Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ACTRT3_chr3_169761921_169774561	169769250	G G	GCCCCACC others(164): Show GCCCCACCCCCCCACAACACCCCCAGCCCCGCCGCCCCCAGCCACCCCAG CCCCACCCCTCCAACCTCCGCAGTCCCACGCCCCGCCAACCTCCCCAGCC CCACCCCACCCCACCCCCACCCCATCCCCACCCCACCCCCACCCCATCCC CACCCCACCCTCCCCACCCCCA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	418	0.0024	171	c.200 others(184): Show c.200+70_200+71insTGGGGGTGGGGAGGGTGGGGTGGGGATGGGGT GGGGGTGGGGTGGGGATGGGGTGGGGGTGGGGTGGGGTGGGGCTGGGGAG GTTGGCGGGGCGTGGGACTGCGGAGGTTGGAGGGGTGGGGCTGGGGTGGC TGGGGGCGGCGGGGCTGGGGGTGTTGTGGGGGGGTGGGG	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding	1/1			chr3	TogoVar
ADAMTS2_chr5_179105853_179350461	179277865	C C	CGCGAGAC others(164): Show CGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCCC GAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCTGACCCCCCCCGCCG AGACCAAAGGCTGACCCCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCG AGACCAAAGGCTGACCCCCCCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0002 a0001c0046t0002	a0001c0046t0002g0194 a0001c0046t0002g0194	1	276	0.0036	171	c.535 others(188): Show c.535-4802_535-4801insCGGGGGGGTCAGCCTTTGGTCTCGGGGG GGGTCAGCCTTTGGTCTCGGGGGGGGGGGGTCAGCCTTTGGTCTCGGCGG GGGGGGTCAGCCTTTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGG GGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAP1_chr7_892900_959680	902462	A A	AAAAAAAA others(164): Show AAAAAAAAAAAAAAAAATGCCTGGGCGTGGTGGTGCGCGCCTATAGTTCC AGCTACTTGGGAGGTTGGGAGGCTGAGGCAAGAAAATCACTTGAACCCAG AGGCAGAGGTTGCAGTGAGCTGAGATCGCACCATTGCACTCCAGCCTGGG CAACACAGCAAGACTCGATCTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	14	0.0714	171	c.648 others(188): Show c.648+1663_648+1664insGAGATCGAGTCTTGCTGTGTTGCCCAGG CTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCTGGGT TCAAGTGATTTTCTTGCCTCAGCCTCCCAACCTCCCAAGTAGCTGGAACT ATAGGCGCGCACCACCACGCCCAGGCATTTTTTTTTTTTTTTT	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	6/10			chr7	TogoVar
ADARB2_chr10_1172313_1742525	1238707	C C	CCCTCTCC others(164): Show CCCTCTCCCTCCCGGTGTTTACTCCCCTCTGTCTCCCGGTGTTTACTCCC CCCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCT CTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCT GCCTCCCGGTGTTCACTCCCCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0096 a0002c0002t0004g0096	1	106	0.0094	171	c.136 others(190): Show c.1361+3423_1361+3424insAGGGGAGTGAACACCGGGAGGCAGAG GGGAGTGAACACCGGGAGGCAGAGGGGAGTGAACACCGGGAGGCAGAGGG GAGTGAACACCGGGAGGCAGAGGGGAGTAAACACCGGGAGGCAGGGGGGA GTAAACACCGGGAGACAGAGGGGAGTAAACACCGGGAGGGAGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AHNAK2_chr14_104932253_104983374	104933637	C C	CGGGGAGG others(164): Show CGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGG GGACCCGCGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGG GGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGG AGGGGACCCGGGGCTGAGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0005 a0006c0006t0002g0005	1	356	0.0028	171	c.44 others(182): Show c.4425_*4426insCTCACTCAGCCCCGGGTCCCCTCCCGCCCTCCCC GTCCCCTCAGCCCCGCTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGC TCCCCTCCCGCCCTCCCCGTCCCCTCAGCCGCGGGTCCCCTCCCGCCCTC CCCGTCCCCTCAGCCCCGCTCCCCTCCCGCCCTCCCC	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3615		chr14	TogoVar
AHRR_chr5_316714_443285	402298	A A	ATGAGGGT others(164): Show ATGAGGGTGTGGAGAGAAGGGGACCCTCGTGCACTGTTGGCGGGAAGGCA GTCGTTGATGAGGGTGTGGAGAGAAGGGGACCCTCGTGCACTGTTGGCGG GAAGGCAGTCGTTGTTGAGGGTGTGGAGAGAAGGGGACCCTCGTGCACTG TTGGCGGGAAGGCAGTCGTTGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0020 a0002c0002t0006g0020	1	268	0.0037	171	c.352 others(190): Show c.352-10941_352-10771dupCAGTCGTTGTTGAGGGTGTGGAGAGA AGGGGACCCTCGTGCACTGTTGGCGGGAAGGCAGTCGTTGTTGAGGGTGT GGAGAGAAGGGGACCCTCGTGCACTGTTGGCGGGAAGGCAGTCGTTGATG AGGGTGTGGAGAGAAGGGGACCCTCGTGCACTGTTGGCGGGAAGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	402522	G G	GTTGATGA others(164): Show GTTGATGAGGGTGTGGAGAGAAGGGGACCCTCGTGCACTGTTGGCGGGAA GGCAGTCGTTGTTGAGGGTGTGGAGAGAAGGGGACCCTCGTGCACTGTTG GCGGGAAGGCAGTCGTTGTTGAGGGTGTGGAGAGAAGGGGACCCTCGTGC ACTGTTGGCGGGAAGGCAGTCA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG02572.hp1 HG02572.