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
ZNF658_chr9_66895725_66926426	66911331	GAAAAAAA others(536): Show GAAAAAAATCCACTTGAAAAAATTTTAGTATCTCTTTTAAACAATATACA AAAAAGTGTAATGCAATTTTGGATTTGATTTCTGTAATGAAATAATTGTA ACTGCAAGTTAGAAACCATCAGGTATAGCTAAAGTAGTGGACAGAAGGAA GTTCGTAGTCTCATTAATTAAGCAAGAACAGCATCAAAAATACAATAGTG AAAACAGAAGAATTTAAAAGTAAAATTAAAAATAAAATGGAAAACAGAAA TGGAATGTTTCTTACAAGAAAAATAAAATGAATTAAACTTCAGCTAACCC TATCAAAGAAAAAAGAGAGGAAACACCTATATAATAAATTCAAGTCAGGA TACATCTGTAAAGAGATAACGCTATACCAAACACAATCCCATTCATAAAA ACGAGTGATACAGGAGGATTTGCTGCTCTACCAGATATTGAGGCTTTATG TAAAGTGCTGTGTAGCTAAGTAGCATGGAGCTGGGGGGTGGGATGATTTA GTAAATTAGTGAAACAGAGTAGAAAGTTAAAGAAAAAAACATGA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0199 a0001c0002t0001g0199	1	424	0.0024	-543	c.238 others(17): Show c.238+2598_238+3140del	ZNF658	ENSG00000274349.5	transcript	ENST00000621410.5	protein_coding	4/4			chr9	TogoVar
ANXA2_chr15_60342151_60402986	60366655	ACCCCGTC others(535): Show ACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGG GGGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGGGGAGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCA TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGGGGAGGGGGGGTCAGCCCCCCGTCCGGCCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	334	0.0030	-542	c.149 others(17): Show c.149-2674_149-2133del	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
ATAD2B_chr2_23743664_23932123	23845745	AATTTTTG others(535): Show AATTTTTGTAGTTTTTGTAGAGACTGGGTTTCACTATGTTGGCCAGGCTG GTCTCAAATTCCTGGGCTCAAGCGATCTGCCTGCCTCAGCCTCTCAAAGT GCTGGAATTACAAGCAAGAGTAACTGCACCCCACCTCATGCTGGATCTTA TTAGGGGTAGAAAGATGTTCTAAAATTGATTTATATCAATAGTTGTACCA CTTTGTTGAGGTACTCTAAAAATTACTAAACTATACACTTAAAATGAGCA AATTTTATGACATATAAATATACCTCAATAAAGCTGTTTTGGCCAGACAC AGGAGGGTGAGGCGGGCATATCACTTGAGCCCAGGAGCTTGAGACTAGCC TGGGCAACATGGTGAAACCTTATCACTACTAAAAATTCAAAAAGTGGCTG GGCGCTTTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAG GCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAATATGGTGAAA CCCTGTCTCTGAGACCACAGGCATGCACCACTACACCCAGCTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(131): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00544.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp2 NA18963.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18995.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19074.hp1 NA19079.hp1 NA19083.hp1 NA19086.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0007 a0009 a0010	a0001c0001 a0001c0004 a0001c0008 others(7): Show a0001c0001 a0001c0004 a0001c0008 a0001c0015 a0002c0003 a0004c0007 a0006c0011 a0007c0010 a0009c0014 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0004t0001 a0001c0008t0002 a0001c0015t0002 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0004c0007t0002 a0006c0011t0001 a0007c0010t0002 a0009c0014t0002 a0010c0009t0002	a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0095 others(131): Show a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0095 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0188 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0106 a0001c0001t0005g0058 a0001c0001t0005g0090 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0099 a0001c0001t0009g0002 a0001c0001t0010g0053 a0001c0001t0014g0098 a0001c0001t0015g0246 a0001c0004t0001g0166 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0192 a0001c0008t0002g0003 a0001c0015t0002g0079 a0002c0003t0001g0131 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0003g0132 a0002c0003t0003g0138 a0002c0003t0006g0136 a0002c0003t0006g0137 a0004c0007t0002g0050 a0004c0007t0002g0062 a0006c0011t0001g0189 a0007c0010t0002g0083 a0009c0014t0002g0057 a0010c0009t0002g0004	134	246	0.5447	-542	c.156 others(21): Show c.1568+11128_1569-11668del	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	13/27			chr2	TogoVar
CCZ1_chr7_5893733_5931550	5928874	CCTCGGCC others(535): Show CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAG CCACCTCTTTTTTTTCTATCTTAAGAATTTGGGTTTTCTGATACTTTAAT TTTCCATGTTTCAAGAATAAAAAAACTCGTTTCTCTTGCTTTTTTCTTTT TTTTTTAAAGACAAGCTCTCTATGGCCCAGGCTGGAGTGCAGTGGCATGA CCATGGCTCACTGAAGCCTGGAGGAACTCCTGGGCTCAAGTGATCCTCCT ATCTCAGCCTCCCTAATAGCTGAGAATACAGGCATGTACCACCACACGAG GCTAATTGTTTTAAGTATTACTGTGAGGCAAGATCTTGCTCTGTCATCCA GGCTGGAGTGCAGTGGTACCATCATGGCTCACTGCAGCCTCCAACTCCTG GGCTCAAATGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGG CGGGTGCCACCACACCCAGCTAATTATTATAGAGACAAGGTTTCGCTATG TTGCCCATGGTCTCAAACTCCTGAGCTCTAGTAATCCTCCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0048 a0001c0006t0001g0048	1	114	0.0088	-542	c.31 others(11): Show c.3188_*3729del	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding		2325		chr7	TogoVar
LRRC27_chr10_132327193_132386508	132358418	CAGCGTGG others(535): Show CAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGCGTGGGGAGGAGCCGAGG TGATGGAGCAGCGTGGGGAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGG AGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTG TGGGGAGGAGCCGAGGTGGTGGAGCAGCGTAGGGAGGAGCCGAGGTGGTG GAGCGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGG TGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGGGGAGG AGCCAAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGTG TGGGGAGGAGCCGAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAG CGTGGGAAGGAGCCGAGCTGGTGGAGCAGCGTAGGGAGGAGCCGAGGTGG TGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGC CGAGGTGGTAGAGCAGTGTGGGGAGGAGCCAAGGTGGTGGAGT	C C	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19085.hp2 NA19074.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0045 a0001c0001t0001g0046	2	290	0.0069	-542	c.117 others(19): Show c.1170+2533_1171-2497del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10			chr10	TogoVar
