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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Select column to sort.

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Results per page.

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
ASMT_chrX_1610059_1648081	1637186	GTCCTGTG others(1309): Show GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGA CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGA CGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTG AGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGC ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT CCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTT CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA GCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTC	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA21309.hp1 NA21309.hp2 HG03540.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0003t0001g0171 a0002c0002t0001g0074 a0001c0001t0001g0006 a0001c0003t0001g0171 a0002c0002t0001g0074	3	223	0.0135	-1316	c.910 others(16): Show c.910+669_910+1984del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
TF_chr3_133741393_133801641	133784922	TAACAATA others(1309): Show TAACAATACTATTTTTTAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGT GGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGA CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCTGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCACGCCCGGCC AGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCC AGTGGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCGTCCGGGAGGGAGA GTGGGGGGTCAGCCCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTG AGGGGCGCCTCTGCCCAGCCACCACCCGGTCTGGGAGGTGTGCCCAACAG CTCATTGAGAACGGGCCAGGATGACAATGGCGGCCTTGTGGAATAGAAAG GCGGGAAAGGCGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGT GTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAA AAATTCCTCTGTCTTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCC TGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAG GGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTC GTTAAGAGTCATCGCCAATCCCTAATCTCAAGTAATCAGGGACACAAACA CTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTT CACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCC AAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAAT TAAAAAAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00544.hp2 others(126): Show HG00099.hp1 HG00140.hp2 HG00544.hp2 HG00558.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02630.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19083.hp1 NA19088.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0022 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(74): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0026 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0215 a0001c0001t0216 a0001c0001t0217 a0001c0001t0218 a0001c0001t0219 a0001c0001t0220 a0001c0001t0221 a0001c0001t0222 a0001c0001t0223 a0001c0001t0225 a0001c0001t0227 a0001c0001t0228 a0001c0001t0229 a0001c0001t0230 a0001c0001t0231 a0001c0001t0232 a0001c0001t0233 a0001c0001t0234 a0001c0001t0235 a0001c0001t0236 a0001c0001t0238 a0001c0001t0239 a0001c0001t0240 a0001c0001t0241 a0001c0001t0242 a0001c0001t0243 a0001c0001t0244 a0001c0001t0245 a0001c0001t0246 a0001c0001t0247 a0001c0001t0250 a0001c0001t0251 a0001c0001t0254 a0001c0001t0255 a0001c0001t0256 a0001c0001t0257 a0001c0001t0258 a0001c0001t0259 a0001c0001t0263 a0001c0003t0007 a0001c0003t0011 a0001c0003t0055 a0001c0003t0057 a0001c0003t0122 a0001c0003t0123 a0001c0003t0124 a0001c0003t0125 a0001c0003t0126 a0001c0003t0224 a0001c0003t0237 a0001c0003t0248 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0006 a0001c0004t0008 a0001c0004t0020 a0001c0004t0053 a0001c0004t0170 a0001c0004t0171 a0002c0022t0101 a0003c0008t0209	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(107): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0232 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0014 a0001c0001t0002g0031 a0001c0001t0002g0092 a0001c0001t0002g0183 a0001c0001t0005g0003 a0001c0001t0005g0020 a0001c0001t0005g0034 a0001c0001t0005g0252 a0001c0001t0006g0002 a0001c0001t0006g0012 a0001c0001t0006g0077 a0001c0001t0006g0093 a0001c0001t0008g0003 a0001c0001t0008g0064 a0001c0001t0008g0065 a0001c0001t0011g0003 a0001c0001t0011g0020 a0001c0001t0026g0246 a0001c0001t0026g0247 a0001c0001t0026g0253 a0001c0001t0050g0002 a0001c0001t0050g0251 a0001c0001t0051g0083 a0001c0001t0051g0085 a0001c0001t0052g0076 a0001c0001t0052g0086 a0001c0001t0053g0002 a0001c0001t0054g0038 a0001c0001t0055g0101 a0001c0001t0057g0102 a0001c0001t0058g0244 a0001c0001t0058g0245 a0001c0001t0215g0021 a0001c0001t0216g0105 a0001c0001t0217g0021 a0001c0001t0218g0021 a0001c0001t0219g0104 a0001c0001t0220g0002 a0001c0001t0221g0074 a0001c0001t0222g0002 a0001c0001t0223g0072 a0001c0001t0225g0002 a0001c0001t0227g0002 a0001c0001t0228g0005 a0001c0001t0229g0005 a0001c0001t0230g0034 a0001c0001t0231g0210 a0001c0001t0232g0098 a0001c0001t0233g0080 a0001c0001t0234g0002 a0001c0001t0235g0003 a0001c0001t0236g0100 a0001c0001t0238g0067 a0001c0001t0239g0091 a0001c0001t0240g0014 a0001c0001t0241g0014 a0001c0001t0242g0099 a0001c0001t0243g0052 a0001c0001t0244g0215 a0001c0001t0245g0054 a0001c0001t0246g0002 a0001c0001t0247g0002 a0001c0001t0250g0073 a0001c0001t0251g0002 a0001c0001t0254g0003 a0001c0001t0255g0033 a0001c0001t0256g0106 a0001c0001t0257g0002 a0001c0001t0258g0249 a0001c0001t0259g0082 a0001c0001t0263g0248 a0001c0003t0007g0015 a0001c0003t0007g0043 a0001c0003t0007g0176 a0001c0003t0011g0047 a0001c0003t0055g0047 a0001c0003t0057g0109 a0001c0003t0122g0171 a0001c0003t0123g0115 a0001c0003t0124g0156 a0001c0003t0125g0157 a0001c0003t0126g0015 a0001c0003t0224g0217 a0001c0003t0237g0240 a0001c0003t0248g0208 a0001c0004t0001g0016 a0001c0004t0001g0202 a0001c0004t0002g0214 a0001c0004t0005g0016 a0001c0004t0006g0206 a0001c0004t0008g0016 a0001c0004t0008g0207 a0001c0004t0020g0001 a0001c0004t0020g0186 a0001c0004t0053g0016 a0001c0004t0170g0001 a0001c0004t0171g0189 a0002c0022t0101g0143 a0003c0008t0209g0026	129	402	0.3209	-1316	c.63 others(11): Show c.6319_*7634del	TF	ENSG00000091513.16	transcript	ENST00000402696.9	protein_coding	17/17	6319	INFO_REALIGN_3_PRIME	chr3	TogoVar
TRIP13_chr5_887884_923120	898536	GTCAGTGT others(1309): Show GTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAG CCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGG GCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAAC AGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGT CAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCC CAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGC TCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAG GTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCA GTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCA GGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTC TGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGT GGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGT GTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGG GCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTG GCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGG ATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGT GTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGC TTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGC AGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGAT TTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGT GGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTT CATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAG GCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTT GGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGG GGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCA TTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGC CAAGCCCAGGGCTTCAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0214 a0001c0005t0002g0214	1	402	0.0025	-1316	c.388 others(16): Show c.388+1847_389-538del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
