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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MYOM2_chr8_2040046_2150456	2085500	TGTGATCT others(309): Show TGTGATCTCCGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACT GTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACT GTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCC CACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCC CCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTG GCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTG CGTGGCCCCCCACAGTC	T T	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19091.hp1 NA18947.hp2 NA19091.hp1	a0014 a0047 a0014 a0047	a0014c0044 a0047c0202 a0014c0044 a0047c0202	a0014c0044t0001 a0047c0202t0001 a0014c0044t0001 a0047c0202t0001	a0014c0044t0001g0357 a0047c0202t0001g0166 a0014c0044t0001g0357 a0047c0202t0001g0166	2	403	0.0050	-316	c.164 others(17): Show c.1644+119_1644+434del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086178	GCCCCACT others(309): Show GCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTCATGATCTCTTTGTG GCCCCCCACTGTTGTGATCTTTGCGTGGCCCCACTGTCATGATCTCTGGC ACCCCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCTGCG TGGCCCCCCACTGTTGTGATCTCTGCGTGGCCTCCCACTGTTGTGATCTC TGCGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCCTCCCACTGTTGTGA TCTCTGCGTGGCCCCCTACTGTCGTGATCTCCACGTGGCCACACACTGTC ATGATCTCTGTGTGGCC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0032 a0032	a0032c0071 a0032c0071	a0032c0071t0001 a0032c0071t0001	a0032c0071t0001g0121 a0032c0071t0001g0121	1	403	0.0025	-316	c.164 others(18): Show c.1644+799_1644+1114del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NDFIP2_chr13_79476155_79561077	79507257	TTCTGATT others(309): Show TTCTGATTGAGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(191): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18991.hp2 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp2 NA19080.hp1 NA19085.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0006t0006 a0002c0002t0003 a0003c0003t0005 a0003c0003t0010 a0004c0004t0007	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(167): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0242 a0001c0001t0003g0006 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0241 a0001c0001t0004g0003 a0001c0001t0004g0009 a0001c0001t0004g0020 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0136 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0215 a0001c0001t0006g0013 a0001c0001t0006g0074 a0001c0001t0006g0075 a0001c0001t0006g0076 a0001c0001t0006g0090 a0001c0001t0006g0092 a0001c0001t0006g0243 a0001c0001t0008g0130 a0001c0001t0008g0131 a0001c0001t0008g0132 a0001c0001t0011g0014 a0001c0001t0015g0078 a0001c0001t0016g0110 a0001c0001t0017g0094 a0001c0001t0018g0137 a0001c0001t0019g0135 a0001c0001t0020g0007 a0001c0001t0021g0073 a0001c0006t0006g0084 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0144 a0002c0002t0003g0145 a0002c0002t0003g0146 a0002c0002t0003g0147 a0002c0002t0003g0148 a0002c0002t0003g0149 a0002c0002t0003g0150 a0002c0002t0003g0151 a0002c0002t0003g0152 a0002c0002t0003g0153 a0002c0002t0003g0154 a0002c0002t0003g0160 a0003c0003t0005g0010 a0003c0003t0005g0029 a0003c0003t0005g0030 a0003c0003t0005g0031 a0003c0003t0005g0032 a0003c0003t0005g0033 a0003c0003t0005g0036 a0003c0003t0005g0037 a0003c0003t0005g0038 a0003c0003t0005g0039 a0003c0003t0005g0040 a0003c0003t0005g0041 a0003c0003t0005g0042 a0003c0003t0010g0034 a0003c0003t0010g0035 a0004c0004t0007g0127 a0004c0004t0007g0128 a0004c0004t0007g0129 a0004c0004t0007g0141	194	286	0.6783	-316	c.322 others(19): Show c.322-13537_322-13222del	NDFIP2	ENSG00000102471.16	transcript	ENST00000218652.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
ODAD2_chr10_27807168_28004079	27823846	TAAAAATA others(309): Show TAAAAATAGTTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00673.hp1 others(79): Show HG00597.hp1 HG00609.hp1 HG00673.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01258.hp2 HG01261.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG02109.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03942.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18961.hp2 NA18967.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18994.hp1 NA18999.hp2 NA19006.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0013 a0014 a0017 a0019 a0020	a0001c0001 a0001c0002 a0001c0010 others(18): Show a0001c0001 a0001c0002 a0001c0010 a0001c0014 a0001c0021 a0001c0034 a0002c0003 a0003c0004 a0004c0007 a0004c0037 a0005c0013 a0005c0019 a0005c0024 a0007c0006 a0007c0029 a0008c0012 a0013c0025 a0014c0026 a0017c0031 a0019c0022 a0020c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0010t0001 a0001c0010t0002 a0001c0014t0002 a0001c0014t0005 a0001c0021t0004 a0001c0034t0001 a0002c0003t0002 a0003c0004t0001 a0004c0007t0002 a0004c0037t0001 a0005c0013t0001 a0005c0019t0002 a0005c0024t0002 a0007c0006t0001 a0007c0029t0001 a0008c0012t0001 a0013c0025t0005 a0014c0026t0001 a0017c0031t0001 a0019c0022t0001 a0020c0023t0001	a0001c0001t0001g0008 a0001c0001t0001g0084 a0001c0001t0001g0116 others(78): Show a0001c0001t0001g0008 a0001c0001t0001g0084 a0001c0001t0001g0116 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0002g0104 a0001c0001t0002g0196 a0001c0001t0004g0198 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0002t0001g0003 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0261 a0001c0002t0002g0001 a0001c0002t0002g0093 a0001c0002t0002g0097 a0001c0002t0002g0111 a0001c0002t0002g0262 a0001c0002t0002g0266 a0001c0002t0002g0270 a0001c0002t0004g0294 a0001c0010t0001g0200 a0001c0010t0001g0201 a0001c0010t0001g0202 a0001c0010t0001g0203 a0001c0010t0002g0199 a0001c0010t0002g0265 a0001c0014t0002g0260 a0001c0014t0005g0213 a0001c0021t0004g0192 a0001c0034t0001g0142 a0002c0003t0002g0169 a0002c0003t0002g0172 a0003c0004t0001g0029 a0003c0004t0001g0044 a0003c0004t0001g0046 a0003c0004t0001g0047 a0003c0004t0001g0048 a0003c0004t0001g0051 a0003c0004t0001g0217 a0003c0004t0001g0218 a0003c0004t0001g0219 a0003c0004t0001g0220 a0003c0004t0001g0221 a0003c0004t0001g0222 a0003c0004t0001g0223 a0003c0004t0001g0224 a0003c0004t0001g0228 a0003c0004t0001g0230 a0003c0004t0001g0231 a0003c0004t0001g0232 a0003c0004t0001g0239 a0003c0004t0001g0243 a0003c0004t0001g0244 a0004c0007t0002g0102 a0004c0037t0001g0204 a0005c0013t0001g0103 a0005c0019t0002g0190 a0005c0024t0002g0214 a0007c0006t0001g0032 a0007c0006t0001g0038 a0007c0006t0001g0039 a0007c0006t0001g0040 a0007c0006t0001g0057 a0007c0006t0001g0060 a0007c0006t0001g0063 a0007c0006t0001g0077 a0007c0006t0001g0081 a0007c0006t0001g0082 a0007c0006t0001g0233 a0007c0029t0001g0166 a0008c0012t0001g0186 a0013c0025t0005g0138 a0014c0026t0001g0050 a0017c0031t0001g0034 a0019c0022t0001g0167 a0020c0023t0001g0178	82	304	0.2697	-316	c.302 others(21): Show c.3022-11537_3022-11222del	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	19/19			chr10	TogoVar