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0013 a0004c0003t0007 a0001c0001t0013 a0004c0003t0007	a0001c0001t0013g0254 a0004c0003t0007g0221 a0001c0001t0013g0254 a0004c0003t0007g0221	2	268	0.0075	171	c.352 others(190): Show c.352-10771_352-10770insCAGTCGTTGTTGAGGGTGTGGAGAGA AGGGGACCCTCGTGCACTGTTGGCGGGAAGGCAGTCGTTGTTGAGGGTGT GGAGAGAAGGGGACCCTCGTGCACTGTTGGCGGGAAGGCAGTCATTGATG AGGGTGTGGAGAGAAGGGGACCCTCGTGCACTGTTGGCGGGAAGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ALG12_chr22_49895229_49923438	49917986	A A	AGCCCCAG others(164): Show AGCCCCAGGTGAGAGGTCCAGCCCCAGGTGAGAGGTCCGGCCCCACGTGG GAGGTCCGGCCCCAGGTGAGAGGTCCGGCCCCAGGTGAGAGGTCCGGCCC CAGGTGAGAGGTCCGGCCCCAGGTGGGAGGTCCGGCCCCAGGTGGGAGTT CCGGCCCCAGGTGAGGAGCCCG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0040 a0002c0003t0040	a0002c0003t0040g0051 a0002c0003t0040g0051	1	348	0.0029	171	c.-79 others(186): Show c.-79+276_-79+277insCGGGCTCCTCACCTGGGGCCGGAACTCCCA CCTGGGGCCGGACCTCCCACCTGGGGCCGGACCTCTCACCTGGGGCCGGA CCTCTCACCTGGGGCCGGACCTCTCACCTGGGGCCGGACCTCCCACGTGG GGCCGGACCTCTCACCTGGGGCTGGACCTCTCACCTGGGGC	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	1/9			chr22	TogoVar
ALG12_chr22_49895229_49923438	49917986	A A	AGCCCCAG others(164): Show AGCCCCAGGTGAGAGGTCCAGCCCCAGGTGAGAGGTCCGGCCCCACGTGG GAGGTCCGGCCCCAGGTGAGGAGCCCGGCCCCAGGTGAGAGGTCCGGCCC CAGGTGAGAGGTCCGGCCCCAGGTGGGAGGTCCGGCCCCAGGTGGGAGTT CCGGCCCCAGGTGAGGAGCCCG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0062 a0002c0003t0004g0062	1	348	0.0029	171	c.-79 others(186): Show c.-79+276_-79+277insCGGGCTCCTCACCTGGGGCCGGAACTCCCA CCTGGGGCCGGACCTCCCACCTGGGGCCGGACCTCTCACCTGGGGCCGGA CCTCTCACCTGGGGCCGGGCTCCTCACCTGGGGCCGGACCTCCCACGTGG GGCCGGACCTCTCACCTGGGGCTGGACCTCTCACCTGGGGC	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	1/9			chr22	TogoVar
ALG12_chr22_49895229_49923438	49917986	A A	AGCCCCAG others(164): Show AGCCCCAGGTGAGAGGTCCAGCCCCAGGTGAGAGGTCCGGCCCCAGGTGG GAGGTCCGGCCCCAGGTGAGGAGCCCGGCCCCAGGTGAGAGGTCCGGCCC CAGGTGAGAGGTCCGGCCCCAGGTGGGAGGTCCGGCCCCAGGTGGGAGTT CCGGCCCCAGGTGAGGAGCCCG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp2 HG01891.hp2 others(8): Show HG01361.hp2 HG01884.hp2 HG01891.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02723.hp2 HG03710.hp1 HG03942.hp2 HG06807.hp1 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0019 a0001c0004t0022 others(1): Show a0001c0004t0009 a0001c0004t0019 a0001c0004t0022 a0001c0004t0032	a0001c0004t0009g0016 a0001c0004t0009g0094 a0001c0004t0009g0095 others(4): Show a0001c0004t0009g0016 a0001c0004t0009g0094 a0001c0004t0009g0095 a0001c0004t0009g0096 a0001c0004t0019g0028 a0001c0004t0022g0027 a0001c0004t0032g0097	11	348	0.0316	171	c.-79 others(186): Show c.-79+276_-79+277insCGGGCTCCTCACCTGGGGCCGGAACTCCCA CCTGGGGCCGGACCTCCCACCTGGGGCCGGACCTCTCACCTGGGGCCGGA CCTCTCACCTGGGGCCGGGCTCCTCACCTGGGGCCGGACCTCCCACCTGG GGCCGGACCTCTCACCTGGGGCTGGACCTCTCACCTGGGGC	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	1/9			chr22	TogoVar
ALG12_chr22_49895229_49923438	49917986	A A	AGCCCCAG others(164): Show AGCCCCAGGTGAGAGGTCCGGCCCCAGGTGGGAGGTCCGGCCCCAGGTGA GGAGCCCGGCCCCAGGTGAGGAGCCCGGACCCAGGTGAGAGGTCCGGCCC CAGGTGAGAGGTCCGGCCCCAGGTGGGAGGTCCGGCCCCAGGTGGGAGTT CCGGCCCCAGGTGAGGAGCCCG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02080.hp1 NA18990.hp2 others(2): Show HG00423.hp2 HG02080.hp1 NA18990.hp2 NA19012.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0009 a0001c0002t0003g0009	5	348	0.0144	171	c.-79 others(186): Show c.-79+276_-79+277insCGGGCTCCTCACCTGGGGCCGGAACTCCCA CCTGGGGCCGGACCTCCCACCTGGGGCCGGACCTCTCACCTGGGGCCGGA CCTCTCACCTGGGTCCGGGCTCCTCACCTGGGGCCGGGCTCCTCACCTGG GGCCGGACCTCCCACCTGGGGCCGGACCTCTCACCTGGGGC	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	1/9			chr22	TogoVar