ASMT_chrX_1610059_1648081	1639446	CGTGGGCA others(1308): Show CGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTG AGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGT GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT CCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGG ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA TCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGA TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC CACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCAC ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG CTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACA GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCAT CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG TCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCC TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC ATCCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGA CAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT GATGGTTCATGAGGAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	223	0.0045	-1315	c.910 others(17): Show c.910+2906_911-2023del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNOT10_chr3_32680188_32778875	32765254	GTTGCAGT others(1308): Show GTTGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGCCTGGGCAACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAGATGTTTAAATTTCAAATCAGCA GAATAAAAAGCAACTTGGGGCCGGGCACAGTGGCTCACATCTGTAATCCC ACACTCTGGGAGGCTGAGACAGGCAGATCACTTGAGTCCAGGGGTTTGAG ACCAGCCTGGGCAACATAATGAGACCCTGTCTCTACTAAAAATACCAAAA ATTAGCCAGGCATGGTGGTGCATTCCTGTAGTCCCAGATACTTAGGAGAC AGAGGTAGGAGGATTACCTGAGCCTGGGAGGTTGAGGCTGTAGTCAGCCA AGATCATGCCACTGCACTCCAGCCTGGGCAACTGGAGTGAGACCCTGTCC CCCCAAAAAAAAAAGACAAAAGAAGTAAGTTGACAGTTTTAATTATTAAA ATTCCAAAAGATGGAAAACTGTCTAAAAGATCACTTATATAAATAATAGT GCATCTGTACAGTTGAAGACAATGCAGCTATAAACTCTAGGTACTAAAAT GGAAAGATGTCCAAGACATACTAAATGAAAACAGCAAGGTGTGAAACAGT TTCTGTATAACCCTGTATACATGCATAAAAGATCTCTGAAAGGACACACC AAGAAACTGCAAACATTAGTTGTTGGGGTGGCAGGACGAATACTACATGG CTGGAGCAGTAGAATGGGAGACTTTTCACTGTATACTGTTATGCTTTTAA TTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGACT GGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTT CAAACACTTCTCCTGCGTCAGCCTCCCAAGTAGCTGGGATTACAGGCATG TACCACCACGCCCGGCTAATTTTGTATTTTTAATAGAGACGGGGTTTCTC CATGTTGAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCACCCGCCTC AGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGGTGC TTTTAAATTTTGAATTGTGTAAATCTTTTTTCAAAATGTGAATTATAGGC CAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGT GGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGA AACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAT GTGCCTGTAGTCCCAGCTACTCGGGCGGCTGAGGCAGGAGAATGGCATGA ACCCGGGAGGTGGAGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0002c0002t0001 a0003c0005t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 others(256): Show a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0353 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0322 a0001c0001t0002g0325 a0001c0001t0002g0352 a0001c0001t0004g0192 a0001c0003t0001g0145 a0002c0002t0001g0214 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0003c0005t0001g0286	259	354	0.7316	-1315	c.200 others(18): Show c.2004+463_2004+1777del	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
FOXP4_chr6_41541381_41607384	41595312	TGCCAGCC others(1308): Show TGCCAGCCAACGGGCCATGGGTGAGGGGCTGCCACCCCCAGGGCACCCGC TCTCTCAGCTCATCAGGATGACTAGACCTCTGAGGTCCCGCGACCCCACC AATTCATCTTACGGCAGAGGAGAGCCAGTGAGGGCCAGGGGCTGGCAGGA GGCCCCAGAGCAGATTTGTGGCAGAGCTGGTTCCAGGACCAGGTCTCTGC CCTCCTGGTCTTTTGTGCTCAGCTTCACTTCACCACCTGGCATTTTATTT ATTTACTTATTTATTTATTATTTTTTTAATTTTATTATTTTATTCATTTA TTTTTTTTGAGAAGGAGTTTTGTTCTTGTTGCCCAGGCTAGAGTGCAATG GCACGATCTCAGCTCACTGGAACCTCCACTTCCCGGGTTCAAGCAATTCT CCTGCCCCAGCCTTTCGGGTAGCTAGAATTACAGGTGCCCACGACCACGC CCGGCTAATTTTTTTTGTATTTAGTAGAAATGTGGTTTCACCACGTTGGT CAGGCTGGTCTCGAATTCCCAACTTCAGGTGATCCACCTGCCTTGGCCTC CCAAAGTGCTAGGATTATAGGCGTGCACCAGCGCACCTGGCCTATTATTT TTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACG ATTTTGGCTCACTGCAACCTCCACCTTGTGGGTTCAAGCGATTCTCCTGC CTTAGCCTCCCGAGAAGCTGAAATTACAGGCGCCCACCACCACACCCAGC TAATTATTTTACTTTTGGTAGAGACGGGGTTTCACCCTGTTGACCAGGCT GATCTCGAACTCCTGACCTCAGGTGATCTGCCCGCATCGGCCTCCCAAAA TGCTGGGATTACAGGCGTGAGCTACCGCACCTAGCCTCCACCTGGCAGTT TAAACAGAAACTGAGGAGCCTGGGACAGGGTCAGGACCTCCCTTTGGCTT CCACGTAGCAGCAGTGGCCTTCTCCCGACCTCAAACAGCCCCACCCCAGC CACCTGCTTGCTGTGCCCCTTGGGCCAGAGCCCCTGGGTAAGGAGAGGAG AGCAAGTTAGATGGATGTCTCTGAGGTGTGGGGTGTCTGCTCCCCTCAAA GATGCCTGCTTACCAGGCAGGAGCCTTTGCACCCCAGGCAGTGTGCAGCC TGGAGAATGGAGGGAAGCCATCCCCTGGTGAATGCCTAGGGGCCAGTCTC CAGGCCTGGCTGCGCTTGCACCTCTGCTTCTCACCAGTTTGGTGACCTTT GGCTGTTTCCTTAAGCTCTGTGAGAGCTCTGTGATGGTGTCATCACTGGA AGAGGGACAGCCCCCA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0056 a0001c0002t0045g0056	1	356	0.0028	-1315	c.165 others(17): Show c.1658+326_1659-545del	FOXP4	ENSG00000137166.18	transcript	ENST00000307972.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
NOC4L_chr12_132139457_132157468	132149094	TACCACAC others(1308): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	294	0.0034	-1315	c.901 others(15): Show c.901+238_902-534del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149358	CACCACAC others(1308): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACT CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	294	0.0034	-1315	c.901 others(15): Show c.901+555_902-217del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNER_chr2_229352629_229719555	229563120	CTCCTCCT others(1307): Show CTCCTCCTCATCCCATCACCATCATCATCCTCCTCACCCCATCACCATCA TCATCAACATCATCACACCATCACCATCATCATCCTCCTCCTCATCCCAT CACCATCATCATCCTCCTCACCCCATCACCATCATCATCAACATCATCAC ACCATCACCATCATCATCCTCCTCCTCATCCCATCACCATCATCATCAAC ATCATCACACCATGACCATCATCATCATCCTCCTTACCCCATCACCATCA TCATCATCCTCACCCCATCACCATCATCATCATCACCCCATCGCCATCAT CATCATCATCCTCACCCCATCACCATCATCATCTTCATCATCACCCCATC GCCATTATCATCATCATCCTCACCCCATCATCATCATCAACATCATCATC CCATCACCATCATCGTCATCACCCCATCACCATCATCGTCATCATCCTCA CCCCATTGCCATCATCATTAACATCATCACCCCATCACCATCATCATCAT CACCCCATCACCAACATCATCAACATCATCATCACCCCATCACCATCATC ATCAACATTATCACCCCATCACCGTCATCATCATCCTCCTCACCCCATCA CCATCATCATCATCACCCCATCACCATCATCATCATCCTCCTCACCCCAT CTCCATCATCATCAACATCATCACCCCATCACCATCAACATCATCACCCC ATCACCATCATCATCATCACCCCACCACCGTCATCATCATCCTCCTCACC CCTTCACCATCATCGTCATCACCCCATCACCATCATCATCATCCTCCTTA CCCCATCACCATTATCATCATCCTCACCCCATCACCATCATCATCCTCAT CCCATCACCATCATCATCATCATCATCCTCACCCCATCACCATCATCATC ATCCTCACCCCATCACCATCATCATCAACACCATCACCCCATCACCATCA TCATCATCCTCACCCCATCACCATCATCATCAACATCATCACCCCATCAC CATCATCATCATCCTCACCCCATCACCATCATCATCAACATCATCACCCC ATCAACATCATCATCAGCATCATCACCCCACCACTATCATCATCATCCTC CTCACCTCATCTCCATCATCAACATCATGACAGCATCACCATCATCATCA TCCTCCTCACCCCATCACCATCATCATCCTCCTCACCCCATCACCATCAT CATCTTCCTCACCCCATCACCATCATCATCATCATCCTCACCCCATCACC ATCATCATCATCATCACCCCATCACCATCATCATCAACATCATCACACCA TCACCATCATCATCA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03209.hp2 HG03471.hp1 others(1): Show HG02818.hp2 HG03209.hp2 HG03471.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0051 a0001c0001t0001g0151 a0001c0002t0001g0166 others(1): Show a0001c0001t0001g0051 a0001c0001t0001g0151 a0001c0002t0001g0166 a0001c0002t0001g0168	4	176	0.0227	-1314	c.848 others(19): Show c.848-17342_848-16029del	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	4/12			chr2	TogoVar
ZNF57_chr19_2895928_2923473	2909454	GTATTTTT others(1307): Show GTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTTGA CGTCGTGATCCGCACGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCAT GAGCCTCTGTGCCTGGCCGGTATCTTGTTTTAATTTGCATTTCCCTGATG ACATGATGTGGAGCATTTTTTATATACTCATCTGCCATCTATATCTTCAC AGATGAGTTGTCTTAAGGTCTTTAGCCTCCACACCTGGCTAATTTTTTCT TAATTTTAGAAATGGGGTCTCACTGTGTTGCCCAGGGTGATGTGAAACTC CTGAGCTCAAGCAATCCTCCCACCTTGGCCTCCCAACATGCTGGGATTAC AGGCATGTGCCACCACACCTGGCCTATTTGTACATGCTTTACTCTACATC GCACTCTCCTGATGACTACAGCTCTCCAGAAAGCCTGGAAAATGCATAGT GTCAGTCTTCCAACTTGAACCTTCCCCTTCAATACTGTGTTGGTATTTTG AGTCTTTTACCTCTCCATATAAACTTTACAATCAGTTTGTCAATATCCAC CAAATAACTTGCTGGGATTTTGATTGGGATTGTGTTGAATCTATAGATCA AGTTGGGAAGAACCAATGTCTTGACAATATTGGGTCTTCTATACGTGGAC ATGGAATAACTATTCACTTAGTTCTTTGATTTCTTCTGTCAGAGTTTTAC AATTTTCCTAAGATCTTGTGCACATTTTGTTAGATTTATACCTGTATGTT TTATTTTAGGGCAATGCTGATTTAATTCCAGTATTGTCTAAGAGCATATG ATGTACGATATTCTTTTAAACTTGTTAAGGTGTTTTATGTCCCAAAATAC AGTCTAGGTTGAGGAGTGTTCCACGTGAGCTTGACAAGAATGTGTTTTCT GCTGTTGTTGAAGTTGTCTACAGACATTCATCATTGGGGGTGCTGTTGAA TTCAACTCTGTGCTTATTGATGTTCCACGTGCTTGATCTGTTTCTTTTCT TTTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTCCC AGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCGCCGCCTCCT GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGCAGCTGGGACTACAG GTACTCCCCGCCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGG GTTTCACCATGTTAGCCACGATGGTCTCAATCTCCTGACATCGTGATCTG CCCGCCTCGGCCTCCCGAAGTGTTGGGGTTACAGGCGTGAGCCAATGCGC CTGGCCTAATTTTTA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18522.hp2 NA20129.hp2 HG02922.hp1 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0272 a0001c0005t0001g0273 a0001c0005t0001g0287 a0001c0005t0001g0272 a0001c0005t0001g0273 a0001c0005t0001g0287	3	398	0.0075	-1314	c.4-6 others(13): Show c.4-6043_4-4730del	ZNF57	ENSG00000171970.14	transcript	ENST00000306908.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF57_chr19_2895928_2923473	2909481	CATGTTAG others(1307): Show CATGTTAGCCAGGATAGTCTTGACGTCGTGATCCGCACGCCTCGGCCTCC CAAAGTGCTAGGATTACAGGCATGAGCCTCTGTGCCTGGCCGGTATCTTG TTTTAATTTGCATTTCCCTGATGACATGATGTGGAGCATTTTTTATATAC TCATCTGCCATCTATATCTTCACAGATGAGTTGTCTTAAGGTCTTTAGCC TCCACACCTGGCTAATTTTTTCTTAATTTTAGAAATGGGGTCTCACTGTG TTGCCCAGGGTGATGTGAAACTCCTGAGCTCAAGCAATCCTCCCACCTTG GCCTCCCAACATGCTGGGATTACAGGCATGTGCCACCACACCTGGCCTAT TTGTACATGCTTTACTCTACATCGCACTCTCCTGATGACTACAGCTCTCC AGAAAGCCTGGAAAATGCATAGTGTCAGTCTTCCAACTTGAACCTTCCCC TTCAATACTGTGTTGGTATTTTGAGTCTTTTACCTCTCCATATAAACTTT ACAATCAGTTTGTCAATATCCACCAAATAACTTGCTGGGATTTTGATTGG GATTGTGTTGAATCTATAGATCAAGTTGGGAAGAACCAATGTCTTGACAA TATTGGGTCTTCTATACGTGGACATGGAATAACTATTCACTTAGTTCTTT GATTTCTTCTGTCAGAGTTTTACAATTTTCCTAAGATCTTGTGCACATTT TGTTAGATTTATACCTGTATGTTTTATTTTAGGGCAATGCTGATTTAATT CCAGTATTGTCTAAGAGCATATGATGTACGATATTCTTTTAAACTTGTTA AGGTGTTTTATGTCCCAAAATACAGTCTAGGTTGAGGAGTGTTCCACGTG AGCTTGACAAGAATGTGTTTTCTGCTGTTGTTGAAGTTGTCTACAGACAT TCATCATTGGGGGTGCTGTTGAATTCAACTCTGTGCTTATTGATGTTCCA CGTGCTTGATCTGTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGA GACAGAGTCTCACTCTGTTTCCCAGGCTGGAGTGCAGTGGCGCGATCTCT GCTCACTGCAAGCGCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCCAGCAGCTGGGACTACAGGTACTCCCCGCCATGCCCAGCTAATTT TTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCACGATGGTCT CAATCTCCTGACATCGTGATCTGCCCGCCTCGGCCTCCCGAAGTGTTGGG GTTACAGGCGTGAGCCAATGCGCCTGGCCTAATTTTTATATTTTTAGTAG AGACGGGGTTTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG02622.hp1 others(5): Show HG01109.hp1 HG02257.hp1 HG02622.hp1 HG03130.hp2 HG03139.hp2 HG03471.hp1 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0011 a0001c0005 a0001c0011	a0001c0005t0001 a0001c0005t0002 a0001c0011t0002 a0001c0005t0001 a0001c0005t0002 a0001c0011t0002	a0001c0005t0001g0117 a0001c0005t0002g0023 a0001c0005t0002g0057 others(4): Show a0001c0005t0001g0117 a0001c0005t0002g0023 a0001c0005t0002g0057 a0001c0005t0002g0058 a0001c0005t0002g0059 a0001c0011t0002g0060 a0001c0011t0002g0061	8	398	0.0201	-1314	c.4-6 others(13): Show c.4-6040_4-4727del	ZNF57	ENSG00000171970.14	transcript	ENST00000306908.10	protein_coding	1/3			chr19	TogoVar