PDLIM5_chr4_94446942_94673223	94577813	AAACTCTT others(309): Show AAACTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(206): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0006 others(12): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0002c0003 a0003c0004 a0003c0007 a0003c0011 a0004c0005 a0006c0010 a0007c0014 a0008c0013 a0009c0015 a0010c0012 a0011c0016	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(54): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0029 a0001c0001t0035 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0018 a0001c0002t0023 a0001c0002t0026 a0001c0002t0033 a0001c0002t0037 a0001c0002t0038 a0001c0006t0006 a0001c0006t0013 a0001c0006t0024 a0001c0006t0036 a0001c0009t0002 a0001c0009t0008 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0006 a0002c0003t0012 a0002c0003t0015 a0002c0003t0022 a0002c0003t0025 a0002c0003t0027 a0002c0003t0039 a0003c0004t0001 a0003c0004t0004 a0003c0004t0011 a0003c0004t0016 a0003c0004t0032 a0003c0004t0034 a0003c0007t0001 a0003c0007t0016 a0003c0007t0019 a0003c0011t0001 a0004c0005t0001 a0004c0005t0011 a0006c0010t0009 a0007c0014t0031 a0008c0013t0016 a0009c0015t0028 a0010c0012t0010 a0011c0016t0007	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0085 others(206): Show a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0181 a0001c0001t0004g0031 a0001c0001t0004g0039 a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0064 a0001c0001t0004g0077 a0001c0001t0004g0111 a0001c0001t0004g0142 a0001c0001t0004g0154 a0001c0001t0004g0196 a0001c0001t0004g0208 a0001c0001t0004g0213 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0005g0183 a0001c0001t0005g0189 a0001c0001t0005g0198 a0001c0001t0006g0055 a0001c0001t0006g0180 a0001c0001t0007g0104 a0001c0001t0007g0105 a0001c0001t0007g0106 a0001c0001t0007g0108 a0001c0001t0007g0109 a0001c0001t0007g0110 a0001c0001t0007g0197 a0001c0001t0008g0182 a0001c0001t0009g0103 a0001c0001t0009g0179 a0001c0001t0014g0005 a0001c0001t0014g0177 a0001c0001t0014g0178 a0001c0001t0017g0089 a0001c0001t0017g0090 a0001c0001t0020g0165 a0001c0001t0020g0195 a0001c0001t0029g0058 a0001c0001t0035g0023 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0032 a0001c0002t0002g0037 a0001c0002t0002g0051 a0001c0002t0002g0066 a0001c0002t0002g0080 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0088 a0001c0002t0002g0091 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0002t0002g0127 a0001c0002t0002g0138 a0001c0002t0002g0155 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0184 a0001c0002t0002g0212 a0001c0002t0003g0128 a0001c0002t0003g0216 a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0005g0190 a0001c0002t0005g0191 a0001c0002t0008g0134 a0001c0002t0008g0135 a0001c0002t0008g0148 a0001c0002t0008g0167 a0001c0002t0018g0131 a0001c0002t0018g0159 a0001c0002t0023g0150 a0001c0002t0026g0078 a0001c0002t0033g0151 a0001c0002t0037g0117 a0001c0002t0038g0065 a0001c0006t0006g0041 a0001c0006t0006g0042 a0001c0006t0006g0043 a0001c0006t0006g0057 a0001c0006t0006g0097 a0001c0006t0006g0164 a0001c0006t0013g0060 a0001c0006t0013g0096 a0001c0006t0013g0098 a0001c0006t0013g0099 a0001c0006t0024g0022 a0001c0006t0036g0174 a0001c0009t0002g0012 a0001c0009t0002g0014 a0001c0009t0008g0020 a0002c0003t0001g0140 a0002c0003t0001g0146 a0002c0003t0002g0194 a0002c0003t0003g0018 a0002c0003t0003g0029 a0002c0003t0003g0036 a0002c0003t0003g0045 a0002c0003t0003g0052 a0002c0003t0003g0056 a0002c0003t0003g0062 a0002c0003t0003g0070 a0002c0003t0003g0130 a0002c0003t0003g0132 a0002c0003t0003g0137 a0002c0003t0003g0139 a0002c0003t0003g0145 a0002c0003t0003g0149 a0002c0003t0003g0156 a0002c0003t0003g0161 a0002c0003t0003g0162 a0002c0003t0003g0169 a0002c0003t0003g0193 a0002c0003t0003g0199 a0002c0003t0003g0200 a0002c0003t0003g0206 a0002c0003t0005g0192 a0002c0003t0006g0124 a0002c0003t0006g0126 a0002c0003t0012g0092 a0002c0003t0012g0095 a0002c0003t0012g0133 a0002c0003t0012g0207 a0002c0003t0015g0147 a0002c0003t0015g0163 a0002c0003t0015g0205 a0002c0003t0022g0185 a0002c0003t0025g0050 a0002c0003t0027g0158 a0002c0003t0039g0157 a0003c0004t0001g0013 a0003c0004t0001g0015 a0003c0004t0001g0019 a0003c0004t0001g0024 a0003c0004t0001g0026 a0003c0004t0001g0030 a0003c0004t0001g0034 a0003c0004t0001g0040 a0003c0004t0001g0061 a0003c0004t0001g0063 a0003c0004t0001g0073 a0003c0004t0001g0074 a0003c0004t0001g0075 a0003c0004t0001g0076 a0003c0004t0001g0093 a0003c0004t0001g0102 a0003c0004t0001g0107 a0003c0004t0001g0114 a0003c0004t0001g0120 a0003c0004t0001g0123 a0003c0004t0001g0129 a0003c0004t0001g0136 a0003c0004t0001g0152 a0003c0004t0001g0186 a0003c0004t0004g0047 a0003c0004t0011g0006 a0003c0004t0011g0027 a0003c0004t0011g0100 a0003c0004t0016g0203 a0003c0004t0032g0068 a0003c0004t0034g0079 a0003c0007t0001g0038 a0003c0007t0001g0059 a0003c0007t0001g0072 a0003c0007t0001g0094 a0003c0007t0016g0010 a0003c0007t0019g0175 a0003c0007t0019g0176 a0003c0011t0001g0035 a0004c0005t0001g0025 a0004c0005t0001g0033 a0004c0005t0001g0044 a0004c0005t0001g0049 a0004c0005t0001g0067 a0004c0005t0001g0069 a0004c0005t0001g0101 a0004c0005t0001g0122 a0004c0005t0001g0141 a0004c0005t0001g0143 a0004c0005t0001g0144 a0004c0005t0001g0153 a0004c0005t0001g0160 a0004c0005t0001g0204 a0004c0005t0011g0125 a0004c0005t0011g0168 a0006c0010t0009g0166 a0006c0010t0009g0201 a0006c0010t0009g0202 a0007c0014t0031g0021 a0008c0013t0016g0081 a0009c0015t0028g0004 a0010c0012t0010g0217 a0011c0016t0007g0028	209	218	0.9587	-316	c.710 others(17): Show c.710+1790_710+2105del	PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDZD2_chr5_31634131_32115932	32039150	GCCTGGAC others(309): Show GCCTGGACTGTACTGCCATGATCTCGGCTCGCTGCAACCTCCCTGCCTCA GGCTCCCGTGATTCTTCTGCCTCGGCCTGCCGAGTGCCTGGGATTCCAGG CACTGCGCCCCCACTCCTGATTGGTTTTTGTATTTTTGGTGGAGACGGGG TTTCGCCGCGTTGACCGGGCTGGTCTCCAGCTCCTGGCCTCAGGTGATCT GCCCGCCTCGGCCTCCCCAGGTGCTGGGATTGCAGACGGAGTCTCGCTCA CTCAATGCTCAATGTTGCCCAGGCTGGAATGCAGTGGCGTAATCTCAGCT CGCTACAACCTCCACCT	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA18979.hp1 NA19011.hp1 HG01952.hp1 NA18979.