MMGT1_chrX_135955588_135978988	135970259	TGGGAGGC others(535): Show TGGGAGGCTGAGGAAGGATAATTGCTTGAACCTGGGAGGCAGAGGTTGCA ACGAGCCCAGATCGCGTCACTGCATTCCAGCCTGGGCAACAAGAGCAAAA CATTGTCTCAAAAAAAAGAAAAAAAACTAAAACCACTTTCATTTTACCAC CTATGTATGTCCCTAAACAATGTACTGTTGGCTTTATTTCCCTTACATAA AAATGAACTTTTCTAAGAAATAAAGCTAAATAATCAACTTTTTAAGTCCA TCCCATACTATGGACAGAGCATCTTCGAGAAAGACTATTTCGACTACAGC TCTAGAAACCAAATAGAGAAACCTTTCCAAATCTTTGAGCTTTATGAGTG ATGAAAAGTGGAGATCACAGGCCAGGCGCGGTGGCTCACTCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAGGAGATCGAG ACCATCGTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCATGGTGGTGGGCACCTGTAGTCCCAGCTACTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0061 a0001c0001t0019g0061	1	265	0.0038	-542	c.132 others(15): Show c.132+257_132+798del	MMGT1	ENSG00000169446.6	transcript	ENST00000305963.3	protein_coding	2/3			chrX	TogoVar
PCGF3_chr4_700832_775089	731650	TCCCCCGC others(535): Show TCCCCCGCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGC TCCCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGC TCCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCT CCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTC CCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCC CCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCC CCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCC CCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCTC CTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCCCC TCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCCCCT CCCCTCGTGAGTGGGCGTGGTCCTCAGGTTGGTAAGGCGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00558.hp2 others(21): Show HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG01081.hp2 HG01358.hp1 HG02135.hp1 HG04204.hp2 NA18948.hp2 NA18950.hp2 NA18957.hp1 NA18964.hp1 NA18969.hp1 NA18979.hp2 NA18980.hp1 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA19003.hp2 NA19004.hp1 NA19056.hp1 NA19080.hp2 NA19085.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0005 a0001c0003t0010 a0001c0003t0029 others(3): Show a0001c0003t0005 a0001c0003t0010 a0001c0003t0029 a0001c0003t0054 a0001c0003t0056 a0002c0007t0055	a0001c0003t0005g0121 a0001c0003t0005g0122 a0001c0003t0005g0123 others(21): Show a0001c0003t0005g0121 a0001c0003t0005g0122 a0001c0003t0005g0123 a0001c0003t0005g0124 a0001c0003t0005g0125 a0001c0003t0005g0126 a0001c0003t0005g0132 a0001c0003t0005g0133 a0001c0003t0005g0135 a0001c0003t0005g0136 a0001c0003t0005g0137 a0001c0003t0005g0138 a0001c0003t0005g0139 a0001c0003t0005g0141 a0001c0003t0005g0142 a0001c0003t0005g0143 a0001c0003t0010g0127 a0001c0003t0010g0128 a0001c0003t0010g0129 a0001c0003t0029g0130 a0001c0003t0029g0131 a0001c0003t0054g0134 a0001c0003t0056g0314 a0002c0007t0055g0140	24	366	0.0656	-542	c.-10 others(16): Show c.-10+541_-10+1082del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10			chr4	TogoVar
PLB1_chr2_28491060_28649142	28497871	GCCGTGCC others(535): Show GCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAT GTTGGCCAGGCTGGTCTCAAACTCCTAATCTTAAGTGATCTGCCTGCCTC GGCCTCCCAGAGAGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCTT TATTCTTAAGTATATGTATTTTAAATCTTCCTTTATGGTTTGTGCTCTTT GTATCTTAAATAACTCCTCTCCTACCTCGAGGTCATGAAGATATCTTATA TTTCCTTCTAAAAGCTTTATAAATTTACTTTTCTCGTTTAAGTCAATCAC CCTACATCTGGGATTGACTTTTATGAATAGTATATGAGAGGAACCCAATG TTGTTATTATTATTTCTTTTTGAGATAGAGTCTCACTCTGTCACCTAGGC TGGAGGGCAGTGGTGCAATTATGGCTTATTGTAGCTTCAACCTCCCAGGC TCAAGTAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACACACCC ACTCAGGTTATATAATCAAAATATTGTGTTCAGGCACATGCCA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01981.hp2 HG01361.hp2 HG01981.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0006 a0003c0003 a0007c0006	a0003c0003t0001 a0007c0006t0002 a0003c0003t0001 a0007c0006t0002	a0003c0003t0001g0013 a0007c0006t0002g0012 a0003c0003t0001g0013 a0007c0006t0002g0012	2	266	0.0075	-542	c.55+ others(15): Show c.55+1705_55+2246del	PLB1	ENSG00000163803.13	transcript	ENST00000327757.10	protein_coding	1/57		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLD5_chr1_242077986_242529697	242393752	GTATATGA others(535): Show GTATATGAGTATATAAGTATTTTTAGGCAGGGCCGCAGTGGCTCACGCCT GTATTCTCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAAGTCAG GAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAA ATGCAAAAATTAGCTGGGTGTGGGGGTGCGTGCCTGTAATCCCAGCTACT CAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCGGAGGTTGCA GTGAGCTGAGATCACGCCACTGAACTCCAGCCTGGATAAGACGACGACTC CATCTCAAAAAAAAACATATATATATATGAGTATATATATGTATATATGT GTATATATATGAGTATATATATGTGTATATATATGAGTATATATATGTGT ATATATATGAGTATATATATGTGTATATATGAGTATATATGAGTATATAT ATGTGTATATGAGTATATATATGTGTATATATATGAGTATATATATGTGT ATATATATGAGTATGAGTATATATATGTGTATATATATGAGTA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01975.hp2 HG01978.hp1 others(4): Show HG01943.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 NA18965.hp2 NA19002.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0002t0045	a0001c0001t0001g0006 a0001c0001t0001g0076 a0001c0001t0004g0034 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0076 a0001c0001t0004g0034 a0001c0001t0004g0073 a0001c0001t0007g0002 a0001c0001t0010g0079 a0001c0002t0045g0111	7	188	0.0372	-542	c.190 others(19): Show c.190-46052_190-45511del	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PPP2R5C_chr14_101756709_101932977	101782209	CCCCCTCC others(535): Show CCCCCTCCCTCTCTCCTCCCTCTCTCTTTCTCCCCCTTCCCCCTCTCTCC CCCCCTTTCTCCCCATTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCT CCCCCTTCCCCTCCCTCTCCCCCTTCCCCTCCCTCTCTCCCCTTCTCTCT CTCTTTCTCCCCTTCCCTCTCTCTCCCCTCTGGCTCTTTCTCCCCTTCCC TCTCTCTCCCCCCCTTTCTCCCCATTCCCCTCCCTCTCTCCCCCTTCCCC TCCCTCTCTCCCCCTTCCGCTCCCTCTCCCCCTTCCCCTCCCTCTCTTTC CTCTTTCTCTCTCCCCCTCCCCCTCCCTCTCTCCTCCCTCTCTCTTTCTC CCCTTCCCTCTCTCTCCCCCCCTTTCTCCCCATTCCCCTCCCTCTCTCCC CCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCCCCCTTCCCCTCCC TCTCTCCCCTTCTCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCTCTGT CTCTTTCTCCCCCCCTTTCCACTTTCTCTCTTTCTCCCCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02622.hp2 others(10): Show HG02109.hp1 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02735.hp1 HG02886.hp2 HG03471.hp1 HG03579.hp2 HG04115.hp2 NA18963.hp1 NA19066.hp2 NA19240.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 a0001c0003t0002 a0001c0003t0020 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0003g0006 others(10): Show a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0006g0075 a0001c0001t0007g0076 a0001c0001t0019g0116 a0001c0003t0002g0079 a0001c0003t0020g0008 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0004g0073	13	138	0.0942	-542	c.94- others(15): Show c.94-3794_94-3253del	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