ASMT_chrX_1610059_1648081	1637210	ATGGCACA others(1306): Show ATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG GGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT CCATCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGA TGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAG GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC TGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGA TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCT GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG AGGTCCATCCATCC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	223	0.0045	-1313	c.910 others(16): Show c.910+653_910+1965del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GMCL1_chr2_69824660_69886384	69853374	CAGGTGCC others(1306): Show CAGGTGCCAAGGGAATACAAAAAATATATGAGATAATGTGGAAATTCTTT TCATTAACTTGGCTGTCTTTTTACAATTTTCAGGAAAAAAATATTTTAGT GGGGAACACCTTCTGGTCTACAGAAAACCTGTGTTCCATGTGAAGCATGG TTTGAGACATAATAGTCTATAATGGCAACTGTCATGTTTTTCTCCTTATC CTTAATAGCAACAGGACTGGGTATACATACTCTCCTGGGTATATGTCGTT TAACAGAAAACATAGACTAGGGCTCATGCACAAATACCTGTTTGATAGCA GTAACTCTAAACCTTTCCTTCTGACTCATGAAAGCACACTGGAATGTAAC TGAGGGTAATTTTTAGGAATAACCTTAAATTCTCCCTAAAAGAAAAAAAA TTATATACTTCATAAACTTGAATTATTCTATTTTCTTTTCTTTTTTTGAG ACAGAGTTTCACTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCTCAG CTCACTGCATCCTCTGCCTCCCGGGTTTAAGCAATTCTCTGCCTCAGCCT CCCAGTTAGCTGGGTTTACAGATGCCCACTACCACACCCAGCTAATTTTT TTTGTATTTTTAGTAGAGACAGGGTTTCATCATCTTGGCCAGGCTGATCT TGAACTCCTGACCTCGTGATCCACCCTCCTCGGCCTCCCAAAGTGTTGGG ATTACAGGCGTGAGCCACCACGCCCAGCCAAATTATTCTATTTTCAGTAT TATTATTATTATTATTATTATTATTATCATTATTACTTATTTTAGAGACA AGTTCTTGCTCTGTCACACAGGCTGGAGTGCAGTGGTGCAATCATAGCTC ACTGCAAGCTGAAACTCCTGGGCTCAAGCAATCTTTCCACCTCAGCCTCC TGAGTAGCTGGGATCACAGGCGTGAGCCACCACGCCTAGCCATACAGTGT CTTTCTTATTTTGTATTTCAATAGAGAATTAATATATTAACTAGTGTTCA TTACATGTAGCTGAAATGTAAGTTAAAAGAAATTAAGAGATATTCTTTGT CCTGTGTACCTTATCCTTGAGTGAGGCTTTTGGGCTCCAGAGTTTCACTG GCCTGTTCAGGTCTTGGGAGGGGGATTCTGGCGAGAATGTGTAATCCTAA GTACCTTTCTCAAGCCTTCCTTTCCCAACTTGCTGCACTATACATGCCAA ATGCCCAGAAACAGCTGAATTCCCAGCCTGGGGGTTTCATTAAGACCAAA GTTAATTTCCTGGGATTTTAAAATAAATCTCCTTATGTTCTTATCTGTAA ACCTAAGGTTTATA	C C	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	390	0.0026	-1313	c.935 others(16): Show c.935-1447_935-135del	GMCL1	ENSG00000087338.5	transcript	ENST00000282570.4	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
DLGAP2_chr8_732628_1713476	1014793	CTGTGTGT others(1305): Show CTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGG ACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGT GTATGACCAGGACAGACGGCGCCTCCACTGTGTGAGACCAGGACAGACGG CGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGTGACC AGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTC CACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCA GGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGT GTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAG ACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTG TGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGA CGGCGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGT GTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGA CGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTG ACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCT CCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAG GACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACT GTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAG ACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTG TGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGC CTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGA CCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCC TCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCA GGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGATGCCTCC ACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGA CAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACT GTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGAC GATGCCTCCACTG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0005 a0001c0002t0023g0005	1	40	0.0250	-1312	c.73+ others(19): Show c.73+106836_73+108147del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
NOC4L_chr12_132139457_132157468	132149180	CACACCAC others(1305): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0202 a0001c0005t0001g0202	1	294	0.0034	-1312	c.901 others(15): Show c.901+286_902-489del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
TCF25_chr16_89868592_89916379	89901414	TGAGGGGC others(1304): Show TGAGGGGCTGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGACGGGCCTCC GGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGA GGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGACTAACACGG TGAAACCACGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGTTGGC GGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCAT GAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCAACATAGTGAGACTCCGTCTCAAAAAAAAAGAAAAAAAAA AAAAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATCCC TCCTTAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATC CCTCCTTAAGATGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAA TCCCTCCTTAAGACGGGCCTCCGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCTAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGACTAACACGGTGAAACCACGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGTTGGCGGGCACCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACTCCGT CTCAAAAAAAAAGAAAAAAAAAAAAAAGACGGGCCTCCTCCGAGGGGCTG TGAGGGGTGAGGGTGAAATCCCTCCTTAAGACGGGCCTCCTCCGAGGGGC TGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGATGGGCCTCCTCCGAGGG GCTGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGACGGGCCTCCGGCCGG GCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCTGACTAACACGGTGAAAC CACGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGTTGGCCGGCAC CTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCC AGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCT GGGCAACATAGCGAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAAAAAGA CGGGCCTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00609.hp1 others(27): Show HG00323.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01175.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG03491.hp2 HG03492.hp1 NA18612.hp1 NA18940.hp2 NA18943.hp1 NA18947.hp1 NA18952.hp2 NA18955.hp2 NA18960.hp1 NA18984.hp2 NA18990.hp2 NA19003.hp1 NA19070.hp2 NA19074.hp2 NA19087.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0003c0014 a0005c0007 a0001c0002 a0003c0014 a0005c0007	a0001c0002t0001 a0001c0002t0005 a0003c0014t0001 others(1): Show a0001c0002t0001 a0001c0002t0005 a0003c0014t0001 a0005c0007t0001	a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 others(27): Show a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0005g0027 a0003c0014t0001g0026 a0005c0007t0001g0047	30	300	0.1000	-1311	c.138 others(18): Show c.1381+670_1382-1344del	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
SUFU_chr10_102498972_102638535	102529901	CGCCACTG others(1303): Show CGCCACTGCACTCCAGCCTAGCGACAGAGTGAGACTCCGTCTCAAAAAAA AAAAAAGAAAAGAAAAAGGAAAGTTGCACACTAACTGCCGTGGAAGGGCA CTTGCTAGGTGCCAGACACTGTGCTGTCACACTAAAACCTCCCACCCTAT GAGATGAGTGTTCTTCTCCCAGTTTTACAGATGAGGAGCCTTGCACACAT GGAAGTTAACTTGCCCACCAGTCAGCTAGAGAAAGGTGGAGCTGGGGTTT GATGGGCTCAGTTGCTTCCACAGCGTGTATTCTCGTCCACTTTGCTGGGC TCCTCTCTGGCATCTTATTGGGATGCTGGAGTAATATGTTAATAATTTCA TGCAGTTTCCACCTAAGTCCACCCAGAGACCTCCAAAGGGTCCAAAGATC GTGAGACTAAGAATGTCTGACACCTGCCTTCCTCACTTCCCAACTTCCCT GTCTCTAAGCCAGGCTCAACACTCTGCCTAAGTCCTTCAGCCCATAACCT TGGGCTGGCATTTAGTTTCTCTTTACCTTTGTCCACTATTTTAAATCTTT TTTTTTTTTTTTTTTTTTAATGGAGACAGGGACTCACTCTGTTGCCCAGC CTGAGTGCAGTGGCACAGTCATAGCTCACTACAGCCTCAAACTCCTGGGC TCAAGTGGTCCTCATGCCTCAGCCTCTTGAGTAGATAGGACTTCAAGTTT GTGCCACCATGCTTGGTTAATTTTTAAATTTTTTATAGAGATGGGGTCTC ACTATGTTGCCCAGACTGGTCTTGAACTCCTGGGCTAAAGCAATCCTACT GCCTCGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCATGTCTG GCCTTCTGTGACTCTTAATCCCAAGGAAATAACCCAAATATGGGAAGGAA ACGAGGTAATATGCACAAAAATATTTTCCAAGGCATAGCTTTGGAAGCAA CCTTATGTCCAACAAGAAAGCAGTGGTCAAATAGAGGACTATATATGGTT TTCCTGGTTTTGTAATAAATGATAATAGTAATTATCAAGAAAATTGTAGT TTCTTGGCTGTGCATGGTGGTTCACACCTGTAGTCCCAGCGCTTTGGGAG GCTGAGTCAGGAGGATTGCTTGAGCCCAGAAGTTTGAGACCAGTCCAGGC AACATAGCAATACCCCATAACCCATTTCTACCAAAAAAAAAAAAAAAAAA AAAATGTAATCAGGTGTAGTGGTGCACACATGTAGTCCCAGCTACTCAGG AGACTGAGGCAGGAGGATCACTTGAGCCTGGAAGGCTGAGGCAGCAGTGA GTCACGATCAT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19077.hp1 NA19085.hp1 NA19011.hp2 NA19077.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169	3	268	0.0112	-1310	c.318 others(19): Show c.318-20050_318-18741del	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF516_chr18_76352682_76500242	76393158	GGGGAAGG others(1303): Show GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTG GTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGG GCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCA GGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0026 a0001c0006t0026	a0001c0006t0026g0034 a0001c0006t0026g0034	1	346	0.0029	-1310	c.181 others(21): Show c.1811-14165_1811-12856del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