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0001c0001t0037 a0002c0003t0002 a0001c0001t0005 a0001c0001t0037 a0002c0003t0002	a0001c0001t0005g0010 a0001c0001t0037g0154 a0002c0003t0002g0092 a0001c0001t0005g0010 a0001c0001t0037g0154 a0002c0003t0002g0092	3	216	0.0139	-316	c.151 others(19): Show c.1519+1811_1519+2126del	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PEDS1_chr20_50113254_50158723	50156241	TTTTTTTT others(309): Show TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01243.hp1 others(54): Show HG00741.hp2 HG01109.hp1 HG01243.hp1 HG01261.hp2 HG01358.hp1 HG01884.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG04199.hp2 NA18522.hp1 NA18747.hp1 NA18954.hp1 NA18957.hp1 NA18966.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18989.hp2 NA18994.hp1 NA19000.hp2 NA19007.hp1 NA19079.hp2 NA19080.hp1 NA19088.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0025 others(28): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0025 a0001c0002t0088 a0002c0003t0007 a0002c0003t0015 a0002c0003t0017 a0002c0003t0021 a0002c0003t0023 a0002c0003t0027 a0002c0003t0028 a0002c0003t0032 a0002c0003t0033 a0002c0003t0034 a0002c0003t0035 a0002c0003t0036 a0002c0003t0037 a0002c0003t0045 a0002c0003t0052 a0002c0003t0055 a0002c0003t0056 a0002c0003t0058 a0002c0003t0060 a0002c0003t0064 a0002c0003t0065 a0002c0003t0071 a0002c0003t0074 a0002c0003t0075 a0002c0003t0076 a0002c0003t0078 a0002c0005t0011	a0001c0001t0002g0024 a0001c0001t0002g0253 a0001c0001t0002g0263 others(50): Show a0001c0001t0002g0024 a0001c0001t0002g0253 a0001c0001t0002g0263 a0001c0001t0002g0278 a0001c0001t0002g0288 a0001c0001t0004g0011 a0001c0001t0004g0264 a0001c0001t0004g0291 a0001c0001t0025g0281 a0001c0001t0025g0282 a0001c0002t0088g0215 a0002c0003t0007g0052 a0002c0003t0007g0053 a0002c0003t0007g0054 a0002c0003t0007g0056 a0002c0003t0007g0057 a0002c0003t0007g0059 a0002c0003t0007g0066 a0002c0003t0007g0067 a0002c0003t0007g0068 a0002c0003t0007g0069 a0002c0003t0015g0046 a0002c0003t0015g0047 a0002c0003t0017g0029 a0002c0003t0017g0033 a0002c0003t0017g0036 a0002c0003t0021g0032 a0002c0003t0021g0035 a0002c0003t0023g0045 a0002c0003t0023g0050 a0002c0003t0027g0012 a0002c0003t0028g0061 a0002c0003t0028g0062 a0002c0003t0032g0027 a0002c0003t0033g0028 a0002c0003t0034g0037 a0002c0003t0035g0034 a0002c0003t0036g0030 a0002c0003t0037g0031 a0002c0003t0045g0058 a0002c0003t0052g0049 a0002c0003t0055g0051 a0002c0003t0056g0048 a0002c0003t0058g0065 a0002c0003t0060g0043 a0002c0003t0064g0070 a0002c0003t0065g0060 a0002c0003t0071g0055 a0002c0003t0074g0044 a0002c0003t0075g0041 a0002c0003t0076g0040 a0002c0003t0078g0063 a0002c0005t0011g0064	57	366	0.1557	-316	c.-29 others(11): Show c.-2920_-2605del	PEDS1	ENSG00000240849.11	transcript	ENST00000371652.9	protein_coding		2519		chr20	TogoVar
PLCE1_chr10_93988931_94337823	94093924	ATCGGTAT others(309): Show ATCGGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02717.hp2 HG02965.hp2 others(2): Show HG01884.hp1 HG02717.hp2 HG02965.hp2 HG03209.hp2 HG03453.hp2	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0010	a0002c0018 a0004c0037 a0005c0019 others(1): Show a0002c0018 a0004c0037 a0005c0019 a0010c0022	a0002c0018t0084 a0004c0037t0075 a0005c0019t0011 others(2): Show a0002c0018t0084 a0004c0037t0075 a0005c0019t0011 a0005c0019t0080 a0010c0022t0028	a0002c0018t0084g0102 a0004c0037t0075g0099 a0005c0019t0011g0100 others(2): Show a0002c0018t0084g0102 a0004c0037t0075g0099 a0005c0019t0011g0100 a0005c0019t0080g0101 a0010c0022t0028g0025	5	118	0.0424	-316	c.120 others(21): Show c.1207-38235_1207-37920del	PLCE1	ENSG00000138193.17	transcript	ENST00000371380.8	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr10	TogoVar
POLD1_chr19_50379347_50423014	50404297	CTGTCGCC others(309): Show CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAACT CCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGT AGAGACGGGGTTTCACTGTGTTAGCGAGGATGGTCTTGATCTCCTGACCT TGTGATCCGTCTGCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAG CTACTGCACCCAACCCCTTTTCTCTTTCTTTTTTTTTTTTTTTTTTTTTT GAGACAGAGTCTCGCTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01891.hp1 others(12): Show HG01109.hp2 HG01243.hp1 HG01891.hp1 HG01891.hp2 HG02257.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG03041.hp1 HG03209.hp1 HG03486.hp2	a0002 a0003 a0002 a0003	a0002c0015 a0003c0006 a0003c0012 others(2): Show a0002c0015 a0003c0006 a0003c0012 a0003c0032 a0003c0033	a0002c0015t0001 a0003c0006t0001 a0003c0012t0001 others(2): Show a0002c0015t0001 a0003c0006t0001 a0003c0012t0001 a0003c0032t0001 a0003c0033t0001	a0002c0015t0001g0032 a0002c0015t0001g0033 a0003c0006t0001g0020 others(12): Show a0002c0015t0001g0032 a0002c0015t0001g0033 a0003c0006t0001g0020 a0003c0006t0001g0034 a0003c0006t0001g0035 a0003c0006t0001g0036 a0003c0006t0001g0037 a0003c0006t0001g0038 a0003c0006t0001g0040 a0003c0006t0001g0041 a0003c0012t0001g0039 a0003c0012t0001g0042 a0003c0012t0001g0043 a0003c0032t0001g0013 a0003c0033t0001g0100	15	336	0.0446	-316	c.124 others(18): Show c.1242+721_1242+1036del	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRDM15_chr21_41793225_41884344	41806096	CCACCACC others(309): Show CCACCACCATCACCACCACCACCACCACCATCACCACCACCATCACCACC ACCACCACCATCACCATCACCACCACCATCACCACCACCACCATCACCAC CACCACCATCACCATCACCATCACCATCACCACCATCACTACCACCATCA CCACCACCACCATCACCACCACCCATCACCACCACCACCATCACCATCAC CACCACCATCACCACCACCACCATCACCACCACCACCATCACCATCACCA CCACCATCACCACCACCACCATCACTACCACCATCACCACCACCACCATC ACCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0390 a0001c0001t0004g0390	1	406	0.0025	-316	c.265 others(19): Show c.2653-1798_2653-1483del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRKCH_chr14_61316579_61555976	61452369	ATCTGTGT others(309): Show ATCTGTGTGTGCTTCCAAGATGGACTGACTCCATAAAACAGGAATGTGTT GCTTGTCGCTTCAGTTTCACCTCCCATCAGCAGGGCCCATGTCAAAAAAC TGTCTCAGAATTTATTCCAGCTGATAACGCCTCAGATCCTTCATTGTCCC CAGGCAGCTTCCGGTGCCTCAGGAGCTTAGCTTTCTTTGCTCGCCTCTTC AACTGCCATTTGTACTCTGACCTTCAGAAAGTTTTAAAAGTTGCCTTTCC CCACTATGAAGCAGTTAGAACCACAGGCTGCAAATGCTGAGAACCACAGG CTCACAGGATGCCCATC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	208	0.0048	-316	c.833 others(15): Show c.833-850_833-535del	PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
RRAS2_chr11_14272922_14364183	14326764	TAAGAATA others(309): Show TAAGAATATGATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGCAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAA AAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(153): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02165.hp1 HG02258.hp1 HG02293.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp1 NA18995.hp2 NA19009.hp1 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(152): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0123 a0001c0001t0001g0151 a0001c0001t0001g0192 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0243 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0005g0079 a0001c0001t0005g0082 a0001c0001t0006g0006 a0001c0001t0007g0014 a0001c0001t0008g0250 a0001c0001t0009g0047 a0001c0001t0010g0080	156	279	0.5591	-316	c.109 others(19): Show c.109-31225_109-30910del	RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding	1/5			chr11	TogoVar