ALG12_chr22_49895229_49923438	49917986	A A	AGCCCCAG others(164): Show AGCCCCAGGTGAGAGGTCCGGCCCCAGGTGGGAGGTCCGGCCCCAGGTGA GGAGCCCGGCCCCAGGTGAGGAGCCCGGCCCCAGGTGAGAGGTCCGGCCC CAGGTGAGAGGTCCGGCCCCAGGTGGGAGGTCCGGCCCCAGGTGGGAGTT CCGGCCCCAGGTGAGGAGCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01074.hp2 others(47): Show HG00099.hp1 HG00140.hp1 HG01074.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01891.hp1 HG02055.hp1 HG02071.hp1 HG02109.hp2 HG02145.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18965.hp2 NA18967.hp1 NA18971.hp2 NA19030.hp1 NA19067.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0002 a0001c0005 a0005c0014 others(1): Show a0001c0002 a0001c0005 a0005c0014 a0007c0017	a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 others(14): Show a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0016 a0001c0002t0029 a0001c0002t0031 a0001c0002t0033 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0002t0071 a0001c0005t0013 a0001c0005t0020 a0001c0005t0021 a0001c0005t0034 a0005c0014t0013 a0007c0017t0007	a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0063 others(34): Show a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0081 a0001c0002t0003g0093 a0001c0002t0007g0008 a0001c0002t0007g0077 a0001c0002t0007g0079 a0001c0002t0007g0084 a0001c0002t0008g0013 a0001c0002t0008g0065 a0001c0002t0008g0073 a0001c0002t0008g0078 a0001c0002t0008g0085 a0001c0002t0016g0023 a0001c0002t0016g0083 a0001c0002t0029g0074 a0001c0002t0031g0070 a0001c0002t0033g0075 a0001c0002t0035g0069 a0001c0002t0036g0082 a0001c0002t0037g0076 a0001c0002t0071g0100 a0001c0005t0013g0086 a0001c0005t0013g0087 a0001c0005t0013g0088 a0001c0005t0020g0024 a0001c0005t0021g0025 a0001c0005t0034g0089 a0005c0014t0013g0090 a0007c0017t0007g0080	50	348	0.1437	171	c.-79 others(186): Show c.-79+276_-79+277insCGGGCTCCTCACCTGGGGCCGGAACTCCCA CCTGGGGCCGGACCTCCCACCTGGGGCCGGACCTCTCACCTGGGGCCGGA CCTCTCACCTGGGGCCGGGCTCCTCACCTGGGGCCGGGCTCCTCACCTGG GGCCGGACCTCCCACCTGGGGCCGGACCTCTCACCTGGGGC	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	1/9			chr22	TogoVar
ALG12_chr22_49895229_49923438	49917993	G G	GGTGAGAG others(164): Show GGTGAGAGGTCCGGCCCCAGGTGGGAGGTCCGGCCCCAGGTGAGGAGCCC GGCCCCAGGTGAGGAGCCCGGCCCCAGGTGAGAGGTCCGGCCCCAGGTGA GAGGTCCGGCCCCAGGTGGGAGGTCCGGCCCCAGGTGGGAGTTCCGGCCC CAGGTGAGGAGCCCGGCCCCAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01106.hp1 HG01515.hp1 HG00323.hp2 HG01106.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0026 a0001c0002t0003g0092 a0001c0002t0003g0026 a0001c0002t0003g0092	3	348	0.0086	171	c.-79 others(186): Show c.-79+269_-79+270insTTGGGGCCGGGCTCCTCACCTGGGGCCGGA ACTCCCACCTGGGGCCGGACCTCCCACCTGGGGCCGGACCTCTCACCTGG GGCCGGACCTCTCACCTGGGGCCGGGCTCCTCACCTGGGGCCGGGCTCCT CACCTGGGGCCGGACCTCCCACCTGGGGCCGGACCTCTCAC	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	1/9			chr22	TogoVar
ANO7_chr2_241183677_241230976	241218100	G G	GGGCAGCG others(164): Show GGGCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGGCAGCGGGGGCGCGCAG GGGCGGGGCGGGGGCAGCGGGGGCGCGTAGGGGCGGGGCGGGGGGGCAGC GGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGA GCGGGGGCAGCGGGGGCGCGCA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG03491.hp2 others(2): Show HG00408.hp2 HG00621.hp1 HG03491.hp2 NA19003.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0001c0021 a0002c0034 a0001c0008 a0001c0021 a0002c0034	a0001c0008t0004 a0001c0008t0020 a0001c0021t0004 others(1): Show a0001c0008t0004 a0001c0008t0020 a0001c0021t0004 a0002c0034t0020	a0001c0008t0004g0173 a0001c0008t0004g0181 a0001c0008t0020g0162 others(2): Show a0001c0008t0004g0173 a0001c0008t0004g0181 a0001c0008t0020g0162 a0001c0021t0004g0023 a0002c0034t0020g0300	5	396	0.0126	171	c.217 others(188): Show c.2179-137_2179-136insCAGCGGGGGCGCGCAGGGGCGGAGCGGG GGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGCAGCGGGGGCGCGTAGG GGCGGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGC GGGGGCGCGCAGGGGCGGAGCGGGGGCAGCGGGGGCGCGCAGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
APBB2_chr4_40805027_41219542	41159907	A A	AAGGAGAA others(164): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGGAGAAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0031 a0002c0001t0031	a0002c0001t0031g0017 a0002c0001t0031g0017	1	192	0.0052	171	c.-41 others(192): Show c.-416-16766_-416-16765insCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTTCTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