PCGF3_chr4_700832_775089	744840	CGCCGTGG others(1302): Show CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGT CGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0089 a0001c0001t0006g0089	1	366	0.0027	-1309	c.462 others(16): Show c.462+153_462+1461del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10			chr4	TogoVar
PCGF3_chr4_700832_775089	745467	TCCGTGGA others(1302): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0147 a0001c0001t0060g0147	1	366	0.0027	-1309	c.462 others(16): Show c.462+811_462+2119del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745841	GGGGGTCG others(1302): Show GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGC AGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCC	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0319 a0001c0001t0008g0319	1	366	0.0027	-1309	c.462 others(17): Show c.462+1178_462+2486del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1070474	CCCCAGTG others(1302): Show CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTG AGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCC CAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACG GCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACT TATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC CCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCA GCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGT GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG GGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCAC ACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCA GCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGA GCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGC ACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCAT CACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTAT GCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCC CCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGC CCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCAC ACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATC ACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGC AGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCC CCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACAC GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCAC ACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0016 a0001c0007t0006g0016	1	118	0.0085	-1309	c.224 others(19): Show c.2241+1850_2241+3158del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
PCGF3_chr4_700832_775089	744984	CCCGGGGG others(1301): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18973.hp1 NA18999.hp2 NA18945.hp2 NA18973.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0223 a0001c0001t0007g0002 a0001c0001t0007g0223	3	366	0.0082	-1308	c.462 others(16): Show c.462+299_462+1606del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
S1PR4_chr19_3173769_3185332	3174528	GCCTGTGC others(1301): Show GCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCT CATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCT GTGCCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCTCATG GGACGCCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGT TCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACG CCTGTGTTCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGCCCTCA TGGGACGCCTGTGTTCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGT GCCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCTCATGGG ACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGTGTT CTCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGCCCTCATGGGACG CCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTC ATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTG TGCCCCTCATGGGACACCTGTGTTCTCATGGGACGCCTGTGCCCTCATGG GACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGT TCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACG CCTGTGCCCCTCATGGGACACCTGTGTTCTCACGGGACGCCTGTGCCCTC ATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACGCCT GTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGCCCTCATG GGACGCCTGTGCCCTCATGGGACGCCTGCGTTCTCATGGGACGCCTGCAT TCTCATGGGACGCCTGTGCCCTCATGGGACACCTGTGTTCTCATGGGACA CCTGTGTTCTCATGGGATGCCTGTGCCCTCATGGGATGCCTGTACCCCTC ATGGGACGCCTGTGTTCTCATGGGATGCCTGTACCCTCATGGGACGCCTG TACCCCTCATGGGACATCTGTGCTCTCATGGGATGCCTGTGCCCCTCATG GGATGCCTGTGCCCTCATGGGACGCCTGCATTCTCATGGGACACCTGTGC CCTCATGGGATGCCTGTACCCTCATGGGACGCCTGTGCCCCTCATGGGAT GCCTGTGTTCTCATGGGATGCCTGTGCCCCTCATGGGACGCCTGCATTCT CATGGGACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02145.hp2 others(3): Show HG01884.hp2 HG01891.hp2 HG02145.hp2 HG03453.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	6	418	0.0144	-1308	c.-42 others(11): Show c.-4264_-2957del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4240		chr19	TogoVar
REV1_chr2_99395477_99495017	99487251	GCTATGCC others(1300): Show GCTATGCCCTGATGGCGACTAAGATTCAAATGTAAGTGGTTCACAGGATG CTTTTAGAGGACACTAAGCAAGAAAGTGACAATCTGATTTACATTTTTAA AAAGATCCCTCTGGTTGTCAAGGTGAATCCCTAGGGAACAGTCAGGGAGC AAGAGAAATAAACCAGTAAAGGCACTATGGAAACACTCCAACCAAGAGAT AATGGAACTTAGACTAGGATTCATGTACTGTTTATAAGTAGATGCTAACA GAAGAGCCTGCAACCTAATTGCCTCTAAAGAGCCTTTTTAATATCCCTTT TCCCGTCTCGTCTCCTGACTTGCCTTTGGAAAAAAATAAGATTATTTTTT AATGTCCATGTTAACGCTTCAGTTGGTGCTATTATAGTAAAAAAAAACTT TTCATTTTTAAATGTTCTGTTTAATATACTCTATGATTAGTAATACGCCA CATATACACACCCATACATTCTTGAAAAGCAGAAAGACCCACAATGCTCT TTAGTGTAGGACTTGTTCATTTATTTGGAGACGAGAGGTACCTGTCACCT CTTCTGATTACCTTTCCTCTCACGCTTTGTCTCTAGCACATCCTGGCTCA TTCTAGATTGTGAACTGCAATAAACAGGTATACCAAAGGGAATATGTATT TACTGAGCACCTCCTGAGTACCATGGTGTCACTAGATGTCTCACGTTTAA GAACTGATTTAATCCTCAGCTACCCAAGGTGGGAAATGGTATCTTCATTC TACAAACGAGAAAAAATCAGAGATACTAGTAACTTAACTTGTCCAGTCAC CAGCTAACAATTTGTAGGGCCAGAAATCTAACCTCCATGTAACTGTGAAC TTCCTGTCTTTCCACTACAGCAGCTATCAAAGAAAGTGCTTTCAAATATA TATTATATGTAGTCACTGCAACTTCTTATGAATAATGACCAGTTTGTTGC TGGTGAGGACAACGTTTCCTTAATGCTCTTATGTAGAATCAGAGTTTTGA AGTTGCGAGTGGGAAGTTGGAAATGTAGTGATCTTATATATTCAAGCACA TTATTTTTTAAAAATTATGTTCTACTTGAGACCTCATAGAAATTAATTTT AAAAGAGCAATTCCCATCTTTACAAAAAAAATTAAATATGTACGGTTTAC CGTAAAATAGCGGTTAAGGTTCTACAACAAAAGATAGGAGTTTGGTACAG ACTCTACCCTCAAAAGGTCCTACACAGTAAGAGAAGACAGGGCTAAAAAG ATAAACGCAACACAGGAAAAGGCGCAAATAGCCTAAGAATTGAATGGAAG AGAGCCTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(170): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp2 NA18983.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0007 a0008 a0011	a0001c0001 a0001c0015 a0003c0003 others(8): Show a0001c0001 a0001c0015 a0003c0003 a0003c0006 a0003c0010 a0003c0012 a0003c0013 a0005c0005 a0007c0014 a0008c0011 a0011c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0015t0002 a0003c0003t0001 a0003c0003t0003 a0003c0006t0001 a0003c0010t0001 a0003c0012t0001 a0003c0013t0006 a0005c0005t0001 a0007c0014t0001 a0008c0011t0001 a0011c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0001g0110 others(167): Show a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0004g0139 a0001c0001t0004g0148 a0001c0001t0004g0151 a0001c0001t0009g0201 a0001c0015t0002g0203 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0054 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0077 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0090 a0003c0003t0001g0093 a0003c0003t0001g0096 a0003c0003t0001g0098 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0106 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0126 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0200 a0003c0003t0001g0209 a0003c0003t0001g0213 a0003c0003t0003g0089 a0003c0003t0003g0091 a0003c0003t0003g0092 a0003c0003t0003g0094 a0003c0003t0003g0095 a0003c0006t0001g0210 a0003c0006t0001g0211 a0003c0006t0001g0212 a0003c0010t0001g0109 a0003c0012t0001g0097 a0003c0013t0006g0130 a0005c0005t0001g0053 a0005c0005t0001g0069 a0005c0005t0001g0070 a0005c0005t0001g0071 a0005c0005t0001g0072 a0005c0005t0001g0073 a0005c0005t0001g0076 a0005c0005t0001g0078 a0005c0005t0001g0086 a0005c0005t0001g0099 a0007c0014t0001g0127 a0008c0011t0001g0115 a0011c0016t0001g0049	173	324	0.5340	-1307	c.-11 others(17): Show c.-11+1259_-11+2565del	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	1/22			chr2	TogoVar