RSPH10B_chr7_5921136_5975689	5928874	CCTCGGCC others(535): Show CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAG CCACCTCTTTTTTTTCTATCTTAAGAATTTGGGTTTTCTGATACTTTAAT TTTCCATGTTTCAAGAATAAAAAAACTCGTTTCTCTTGCTTTTTTCTTTT TTTTTTAAAGACAAGCTCTCTATGGCCCAGGCTGGAGTGCAGTGGCATGA CCATGGCTCACTGAAGCCTGGAGGAACTCCTGGGCTCAAGTGATCCTCCT ATCTCAGCCTCCCTAATAGCTGAGAATACAGGCATGTACCACCACACGAG GCTAATTGTTTTAAGTATTACTGTGAGGCAAGATCTTGCTCTGTCATCCA GGCTGGAGTGCAGTGGTACCATCATGGCTCACTGCAGCCTCCAACTCCTG GGCTCAAATGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGG CGGGTGCCACCACACCCAGCTAATTATTATAGAGACAAGGTTTCGCTATG TTGCCCATGGTCTCAAACTCCTGAGCTCTAGTAATCCTCCCAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0002 a0004c0011t0002	a0004c0011t0002g0039 a0004c0011t0002g0039	1	70	0.0143	-542	c.223 others(18): Show c.2234-1022_2234-481del	RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	19/20			chr7	TogoVar
TUBGCP2_chr10_133273635_133313872	133291817	ATGTCCCT others(535): Show ATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAG CCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTC CCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCG GGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCC ATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCG TGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATG TCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCA GCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGT GTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCC TACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0026 a0001c0004t0002g0026	1	284	0.0035	-542	c.121 others(17): Show c.1214+140_1214+681del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ZBTB46_chr20_63738670_63836264	63760715	TCAAAGTG others(535): Show TCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCAGGCCGAGTTATA TCAGTTTTATTATCTTTTCAACACACTGGCTTTGGGCATTGTTCACTTTC GGTTTTGGGGTTTGCCCAGGCTGGAATGCAGCAGTGCAATCATAGCTCAC TGTAACCTTAAACTCCTTGGCCTCAAGCGAGCCTTCTGACTTAACCTCCC GAAGTGCTGGGATTACAGGTGTGCACCACCATGCCAGCTACACTGTTGAT TTTTGTATGCCTGCTTTCTACTTCATTGATAGCTCTTTTTTTTTTTTTTT TTCAGATGGAGTCTCGTTCTGACATCCAAGCTGGTGTGTGGTGCCATGAT CTCGGCTCGCTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCGGCTA ATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGACTGG TCTCGAACTCCTGACCTCAAGTGATTGACGCACTTCAGCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01257.hp1 HG02004.hp2 others(5): Show HG00741.hp1 HG01257.hp1 HG02004.hp2 HG03041.hp2 HG03654.hp1 HG04228.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0020 a0002c0003 others(1): Show a0001c0001 a0001c0020 a0002c0003 a0002c0024	a0001c0001t0012 a0001c0020t0012 a0002c0003t0009 others(2): Show a0001c0001t0012 a0001c0020t0012 a0002c0003t0009 a0002c0003t0018 a0002c0024t0013	a0001c0001t0012g0065 a0001c0001t0012g0190 a0001c0020t0012g0116 others(5): Show a0001c0001t0012g0065 a0001c0001t0012g0190 a0001c0020t0012g0116 a0002c0003t0009g0301 a0002c0003t0009g0302 a0002c0003t0018g0305 a0002c0003t0018g0306 a0002c0024t0013g0308	8	316	0.0253	-542	c.122 others(19): Show c.1223-8396_1223-7855del	ZBTB46	ENSG00000130584.12	transcript	ENST00000245663.9	protein_coding	3/4			chr20	TogoVar
C1orf159_chr1_1076823_1121089	1099203	GTTGTCTA others(534): Show GTTGTCTATTGATGTTTTTGGTCTATTGTTCTAAGAATCAGAGAGAGAGA GAGGTTAAAATCTCCGACTATGATTGTGGGTTGTCTTATTGATGTTTTTG GTCTATTGTTCTAAGAATTGGAGACAGAGAGGTTACAATCTCTGACTATG ATTGTGGATTGTCTATTGATGTTTTTGGTCTATTCTAAGAATTGGAGAGA GAGAGGTTAAAATCTCCGACTATGATTGTGCGTTGTCTATTGATGTTTTT GGTCGATTGTTCTAAGAATTGCAGAGAGAGAGGTTAAAATCTCCGACTAT GATTGTGTATTGTCTATTGATGTTTTTGGTCTATTGTTCTAAGAAATGGA GAGAGAGAGGTTAAAATCTCCGACTATGATTGTGGGTTGTCTATTGATGT TTTTGGTCTATTGTTCTAAGAATTGGAGAGAGAGAGGTTAAAATCTCTGA CTATGATTGTGGATTGTCTGCTGATGTTTTTGGTCTATTGTTCTAAGAAT TGGAGAGAGAGAGAGGTTAAAATCTCCGACTATGATTGTGGA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	326	0.0031	-541	c.-13 others(19): Show c.-135-7641_-135-7101del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding	1/9			chr1	TogoVar
CD200R1L_chr3_112810711_112851864	112837703	GAAGGTGC others(534): Show GAAGGTGCTGTAAGTTTTCTTCTTTTTAGCTTCTATTTTTGTGTGCTACT AAGAAATCTACATGTTTGCTTTTTGTTGTTGAATTAAATTGAATAAGTCG GTCCTTGCTTGGTCTTCAAGCAATAGTGTGCAGAGAGGTATCTGTTAAAA TTGCACACAGGACAAATGATCATGTAAATGTTTCTGCTGATGATCCAACC CTCCCATCAAACTGGTTATTAAGTAAGTGAGCATTTTACCTTCATTAAGA CGTATTCTCTAACTTTGTATTTCCAGTTGTGTCATCAGACAGGAATTATT ATCTGAGGCTAGAAAATATTTAAAGAAGAAATATGGAGAAAATTAAGAAC TTTTCTTTACTGAAATGGACTAGAATCCACTGATTTCATATAAGATAATC ACAGAAAACAACATTTCAATTCCTTAAATTAATTAATAATCACACCAAAA AAACCTCTACATAAAAGAAATCAGCAGTGAGACCATAACTAGATAAATGC ACGTATGTCAGGATTTTGACATTTCTTTTGTAGTTATGAATA	G G	splice_acceptor_variant others(5): Show splice_acceptor_variant splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG01106.hp1 HG02723.hp2 HG02976.hp2 others(4): Show HG01106.hp1 HG02723.hp2 HG02976.hp2 HG03225.hp1 HG03453.hp2 NA18522.hp1 NA19043.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0005 a0002c0003 a0004c0005	a0002c0003t0004 a0004c0005t0004 a0002c0003t0004 a0004c0005t0004	a0002c0003t0004g0136 a0004c0005t0004g0014 a0004c0005t0004g0135 a0002c0003t0004g0136 a0004c0005t0004g0014 a0004c0005t0004g0135	7	408	0.0172	-541	c.-86 others(15): Show c.-86-234_-18+238del	CD200R1L	ENSG00000206531.12	transcript	ENST00000488794.6	protein_coding	3/8			chr3	TogoVar