SCO1_chr17_10667474_10702533	10688818	TAGAAAGC others(309): Show TAGAAAGCAGTTCTGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02451.hp2 others(22): Show HG01109.hp1 HG02109.hp2 HG02451.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA19043.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0019 a0002c0002t0024 a0002c0002t0031 others(13): Show a0002c0002t0019 a0002c0002t0024 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0002c0002t0035 a0002c0002t0057 a0002c0002t0058 a0002c0002t0059 a0002c0002t0060 a0002c0002t0061 a0002c0002t0062 a0002c0002t0063 a0002c0002t0065 a0002c0002t0066 a0002c0003t0052	a0002c0002t0019g0016 a0002c0002t0024g0029 a0002c0002t0031g0060 others(13): Show a0002c0002t0019g0016 a0002c0002t0024g0029 a0002c0002t0031g0060 a0002c0002t0032g0061 a0002c0002t0033g0057 a0002c0002t0035g0059 a0002c0002t0057g0247 a0002c0002t0058g0248 a0002c0002t0059g0258 a0002c0002t0060g0257 a0002c0002t0061g0261 a0002c0002t0062g0249 a0002c0002t0063g0260 a0002c0002t0065g0251 a0002c0002t0066g0259 a0002c0003t0052g0246	25	416	0.0601	-316	c.656 others(17): Show c.656-2292_656-1977del	SCO1	ENSG00000133028.12	transcript	ENST00000255390.10	protein_coding	4/5			chr17	TogoVar
SDK1_chr7_3296252_4274000	4264121	GGGGAGGC others(309): Show GGGGAGGCCGCGTAGACCTCTCCTGAGTGAGGGTGGCCGCGTAGAACTCT CCTGAGTGGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGGAGGCCGCGT AGACCTCTCCTGAGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGAGG CCGCGTAGACCTCTCCTGAGTGGGGAGGCCGTGTAGACCTCTCCTGAGTG AGGGAGGCCGCGTAGATCTCTCCTGAGTGAGGAGGCCGTGTAGATCTCTC CTGAGTGAGGGAGGCCGTGTGGACCTCTCCTGGGGTAAGGAAGGCCGCGT GGACCTCTCCTGGGGTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02886.hp1 HG01081.hp2 HG02886.hp1	a0011 a0025 a0011 a0025	a0011c0021 a0025c0070 a0011c0021 a0025c0070	a0011c0021t0073 a0025c0070t0026 a0011c0021t0073 a0025c0070t0026	a0011c0021t0073g0006 a0025c0070t0026g0112 a0011c0021t0073g0006 a0025c0070t0026g0112	2	116	0.0172	-316	c.638 others(18): Show c.6382-1002_6382-687del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44			chr7	TogoVar
SENP1_chr12_48037897_48111079	48056745	TATTACAT others(309): Show TATTACATATATAAATATATTTAACATATTACATATTACATATATATTAT TTAATATATTACATATTACATATATAAATATATTTAACATATTACATATT ACATATATATTATTTAATATATTACATATTACATATATAATATATTATTT AATATATTACATATTACATATATAATATATTATTTAATATATTACATATT ACATATATAATATATTATTTAATATATTACATATTACATATATAAATATA TTATTTAATATATTACATATTACATATATAAATATATTATTTAATATATT ATATATTACATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0349 a0001c0003t0008g0349	1	394	0.0025	-316	c.140 others(19): Show c.1407+6649_1407+6964del	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SPATC1L_chr21_46156160_46189459	46183498	CAGGGGAG others(309): Show CAGGGGAGACCAGCTTGCGGGGGAGACCAGCCTGCGGGGGAGACCAGCCT GGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAGGAGACCAG CCTGGGGGAGGAGACCAGCCTTGTGGGGGAGACCAGCCTGCGGGGGAGAC CAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAGGA GACCAGCCTGGGGGAGGAGACCAGCTTGCGGGGGAGACCAGCCTGCGGGG GAGACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGT GAGGAGACCAGCCTGGG	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG00099.hp2 HG01069.hp1 HG01071.hp1 others(29): Show HG00099.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01891.hp2 HG01943.hp2 HG01981.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02896.hp1 HG02976.hp2 HG03130.hp2 HG03239.hp2 HG03688.hp2 HG04184.hp1 NA18906.hp1 NA19043.hp1 NA20752.hp2	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0012	a0001c0001 a0001c0003 a0004c0005 others(2): Show a0001c0001 a0001c0003 a0004c0005 a0008c0017 a0012c0014	a0001c0001t0006 a0001c0001t0008 a0001c0003t0005 others(5): Show a0001c0001t0006 a0001c0001t0008 a0001c0003t0005 a0001c0003t0009 a0001c0003t0025 a0004c0005t0006 a0008c0017t0009 a0012c0014t0028	a0001c0001t0006g0010 a0001c0001t0006g0035 a0001c0001t0006g0064 others(26): Show a0001c0001t0006g0010 a0001c0001t0006g0035 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0006g0066 a0001c0001t0008g0021 a0001c0001t0008g0194 a0001c0001t0008g0195 a0001c0001t0008g0196 a0001c0001t0008g0197 a0001c0001t0008g0198 a0001c0003t0005g0024 a0001c0003t0005g0025 a0001c0003t0005g0026 a0001c0003t0005g0027 a0001c0003t0005g0028 a0001c0003t0005g0029 a0001c0003t0005g0030 a0001c0003t0005g0031 a0001c0003t0005g0032 a0001c0003t0005g0033 a0001c0003t0009g0008 a0001c0003t0009g0036 a0001c0003t0009g0037 a0001c0003t0009g0038 a0001c0003t0025g0023 a0004c0005t0006g0040 a0008c0017t0009g0039 a0012c0014t0028g0041	32	251	0.1275	-316	c.-95 others(12): Show c.-958-40_-683del	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/5	683		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46183501	GGGAGACC others(309): Show GGGAGACCAGCTTGCGGGGGAGACCAGCCTGCGGGGGAGACCAGCCTGGG CGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAGGAGACCAGCCT GGGGGAGGAGACCAGCCTTGTGGGGGAGACCAGCCTGCGGGGGAGACCAG CCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAGGAGAC CAGCCTGGGGGAGGAGACCAGCTTGCGGGGGAGACCAGCCTGCGGGGGAG ACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAG GAGACCAGCCTGGGGGA	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG00639.hp1 HG01433.hp1 HG01517.hp1 others(11): Show HG00639.hp1 HG01433.hp1 HG01517.hp1 HG02055.hp1 HG02055.hp2 HG02630.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03942.hp1 HG04199.hp2 NA19240.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0004c0005 a0005c0006 others(1): Show a0001c0001 a0004c0005 a0005c0006 a0006c0008	a0001c0001t0011 a0004c0005t0018 a0004c0005t0023 others(2): Show a0001c0001t0011 a0004c0005t0018 a0004c0005t0023 a0005c0006t0011 a0006c0008t0017	a0001c0001t0011g0184 a0001c0001t0011g0185 a0001c0001t0011g0186 others(11): Show a0001c0001t0011g0184 a0001c0001t0011g0185 a0001c0001t0011g0186 a0001c0001t0011g0187 a0004c0005t0018g0188 a0004c0005t0018g0189 a0004c0005t0018g0190 a0004c0005t0023g0180 a0004c0005t0023g0181 a0005c0006t0011g0182 a0005c0006t0011g0183 a0006c0008t0017g0191 a0006c0008t0017g0192 a0006c0008t0017g0193	14	251	0.0558	-316	c.-95 others(12): Show c.-958-43_-686del	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/5	686		chr21	TogoVar
