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GMEB2_chr20_63582605_63632101	63608429	ATCCATTT others(299): Show ATCCATTTCTAGAAACATGTCCCTCTGACCCCACATCCATTTCTAGAAAC ATGCCCCTCTGACCCCACCTCCATTTCTAGAAACATGTCCCTCTGACCCC ACATCCATTTCTAGAAACATGCCCCTCTGACCCCACCTCCATTTCTAGAA ACATGTCCCTCTGACCCCACATCCATTTCTAGAAACATGCCCCTCTGACC TCACCTCCATTTCTAGAAACATGCCCCTGTGACCCCACCTCCATTTCTAG AAACATGTCCCTCTGACCCCACATCCATTTCTAGAAACATGCCCCTCTGA CCCCACC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0083 a0001c0004t0004g0083	1	330	0.0030	-306	c.132 others(17): Show c.132-3895_132-3590del	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
HACL1_chr3_15555699_15606569	15592712	ACGCACAT others(299): Show ACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATAC ACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGT GTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGT GTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGC ACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACAT GTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTAT ACACATG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0386 a0001c0001t0001g0386	1	428	0.0023	-306	c.228 others(17): Show c.228-1338_228-1033del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15592728	GTATACAC others(299): Show GTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGT GTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGC ACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACAT GTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTAT ACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGC GTGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCATAT GTACATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02273.hp2 NA18979.hp1 others(2): Show HG00639.hp2 HG02273.hp2 NA18979.hp1 NA18983.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0073 others(2): Show a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075	5	428	0.0117	-306	c.228 others(17): Show c.228-1354_228-1049del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63432072	AGGGAAGG others(299): Show AGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCAC CCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCC ACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAA GGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTG GGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCC TCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCC ACCCTCT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp2 NA19030.hp1 HG02451.hp1 HG03041.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0012 a0002c0001t0065 a0001c0002t0012 a0002c0001t0065	a0001c0002t0012g0028 a0001c0002t0012g0029 a0002c0001t0065g0035 a0001c0002t0012g0028 a0001c0002t0012g0029 a0002c0001t0065g0035	3	330	0.0091	-306	c.111 others(18): Show c.1119-1009_1119-704del	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16			chr20	TogoVar
KDM4A_chr1_43645149_43710518	43672251	TGATCTTG others(299): Show TGATCTTGGCTCACTGCAACCTCTGCCTTCCAGGTTCAAGCAGTTCTCCT GCCTCAGCCTCTCGAGTAGCTGGTATTACAGGTGTGTGCCACCACACCCA GCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGG CTGGTCTGGAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAG TGGTGGGATTACAGGCGTGAGCCACTGTGGCTGGCCTTTTGTTTTTTTTT CTTTTTTTTTTTGAGACGGGGTCTCGCTCTGTTGCCCAGGCTGGAGTGCA GTGGCAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	370	0.0027	-306	c.173 others(17): Show c.1734+395_1734+700del	KDM4A	ENSG00000066135.13	transcript	ENST00000372396.4	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIAA1671_chr22_24947716_25202448	25000186	TTTTTTTT others(299): Show TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCGCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0005 a0005	a0005c0068 a0005c0068	a0005c0068t0004 a0005c0068t0004	a0005c0068t0004g0156 a0005c0068t0004g0156	1	254	0.0039	-306	c.-20 others(21): Show c.-207-25428_-207-25123del	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
KNDC1_chr10_133155219_133231412	133223071	GTGAGAGC others(299): Show GTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGC CCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAG GCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTC TTCCCGGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCTCGGC ATGTGTGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTGTTCCCGGC GTGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCTCGGCGTGT GTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0302 a0001c0003t0003g0302	1	332	0.0030	-306	c.501 others(19): Show c.5019-1585_5019-1280del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