RNASE6_chr14_20776268_20787467	20785698	ACGTGAGG others(1300): Show ACGTGAGGGAGGGGAAGGAAGGGGAAGAAGAGGAAGAAGAAGGAGAGGAA GTGACACAGACCCTATGTGTTCCACAAAAGTGAAATATTTACTGTCTGGT CCTTTATAGAACAAAGTGTGTTGATTCCTGGTCTTCTAGACTATTCAATG GATCTTGTCCTTTGGCTGTGGCTGAGGCAGGTGGCTGGAATTCAGTAGGA AGGACGACACCTGGCAGGCTGAGAATTTTGAACTGGGGCCTCAGGAAAGT AATGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTGGGCTCACTG CAAGCTCCGCCTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCCAG TAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGGGACCGGGTTTCACCATGTTGGCCAGGATCGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGACCTTCCAAAGTGCTGGGATTCCAGG AGTGAGCCACCGCGCCCGACCGTAATGAATTCTTAATATTCCTTTCTGTG CCCTGTTTCAGTCTTTTTCTGCAATGTACTCATTTCCTCTGCTTTTCTTT TTCACACAGTAAGTAGACAGTCATCCCTTTCCATCTCACTTTCTAATTTT CTCTGAAATATTATTTATTTTTGAAGGGATTCTGACTGATCCCATCCATA GATCAGACATGACCATCGGACAGAATCACATTGCAAAAAATAGCTTCCAG GAGCCTTTCTTGTGGACCATGCAGAAGAGAGGCTTAGAGAGAACTGCCCT TAAGGCTGGCCAAATGGGGTCTCTGGCCTCGCCTGTTCCTCAGGCACCCC GTTGCATCTTGGAATACCCTTCTCAACATTTTCTAAGTCTCTCATCAGTG GCTGCAGTCAGCCCAGGCTGGTAGTGCCTGGCCTGAGATCCGCATGGGAT CCTATTCTCTTTCTCTCCTTTGGGGCTTTCTCCCACCCTCAACCCTTCCT TCCAGCACAGGAAGCCCTAAGGAGCTTCAGGACTCATGTCTGTAGTGTTG TCTTGGGGCCAGGACTGGTTCCAGGTGAGTTAGCCCTGGTTAGAGATGTC ATAGTTCCCAGAGAAAAGGGGCTAGATAGACAATTCAATACTTTTTCTTT AACCACACAGTGTGGAAACAGAAATTGAATAACAATGTACTCTTGAGGAA TAGAGGAAAGTTTATTTTAAGACAGGAGGATGTGGGACCAGTAAAAACAT TAAACCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	466	0.0022	-1307	c.35 others(11): Show c.3547_*4853del	RNASE6	ENSG00000169413.3	transcript	ENST00000304677.3	protein_coding		3232		chr14	TogoVar
SLC36A4_chr11_93139174_93202991	93201684	ATAATGTA others(1300): Show ATAATGTAACAGAATTTCTCAAAATTGAAGAACATTTGTTTCCAGATTTG AAGAATTCACTGAATGCCCAATACAACAAATGCAAACAGACCTAAGTCAA GATATATCACTGAAAAGTTTTTAGAACATTTGAGAATAATAGGAAGATTC TAAAAGCTTCCCCAGATTAAAAAAAAATGGGGGTGAAGGCAATCACATTC AATTGGAATCACATCTACTACTCAGTAGTAACATCATAAGCTAGCTAGAG GGAAATGGAGCATAGCATTCCAACTTCTGAAGGAAAACACACCCAACTTG GAATTCTATACCTAACCAAAATATCAATCAAATGAAACAGTAAAATAAAT ACATTTTAATATGCATAAAAGCTCAATGTGTACTTCCCATGTGCCCTTTC TTAGAAAGCACTGGAGAAATGCTCCACCAAAATTAAGGAATAAACTTAGA AAGAAGGAGACATGGGATTCAGGAAACCAGGAATTCAGCAAAGGAGAGAG GAACTCCCAAGAGGATGCCAAAAGGAAGTTCCAGTATCACAGTTTTGCAC TGGGCCTAGAGAGCTACCAGTCCAAATTGGGTCAAGAAGATAGAAGGCAC CAGGAACAGCTATCCCCAAGGACAAAAGAAACAGTGAAACTGATTGATAA TCTGAAAAGGATGCAGAATTGGACAAAGAGACATTATTGAGAGCTGTAGG GAGGGTGAGAAAACTTAGCCACAGATGTGAAGAAAGCCAAGCAGATGAAA AAAAAAAAAAAAGGCAACTAACTCCAGTTAACATAATAATCATAAAAGAA ACAAAAGTATAGTATACCATTTTGCCTTGGCAGTGAATAATACATGCAAA GGCATAATAATAAAAATGTGAATATGGTGGAGAATGTATTATAACTCTCT GAAGATATGCGTGGAGTGAGGAGAAATTATCTGTATGAAGGATTATGTAA AAGAGCTAAATTCTCACTTTTCATAGTTGTGAAAAAATAGTATCTAAAAT TGAAAAAATTAATAGTGCTATAAGCATGTCATTTAGAAATATGAAGGCAA ATACCAAATGGAATTACCAAAAGAGTTCAAAATATTTGCCTCTTGAAAAA GGAAATTGTAGCAAGATATAAGGCAAAAATTTATTTCGTATTATGTTTTA TTTGATTATTTAAGGTAATGCATAATAAAAATAAATGTAAATTTCCAAAA AGAAAAAGTCATAGTCTCCACCAAATACTAATTTTTATTAAGACAAATAT CCAACAAAGTCATCGATAATATTTATTGTTTTTTAAAGTCATGTATTTTC CTGCTCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01433.hp1 HG01934.hp2 others(2): Show HG00738.hp2 HG01433.hp1 HG01934.hp2 HG01943.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0192 a0001c0001t0002g0017 a0001c0001t0002g0192	5	372	0.0134	-1307	c.-51 others(11): Show c.-5159_-3853del	SLC36A4	ENSG00000180773.15	transcript	ENST00000326402.9	protein_coding		3694		chr11	TogoVar
GRTP1_chr13_113319163_113369130	113346383	TGGGAGGA others(1299): Show TGGGAGGACCTCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAG AACAGACCCAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTC TGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCG GGAGGACCTCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAG AACAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTC TGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGG AGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAG CGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTG TGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGG AGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAG TGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTG TGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAG GACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCG GACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGC AGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGA CCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGA CCCAGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGC TGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGA CCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACC CGGGAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCG AGAGCAGACCCGGGAGGACCTCTGTGGCTGACAGTGGACCCGGGAGGACC TCTGTGGCTGAGAGCAGACCCAGGAGGATCTCTGTGGCCGAGAGCAGACC TGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGCACCTCTGTGGCTG AGCGGATCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAGGACCTC TGTGGCTGAGAACAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTG GGAGGACCTCTGTGGCTGAGCAGATCTGGGAGGACCTCTGTGGCAGAGAG CAGACCC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0193 a0003c0004t0001g0193	1	288	0.0035	-1306	c.466 others(17): Show c.466-2730_466-1425del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
RPH3AL_chr17_207389_357807	286935	GCACCCTC others(1299): Show GCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGA CCTCACACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCA GACCTCACTCCCTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACC GTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCA CCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTC TCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCC TCTCTCTCCACCGACAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTC ACACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACC TCACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCA GACCTCACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGT CAGACCTCACACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACC GTCAGACCTCACTCCCTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTC CACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTC TCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACACCCTC TCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGAGCTCGCAC CCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGACAGACC TCGCACCCTCTCTCTCCACCGACAGACCTCGCACTCTCTCTCCACCGACA GACCTCGCACGCTCTCTCTCCACCGTCAGACCTCACACTCTCTCTCCACC GTCAGACCTCACTCCCTCTCTCCACCGACAGACCTCACACTCTCTCTCCA CCGACAGAGCTCACACTCTCTCTCCACCGTCAGACCTCACTCTCTCTCTC CACCGTCAGACCTCCCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTC TCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACTCCC TCTCTCCACCGTCAGACCTCACTCCGTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTC ACTCCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCA GGCCTCA	G G	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	133	0.0075	-1306	c.352 others(17): Show c.352-6387_352-5082del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1288264	TCTGCTCC others(1299): Show TCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCC CCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCC GTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCC CCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	290	0.0035	-1306	c.166 others(17): Show c.1662+240_1663-689del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129088206	GGGTGTCC others(1299): Show GGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCTATGA CTGGGTGTCCTCCCTGACCGGGGTGTCCTCTATGACCGGGTGTCCTCCAT GACCGGGTGTCCTCCCTGACCGGGGTGTCCTCTATGACCGGGTGTCCTCC ATGACCGGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACCGGGTGTCC TCCCTGACTGGGGTGTCCTCTATGACCGGGTGTCCTCCATGACCGGGTGT CCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGA TGTCCTCCATGACCGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACCGG GTGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACC GGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGATGTCCTCCATG ACCGGGTGTCCTCCCTGACCGGGGTGTCCTCTATGACCGGGTGTCCTCCC TGACCGGGTGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGGTGTCCTC CATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCC TCCCTGACCGGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGT CCTCCATGACCGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACCGGGTG TCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGACCGGG TGTCCTCCCTGACCGGGATGTCCTCCATGACCGGGGTGTCCTCTATGACC GGGATGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGATGTCCTCCATG ACCGGGGTGTCCTCTATGACCGGGATGTCCTCCATGACCGGGGTGTCCTC CATGACCGGGGTGTCCTCTATGACCGGGTGTCCTCTATGACCGGGTGTCC TCCCTGACCGGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGT CCTCTATGACCGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACCGGGTG TCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCTATGACCGGG TGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGATGTCCTCCATGACCG GGGTGTCCTCTATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCCTGA CCGGGATGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGGTGTCCTCT ATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTGTCCTC TATGACC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA20752.hp1 HG01192.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0084 a0001c0001t0015g0005 a0001c0001t0003g0084 a0001c0001t0015g0005	2	94	0.0213	-1306	c.144 others(19): Show c.1444-4810_1444-3505del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