SPINK5_chr5_148058980_148142382	148082592	TTATATAT others(309): Show TTATATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(313): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(23): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0021 a0022 a0023 a0024 a0025 a0026 a0028 a0029 a0030	a0001c0001 a0001c0024 a0001c0039 others(33): Show a0001c0001 a0001c0024 a0001c0039 a0001c0040 a0002c0002 a0002c0007 a0003c0003 a0003c0018 a0004c0004 a0005c0005 a0006c0006 a0006c0012 a0007c0008 a0008c0009 a0008c0013 a0008c0028 a0008c0032 a0010c0014 a0011c0019 a0011c0041 a0012c0015 a0013c0017 a0014c0020 a0015c0022 a0016c0021 a0017c0023 a0018c0016 a0021c0030 a0022c0029 a0023c0035 a0024c0036 a0025c0037 a0026c0038 a0028c0025 a0029c0026 a0030c0027	a0001c0001t0001 a0001c0024t0001 a0001c0039t0001 others(35): Show a0001c0001t0001 a0001c0024t0001 a0001c0039t0001 a0001c0040t0001 a0002c0002t0003 a0002c0007t0003 a0003c0003t0002 a0003c0018t0002 a0004c0004t0002 a0005c0005t0002 a0006c0006t0002 a0006c0012t0007 a0007c0008t0006 a0008c0009t0002 a0008c0009t0009 a0008c0013t0002 a0008c0028t0001 a0008c0032t0002 a0010c0014t0002 a0011c0019t0002 a0011c0041t0002 a0012c0015t0001 a0012c0015t0010 a0013c0017t0008 a0014c0020t0002 a0015c0022t0003 a0016c0021t0002 a0017c0023t0001 a0018c0016t0002 a0021c0030t0002 a0022c0029t0003 a0023c0035t0001 a0024c0036t0001 a0025c0037t0002 a0026c0038t0001 a0028c0025t0001 a0029c0026t0003 a0030c0027t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0023 others(283): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0342 a0001c0024t0001g0029 a0001c0039t0001g0241 a0001c0040t0001g0275 a0002c0002t0003g0007 a0002c0002t0003g0017 a0002c0002t0003g0018 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0031 a0002c0002t0003g0032 a0002c0002t0003g0148 a0002c0002t0003g0149 a0002c0002t0003g0150 a0002c0002t0003g0151 a0002c0002t0003g0152 a0002c0002t0003g0154 a0002c0002t0003g0155 a0002c0002t0003g0156 a0002c0002t0003g0157 a0002c0002t0003g0158 a0002c0002t0003g0159 a0002c0002t0003g0160 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0168 a0002c0002t0003g0169 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0173 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0186 a0002c0002t0003g0187 a0002c0002t0003g0188 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0268 a0002c0002t0003g0269 a0002c0002t0003g0312 a0002c0007t0003g0317 a0002c0007t0003g0318 a0002c0007t0003g0320 a0002c0007t0003g0321 a0002c0007t0003g0322 a0002c0007t0003g0323 a0002c0007t0003g0324 a0002c0007t0003g0325 a0002c0007t0003g0326 a0003c0003t0002g0083 a0003c0018t0002g0074 a0003c0018t0002g0087 a0004c0004t0002g0005 a0004c0004t0002g0010 a0004c0004t0002g0035 a0004c0004t0002g0036 a0004c0004t0002g0037 a0004c0004t0002g0038 a0004c0004t0002g0039 a0004c0004t0002g0040 a0004c0004t0002g0041 a0004c0004t0002g0042 a0004c0004t0002g0043 a0004c0004t0002g0044 a0004c0004t0002g0045 a0004c0004t0002g0046 a0004c0004t0002g0047 a0004c0004t0002g0048 a0004c0004t0002g0049 a0004c0004t0002g0050 a0004c0004t0002g0051 a0004c0004t0002g0054 a0004c0004t0002g0055 a0004c0004t0002g0056 a0004c0004t0002g0057 a0004c0004t0002g0058 a0004c0004t0002g0059 a0004c0004t0002g0060 a0004c0004t0002g0061 a0004c0004t0002g0062 a0004c0004t0002g0063 a0004c0004t0002g0064 a0004c0004t0002g0065 a0004c0004t0002g0066 a0004c0004t0002g0067 a0004c0004t0002g0069 a0004c0004t0002g0095 a0004c0004t0002g0242 a0005c0005t0002g0009 a0005c0005t0002g0327 a0005c0005t0002g0328 a0005c0005t0002g0329 a0005c0005t0002g0332 a0005c0005t0002g0333 a0005c0005t0002g0334 a0005c0005t0002g0335 a0005c0005t0002g0336 a0005c0005t0002g0337 a0005c0005t0002g0338 a0005c0005t0002g0339 a0005c0005t0002g0340 a0005c0005t0002g0341 a0006c0006t0002g0012 a0006c0006t0002g0013 a0006c0006t0002g0030 a0006c0006t0002g0077 a0006c0006t0002g0078 a0006c0006t0002g0079 a0006c0006t0002g0085 a0006c0006t0002g0089 a0006c0006t0002g0090 a0006c0006t0002g0091 a0006c0012t0007g0004 a0007c0008t0006g0070 a0007c0008t0006g0071 a0007c0008t0006g0072 a0008c0009t0002g0073 a0008c0009t0002g0206 a0008c0009t0002g0308 a0008c0009t0002g0309 a0008c0009t0002g0310 a0008c0009t0002g0311 a0008c0009t0009g0076 a0008c0013t0002g0219 a0008c0013t0002g0228 a0008c0013t0002g0295 a0008c0028t0001g0096 a0008c0032t0002g0034 a0010c0014t0002g0075 a0010c0014t0002g0082 a0010c0014t0002g0084 a0011c0019t0002g0086 a0011c0041t0002g0081 a0012c0015t0001g0243 a0012c0015t0001g0282 a0012c0015t0010g0189 a0013c0017t0008g0135 a0013c0017t0008g0136 a0014c0020t0002g0093 a0014c0020t0002g0094 a0015c0022t0003g0203 a0015c0022t0003g0204 a0016c0021t0002g0254 a0016c0021t0002g0267 a0017c0023t0001g0283 a0017c0023t0001g0300 a0018c0016t0002g0011 a0021c0030t0002g0088 a0022c0029t0003g0153 a0023c0035t0001g0278 a0024c0036t0001g0296 a0025c0037t0002g0092 a0026c0038t0001g0190 a0028c0025t0001g0053 a0029c0026t0003g0068 a0030c0027t0001g0052	316	384	0.8229	-316	c.283 others(17): Show c.283-3801_283-3486del	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SUMF2_chr7_56059286_56085670	56071907	TGAGACCA others(309): Show TGAGACCAGCCTGGCCAACATGGTGAAACCCGTCTCTACTAAAAAGACAA AAATTAGTGGGCATGGTGGTGTGCACCTGTAATCCCAGCTACTGGGGAAG CTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCT GAGATTGCACCACTGCACTCCAGCCTGGGCAACAGTCTTTTTGAGACAGA GCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAATATTGGCCAAGTGTTGT GCCTCACACCTGTAATCCCAACACTTTGGGAGGCCACTTTGGGTGGATCA CCTGAAGTTAGGAGTTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0197 a0001c0002t0003g0197	1	412	0.0024	-316	c.225 others(16): Show c.225-1075_225-760del	SUMF2	ENSG00000129103.19	transcript	ENST00000434526.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