LARS2_chr3_45383576_45554407	45430334	TGTGGCGT others(299): Show TGTGGCGTGATCACGGCTCACTGCAAGCTCAGCCTCCCAGGTTCACGCCA TTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACC ATGCCCCGCTAAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT GTTAGCCAGGATGGTTTTGATCTCCTGACCTCGTGATCTGCCCGCCTCGG CCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCACTGCGCCCGGCCAATC TTTTTTTTTTTTTTTTTTTGAGTCAGAGTCTCGCCCTGTGGCCCAGGCTG GAGTGCC	T T	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0166 a0001c0001t0004g0166	1	242	0.0041	-306	c.516 others(19): Show c.516+10612_516+10917del	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(299): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG03471.hp1 HG01099.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0222 a0001c0001t0001g0022 a0001c0001t0001g0222	2	350	0.0057	-306	c.28 others(11): Show c.2858_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
MEIOB_chr16_1828986_1877164	1836490	AAAGAGAC others(299): Show AAAGAGACAGTATTTAGGGGCCCATGCTAACTGTTGAAGAGATGCAGCAT CTTACTGCAACTTTACTGCCTTTGGCCTGGTAGTGAAGAGGCCTCAAGCC GAGGTCCTAGAAATATTGCTAAGGCCACTGGAGACTCCATGTCTGCAAAC TATTCAGATGTGTTGGTGGCCATGGAAAATGGGAAAACCTGCTTATGAGG CTGAGATGGAGGAGATGCAGCATTCACAAATGCTCCTGCAGGATGTCCAT GAGATGAAAACTAATTTCATAATAACACTAATTCTCTCATCAGCACGCAA TGTTTTC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0346	1	380	0.0026	-306	c.130 others(18): Show c.1305+988_1305+1293del	MEIOB	ENSG00000162039.18	transcript	ENST00000325962.9	protein_coding	13/13			chr16	TogoVar
MICAL3_chr22_17782649_18029561	17877158	GTTATGGA others(299): Show GTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAT GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGG TTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGG AAGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGTT AGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03041.hp1 HG02818.hp1 HG03041.hp1	a0011 a0032 a0011 a0032	a0011c0017 a0032c0055 a0011c0017 a0032c0055	a0011c0017t0009 a0032c0055t0005 a0011c0017t0009 a0032c0055t0005	a0011c0017t0009g0010 a0032c0055t0005g0039 a0011c0017t0009g0010 a0032c0055t0005g0039	2	274	0.0073	-306	c.224 others(19): Show c.2242-5441_2242-5136del	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MIGA1_chr1_77774649_77884540	77861861	CCAGGCAT others(299): Show CCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGG CGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAACCTAGCCAACATGG AAAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTATAGTGGCT CACGCCTGTAATCCCAACTACTCGGGAGGCCAAGGAACGAGAATTGCTTG AACCTGGGAGGTGGAGGCGGCAGTGAGCCAAGATCGTGCCACTGTACTCC AGCCTGGGTGACAGAACGAGACTCTGTCTCAAAAAATATATAGATATAGA TATTGGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02451.hp1 others(6): Show HG02055.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp2 HG03139.hp1 HG03209.hp1 HG03516.hp1 NA18522.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012	a0001c0001t0004g0036 a0001c0001t0011g0164 a0001c0001t0011g0165 others(6): Show a0001c0001t0004g0036 a0001c0001t0011g0164 a0001c0001t0011g0165 a0001c0001t0011g0166 a0001c0001t0011g0167 a0001c0001t0012g0145 a0001c0001t0012g0162 a0001c0001t0012g0163 a0001c0001t0012g0170	9	280	0.0321	-306	c.127 others(17): Show c.1278+616_1278+921del	MIGA1	ENSG00000180488.17	transcript	ENST00000370791.9	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
MINK1_chr17_4828340_4903061	4830384	CTTTTTTT others(299): Show CTTTTTTTTTTTTTTTTTTTTTGAGACGTTGTCTTGCTCTGTCACCCAGG CTGGAGTGCAGTGGCACGTTCTCGGCTCACTGCAACCTCTGCCTCCCGGG TTCAAGCGATTCTTCTGCATCGGCATCCCGAATAGCTGGGATTACAGGCG CCTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACATGGTTT CACCATGTTGTCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACT CGTCTCGGCCTCCCCAAAAGTGCTGGGATTACAGGCGTGAGCCACTGCAC CCGGCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG01361.hp2 others(7): Show HG00438.hp1 HG00642.hp2 HG01361.hp2 HG04204.hp2 NA18949.hp2 NA18999.hp1 NA19012.hp2 NA19063.hp1 NA19079.hp1 NA19091.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0002 a0003c0003 others(1): Show a0001c0005 a0002c0002 a0003c0003 a0003c0007	a0001c0005t0037 a0002c0002t0035 a0003c0003t0003 others(4): Show a0001c0005t0037 a0002c0002t0035 a0003c0003t0003 a0003c0003t0010 a0003c0003t0011 a0003c0003t0036 a0003c0007t0003	a0001c0005t0037g0058 a0002c0002t0035g0070 a0003c0003t0003g0023 others(7): Show a0001c0005t0037g0058 a0002c0002t0035g0070 a0003c0003t0003g0023 a0003c0003t0003g0037 a0003c0003t0003g0053 a0003c0003t0003g0063 a0003c0003t0010g0014 a0003c0003t0011g0018 a0003c0003t0036g0033 a0003c0007t0003g0002	10	360	0.0278	-306	c.-31 others(11): Show c.-3199_-2894del	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding		2955		chr17	TogoVar
NDUFB4_chr3_120591336_120607507	120597740	TAACTAGT others(299): Show TAACTAGTTGGTTATACTGTCTCCAGCCAGAACCTTGTTAACTTGGGAAG AGGGTGCAGAGAGACACATTTATTACAAACTCACATGATTGGGTTTGATG TGTTAGTGTGATGCATTAAAAAAGAATAAGGCCTCAGTCAGACCTGAAAT TGAAACCAAGATCTTCTGTCTTCTAGCTGTATGCCTCAGGGTAGTTTCAA TTTTCTCATGTGTAAATAGAGGTAATACTACCAGTCTCTTTGGTTCTGTT GATTAAATGAGTGTGTGACACTATCATTTATTAATCAATACATGTAAATT CTCTTGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	424	0.0024	-306	c.180 others(17): Show c.180+1202_180+1507del	NDUFB4	ENSG00000065518.8	transcript	ENST00000184266.3	protein_coding	1/2			chr3	TogoVar

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