ERBB4_chr2_211370717_212543802	211733438	CTGCGTAA others(534): Show CTGCGTAAGAATACCATAGTATTTTTAAGAATATTTTTAAAAATTAGAAT TGAGGTCTGCACCTTAAAATCTGCCTATAAATGATAGGCTGCAGATAAAG TAGTAAAAAAAAGTCATAATTATATCATAGATCTTTCATAAACCAAGAAA TATGGAAAATTTGGTATTCAAATTTTTTAAATCACTGTGCATTATAACAG ACATCTCCACATCTAACCTGATAGAAAAACAAACAAAAACCAAAAAAAAA AAATTTACTTTCTTTCTTTTGCTTATTCTAGTTCCCTATCCAAAATATTA GTAGAAGAAAACAAATATAATCTCTCTCTCACTCAATTTTGCAATAAAAA TACCCACAGAAGGGCCAGGAGTGGTGGCTCACACCTATACACCTAGCATT TGGGAGGCAGAGGCAGGCGGATCACTTGAGGCCAGGAGTTCAAGACCAGC CTGGCCAACATGAAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCC AGGCAGAGGAAGGAGAATCATTTGAACCCGGGAGACTGAGGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02965.hp2 NA18522.hp1 others(1): Show HG02145.hp2 HG02965.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0027 others(1): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0027 a0001c0001t0029	a0001c0001t0004g0011 a0001c0001t0011g0042 a0001c0001t0027g0055 others(1): Show a0001c0001t0004g0011 a0001c0001t0011g0042 a0001c0001t0027g0055 a0001c0001t0029g0054	4	56	0.0714	-541	c.623 others(17): Show c.623-8785_623-8245del	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	5/27			chr2	TogoVar
LHPP_chr10_124456823_124619141	124507284	GGGTAGGG others(534): Show GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG ATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATA GGGAGTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAG ACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGG AGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	260	0.0039	-541	c.624 others(17): Show c.624+9159_625-9353del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBTPS1_chr16_84048763_84121942	84051105	GCCGCATG others(534): Show GCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTGCTTAAGGAGAG CTGCAAGGCCGCATGTGGGTAAGGAGAGCTACAAGGCCGCATATAGGTAA GGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCACATG TGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGC CGCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCT GCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATGTGGGTAAG GAGAGCGGCAAGGCCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATG TGCGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGC CGCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCT GCAAGGCCGCATGTGAGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGG AGAGCTGCAAGGCCCACATGTGGGTAAGGAGAGTGGCAAGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02717.hp2 HG02486.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0194 a0001c0001t0006g0197 a0001c0001t0006g0194 a0001c0001t0006g0197	2	424	0.0047	-541	c.28 others(11): Show c.2803_*3343del	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2657		chr16	TogoVar
SRGAP2B_chr1_144882288_145100328	144883328	AAAGCCAC others(534): Show AAAGCCACAGCGGCGCGGGGGAAAAAGCCGTGGCGGGCAGAAAGGCGCGG CGGCGTGGGGGAAAAAGCCGCGGCGTTGGGGGCAAAAAGCCGCGGTGGCG GGGGGGCAAAAAGCTGCGGTGGCGGGGGGGCAAAAAGCCGTGACCGGCAA AAAGCCGTGGTGGCGGGGAACAAAAAGCCGCGGCGGCGGGGGCGGGCAAA AAGCCGGGGCGGGCAAAACCCCGAGGCGCCGTGGGGGCAAAAAGCCGGGG CGGGCAAAAAGCCGGGGCGGGCAAAAACCCGCGGCGGCGGTGGGGCAAAA AGCTGGAGCGGGTAAAAAGCCGCGGCAACAAAAAGCCTCGGCGGCGGGGG CGCAAAAAGCCGCGGTGGGCATAAACCCGAGGCGGCGGGGGGGGGGGGGT GCAAAAAACCGCCGTGGGGAAAAAGCCGCGGCGGTGGGGGGCAAAATCCC GCGGCGGGCAAAAAGCCGCGGCGGCGAGGGGGGTCACAACAAAGCCGCGG CGGGCAAAAAGCCGAGGCGGGGTGGGGGGGGGGGAGGGGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	56	0.0179	-541	c.82 others(11): Show c.8291_*8831del	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3959		chr1	TogoVar
VIPR2_chr7_159023175_159149867	159101140	AGTCTCAT others(534): Show AGTCTCATGAGATCCGACGAGGCCGTTCCCCCGACTGTTCCTGTGATAGT GAACGGGTCTCACGAGATCCGACGAGGCCGTTCCCCCGACTGTTCCTGTG ATAGTGAACGGGTCTCACGAGATCCGATGAGGCGGTTCCCCCGACTGTTC CTGTGATAGTGAACGGGTCTCACGAGATCCGACGAGGCGGTTCCCCTGAC TGTTCCTGTGGTAGTGAACGGGTCTCACGAGATCCGACGAGGCGGTTCCG ACCGTTCCTGTGGTAGTGAACGGGTCTCACGAGATCCGACGAGGCGGTTC CGACTGTTCCTGTGGTAGTGAATGAGTCTCACGAGATCCGACAAGGCCGT TCCCCCGACCGTTCCTGTGGTAGTGAACGGGTCTCACGAGATCCGACGAG GCGGTTCCCCTGACTGTTCCTGTGGTAGTGAACGGGTCTCACGAGATCCG ACGAGGCGGTTCCGACCGTTCCTGTGGTAGTGAACGGGTCTCACGAGATC CGACGAGGCCGTTCCCCCGACTGTTCCTGTGGTAGTGAACGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0070 a0001c0002t0044g0070	1	336	0.0030	-541	c.357 others(17): Show c.357+2076_357+2616del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
BOP1_chr8_144257045_144296438	144281024	TCTCACTT others(533): Show TCTCACTTTAATACCAGGTCTTAGGCCTTCTCTCACTTTCATACCAGGTC TTCGGCCTTCTCTCACTTTAATACCAGGTCTTCGGCCTTCTCTCAGTTTA ATACCAGGTCTTAGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTC CCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTC TTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTA ATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTC TCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTC TTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTC ATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTC TCTCACTTTCATACCAGGTCTTTGGCCTTCCCTCAGTTTAATACCAGGTC TTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18960.hp1 NA18967.hp1 others(1): Show HG00558.hp1 NA18960.hp1 NA18967.hp1 NA18994.hp2	a0001 a0007 a0012 a0001 a0007 a0012	a0001c0001 a0007c0030 a0012c0018 a0001c0001 a0007c0030 a0012c0018	a0001c0001t0001 a0007c0030t0001 a0012c0018t0001 a0001c0001t0001 a0007c0030t0001 a0012c0018t0001	a0001c0001t0001g0191 a0001c0001t0001g0251 a0007c0030t0001g0376 others(1): Show a0001c0001t0001g0191 a0001c0001t0001g0251 a0007c0030t0001g0376 a0012c0018t0001g0367	4	398	0.0101	-540	c.310 others(17): Show c.310-5260_310-4721del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