TCF25_chr16_89868592_89916379	89901922	TAAGACGG others(309): Show TAAGACGGGCCTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCA CTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGACTAACACGGTGAAACCACGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGTTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACTCCGTCTCAAAAA AAAAGAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA20129.hp1 HG03471.hp2 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0052 a0002c0003t0001g0053	2	300	0.0067	-316	c.138 others(19): Show c.1381+1142_1381+1457del	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TRPM3_chr9_70524060_71126621	70848681	CAAAAGAA others(309): Show CAAAAGAAATTACCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCTAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(103): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01255.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG02015.hp1 HG02015.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18948.hp1 NA18955.hp2 NA18962.hp1 NA18966.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19009.hp1 NA19043.hp1 NA19054.hp2 NA19062.hp1 NA19080.hp1 NA19088.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009	a0001c0002 a0001c0006 a0001c0008 others(23): Show a0001c0002 a0001c0006 a0001c0008 a0001c0032 a0001c0035 a0001c0037 a0001c0039 a0001c0041 a0001c0043 a0002c0003 a0002c0031 a0002c0040 a0002c0044 a0003c0013 a0003c0015 a0003c0018 a0003c0020 a0003c0034 a0003c0036 a0004c0012 a0004c0016 a0004c0030 a0005c0019 a0007c0033 a0008c0038 a0009c0042	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(56): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0020 a0001c0002t0022 a0001c0002t0029 a0001c0002t0044 a0001c0002t0047 a0001c0002t0060 a0001c0002t0063 a0001c0002t0070 a0001c0006t0001 a0001c0006t0007 a0001c0006t0012 a0001c0006t0016 a0001c0008t0004 a0001c0008t0017 a0001c0008t0019 a0001c0008t0043 a0001c0008t0057 a0001c0008t0068 a0001c0032t0031 a0001c0035t0039 a0001c0037t0015 a0001c0039t0001 a0001c0041t0051 a0001c0043t0069 a0002c0003t0003 a0002c0003t0008 a0002c0003t0026 a0002c0003t0055 a0002c0003t0058 a0002c0003t0059 a0002c0031t0042 a0002c0040t0064 a0002c0044t0008 a0003c0013t0005 a0003c0013t0009 a0003c0013t0023 a0003c0015t0018 a0003c0015t0033 a0003c0018t0005 a0003c0020t0009 a0003c0020t0050 a0003c0034t0053 a0003c0036t0028 a0004c0012t0010 a0004c0016t0010 a0004c0030t0048 a0005c0019t0002 a0005c0019t0013 a0007c0033t0001 a0008c0038t0005 a0009c0042t0004	a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0038 others(103): Show a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0052 a0001c0002t0001g0061 a0001c0002t0001g0078 a0001c0002t0001g0082 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0001g0119 a0001c0002t0002g0092 a0001c0002t0002g0151 a0001c0002t0002g0160 a0001c0002t0002g0162 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0007g0180 a0001c0002t0007g0186 a0001c0002t0007g0188 a0001c0002t0007g0197 a0001c0002t0011g0013 a0001c0002t0012g0102 a0001c0002t0012g0170 a0001c0002t0014g0043 a0001c0002t0015g0200 a0001c0002t0016g0194 a0001c0002t0020g0149 a0001c0002t0020g0152 a0001c0002t0022g0070 a0001c0002t0029g0199 a0001c0002t0044g0049 a0001c0002t0047g0117 a0001c0002t0060g0206 a0001c0002t0063g0198 a0001c0002t0070g0214 a0001c0006t0001g0041 a0001c0006t0001g0042 a0001c0006t0001g0139 a0001c0006t0001g0157 a0001c0006t0007g0185 a0001c0006t0012g0156 a0001c0006t0012g0158 a0001c0006t0016g0190 a0001c0006t0016g0195 a0001c0008t0004g0089 a0001c0008t0004g0107 a0001c0008t0017g0012 a0001c0008t0017g0014 a0001c0008t0019g0075 a0001c0008t0043g0093 a0001c0008t0057g0182 a0001c0008t0068g0211 a0001c0032t0031g0001 a0001c0035t0039g0087 a0001c0037t0015g0202 a0001c0039t0001g0048 a0001c0041t0051g0110 a0001c0043t0069g0212 a0002c0003t0003g0046 a0002c0003t0003g0047 a0002c0003t0003g0056 a0002c0003t0003g0064 a0002c0003t0003g0066 a0002c0003t0003g0069 a0002c0003t0003g0071 a0002c0003t0003g0073 a0002c0003t0003g0132 a0002c0003t0003g0136 a0002c0003t0003g0169 a0002c0003t0008g0009 a0002c0003t0008g0015 a0002c0003t0008g0016 a0002c0003t0008g0018 a0002c0003t0026g0039 a0002c0003t0055g0051 a0002c0003t0058g0207 a0002c0003t0059g0196 a0002c0031t0042g0147 a0002c0040t0064g0189 a0002c0044t0008g0004 a0003c0013t0005g0161 a0003c0013t0009g0035 a0003c0013t0009g0159 a0003c0013t0023g0164 a0003c0015t0018g0081 a0003c0015t0018g0111 a0003c0015t0033g0006 a0003c0018t0005g0100 a0003c0018t0005g0108 a0003c0020t0009g0096 a0003c0020t0050g0106 a0003c0034t0053g0154 a0003c0036t0028g0183 a0004c0012t0010g0083 a0004c0012t0010g0086 a0004c0012t0010g0150 a0004c0012t0010g0155 a0004c0016t0010g0091 a0004c0030t0048g0114 a0005c0019t0002g0080 a0005c0019t0013g0008 a0007c0033t0001g0138 a0008c0038t0005g0074 a0009c0042t0004g0173	106	214	0.4953	-316	c.463 others(17): Show c.463-2406_463-2091del	TRPM3	ENSG00000083067.26	transcript	ENST00000677713.2	protein_coding	3/25			chr9	TogoVar
VIT_chr2_36691707_36819794	36728517	TAAAGAAA others(309): Show TAAAGAAAAAATATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAA AAAAAAAAAAAAAGAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(168): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01517.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008	a0001c0001 a0001c0004 a0001c0009 others(9): Show a0001c0001 a0001c0004 a0001c0009 a0001c0012 a0002c0002 a0002c0016 a0003c0003 a0003c0007 a0004c0005 a0005c0006 a0006c0015 a0008c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0009t0001 a0001c0012t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0016t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0007 a0003c0007t0003 a0004c0005t0001 a0004c0005t0003 a0005c0006t0001 a0005c0006t0002 a0006c0015t0001 a0008c0017t0003	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0045 others(167): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0264 a0001c0001t0001g0323 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0303 a0001c0001t0002g0308 a0001c0001t0002g0311 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0003g0026 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0004g0020 a0001c0001t0004g0101 a0001c0001t0005g0119 a0001c0001t0005g0123 a0001c0001t0006g0285 a0001c0004t0001g0006 a0001c0004t0001g0013 a0001c0004t0001g0048 a0001c0004t0001g0182 a0001c0004t0002g0273 a0001c0004t0002g0307 a0001c0004t0002g0312 a0001c0004t0003g0001 a0001c0004t0003g0169 a0001c0004t0003g0177 a0001c0009t0001g0232 a0001c0012t0001g0163 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0130 a0002c0002t0001g0208 a0002c0002t0001g0212 a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0001g0259 a0002c0002t0002g0290 a0002c0002t0002g0304 a0002c0002t0003g0027 a0002c0002t0003g0030 a0002c0002t0003g0038 a0002c0016t0003g0034 a0003c0003t0001g0047 a0003c0003t0001g0051 a0003c0003t0001g0186 a0003c0003t0001g0215 a0003c0003t0001g0230 a0003c0003t0001g0244 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0261 a0003c0003t0002g0278 a0003c0003t0002g0321 a0003c0003t0002g0326 a0003c0003t0003g0202 a0003c0003t0003g0220 a0003c0003t0007g0213 a0003c0007t0003g0178 a0003c0007t0003g0179 a0004c0005t0001g0007 a0004c0005t0001g0092 a0004c0005t0003g0029 a0005c0006t0001g0008 a0005c0006t0002g0277 a0006c0015t0001g0118 a0008c0017t0003g0201	171	328	0.5213	-316	c.53- others(13): Show c.53-894_53-579del	VIT	ENSG00000205221.13	transcript	ENST00000379242.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