ARFRP1_chr20_63693647_63712976	63693654	A A	ACCACCAC others(164): Show ACCACCACCTCCACCTCCACCACCACCTCCACCACCACCTCCACCACCTC CACCACCTCCACCACCACCACCTCCACCTCCACCTCCACCTCCACCACCA CCTCCACCACCTCCACCACCACCACCACCACCTCCACCTCCACCTCCACC TCCACCTCCACCACCTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	296	0.0034	171	c.67 others(182): Show c.6788_*6789insAGGTGGAGGTGGTGGAGGTGGAGGTGGAGGTGGA GGTGGAGGTGGTGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGAGG TGGAGGTGGAGGTGGAGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGAG GTGGTGGTGGAGGTGGTGGTGGAGGTGGAGGTGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4992		chr20	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCT others(164): Show CCTCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCT CCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCTCCCCATCCCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCCCCTCCCC CTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0023 a0002c0005t0001g0023	1	264	0.0038	171	c.102 others(188): Show c.1024+311_1024+312insTCCCCCTCCCCCCTCCTCCCCCTTCCCC TCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTC CCCCTCCCCCCTCCCCCTCCCCATCCCCCCTCCCCCTCCCCTCCCCCTCC CCATCCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(164): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCCTCCCCCTCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCTCCCCCACCCCTCCCCCTCCCCCTCTCCCC CTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	264	0.0038	171	c.102 others(188): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCACC CCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(164): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCTCCCCCGCCCCTCCCCCTCCCCCTCTCCCC CTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	264	0.0038	171	c.102 others(188): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCGCC CCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASCC1_chr10_72091032_72221276	72198330	G G	GGGGAGGG others(164): Show GGGGAGGGGGACGGGAGGGGAGGGGGAGGGGAGGGGGACGGGAGGGGGAC GGGGAGGGGACGGGGAGGGGACGGGGAGGGGACAGGGAGGGGAGGGGAGG GGGAGGGGACGGGGAGGGGACGGGAGGGGAGGGGGAACGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGAGAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0174 a0002c0002t0006g0174	1	216	0.0046	171	c.311 others(188): Show c.311-1342_311-1341insATCTCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCGTTCCCCCTCCCCTCCCGTCCCCTCCCCGTCCCCTCCCCCTCCC CTCCCCTCCCTGTCCCCTCCCCGTCCCCTCCCCGTCCCCTCCCCGTCCCC CTCCCGTCCCCCTCCCCTCCCCCTCCCCTCCCGTCCCCCTCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72198330	G G	GGGGAGGG others(164): Show GGGGAGGGGGACGGGAGGGGAGGGGGGAGGGGAGGGGGACGGGAGGGGGA CGGGGAGGGGACGGGGAGGGGACGGGGAGGGGACAGGGAGGGGAGGGGAG GGGGAGGGGACGGGGAGGGGACGGGAGGGGAGGGGGACGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGAGAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0182 a0002c0002t0001g0182	1	216	0.0046	171	c.311 others(188): Show c.311-1342_311-1341insATCTCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCGTCCCCCTCCCCTCCCGTCCCCTCCCCGTCCCCTCCCCCTCCCC TCCCCTCCCTGTCCCCTCCCCGTCCCCTCCCCGTCCCCTCCCCGTCCCCC TCCCGTCCCCCTCCCCTCCCCCCTCCCCTCCCGTCCCCCTCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72198352	G G	GAGGGGGA others(164): Show GAGGGGGACGGGAGGGGAGGGGGAGGGGAGGGGGACGGGAGGGGGACGGG GAGGGGACGGGGAGTGGGACGGGGAGAGGGGACAGGGAGGGGAGGGAGGG GGAGGGGACGGGGAGGGGACGGGAGGGGAGGGGGACGGGAGGGGAGGGGG AGGGGGAGGGGAGGGAGATGGA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0176 a0002c0002t0001g0176	1	216	0.0046	171	c.311 others(188): Show c.311-1364_311-1363insTCCATCTCCCTCCCCTCCCCCTCCCCCT CCCCTCCCGTCCCCCTCCCCTCCCGTCCCCTCCCCGTCCCCTCCCCCTCC CTCCCCTCCCTGTCCCCTCTCCCCGTCCCACTCCCCGTCCCCTCCCCGTC CCCCTCCCGTCCCCCTCCCCTCCCCCTCCCCTCCCGTCCCCCT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASMTL_chrX_1398139_1457909	1402860	G G	GCCTCCTT others(164): Show GCCTCCTTCCCCTCCTCCCCGAATGCAGCCTCCTTCCCCTCCTCCCCGAA TGCAGCCTCCTTCCCCTCCTCCCCGAATGCAGCCTCCTTCCCCTCCTCCC CGAATGCAGCCTCCTTCCCCTCCTCCCCGAATGCAGCCTCCTTCCCCTCC TCCCCGAATGCAGCCTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0013 a0013	a0013c0036 a0013c0036	a0013c0036t0001 a0013c0036t0001	a0013c0036t0001g0147 a0013c0036t0001g0147	1	185	0.0054	171	c.40 others(180): Show c.408_*409insGGAAGGAGGCTGCATTCGGGGAGGAGGGGAAGGAGG CTGCATTCGGGGAGGAGGGGAAGGAGGCTGCATTCGGGGAGGAGGGGAAG GAGGCTGCATTCGGGGAGGAGGGGAAGGAGGCTGCATTCGGGGAGGAGGG GAAGGAGGCTGCATTCGGGGAGGAGGGGAAGGAGG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		278		chrX	TogoVar