CHL1_chr3_191763_414417	261991	CACAGGGC others(533): Show CACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAG GGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAG GATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTC ACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACG TTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAA GCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTA GATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCT ACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACA GTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACT CACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAG GGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG02615.hp1 others(16): Show HG01243.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03209.hp2 HG03486.hp1 HG03540.hp2 HG06807.hp1 NA19030.hp1 NA19240.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0011 a0020	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0008 a0007c0006 a0008c0007 a0011c0011 a0020c0023	a0001c0001t0006 a0001c0001t0016 a0001c0001t0018 others(16): Show a0001c0001t0006 a0001c0001t0016 a0001c0001t0018 a0001c0001t0037 a0002c0002t0002 a0002c0002t0004 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0006 a0003c0003t0027 a0004c0004t0006 a0004c0004t0030 a0006c0008t0012 a0007c0006t0051 a0008c0007t0001 a0008c0007t0012 a0011c0011t0002 a0020c0023t0017	a0001c0001t0006g0097 a0001c0001t0016g0100 a0001c0001t0018g0264 others(16): Show a0001c0001t0006g0097 a0001c0001t0016g0100 a0001c0001t0018g0264 a0001c0001t0037g0238 a0002c0002t0002g0250 a0002c0002t0004g0010 a0003c0003t0001g0106 a0003c0003t0003g0014 a0003c0003t0004g0009 a0003c0003t0006g0107 a0003c0003t0027g0087 a0004c0004t0006g0088 a0004c0004t0030g0099 a0006c0008t0012g0094 a0007c0006t0051g0147 a0008c0007t0001g0289 a0008c0007t0012g0101 a0011c0011t0002g0098 a0020c0023t0017g0287	19	290	0.0655	-540	c.-95 others(19): Show c.-95+17363_-95+17902del	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL23A1_chr5_178232618_178595393	178525070	AGGACCCG others(533): Show AGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCAGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCAGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCAGGACCCGAA GGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCC GGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCAGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG03041.hp2 others(1): Show HG02451.hp1 HG02723.hp1 HG03041.hp2 HG03453.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0005 a0004c0006 a0001c0001 a0003c0005 a0004c0006	a0001c0001t0005 a0003c0005t0003 a0004c0006t0003 a0001c0001t0005 a0003c0005t0003 a0004c0006t0003	a0001c0001t0005g0133 a0003c0005t0003g0127 a0004c0006t0003g0139 others(1): Show a0001c0001t0005g0133 a0003c0005t0003g0127 a0004c0006t0003g0139 a0004c0006t0003g0143	4	236	0.0170	-540	c.361 others(19): Show c.361+35072_361+35611del	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178525190	GGGACCCG others(533): Show GGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCAGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCAGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCAGGACCCGAA GGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCC GGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCAGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0113	1	236	0.0042	-540	c.361 others(19): Show c.361+34952_361+35491del	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
CYP4F11_chr19_15907377_15939529	15931529	GGAATGAG others(533): Show GGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGA GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0157 a0002c0001t0157	a0002c0001t0157g0166 a0002c0001t0157g0166	1	386	0.0026	-540	c.198 others(17): Show c.198+2142_199-1929del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931609	GGAATGAG others(533): Show GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGA GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0110 a0001c0008t0110	a0001c0008t0110g0370 a0001c0008t0110g0370	1	386	0.0026	-540	c.198 others(17): Show c.198+2062_199-2009del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932009	GGAATGAG others(533): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGA GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTG AGTGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGA GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTG AGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0151 a0003c0003t0151	a0003c0003t0151g0072 a0003c0003t0151g0072	1	386	0.0026	-540	c.198 others(17): Show c.198+1662_198+2201del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932461	CGGGGAGA others(533): Show CGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0302 a0001c0002t0003g0302	1	386	0.0026	-540	c.198 others(17): Show c.198+1210_198+1749del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932463	GGGAGAGG others(533): Show GGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0168 a0002c0001t0168	a0002c0001t0168g0360 a0002c0001t0168g0360	1	386	0.0026	-540	c.198 others(17): Show c.198+1208_198+1747del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932529	AGAATGAG others(533): Show AGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG01109.hp2 HG02109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0040 a0001c0006t0108 a0001c0006t0040 a0001c0006t0108	a0001c0006t0040g0127 a0001c0006t0108g0128 a0001c0006t0040g0127 a0001c0006t0108g0128	2	386	0.0052	-540	c.198 others(17): Show c.198+1142_198+1681del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933325	GAGAAGAA others(533): Show GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19055.hp2 HG02486.hp1 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0009 a0001c0008t0041 a0001c0002t0009 a0001c0008t0041	a0001c0002t0009g0295 a0001c0008t0041g0372 a0001c0002t0009g0295 a0001c0008t0041g0372	2	386	0.0052	-540	c.198 others(15): Show c.198+346_198+885del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DACT2_chr6_168301904_168324777	168316705	ATGTGTGT others(533): Show ATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAG AAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACC TCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAG GTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTC GGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGC TGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAA CAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCT GTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCA AACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACG TCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTG TCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03831.hp2 HG02074.hp1 HG03831.