CROCC2_chr2_240901336_240998311	240978266	TCTCTGGG others(1298): Show TCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCACCCCTCCTCAGTCTCT GGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTACGAGCCTCA GGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGC CCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCAT CCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTG CTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAA GCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCCGTCTCT GTGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCA GGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGC CCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGG CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCAT CCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTG CTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAG TCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCA GGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGC CCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCAT CCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTG CTCAAG	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02080.hp2 HG02155.hp2 others(5): Show HG02027.hp1 HG02080.hp2 HG02155.hp2 HG03942.hp2 NA18962.hp1 NA18973.hp2 NA18994.hp2 NA19090.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0089 a0007c0006 others(1): Show a0001c0001 a0001c0089 a0007c0006 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0089t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0089t0001 a0007c0006t0003 a0009c0010t0001	a0001c0001t0001g0095 a0001c0001t0002g0274 a0001c0001t0002g0306 others(5): Show a0001c0001t0001g0095 a0001c0001t0002g0274 a0001c0001t0002g0306 a0001c0089t0001g0139 a0007c0006t0003g0098 a0009c0010t0001g0222 a0009c0010t0001g0223 a0009c0010t0001g0230	8	350	0.0229	-1305	c.440 others(19): Show c.4402-4591_4402-3287del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC66A2_chr18_79897420_79956653	79920585	CCGAGGGA others(1298): Show CCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAG GTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGT GAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAG GAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGA CGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAG GGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGG GTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACC GAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCA AGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAG GAGAGACGGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAA CCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGG TCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAG GAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAG GAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAG AGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCA GAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGA CGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAG GGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAG AGATGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGA GGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCA AGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGA GGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGA ACCGAG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0320 a0001c0001t0003g0320	1	352	0.0028	-1305	c.392 others(17): Show c.392-2490_392-1186del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
TACC2_chr10_121984163_122259542	122122504	TAATAGCT others(1298): Show TAATAGCTGAAGGCTAAATCTTTAAATTGCTAGGCTTTCTCATCCGAGAG TGGAAAATCTCTGTTCTCCCTGCGTGGGCTCCAGGGTCCGTTTGATAAGC TGCTTTCCCCGGGGTCCTGTGGGAGACAGCTTCTTGTTCCTTAGCTTGAG TCAGGCCCAGAGCATGCTGTGGGATTTCCTGGCTCCTGTGCTCTTGGACG CGGGTCCCAGTCCTGACTCTGTTCTTCGCCCTCTTAAGGGGAGGGGCTGC ATGAGTGAGTGTGTGCAGAGCCCTTCGCACAACACCTGGCAAACAGAAAG AAGTGCTTACAATGTGAGCTGCCCTTATGACTGCTGTTATCATTAATTCT TTTATTGTAATTATTTAAATGTGCTATAATATTTCATATATATTCAAATT TTATCACCAAAAATAAAATCAGCATGCTTGCAACATAGATGAAGTCCCTC AAATCTCAGGGCCATAGTTTCTCCTCTGCTGCTGAGAGAGGTTGGCCTCT CTGGTTTTGGAGATCATTTTTTTGAGAGAGTTTCACTCACCCAGGCTGGA GTGCAGTGGCACAATCTCAGCTCACTGCAACCCCTACTTCCCAGGTTCAA GTGATTCTCATGCCTCAGCTTCCAGAGTAGCTGGGACCACAGGTGCACGC CAACACACCCGGCTAATTTTTTTGTATTTTTAGTACAGACAGGGTTTTGT GATATTGGCCAGGCTGGTCTCGAACTCCTGGGCTGAAGTGATTCACCCAC CTCGGCCTCCCAAAGTGCTGGGATTACAGCTGTGAGCCACCGCGCCTGGC CTGGTCTTAGAAATCTTGTTACTCACCTGGCCCCACTCCATGCCTGGCCT GCAGGGATGCCACAGGCCACACTTGTCCACCCATTTTCCAGATCCAGAAG AGATGAGTTGTTTTTCATCATCACTAAAAAGCACAATGTGCTTACCCCGA GGGACCTGGGGAACCCACCTTTCAAAGCGCAGCTGGGGTCTGTGGGCCCC TCACCCAGAGGAATGCCAAGGGTGGCTCTGAAAAGGATGCCCTGTGTGTT CCGCATGTCGTGGTGCCTGTGCTGTGGCTTCTAACTGGTCAGTTCGGTCA TGCCCAGCCTAGAACTGGCCATGAAAATGCAGATCTTGGAAGATTCCATT TTGCTGACTTATGACAGCCTTTGCTTCTCTTTTCAAAACTGATGTGAGCC CCTGGGGCTCAGCTTTCACTCTGTTGGTGAGAACTATGCCGGTGTTCTGA AGTGGGGTGCACAGTTTCCAGGGAGTCTGTTCTTGAGTTGGGTTGCTGTA GAGTCA	T T	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0082 a0002c0008t0003g0082	1	306	0.0033	-1305	c.557 others(20): Show c.5574-10104_5574-8800del	TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	5/22			chr10	TogoVar
MOCOS_chr18_36182497_36277157	36252751	TGGCATTT others(1297): Show TGGCATTTGACCATATATGGACTGAAAACTGGGTCTAAGGCCCTGCATAG TTTAACCTACAAATCCCTGAAAGTGTATGCTATAGAGAGGAGTCAAAGGA TGTAATGTACTTAGAGTTTTTAAAGTTCTGATGATTTTCACGCCATAAGC TGTTAAGAATTTGAGTTGCTGTGTGATAGAAAAGGGGAATAGATTTATAC TCATTTTATTGAAGTTAGATGGTGGTGGTTGGGGTATGGATAAGCTTAGA GACATGATTAAAGGGAGAGAGAAATAGGCATTTCCAGGGGTAGAGGCATG AAAGGAGTAGGATTTGTCAGGACCTGTGTACCACCCTTGTAAATTATCTG GAGAAGTGAGCAGCAGTGAAATCTCTAAGTGCCAATTATTCATAGCACCC ATTGCCTACCTGGGGTTTACTGGGTTTCAGGAGGCTGGCTGAGATAGTTA AGCCTTAGTCCTGGTCCTTTGGAGTCTCCGTTGGTGAGATCAATTGCCAG CAGATAGCAATGCTGCAACGTAAGAGATGTAATAAAGGTCTATGCGAAGG GCAGAATCCTCTACACCTGGAATGAGTCACAGAGGGCTTCAGGGAGGAGG TGAGTTTGGAGCTGCAACTTAAAAGGAGAGTAGGAGGCCAGGCGCGGTGG CTCACGCCTGTAGTCCCAGGACTTTGGGAGGCCGAGGCGGGCAGATCACG AGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCT ACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAAGTGCCTGTAATCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGA GGTTGCAGTGAGCCAAGACCACGCCACTGCACTCCAGCCTGGTGATAGAG CAAGACTCTGTCTCAAAAAAAAAAAAAAGGAGAGTACGAATTTTTCAGGC AGTCACAGGCGGGATGGTTACCAGGGAGCAGCATGGCAGGGCTTGGCATT CATGGGCTCAGAGAAGGGTTTAGAGGGTCAGATGTGAGCAGGGGAGTGAC GGGGGATAGATGGGGAGAAGGGTTGAGTGTGCCACTGAGGAGTCAGTAGT CCTTTACCTGTGGCTGCGGAACTCACTGGAGGATTCTAAGCCGAGAAGCT TCATAACACTGCTTATGTTAGAAAGTCAGCCCTGACTTGGCGAGGTGGCT GCATCGAGTGGGAAACTCAGGCAGTAAAGGCACAGGTGGGAGGCAGCTGG GACTGTCCTGGTGGGAGATGGGGCCTTGGTGGAACAAAGGTGGTAGGTGC AGAGG	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	358	0.0028	-1304	c.216 others(19): Show c.2164+1469_2164+2772del	MOCOS	ENSG00000075643.6	transcript	ENST00000261326.6	protein_coding	11/14			chr18	TogoVar
ZPBP_chr7_49932441_50098246	50065174	TGGATATC others(1297): Show TGGATATCTTAAGAGTTCCTCTTGCTTTAGAGGAATTAGAAAGAGGAAGG CTTGATTGTTTTTAACACACATGCCCTCATCCATTTAGCCAGCAGTTGCC AATATGCCCATGTTCAACAGATCTAATACAGGCCAGAGGGTGCCTTCCAA GCATTTGGAGCCTCTAGTTGATCTCAAGAGTGGCTTAGAGTAGAGAATCA AGAGAAAGGGTTTGGATCTGGTAAGTAGGAGTCATTCTGGGCGTTTCTCC GTAGAGTTTTGTTATTAGTCTTATTATAATATTGTTGCCTTGGGCAGGTT GTTTTTCCTACTGCTTCTGTGAAAGCCTTTTCTTATCAGGCGATACAGTA CTTTTCAATTATGGAGGTTTTTAACAACTAAACACTGGCTGAGGCTGTTG GTTCACTGACTGGGTTAGGTGAAGTGAAGTGATCTTGTGGCATTAATTTT TTTGCCTCCCATGGCCACTGGTCTCCCATTTTTGTTTCTCCACATACATA GTATGAGGAAATTCTTAAGCTGCCAGCTATGTTTTCAGCTAGTTGAGCAA ATATCGTTTTGGTTGATGGGAGAAGCTCAGGCACTGACTGATTAAAATGC TTTTAGAATGACTTATGGACCTGGAATTGCAGGGTTGGATGCATTTGAGT CCTTCTAGTCTTTTTGACAATTAGTAGTGGAACTCCAAGGCCTGTTCCTT TTAACTTGTAACAGTGCTGTCTGTCCTGTAGACCAAAAAGGTAGCTCTGG CTTTAAGACAGTAAAATTTAAAGAACTGCATGTCCTTGTCTTACAATTTC ATTTGGTTGACATACTACTTAGTAGAGCAGTCTTTCCTGAATATAAGTGT TGGAGCTGTGTTAGCGTATTCCACTGAATGTTACAGTCTGGGCATCCAAT TTGTGGTTTTCTGTACAGATGTTTAGGGCTGCTGCTGCTTAAGCCTCTCT TGTGTTAAACCATTGCAGACTGCTTCTGATTGTTTTAGGATTATGAACAT ATGCAGCATGGCAGGCATCAAAGTACAAGGAAATAGGCCTTTTATAGGAG AGAGGGTCTTCTTTGGTTTGAGCTATAAGCTCTCTTTCTTTTTTTTTTTT CTCTGATTTAATATGTGTTTTAAACCAGAATTTATAGGTTAAGAGCTTAG GGTCATAACATACATATAGCTGATTATTTCCTGGGTCACAGACTGAATAG GTGGTCTGGTTGTATGTGCAGGTTCCTAACCTGGTTCCTGTATATTTATA GTAGGTATGGTAGAGTTGTAACTATGGTATTCCTTACCCAGGTAGTGTCT ACACA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01891.hp2 HG02622.hp2 others(12): Show HG00280.hp2 HG01891.hp2 HG02622.hp2 HG02717.hp2 HG02922.hp1 HG02965.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG04199.hp1 HG06807.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(12): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0004t0001g0237 a0001c0004t0001g0238 a0001c0004t0001g0239 a0001c0004t0001g0253	15	278	0.0540	-1304	c.335 others(17): Show c.335-8337_335-7034del	ZPBP	ENSG00000042813.8	transcript	ENST00000046087.7	protein_coding	3/7			chr7	TogoVar
SUCLG2_chr3_67369719_67659612	67521532	ATTGCAGT others(1296): Show ATTGCAGTAATGGAATAATCCTACATGTGGAAGCACATTATATACAACAG GATGCCTTTCTTTTTTTTAATCTTTTTTTTTTTTAAAAAAAGACAGAGTC TCACTCTGTCACTGAGGCTGTAGTGCAGTGGCACGATCTCAGCTCCCTAC AACCTCTGCCTCCCTGCAACCTCTGCCTCCCATGTTCAAGCAATTCTCAT GCTTCAGCCTCCCGAGTAGCTGGGCTTACAGGTGCCTGCCACCATGCTTG GCTAATTTTTGTATTTTTAGTAGAGATGGGGATTCACCATGTTGGCCAGG CTGGTCTTGAACTGCTGACTTCAAGTATCTACCTGCCTCAGCCTACCAAA CTGCTGGGATTACAGAGGTAAGCCACCACGCCTGGCCTCTTTTTTAAAAT CTTAATACTACAACTTAAATATCTTTCTAAGGTCTTCTCTCTTCATTGTG ATTACATGGTATTTATATGACAATATTTATTTAACCATGTTCCTGCATTT ATTTATTTATTTATCTATTTATTTATTTGTTTATTCATTTTGAGATGGTC TTGCTGTGTTGCTCTCAGGCTGGAGTGCAATGGCACAATCGTGGCTCACT GCAGCCTTGACCTCCCAGGTTCAAACGAATCTCCTGAGTAGCTGAAACTA CAGGCACGTGCCTCCATAGCCACTTAATTTTTGCTTTATTTTTTGTAGAG ATGGGGTCTTGCTATGTTGCCCAGGCTGATCTCAAACTCCTGGACTCAAG CAATACACTCGCCTAAGATTCCCAAAGTGTTGGGATTACAGGCATGAGTC ATGGTGCCTGGCCTGCTGACAGACATTTACATGAACTTCAATTTTCCTAA AATGCTACTTTAGTGAGTATTTTTGTACATGTATCTTTGTTCATTTCTTT TAGTATCCCTGTAGATAAGTATCCTAAAAGTGAAATGTCTAGGTTTTAAA CTGTGAATATTTAAAATGTTGATAAGTACTGTCAAAGTGCTTGAGAGAGG TTGTTCCAACTTACGCACCTAACAAGAACAGTGAAAGATATCTTGGATGT TTAAAGAATATAAAAACAATCCCATAAATAATCAGTAATAGATGTGAAAA CAATGAAAGCACTAACATTGCTTTTCTTTCTTTTTTTTTTTTTTTTTGTT GAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCTGCCTACCAGATTTACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCGGCTAAT TTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03098.hp2 HG00735.hp1 HG03098.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0017 a0001c0004 a0003c0017	a0001c0004t0004 a0003c0017t0005 a0001c0004t0004 a0003c0017t0005	a0001c0004t0004g0259 a0003c0017t0005g0262 a0001c0004t0004g0259 a0003c0017t0005g0262	2	280	0.0071	-1303	c.418 others(16): Show c.418-2201_418-899del	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	4/10			chr3	TogoVar