ASTN2_chr9_116418112_117420057	117016645	T T	TGTTACAT others(164): Show TGTTACATATATAGGTTATATATATATGTTACATATATATAGGTTATATA TATATGTTACATATATATAGGTTATATATATATGTTACATATATATAGGT TATATATATATGTTACATATATATAGGTTATATATATATGTTACATATAT ATAGGTTATATATATATGTTAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	102	0.0098	171	c.142 others(190): Show c.1424-8387_1424-8386insGTAACATATATATATAACCTATATAT ATGTAACATATATATATAACCTATATATATGTAACATATATATATAACCT ATATATATGTAACATATATATATAACCTATATATATGTAACATATATATA TAACCTATATATATGTAACATATATATATAACCTATATATGTAAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22			chr9	TogoVar
ATP11A_chr13_112685038_112892168	112804147	G G	GCCCTCCT others(164): Show GCCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCC CCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTC TGCCCTCCTTCCCTTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCC CATCCCCTCTCTGCCCTCGTTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0040 a0002c0003t0001g0040	1	254	0.0039	171	c.163 others(186): Show c.163-799_163-798insCTCCTTTTCCTCCTTTCTTCCCTTCCTTCC CTCATTCCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCAT CCCCTCTCTGCCCTCCTTCCCTTCCTTTTCCTCCTTCCCTCCTTCACCTC CCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP7B_chr13_51927669_52016450	52002603	A A	AAGGGGAA others(164): Show AAGGGGAAAGGGGGGGAGGGGAGGGGAAGGGGAAAGGGGGGGAGGGGAGG GGAGGAGCGGGGAGGGGAGGAGAAGGGAGGGAAGGGGGGGAAGGGACAGG AGGGAAGGGGAGGGGGATAACAGAAGGTAGGGGAGGGGGAAGGAAAGGAA GGAAGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01891.hp2 HG01074.hp1 HG01891.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0003 a0005c0012t0003	a0005c0012t0003g0128 a0005c0012t0003g0129 a0005c0012t0003g0128 a0005c0012t0003g0129	2	302	0.0066	171	c.51+ others(186): Show c.51+8683_51+8684insCCCTCCCTCCCTCCCTCCTTCCTTCCTTTC CTTCCCCCTCCCCTACCTTCTGTTATCCCCCTCCCCTTCCCTCCTGTCCC TTCCCCCCCTTCCCTCCCTTCTCCTCCCCTCCCCGCTCCTCCCCTCCCCT CCCCCCCTTTCCCCTTCCCCTCCCCTCCCCCCCTTTCCCCT	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	1/20			chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	83055051	A A	AGTGCTGG others(164): Show AGTGCTGGGTGGGGAGACAGAGGTTCCCTGCAGGTCCGCACGGACGGTGT TAGACTCGGTGCTGGGTGGGGAGACAGAGGTTCCCTGCAGGTCCGCACGG ACGGTGTTAGACTCGGTGCTGGGTGGGGAGACAGAGGTTCCCTGCAGGTC CGCACGGACGGTGTTAGACTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0067 a0001c0001t0011g0067	1	266	0.0038	171	c.-33 others(182): Show c.-3301_-3300insCGAGTCTAACACCGTCCGTGCGGACCTGCAGGGA ACCTCTGTCTCCCCACCCAGCACCGAGTCTAACACCGTCCGTGCGGACCT GCAGGGAACCTCTGTCTCCCCACCCAGCACCGAGTCTAACACCGTCCGTG CGGACCTGCAGGGAACCTCTGTCTCCCCACCCAGCAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		3282		chr17	TogoVar
BFSP2_chr3_133395056_133480208	133425958	A A	AAGTGGAG others(164): Show AAGTGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGAGGGG GAGGGGAGGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGGGA GGGGAGGGGAAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0210	1	276	0.0036	171	c.490 others(190): Show c.490-21359_490-21358insAGTGGAGGGGGAGGGGGGAGGGGGAG GGGGAGGGGGGGAGGGGGAGGGGGAGGGGAGGGGGAAGGGGAGGGGAAGG GGAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGAGGGGAGGGGAGGGGAAGGGGAGGGGAG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6			chr3	TogoVar
C18orf63_chr18_74310839_74364189	74361918	G G	GTATAATA others(164): Show GTATAATATAATTTATAATTATATACGTATAATATAATTTATATTATATA TGCATATATAATATAATTTATATTATATATGCATATATAATATAATTTAT ATTATATATGCATATATAATATAAATTATATTATATATGCATATATAATA TAAATTATATTATATATGCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0153 a0001c0001t0008g0153	1	372	0.0027	171	c.54 others(182): Show c.5471_*5472insTATAATATAATTTATAATTATATACGTATAATAT AATTTATATTATATATGCATATATAATATAATTTATATTATATATGCATA TATAATATAATTTATATTATATATGCATATATAATATAAATTATATTATA TATGCATATATAATATAAATTATATTATATATGCATA	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2730		chr18	TogoVar