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0004 a0003c0004t0004 a0002c0002t0004 a0003c0004t0004	a0002c0002t0004g0153 a0003c0004t0004g0156 a0002c0002t0004g0153 a0003c0004t0004g0156	2	476	0.0042	-540	c.246 others(17): Show c.246+2143_246+2682del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DLGAP2_chr8_732628_1713476	991547	GCCCGGAC others(533): Show GCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCTCCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTC CTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGA GTTCCTGTTCTTCTCTCCCCCCTTGCCCAGACCCCCTGCACCCCCATACT CGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCA TACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACC CCCATACTCGGAGTTCCTGTTCTTCTCTCCCCCCTTGCCCAGACCCCCTG CACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-540	c.73+ others(17): Show c.73+83639_73+84178del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1097015	AAGCTGGG others(533): Show AAGCTGGGAGCCCGGGGCAGGCCTTCACCCTATGTGGCATGGAGAGGTCC CCTCCAGTGTGAGACCCACCTCCCTGTGCTCAGGAGAGTCAAGCTGGGAG CCCAGGGCAGGCCTTCACCCTCTGTGGCATGCAGAGGTCCCCTCCAGCGT GAGACCCAGCTCCCTCTGCTCAGGAGAGTCGAGCTGGGAGCCTAGGGCAG GCCTTCACCCTCTGTGGCATGGAGAGGTCCCCTCCAGCGTGAGACCCAGC TCCCTCTGCTCAGGAGAGTCCAGCTGGGAGCCCGGGGCAGGCCTTCACCC TCTGTGGCATGGAGGGGACCCCTCCAGCGTGAGACCCACGTCCCTGTGCT CAGTAGAGTGGAGCTGGGAGCCCGGGGCAGGCCTTCACCCTCTGTGGCAT GGAGAGGACCCCTCCAGCGTGAGACCCACCTCCCTGTGCTCAGGAGAGTC AAGCTGGGAGCCTAGGGCAGGCCTTCACCCTCTGTGGCATGGAGAGGTCC CCTCCAGCGTGAGACCCACCTCCCTCTGCTCAGTAGAGTGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02258.hp2 HG01891.hp1 HG01891.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0014 a0001c0003t0024 a0001c0003t0006 a0001c0003t0014 a0001c0003t0024	a0001c0003t0006g0033 a0001c0003t0014g0020 a0001c0003t0024g0003 a0001c0003t0006g0033 a0001c0003t0014g0020 a0001c0003t0024g0003	3	40	0.0750	-540	c.74- others(19): Show c.74-161805_74-161266del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1375129	ACCTCTCC others(533): Show ACCTCTCCACGACCTCAGAACTGATCCCCCACCTCCTACATTTGGGTTAA CGACCCCTCTCCACGGCCTCAGAACTGATCCCCCACCTCCTACATTTGGG TTAACGACACCTCTCCACGACCTCAGAACTGAGCCCCCACCTCCTACATT TGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTA CATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCT CCTACATTTGGGTTAACGACACCTCTCCACGACCTCAGAACTGATCCCCC ACCTCCTACATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAGC CCCCACCTCCTACATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACT GAGCCCCCACCTCCTACATTTGGGTTAACGACACCTCTCCACGGCCTCAG AACTGAGCCCCCACCTCCTACATTTGGGTTAACGACATCTCTCCACGGCC TCAGAACTGAGCCCCCACCTCCTACATTTGGGTTAACGACC	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	-540	c.106 others(21): Show c.106+116257_106+116796del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1375248	ACCTCAGA others(533): Show ACCTCAGAACTGAGCCCCCACCTCCTACATTTGGGTTAACGACACCTCTC CACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGGGTTAACGACACC TCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGGGTTAACGA CACCTCTCCACGACCTCAGAACTGATCCCCCACCTCCTACATTTGGGTTA ACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGG GTTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACAT TTGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCT ACATTTGGGTTAACGACATCTCTCCACGGCCTCAGAACTGAGCCCCCACC TCCTACATTTGGGTTAACGACCCCTCTCCACGGCCTCAGAACTGAGCCCC CACCTCCTACATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAG CCCCCACCTCCTACATTTGGGTTAACGACATCTCTCCACGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	-540	c.106 others(21): Show c.106+116517_106+117056del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1375453	ACCTCTCC others(533): Show ACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGGGTTAA CGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGGG TTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATT TGGGTTAACGACATCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTA CATTTGGGTTAACGACCCCTCTCCACGGCCTCAGAACTGAGCCCCCACCT CCTACATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCC ACCTCCTACATTTGGGTTAACGACATCTCTCCACGGCCTCAGAACTGAGC CCCCACCTCCTACATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACT GAGCCCCCACCTCCTACATTTGGGTTAACGACACCTCTCCACGGCCTCAG AACTGAGCCCCCACCTCCTACATTTGGGTTAACGACATCTCTCCACGGCC TCAGAACTGAGCCCCCACCTCCTACATTTGGGTTAACGACC	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	-540	c.106 others(21): Show c.106+116689_106+117228del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