ZFYVE1_chr14_72964451_73032106	72999154	TGCGGTGG others(1296): Show TGCGGTGGCTCACACCTGTAATCCCAACACTTTGTGAGGCCAAGGCAGGC AGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGACAAA CCCCATCTCTACAAAAATACAAAATTAGCTGGGCATGGTGGCACATGCCT GTAATCCCAGCTACTCAGGAGGCTATGGCAGGAGAATCACTTGAACCCGG GAAGCAGAGGTTGCAGTGAGCAGCGATCGCACCATTGCACTCCAGCCTGG GCAACAAGAACGAAACTCCATTTCAAATCAATAAATAAATACATAGCTGA GTGCATGCCTGTAGTCCCAGCTACTGCAGAGGCTGAGGTGGGAAGATGGC TCAAGCCCAGGAGTTGGAGGTTACAGTGAACTGTGATCCAGACTGGATGA CAAAGTAAGACCTTGACTCAAAAAAAAAAAAGACAATGAAAAGACAACTT ACAGAATGGAAGAAAACATTTGTAGATCAAATATCTGATAAGGAGCCAGG CATGGTGGCATCCATTTGTAATCTCAGACACTCAACAAGGCTGAGGCAAG AGGATCACTTGAGCCCAGGAGTTTACAGCCACCCTGGGAAACAGTGTCAT CCGCCTCATTAAAATAAACAAAGAGGCGGGGCATGGTAGCTCATGTCTGT AATCTCAGCACTTTGGGAGGCCCAGAGGGGCAGATCGCGTGAGGCCAGGA GTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCGTCTCTACTAAAAA CACAAAAATTAGCAGAGTGTGGTGGCACATGCCTGTAATCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGACTGCAGTG AGCCGAGATTGTGCCACTGCACTCCAGTCTGGGTGACAGAACAAGAACCT GTCTCAAAAAATAAAATAAGATAAAATAAAATAAAATAAATCTAATAAGA CTAGTATTCCAAACATACAAAGAAATCTTACAACTCAACAATGAAGATAA GCAACCCAATTAAAAAGTAAGCAAAGAATTTGAATAGACATTTCTCCATA AAAGATATGCAAGCAACCAATAAGCATCTGAAAAGATGCTCCAAGTCCTG AGTCATTAGAGAAATGCAAAGCAAAACTACAGTGAGCTATCACTTCATAT CCACAAGACAACAAACGGCTGGGAGCAGTGGCTCAGGCCTATAATCCCAG TACTTTGGGAGGCAAAAAAGAGAGGATAGCTTGAGGCCAGGAGTTTGAGA CCAGCCTGGCCAACATGGTGCGACCTCTGTCTCTATAAAAAAAATTAAAA ATTA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	374	0.0027	-1303	c.484 others(16): Show c.484-2142_484-840del	ZFYVE1	ENSG00000165861.14	transcript	ENST00000556143.6	protein_coding	2/11			chr14	TogoVar
DDX51_chr12_132131594_132149319	132134790	TCCCGAGT others(1295): Show TCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCC ACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCT CCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTG TGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCC ACTCCTCCCACCTCTCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTC CCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCC CACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTATG CCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTC CTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGA GTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCC CGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCT CCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCC ACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCC TCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAG TGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCC ACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCAC GGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTC CCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTG CCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCC TCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGT GTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGC TCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCC GAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTG CCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCAC CTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0021 a0021	a0021c0031 a0021c0031	a0021c0031t0040 a0021c0031t0040	a0021c0031t0040g0086 a0021c0031t0040g0086	1	334	0.0030	-1302	c.31 others(11): Show c.3180_*4481del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1803		chr12	TogoVar
RIPK1_chr6_3063494_3120187	3092882	CGCACCTA others(1295): Show CGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGC GCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCT AGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTA CCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACC GCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCG CACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGC GCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCG GAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACC TGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTA ACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTG CCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAG AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACTG CAGAGCGCCTACCTGCCGCACCTAGTAACTGCAGCGCGCCTACCTGCCGC ACCTAGTAACTGCAGCGCGCCTACCTGCCGCACCTAGTAACTGCAGCGCG CCTACCTCCTGCACCTAGTAACTGCAGAGTACCTACCTGCCGCACCTAGT AACTGCAGAGTACCTACCTGCCGCACCTAGTAACTGTAGCGTACCTACCT GCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0029 a0001c0004t0001g0029	1	340	0.0029	-1302	c.915 others(17): Show c.915+3238_915+4539del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
A4GALT_chr22_42687121_42725870	42706295	TAGTGAGC others(1294): Show TAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAG ACTCCATCCCAAAAAAAAAAAAAAAAAAAAAAAGTTTCACCCACTAATCT TGAAGGAGAAAAAGATTTTTAGATTAGATTTCAAGCATAACCTGTAACCT ATCTCTATTCTCTATTCAAGAGACATACCTTAAACGAAGTAACTTAGAAT GGTTAAAAATATAAGAACAGCCGGGTGCGGTCGCTTACGCCTGTAATCTC AGCACTTTGGGAGGCCAAGACGGGTGGATCACCTGAGGTCAGGAGTTCGA GACCAGCCTGACCAACAAGGTGAAACCCGTTCTCCACTAAAAATACAAAA ACTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGACAGGAGGATTACTTGAAACTGGGAGGCGGAGGTTGCAGTGAGCCA AGATTACGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTCCATCTC AAAAAAAAAAAAATTAAAAAAAGAACAAGCAAAGATATAAAAGCAAATGC AAACAAAATGCTGGGGCAAAAATCTTAATATAAAATGATGCAAAATCACA ACAAACCTCACTAAATTAGCCAAAGAAGGGCAATTTATTATGCTAACGGT ATAATTCATAATGCATCAAATAATACTGTAGCAATTTTCAGAATAGAAAA ATTACAGATACTAGGATAAATATATCAAAACACTAATAAGAGATTTTAAT TTACCACTTTCAGTTCAAGAAACATTAAGTAGCATGAACAGAAATAAGAA TTCAGAAGACCCAAATAAGATAATCAGTAAGGTACTATAATATTTCAAAC TCTCTACCCTAGTGATAGATACTGTGCTTTCTTTTCAAGAGCTGAGCTGA TGGAACAGTCATGAAATCTGACCATATTCAGTCCAAAGAAAATGTCAATA ACATCCAAAAAATATTTTAAAAATTTATGATTATGAAGCAATATGACTAG AAATTAATTTAAAAATCGGGAATTTTTTAAAAAATTTTATCTATGGGATT CCTAGCAAATAAAAATAATAAAAACACCAGGCTGGGCATGGTGGCTCATG CCTGTAATCCCATCACTTTGAGAGGCCGAGGCAGTCGGATCAGTTAAGGA CAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCAGTCTCTACTA AAAATACAACAAATTAGCCAGGCATGGTGGCACATGCATGTAGTCCCAGC TACCTCGGGAGGCTGAGGCACGAGAATTGCTTGAATGGGAGGCAGAGGTT GC	T T	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	406	0.0025	-1301	c.-18 others(21): Show c.-187-11965_-187-10665del	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
DENND1A_chr9_123374658_123935126	123404553	CTCCTGCC others(1294): Show CTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGG CACACACTCCACCTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGG AAGGGAAGCAGGCACACACTCCACTTCCTGCCCACCCTTTGAGTTTCCAG GACAAGACAGGGAAGGGAAGCAGGCACACACTCCACTTCCTGCCCACCCT TTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACACTCCACTT CCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCA CACACTCCACTTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAA GGGAAGCAGGCACACACTCCACTTCCTGCCTACCCTTTGAGTTTCCAGGA CAAGACAGGGAAGGGAAGCAGGCACACACTCCACTTCCTGCCCACCCTTT GAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACACTCCACTTCC TGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACA CACTCCACTTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGG GAAGCAGGCACACACTCCACCTCCTGCCCACCCTTTGAGTTTCCAGGACA AGACAGGGAAGGGAAGCAGGCACACACTCCACCTCCTGCCCACCCTTTGA GTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACACTCCACTTCCTG CCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACA CTCCACTTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGA AGCAGGCACACACTCCACTTCCTGCCCACCCTTTGAGTTTCCAGGACAAG ACAGGGAAGGGAAGCAGGCACACACTCCACTTCCTGCCCACCCTTTGAGT TTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACACTGCACTTCCTGCC CACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACACT CCACCTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAGC AGGCACACACTCCACCTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACA GGGAAGGGAAGCAGGCACACACTCCACTTCCTGCCCACCCTTTGAGTTTC CAGGACAAGACAGGGAAGGGAAGCAGGCACACACTCCACTTCCTGCCCAC CCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACACTCCA CT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0020 a0001c0002t0004g0020	1	162	0.0062	-1301	c.154 others(19): Show c.1543-2364_1543-1064del	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	20/23			chr9	TogoVar