C18orf63_chr18_74310839_74364189	74361918	G G	GTATAATA others(164): Show GTATAATATAATTTATAATTATATACGTATAATATAATTTATATTATATA TGCATATATAATATAATTTATATTATATATGCATATATAATATAATTTAT ATTATATATGCATATATAATATAATTTATATTATATATGCATATATAATA TAAATTATATTATATATGCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	372	0.0027	171	c.54 others(182): Show c.5471_*5472insTATAATATAATTTATAATTATATACGTATAATAT AATTTATATTATATATGCATATATAATATAATTTATATTATATATGCATA TATAATATAATTTATATTATATATGCATATATAATATAATTTATATTATA TATGCATATATAATATAAATTATATTATATATGCATA	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2730		chr18	TogoVar
C18orf63_chr18_74310839_74364189	74361918	G G	GTATAATA others(164): Show GTATAATATAATTTATAATTATATACGTATAATATAATTTATATTATATA TGCATATATAATATAATTTATATTATATATGCATATATAATATAATTTAT ATTATATATGCATATATAATATAATTTATATTATATATGCATATATAATA TAATTTATATTATATATGCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01123.hp1 others(4): Show HG00639.hp1 HG01069.hp2 HG01123.hp1 HG01255.hp1 HG01934.hp1 HG01975.hp1 HG02300.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0012 a0001c0001 a0012c0012	a0001c0001t0002 a0012c0012t0002 a0001c0001t0002 a0012c0012t0002	a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0149 others(3): Show a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0158 a0012c0012t0002g0044	7	372	0.0188	171	c.54 others(182): Show c.5471_*5472insTATAATATAATTTATAATTATATACGTATAATAT AATTTATATTATATATGCATATATAATATAATTTATATTATATATGCATA TATAATATAATTTATATTATATATGCATATATAATATAATTTATATTATA TATGCATATATAATATAATTTATATTATATATGCATA	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2730		chr18	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(164): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCAGCTGGCCGACCCCCCCCCCCCCCGCCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03516.hp1 HG04204.hp2 others(1): Show HG03139.hp2 HG03516.hp1 HG04204.hp2 NA21309.hp1	a0014 a0019 a0042 a0014 a0019 a0042	a0014c0014 a0019c0020 a0042c0034 a0014c0014 a0019c0020 a0042c0034	a0014c0014t0001 a0019c0020t0001 a0042c0034t0001 a0014c0014t0001 a0019c0020t0001 a0042c0034t0001	a0014c0014t0001g0028 a0019c0020t0001g0025 a0019c0020t0001g0026 others(1): Show a0014c0014t0001g0028 a0019c0020t0001g0025 a0019c0020t0001g0026 a0042c0034t0001g0288	4	326	0.0123	171	c.144 others(188): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCC GCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(164): Show ACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGG CTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGACCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0208 a0003c0003t0001g0208	1	326	0.0031	171	c.145 others(188): Show c.145-7400_145-7399insGCGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGACCCCCCCCCCCCCCGCCTCCCTCCCGG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C3_chr19_6672704_6725650	6700560	G G	GATATATT others(164): Show GATATATTATATATGTAATATATAATATATGATATATTATATATGTAATA TATAATATATGATATATTATATATGTAATATATAATATATGATATATTAT ATATGTAATATATAATATATGATATATTATATATGTAATATATAATATAT GATATATTATATATGTAATATA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA20752.hp2 NA18947.hp2 NA20752.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0015 a0001c0009t0001g0184 a0001c0009t0001g0015 a0001c0009t0001g0184	2	370	0.0054	171	c.244 others(190): Show c.2440+1566_2440+1567insTATATTACATATATAATATATCATAT ATTATATATTACATATATAATATATCATATATTATATATTACATATATAA TATATCATATATTATATATTACATATATAATATATCATATATTATATATT ACATATATAATATATCATATATTATATATTACATATATAATATAT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
C3_chr19_6672704_6725650	6700560	G G	GATATATT others(164): Show GATATATTATATATGTAATATGTAATATATGATATATTATATATGTAATA TATAATATATGATATATTATATATGTAATATATAATATATGATATATTAT ATATGTAATATATAATATATGATATATTATATATGTAATATATAATATAT GATATATTATATATGTAATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0002 a0001c0035t0002	a0001c0035t0002g0056 a0001c0035t0002g0056	1	370	0.0027	171	c.244 others(190): Show c.2440+1566_2440+1567insTATATTACATATATAATATATCATAT ATTATATATTACATATATAATATATCATATATTATATATTACATATATAA TATATCATATATTATATATTACATATATAATATATCATATATTATATATT ACATATATAATATATCATATATTACATATTACATATATAATATAT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