FBLN7_chr2_112133385_112193218	112139265	CGTCCCTC others(533): Show CGTCCCTCCCGCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGG CCAGCGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTC CAGGTCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCGCCTC TCTCCAGGCCAGTGTCCCTCACGCCTCTCTCCAGGTCAGTGTCCCTCCCG CCTCTCTCCAGGCTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCT CCCGCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGT CCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGGCTA GTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCAG GTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCT CCACGCCAGTGTCCCTCCCGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCT CTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	346	0.0029	-540	c.75+ others(14): Show c.75+558_75+1097del	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNS_chr16_88808734_88861947	88831205	CGAGGAGA others(533): Show CGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTG AGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGG GTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGA GAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCG AGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGT GGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGG TGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACG GGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAG GAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGC CGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGC GTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19030.hp2 HG02055.hp1 NA19030.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0133 a0004c0005t0001g0251 a0004c0005t0001g0133 a0004c0005t0001g0251	2	404	0.0050	-540	c.100 others(17): Show c.1002+253_1002+792del	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831270	TGCGTGGG others(533): Show TGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAG AGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGA GCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTG GGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGT GAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGG GGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGG AGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCC GAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCG TGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCG GTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCAC GGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02451.hp1 others(6): Show HG02109.hp1 HG02280.hp2 HG02451.hp1 HG02622.hp2 HG02818.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03579.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0166 a0004c0005t0001g0170 a0004c0005t0001g0171 others(6): Show a0004c0005t0001g0166 a0004c0005t0001g0170 a0004c0005t0001g0171 a0004c0005t0001g0199 a0004c0005t0001g0200 a0004c0005t0001g0372 a0004c0005t0001g0373 a0004c0005t0001g0374 a0004c0005t0001g0389	9	404	0.0223	-540	c.100 others(17): Show c.1002+188_1002+727del	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
INPP5A_chr10_132532787_132788480	132771832	GCACTCAG others(533): Show GCACTCAGCACTGACACGGAGGCCACAGCAGCCACCCCGCGAAGAGTGGG ACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAGAG TGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCACGA GGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCG ATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACAGCAGCCA CCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCA GCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCAC AGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGG CCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACA GAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGA CACAGAGGCCACAGCAGCCACCCCATGAAGAGTGGGACGGA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03579.hp2 HG02738.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0017 a0002c0002t0004 a0001c0001t0017 a0002c0002t0004	a0001c0001t0017g0182 a0002c0002t0004g0203 a0001c0001t0017g0182 a0002c0002t0004g0203	2	204	0.0098	-540	c.978 others(17): Show c.978-5813_978-5274del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132771874	AGAGTGGG others(533): Show AGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCG ATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCA CCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCA GCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCAC AGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGG CCACGGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACA GAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGA CACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCA CTGACACAGAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGACACTC AGCACTGACACAGAGGCCACAGCAGCCACCCCATGAAGAGTGGGACGGAC ACTCAGCACTGACACGGAGGCCACGGCAGCCACCCCACGAG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	204	0.0049	-540	c.978 others(17): Show c.978-5759_978-5220del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79808207	GCTGACCA others(533): Show GCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGAAGCTG CCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGA GTCCGCGCTCTGAGAAGCTGCCGGGGACACACTGACCACACTCCACGTTA TGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACA CTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTC GCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTG CCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGA GTCCGCGCTCTGAGAAGCTGCCGGGGACACACTGACCACACTCCACGTTA TGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACA	G G	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	1	312	0.0032	-540	c.-11 others(21): Show c.-115+10237_-115+10776del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808379	GGGGACAC others(533): Show GGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTG AGGAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGT CCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATG GGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACT CCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGC TGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGAAGCTGCC GGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTG AGGAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGT CCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATG GGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACT CCACGTTATGGGCCCAGAGTCCGCGCTCTGAGAAGCTGCCA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01433.hp1 NA20129.hp2 HG01106.hp2 HG01433.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0034 a0002c0002t0002g0033 a0002c0002t0002g0311 a0001c0001t0001g0034 a0002c0002t0002g0033 a0002c0002t0002g0311	3	312	0.0096	-540	c.-11 others(21): Show c.-115+10429_-115+10968del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