XKR4_chr8_55097028_55547054	55488642	TAAAAAGA others(309): Show TAAAAAGACCAATGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTTTCAAAA AAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(138): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18949.hp1 NA18949.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18986.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19063.hp2 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0004 others(2): Show a0001c0001 a0001c0002 a0002c0004 a0003c0005 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(128): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0128 a0001c0001t0142 a0001c0001t0143 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0002t0004 a0002c0004t0038 a0003c0005t0028 a0004c0003t0051	a0001c0001t0001g0154 a0001c0001t0001g0169 a0001c0001t0001g0178 others(138): Show a0001c0001t0001g0154 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0002g0075 a0001c0001t0002g0083 a0001c0001t0002g0097 a0001c0001t0003g0056 a0001c0001t0003g0102 a0001c0001t0003g0106 a0001c0001t0004g0068 a0001c0001t0004g0082 a0001c0001t0005g0124 a0001c0001t0005g0142 a0001c0001t0006g0166 a0001c0001t0007g0159 a0001c0001t0008g0053 a0001c0001t0009g0023 a0001c0001t0009g0024 a0001c0001t0010g0032 a0001c0001t0012g0163 a0001c0001t0012g0164 a0001c0001t0014g0074 a0001c0001t0015g0051 a0001c0001t0016g0153 a0001c0001t0018g0162 a0001c0001t0020g0110 a0001c0001t0021g0123 a0001c0001t0022g0002 a0001c0001t0023g0031 a0001c0001t0024g0029 a0001c0001t0025g0046 a0001c0001t0026g0155 a0001c0001t0027g0005 a0001c0001t0029g0148 a0001c0001t0030g0061 a0001c0001t0031g0112 a0001c0001t0032g0134 a0001c0001t0034g0170 a0001c0001t0036g0135 a0001c0001t0037g0111 a0001c0001t0039g0026 a0001c0001t0040g0172 a0001c0001t0041g0059 a0001c0001t0042g0076 a0001c0001t0043g0100 a0001c0001t0044g0039 a0001c0001t0045g0081 a0001c0001t0046g0070 a0001c0001t0047g0043 a0001c0001t0048g0060 a0001c0001t0049g0171 a0001c0001t0050g0022 a0001c0001t0052g0118 a0001c0001t0053g0015 a0001c0001t0054g0168 a0001c0001t0056g0049 a0001c0001t0058g0030 a0001c0001t0059g0066 a0001c0001t0060g0156 a0001c0001t0061g0064 a0001c0001t0062g0007 a0001c0001t0064g0069 a0001c0001t0065g0011 a0001c0001t0066g0167 a0001c0001t0067g0034 a0001c0001t0068g0138 a0001c0001t0069g0016 a0001c0001t0070g0141 a0001c0001t0071g0018 a0001c0001t0073g0009 a0001c0001t0074g0052 a0001c0001t0075g0151 a0001c0001t0076g0035 a0001c0001t0077g0108 a0001c0001t0081g0057 a0001c0001t0082g0152 a0001c0001t0083g0004 a0001c0001t0084g0037 a0001c0001t0085g0010 a0001c0001t0086g0139 a0001c0001t0087g0050 a0001c0001t0088g0127 a0001c0001t0089g0077 a0001c0001t0090g0086 a0001c0001t0091g0033 a0001c0001t0092g0047 a0001c0001t0093g0176 a0001c0001t0094g0040 a0001c0001t0095g0091 a0001c0001t0096g0140 a0001c0001t0097g0042 a0001c0001t0098g0028 a0001c0001t0099g0104 a0001c0001t0100g0067 a0001c0001t0101g0014 a0001c0001t0102g0055 a0001c0001t0103g0073 a0001c0001t0104g0038 a0001c0001t0105g0003 a0001c0001t0106g0160 a0001c0001t0107g0146 a0001c0001t0108g0044 a0001c0001t0109g0054 a0001c0001t0110g0128 a0001c0001t0111g0130 a0001c0001t0112g0126 a0001c0001t0113g0012 a0001c0001t0114g0131 a0001c0001t0115g0132 a0001c0001t0116g0017 a0001c0001t0117g0129 a0001c0001t0118g0062 a0001c0001t0119g0125 a0001c0001t0120g0041 a0001c0001t0128g0096 a0001c0001t0142g0133 a0001c0001t0143g0105 a0001c0001t0145g0084 a0001c0001t0146g0180 a0001c0001t0147g0158 a0001c0001t0148g0117 a0001c0001t0149g0174 a0001c0001t0150g0072 a0001c0001t0151g0175 a0001c0001t0152g0137 a0001c0001t0153g0101 a0001c0001t0155g0182 a0001c0001t0156g0157 a0001c0001t0157g0093 a0001c0001t0158g0090 a0001c0001t0159g0079 a0001c0001t0160g0094 a0001c0001t0161g0080 a0001c0001t0162g0095 a0001c0001t0163g0089 a0001c0001t0164g0078 a0001c0001t0165g0092 a0001c0002t0004g0115 a0002c0004t0038g0136 a0003c0005t0028g0058 a0004c0003t0051g0173	141	182	0.7747	-316	c.100 others(21): Show c.1007-34623_1007-34308del	XKR4	ENSG00000206579.10	transcript	ENST00000327381.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF529_chr19_36538613_36578292	36555279	AGCGATAA others(309): Show AGCGATAAAGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(200): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0002 a0001c0003 a0001c0004 others(7): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0002c0001 a0003c0005 a0004c0006 a0005c0010 a0006c0009	a0001c0002t0001 a0001c0002t0003 a0001c0002t0012 others(45): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0012 a0001c0002t0013 a0001c0002t0017 a0001c0002t0019 a0001c0002t0023 a0001c0002t0024 a0001c0002t0034 a0001c0002t0036 a0001c0002t0038 a0001c0002t0052 a0001c0002t0053 a0001c0002t0054 a0001c0002t0056 a0001c0002t0060 a0001c0003t0007 a0001c0003t0009 a0001c0003t0014 a0001c0003t0015 a0001c0003t0016 a0001c0003t0018 a0001c0003t0020 a0001c0003t0021 a0001c0003t0025 a0001c0003t0026 a0001c0003t0027 a0001c0003t0028 a0001c0003t0029 a0001c0003t0030 a0001c0003t0039 a0001c0003t0040 a0001c0003t0041 a0001c0003t0042 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046 a0001c0003t0055 a0001c0004t0003 a0001c0004t0035 a0001c0004t0037 a0001c0007t0043 a0001c0008t0001 a0002c0001t0048 a0003c0005t0012 a0004c0006t0003 a0005c0010t0019 a0006c0009t0027	a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0012 others(138): Show a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0017 a0001c0002t0001g0025 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0043 a0001c0002t0001g0180 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0188 a0001c0002t0001g0195 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0203 a0001c0002t0001g0206 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0003g0044 a0001c0002t0012g0019 a0001c0002t0013g0027 a0001c0002t0013g0049 a0001c0002t0013g0065 a0001c0002t0013g0066 a0001c0002t0017g0181 a0001c0002t0017g0189 a0001c0002t0017g0205 a0001c0002t0017g0216 a0001c0002t0017g0229 a0001c0002t0019g0187 a0001c0002t0019g0209 a0001c0002t0019g0221 a0001c0002t0023g0136 a0001c0002t0023g0139 a0001c0002t0024g0053 a0001c0002t0024g0061 a0001c0002t0034g0196 a0001c0002t0034g0197 a0001c0002t0036g0138 a0001c0002t0038g0052 a0001c0002t0052g0219 a0001c0002t0053g0204 a0001c0002t0054g0212 a0001c0002t0056g0202 a0001c0002t0060g0232 a0001c0003t0007g0005 a0001c0003t0007g0036 a0001c0003t0007g0155 a0001c0003t0009g0011 a0001c0003t0009g0149 a0001c0003t0009g0178 a0001c0003t0014g0165 a0001c0003t0014g0169 a0001c0003t0014g0170 a0001c0003t0014g0173 a0001c0003t0014g0174 a0001c0003t0015g0024 a0001c0003t0015g0158 a0001c0003t0015g0161 a0001c0003t0016g0035 a0001c0003t0016g0143 a0001c0003t0016g0145 a0001c0003t0016g0146 a0001c0003t0018g0041 a0001c0003t0018g0186 a0001c0003t0018g0208 a0001c0003t0018g0235 