C3_chr19_6672704_6725650	6700560	G G	GATATATT others(164): Show GATATATTATATATGTAATATGTAATATATGATATATTATATATGTAATA TGTAATATATGATATATTATATATGTAATATATAATATATGATATATTAT ATATGTAATATATAATATATGATATATTATATATGTAATATATAATATAT GATATATTATATATGTAATATA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0286 a0001c0022t0001g0286	1	370	0.0027	171	c.244 others(190): Show c.2440+1566_2440+1567insTATATTACATATATAATATATCATAT ATTATATATTACATATATAATATATCATATATTATATATTACATATATAA TATATCATATATTATATATTACATATATAATATATCATATATTACATATT ACATATATAATATATCATATATTACATATTACATATATAATATAT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
C3_chr19_6672704_6725650	6700560	G G	GATATATT others(164): Show GATATATTATATATGTAATATGTAATATATGATATATTATATATGTAATA TGTAATATATGATATATTATATATGTAATATGTAATATATGATATATTAT ATATGTAATATATAATATATGATATATTATATATGTAATATATAATATAT GATATATTATATATGTAATATA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0192 a0001c0018t0001g0192	1	370	0.0027	171	c.244 others(190): Show c.2440+1566_2440+1567insTATATTACATATATAATATATCATAT ATTATATATTACATATATAATATATCATATATTATATATTACATATATAA TATATCATATATTACATATTACATATATAATATATCATATATTACATATT ACATATATAATATATCATATATTACATATTACATATATAATATAT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
C5AR1_chr19_47304861_47327066	47305966	A A	ATTTTTTT others(164): Show ATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCACGACACGACGATGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	376	0.0027	171	c.-39 others(182): Show c.-3930_-3929insTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCACGACACGACGATGTT	C5AR1	ENSG00000197405.8	transcript	ENST00000355085.4	protein_coding		3894		chr19	TogoVar
C7orf50_chr7_992006_1143247	1081696	C C	CGCAGCCT others(164): Show CGCAGCCTGGGGGAGGGACAGGGAGGCCTCTCGAACCCATGGCTTTCTTC TGCCCACTGCAGCCTGGGGGAGGGACAGGGAGGCCTCTCGAACCCATGGC TTTCTTCTGCCCACTGCAGCCTGGGGGAGGGACAGGGAGGCCTCTCGAAC CCATGGCTTTCTTCTGCCCACT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03471.hp2 HG01978.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0008 a0001c0001t0010	a0001c0001t0008g0132 a0001c0001t0010g0123 a0001c0001t0008g0132 a0001c0001t0010g0123	2	326	0.0061	171	c.129 others(190): Show c.129+45560_129+45561insAGTGGGCAGAAGAAAGCCATGGGTTC GAGAGGCCTCCCTGTCCCTCCCCCAGGCTGCAGTGGGCAGAAGAAAGCCA TGGGTTCGAGAGGCCTCCCTGTCCCTCCCCCAGGCTGCAGTGGGCAGAAG AAAGCCATGGGTTCGAGAGGCCTCCCTGTCCCTCCCCCAGGCTGC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1116289	G G	GGATGATG others(164): Show GGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCC CACGCAGGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCATCACC GACGCCCACGCAGGATGATGACATCACTGCAGCTCTACGGACCGGCTTCC ATCACCGACGCCCACGCAGGAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18971.hp1 NA19007.hp2 others(1): Show NA18945.hp1 NA18971.hp1 NA19007.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0004g0185 others(1): Show a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0200	4	326	0.0123	171	c.129 others(190): Show c.129+10967_129+10968insATCCTGCGTGGGCGTCGGTGATGGAA GCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTG ATGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCG TCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCATC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CA10_chr17_51625320_52163714	51831667	A A	AAGCAGCA others(164): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGCAGCAGCAGC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	156	0.0064	171	c.280 others(190): Show c.280-83850_280-83849insGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CABLES2_chr20_62383634_62412285	62398076	G G	GTGGTGGT others(164): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGATGGCGATGGTGGTGGTGACGGTGGTGGTGGTGG TGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGACG GTGGTGATGGTGGTGATGGCGA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	400	0.0025	171	c.363 others(188): Show c.363-1485_363-1484insTCGCCATCACCACCATCACCACCGTCAC CACCACCACCACCATCACCACCACCACCACCATCACCACCATCACCACCA CCACCACCGTCACCACCACCATCGCCATCACCACCATCACCACCATCACC