MIER2_chr19_300573_349796	324064	GACACACA others(533): Show GACACACACAACCACGCAGACGACTCAAAGGACATAGGCGTCATCACAAT GCAATAAAGACACAACCACACAGACGACTCGAATGACACAGGCGTCATCA CAATGCAATACACAGGACACACACAACCACGCAGACGACTCGAATGACAC AGACGTCATCACAATGCAATACACAAGACACACACAACCACGCAGACAAC TCGAATGACACAGGTGTCATCACAATGCAATACACAAGACACACACAACC ACGCAGACAACTCGAATGACACAGACGTCATCACAATGCAATACACAGGA CACACACAACCACACAGACGACTCGAATGACACAGGCGTCATCACAATGC AATAAAGACACACACAACCACGCAGACGACTCGAATGACACAGACGTCAT CACAATGCAATACACAAGACACACACAACCACGCAGATGACTCGAAGGAC ACAGACGTCATCACAATGCAATAAAGACACACACAACCACACAGACGACT CGAATGACACAGACGTCATCACAATGCAATACACAAGACAC	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp2 HG01106.hp1 others(47): Show HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01361.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG02004.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG04115.hp2 NA18522.hp2 NA18941.hp2 NA18951.hp2 NA18961.hp2 NA18971.hp2 NA18975.hp2 NA18992.hp2 NA18995.hp2 NA19030.hp2 NA19081.hp2 NA19090.hp2 NA20752.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0001c0003 a0001c0005 others(4): Show a0001c0002 a0001c0003 a0001c0005 a0001c0014 a0001c0027 a0002c0015 a0008c0026	a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0001c0005t0002 a0001c0014t0002 a0001c0027t0001 a0002c0015t0003 a0008c0026t0002	a0001c0002t0001g0220 a0001c0002t0002g0089 a0001c0002t0002g0090 others(45): Show a0001c0002t0001g0220 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0225 a0001c0002t0002g0228 a0001c0003t0002g0014 a0001c0003t0002g0131 a0001c0003t0002g0132 a0001c0003t0002g0133 a0001c0003t0002g0134 a0001c0003t0002g0135 a0001c0003t0002g0136 a0001c0003t0002g0137 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0141 a0001c0003t0002g0142 a0001c0003t0002g0143 a0001c0003t0002g0166 a0001c0005t0002g0012 a0001c0005t0002g0109 a0001c0005t0002g0110 a0001c0005t0002g0111 a0001c0005t0002g0112 a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0027t0001g0140 a0002c0015t0003g0224 a0002c0015t0003g0229 a0008c0026t0002g0108	50	384	0.1302	-540	c.655 others(17): Show c.655+1031_655+1570del	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	7/13			chr19	TogoVar
MRPS9_chr2_105033069_105104960	105054579	ACCCCTTT others(533): Show ACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTAT CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGG	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	394	0.0025	-540	c.315 others(17): Show c.315+5675_315+6214del	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
PCMTD2_chr20_64250748_64281226	64270929	TACGTACA others(533): Show TACGTACAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCGTT GTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTT CGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGG TGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGT GAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGC ATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAA GGGCATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGA GGAAGGGCATGTGAGGTGTTCGTTGTGAGACGTACAATGGTACAGTCCTT CTGAGGAAGGGCATGTGAGGTGTTCGTTGTGAGACGTACAATGGTACAGT CCTTCTGAGGAAGGGCATGTGAGGTGTTCGTTGTGAGACGTACAATGGTA CAGTCCTTCTGAGGAAGGGCATGTGAGGTGTTCGTTGTGAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp1 HG02622.hp1 others(14): Show HG02258.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03139.hp1 HG03225.hp1 HG03540.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0021	a0001c0001t0004g0011 a0001c0001t0004g0045 a0001c0001t0004g0060 others(7): Show a0001c0001t0004g0011 a0001c0001t0004g0045 a0001c0001t0004g0060 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0007g0024 a0001c0001t0007g0115 a0001c0001t0008g0044 a0001c0001t0008g0060 a0001c0001t0021g0110	17	332	0.0512	-540	c.707 others(17): Show c.707-2257_707-1718del	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
RASA3_chr13_113972783_114137623	114083770	ACGGGGAA others(533): Show ACGGGGAAGTGGTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGA AATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGA GTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGGTGAGTC TGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTG AGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02300.hp2 others(4): Show HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02723.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0028 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0005g0023	7	67	0.1045	-540	c.56- others(16): Show c.56-10473_56-9934del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114086399	GTCCTCGC others(533): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAG TGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCACGGG GAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCC CGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAA ATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0029 a0002c0004t0004g0029	1	67	0.0149	-540	c.56- others(17): Show c.56-13102_56-12563del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114086416	CCGGGGAA others(533): Show CCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCC TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGA GTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTC TGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTG AGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	67	0.0149	-540	c.56- others(17): Show c.56-13119_56-12580del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar

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Search Results (Total: 10000 hits)