CNN2_chr19_1021608_1044065	1033655	AGTGTCTG others(1293): Show AGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAG ACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGG TGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTG GTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCG TGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTG TCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGG GGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGAC ACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAG ACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGG TGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACATTGTCTG GTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCG TGGGTGGGACACGGTGTCTGGTGTAGACGGTAAGCGTGGGTGGGACACGG TGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCG GGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGG ACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGT AGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTG GGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTC TGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAG CGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGG TGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGAC GGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGG ACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGT AGACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTAGACCGGGAGCGTG GGTGGGACGGTGTCTGGTGTAGACCGGGAGCATGGGTGGGACACGGTGTC TGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGG AGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACAC G	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0157 a0001c0007t0001g0157	1	390	0.0026	-1300	c.390 others(16): Show c.390+993_391-1142del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
D2HGDH_chr2_241729630_241773811	241765555	GTTGGGGA others(1293): Show GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA C	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0245 a0001c0001t0003g0245	1	412	0.0024	-1300	c.130 others(18): Show c.1307-1904_1307-605del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766055	CTTGGGGA others(1293): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA G	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02615.hp1 HG03540.hp1 HG01496.hp1 HG02615.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0032 a0002c0002 a0002c0032	a0002c0002t0003 a0002c0002t0015 a0002c0032t0015 a0002c0002t0003 a0002c0002t0015 a0002c0032t0015	a0002c0002t0003g0081 a0002c0002t0015g0135 a0002c0032t0015g0076 a0002c0002t0003g0081 a0002c0002t0015g0135 a0002c0032t0015g0076	3	412	0.0073	-1300	c.130 others(18): Show c.1307-1627_1307-328del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS12_chr13_51762993_51809163	51774565	TCTCCTAC others(1293): Show TCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACAT GTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTA TTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTACTACATGT ATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCT CCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTA TTCTACAGTATTCTCCTACATGTATTCTCCTACATGTATTCTCCTACAGT ATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGT ATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTAT TCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTC CTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATT CTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTAT TCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACAT GTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTA TTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTACTACATGT ATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCT CCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTA TTCTACAGTATTCTCCTACATGTATTCTCCTACATGTATTCTCCTACAGT ATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGT ATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTAT TCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTC CTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATT CTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTAT TCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACAT GTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTA TTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGT ATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCT C	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	2	420	0.0048	-1300	c.363 others(16): Show c.363+1195_364-532del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
ERC1_chr12_986223_1500931	1085964	GTTGTTGT others(1293): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGC AATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGT GCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATT GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGA TTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTG TTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTA TTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATG CCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACA GGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAA AGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATT A	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00738.hp2 others(19): Show HG00408.hp1 HG00544.hp1 HG00738.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01981.hp2 HG02129.hp2 HG02572.hp2 HG02615.hp2 HG02976.hp2 HG03927.hp2 NA18612.hp2 NA18949.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0004c0005	a0001c0001t0007 a0001c0001t0011 a0001c0001t0040 others(18): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0040 a0001c0001t0049 a0001c0001t0058 a0001c0001t0087 a0001c0001t0108 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0119 a0001c0001t0124 a0002c0002t0005 a0002c0002t0035 a0002c0002t0105 a0002c0002t0115 a0003c0004t0003 a0003c0004t0009 a0003c0004t0010 a0003c0004t0096 a0004c0005t0122	a0001c0001t0007g0044 a0001c0001t0007g0048 a0001c0001t0011g0034 others(19): Show a0001c0001t0007g0044 a0001c0001t0007g0048 a0001c0001t0011g0034 a0001c0001t0040g0150 a0001c0001t0049g0157 a0001c0001t0058g0141 a0001c0001t0087g0046 a0001c0001t0108g0064 a0001c0001t0112g0052 a0001c0001t0113g0062 a0001c0001t0114g0051 a0001c0001t0119g0061 a0001c0001t0124g0050 a0002c0002t0005g0133 a0002c0002t0035g0143 a0002c0002t0105g0148 a0002c0002t0115g0049 a0003c0004t0003g0058 a0003c0004t0009g0059 a0003c0004t0010g0053 a0003c0004t0096g0063 a0004c0005t0122g0057	22	162	0.1358	-1300	c.108 others(19): Show c.1086+2394_1086+3693del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMOC2_chr6_168436184_168672992	168560870	GAGGCTCT others(1293): Show GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGAC ACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAG ACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCC TGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATAC CCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTC GGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTC TTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCAT TCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGC GTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACAAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGA GGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC A	G G	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	180	0.0056	-1300	c.637 others(19): Show c.637+11732_637+13031del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM151A_chr11_66286894_66301664	66298843	CCTGGGCG others(1293): Show CCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAGAAAAGAAAAAGAAA ATTGTAGCCACATGCTGAAGACAGCAGAGCAACAAGGGAAAAGATCCTGG GCTTCTGATGACACCATGCAAGTTTCCATGTCATCCCTTGGGTCGCCTAC CTCCAGACTTCAATGAGAAAGAGAAATAAACTGTAAGTCTGCTTAAGCCC ATTGCTTTTTTTTTTTGTCTCTGTTACCAGCAGCTTTTACCAATTATCTA CTGCCACATAACAAATTATCCTAACCCTAGTGGCTTAAAAGAGCAATAAT TATTATGCTCTCTCCTGGCTTCTGTGGGTCAAGAACTCAGATAGGACACA ATGGGGATGGCTTCTATGCTCCACGACATCCAGGGCCTCTGCTGGAAGAC TCAAAAGCTGGGGCTTGAATCATCTGAATGCTCATTCACTCACATGTCTG GCAGTTGATGCTGGCTGAGGGCTGAGGGCTGAGAGCCTAACTAGGGCTGT TGGTGGGAACACCCACACAGGTCCTCTCCAAGCGGCTTGACCTTCCTCAT AACATGGTGGCTAGGTTCCAAGAACAAGTATACTGAGAGGGTGAAAGCTG TATTGCACTTTGTGATCTAGCCTCCTAAGTCACATGGCATCACTTCTGCC CCTTTCCATCGGTCAAGGCTACTATGAAGGTCCACTCAGTTTCAAGGGGA GGGAATATAGGATCTCATCTCTCTGTGGAGGCTTGTCAATGTCACATTGT TAGAAAAGCATGCGGGATGGGAGATATATTAGTGGTCATCTTCAAAAATG CAATCAACTGCTGAGCCAAATGCCATTTGCCATTCCTAACTGATTGATAC CTGTAAAGTGATCTGCAAAATGAACACCAAGCTCTTTATAGTGCTGGTTT AAGGAAGGAAGGTGGTGGCATGTCAGATATGGGCCTGCTCAGGGCAAAGT GAGCTGCTCAGATCATTTATGGGGACCTTCAGGCCTATGGTAGATTAAAT ATGGCCACAAATTCTTTGCCACTCCTCTCCTCAAGAGGTGGAATCAGGCC GGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCA GGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTG AAACCCCAACTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTG CACCTGTAGTCCCAGCTACCTAGGAAGCTGAGACAGGAGAATCACTTGAA CCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAG G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	450	0.0022	-1300	c.31 others(11): Show c.3191_*4490del	TMEM151A	ENSG00000179292.5	transcript	ENST00000327259.5	protein_coding		2180		chr11	TogoVar
ZNF516_chr18_76352682_76500242	76393449	AGGCAGGT others(1293): Show AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAG GGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTG GTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA G	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0219 a0001c0001t0033g0219	1	346	0.0029	-1300	c.181 others(21): Show c.1811-14446_1811-13147del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar

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Search Results (Total: 2609 hits)