ACCACCACCACCATCACCACCACCACCACCATCACCACCACCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(164): Show TTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTCTTTCTTTCTTT CTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTC TCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0010 a0005c0022t0010	a0005c0022t0010g0109 a0005c0022t0010g0109	1	218	0.0046	171	c.573 others(190): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAAG AAAGAAAGAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137921278	A A	AGTAAAGC others(164): Show AGTAAAGCGTTCGGAGAACATGGTCAGCACCACGGCCGCGCAGCATCCTG GGAGCAGAGTAAAGCGTTCGGAGAACATGGTCAGCACCACGACCGCACAG CATCCTGGGAGCAGAGTAAAGCGTTCGGAGAACATGATCAGCACCACGAC CGCACAGCATCCTGGGAGCAGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20752.hp2 HG02486.hp2 NA20752.hp2	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0011 a0005c0024t0011	a0005c0024t0011g0160 a0005c0024t0011g0162 a0005c0024t0011g0160 a0005c0024t0011g0162	2	248	0.0081	171	c.966 others(188): Show c.966+3937_966+3938insACCGCACAGCATCCTGGGAGCAGAGTAA AGCGTTCGGAGAACATGATCAGCACCACGACCGCACAGCATCCTGGGAGC AGGGTAAAGCGTTCGGAGAACATGGTCAGCACCACGGCCGCGCAGCATCC TGGGAGCAGAGTAAAGCGTTCGGAGAACATGGTCAGCACCACG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	6/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CASQ2_chr1_115695021_115773714	115761464	G G	GGGAAGGG others(164): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGAAGAAGGAGA AGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAAG GAGAAGGAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0162 a0001c0001t0005g0162	1	364	0.0028	171	c.234 others(188): Show c.234+6843_234+6844insTCTCCTTCTCCTTCTCCTTCTCCTTTTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCT TCTTCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761488	G G	GGGAAGGG others(164): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGA AGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	364	0.0028	171	c.234 others(188): Show c.234+6819_234+6820insTCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCC TCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761497	G G	GGGAAGGG others(164): Show GGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGA GGAAGAAGGAGAAGGAGAAGGAGAGGAAGAGGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02970.hp2 HG02895.hp1 HG02970.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0017 a0002c0004t0011 a0002c0004t0017	a0002c0004t0011g0009 a0002c0004t0017g0011 a0002c0004t0011g0009 a0002c0004t0017g0011	2	364	0.0055	171	c.234 others(188): Show c.234+6810_234+6811insTCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCCTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCC TCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244621181	T T	TTATATAA others(164): Show TTATATAAATATATCTATATATTATATATAGATATATTTATATAAATATA TCTATATATTATATATAGATATATTTATATAAATATATCTATATATTATA TATAGATATATTTATATAAATATATCTATATATTATATATAGATATATTT ATATAAATATATCTATATATTA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03491.hp2 HG03492.hp2 HG03130.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0002g0139 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0002g0139	3	206	0.0146	171	c.264 others(190): Show c.2648+3501_2648+3502insAATATATCTATATATTATATATAGAT ATATTTATATAAATATATCTATATATTATATATAGATATATTTATATAAA TATATCTATATATTATATATAGATATATTTATATAAATATATCTATATAT TATATATAGATATATTTATATAAATATATCTATATATTATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC38_chr12_95862048_95947614	95908636	A A	AGAGGGAG others(164): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18966.hp2 NA18747.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0067 a0001c0002t0001g0051 a0001c0002t0001g0067	2	350	0.0057	171	c.305 others(188): Show c.305-2186_305-2185insCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(164): Show CCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTC CCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCC TCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0065 a0001c0005t0002g0065	1	410	0.0024	171	c.-22 others(182): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar

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