a0001c0003t0020g0140 a0001c0003t0020g0167 a0001c0003t0020g0177 a0001c0003t0021g0153 a0001c0003t0021g0156 a0001c0003t0021g0162 a0001c0003t0025g0037 a0001c0003t0026g0151 a0001c0003t0026g0172 a0001c0003t0027g0159 a0001c0003t0028g0164 a0001c0003t0028g0168 a0001c0003t0029g0148 a0001c0003t0029g0166 a0001c0003t0030g0150 a0001c0003t0030g0163 a0001c0003t0039g0144 a0001c0003t0040g0154 a0001c0003t0041g0171 a0001c0003t0042g0160 a0001c0003t0044g0176 a0001c0003t0045g0147 a0001c0003t0046g0179 a0001c0003t0055g0207 a0001c0004t0003g0006 a0001c0004t0003g0007 a0001c0004t0003g0014 a0001c0004t0003g0015 a0001c0004t0003g0026 a0001c0004t0003g0045 a0001c0004t0003g0046 a0001c0004t0003g0048 a0001c0004t0003g0050 a0001c0004t0003g0055 a0001c0004t0003g0056 a0001c0004t0003g0057 a0001c0004t0003g0058 a0001c0004t0003g0059 a0001c0004t0003g0060 a0001c0004t0003g0063 a0001c0004t0003g0067 a0001c0004t0003g0068 a0001c0004t0003g0069 a0001c0004t0003g0128 a0001c0004t0035g0054 a0001c0004t0037g0062 a0001c0007t0043g0152 a0001c0008t0001g0220 a0002c0001t0048g0051 a0003c0005t0012g0034 a0003c0005t0012g0137 a0004c0006t0003g0047 a0004c0006t0003g0064 a0005c0010t0019g0182 a0006c0009t0027g0175	203	368	0.5516	-316	c.108 others(15): Show c.108+509_109-484del	ZNF529	ENSG00000186020.13	transcript	ENST00000591340.6	protein_coding	3/4			chr19	TogoVar
ZNF536_chr19_30367384_30563059	30526427	TAAGAACA others(309): Show TAAGAACAGGTTCAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01074.hp1 others(6): Show HG00639.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01192.hp2 HG01261.hp2 HG01496.hp2 HG01516.hp2 HG02735.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0013 a0001c0001 a0001c0002 a0004c0013	a0001c0001t0001 a0001c0002t0003 a0004c0013t0003 a0001c0001t0001 a0001c0002t0003 a0004c0013t0003	a0001c0001t0001g0183 a0001c0002t0003g0054 a0001c0002t0003g0077 others(6): Show a0001c0001t0001g0183 a0001c0002t0003g0054 a0001c0002t0003g0077 a0001c0002t0003g0119 a0001c0002t0003g0121 a0001c0002t0003g0144 a0001c0002t0003g0173 a0001c0002t0003g0176 a0004c0013t0003g0103	9	212	0.0425	-316	c.217 others(19): Show c.2171-8413_2171-8098del	ZNF536	ENSG00000198597.10	transcript	ENST00000355537.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF717_chr3_75730868_75790549	75778573	ACAAAACA others(309): Show ACAAAACAATGGGAGTGACCTGCCAAAACCAGAAACCAAAAACAATGGGA GTGACTTGCTAAAACCAGAACCCAAAACAATGGGAGTGACGTGCTAAACC AAAAACCCAAAACAATGGGAGTGACGTGCTAAAACCGGAACCCAAAACAA TGTGAGTGATGTGCAAAACCCGTAAACCAAAACAATGGGAGTGTCATGCT AAACCAGAAACCCAAAACAATGGGAGTGATATGCTAAAACCGGAACCCAA AATAATGGGAGTGAGGTGCTAAAACCGGAACCCAAAACAATGGGAGTGAT GCGCAAAAACCGGAACC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0103 a0003c0003t0003g0103	1	360	0.0028	-316	c.57+ others(15): Show c.57+4417_57+4732del	ZNF717	ENSG00000227124.11	transcript	ENST00000652011.2	protein_coding	2/4			chr3	TogoVar
ADARB2_chr10_1172313_1742525	1235903	CATGGCCA others(308): Show CATGGCCATACCTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGC AGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCT CCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCT TCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCT GATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGG AGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACAT GCCTGCATTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	106	0.0094	-315	c.136 others(19): Show c.1362-2373_1362-2059del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADIPOR2_chr12_1686070_1793674	1754845	GCCTCGAC others(308): Show GCCTCGACTACAGGTACATGCCACCATGCCAGGCTAATTTTTGTAGCTTT AGCAGAGATGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTTA CCTCAGGTATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCA TGAGTCATCGTGCCCAGCTTCTTATTCTTAAATTAGCTTAGATATTATTT GATTTTGATTTTATGGTTAATGTCTTTCTGCTGACTCTTTTTTTTTTAAT TTCGGAGACGGAGTCTTGTTCTGTCGCCAGGCTGGAGTGCAGTGGTGCGA TCTCAGCTCACTGCAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(104): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02698.hp2 HG02738.hp2 HG03130.hp2 HG03209.hp2 HG03490.hp2 HG03516.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19009.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19089.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0021 a0001c0001t0025 a0001c0001t0028 a0004c0009t0019	a0001c0001t0002g0005 a0001c0001t0002g0065 a0001c0001t0002g0123 others(101): Show a0001c0001t0002g0005 a0001c0001t0002g0065 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0218 a0001c0001t0002g0239 a0001c0001t0002g0255 a0001c0001t0002g0316 a0001c0001t0002g0371 a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0028 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0142 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0160 a0001c0001t0005g0162 a0001c0001t0005g0168 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0201 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0206 a0001c0001t0005g0211 a0001c0001t0005g0267 a0001c0001t0010g0133 a0001c0001t0010g0135 a0001c0001t0010g0136 a0001c0001t0010g0148 a0001c0001t0011g0159 a0001c0001t0011g0167 a0001c0001t0011g0170 a0001c0001t0021g0212 a0001c0001t0025g0194 a0001c0001t0028g0192 a0004c0009t0019g0177	107	378	0.2831	-315	c.171 others(15): Show c.171+336_171+650del	ADIPOR2	ENSG00000006831.10	transcript	ENST00000357103.5	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
AP3D1_chr19_2095988_2156566	2128508	CCCCACAG others(308): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCA CCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAG CCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCC CCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCG ACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACC CCGTGGAGCCGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	406	0.0025	-315	c.806 others(15): Show c.806+267_806+581del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ASMTL_chrX_1398139_1457909	1408123	CGCAGGAG others(308): Show CGCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCCCTCCAG CCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGC TTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCC TCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGG ATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACAC TGCCCTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCA GGAGGATCGCTTGAGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp2 HG03041.hp2 others(1): Show HG02257.hp2 HG02723.hp2 HG03041.hp2 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0006 a0002c0003t0001g0018 a0002c0003t0001g0020 others(1): Show a0002c0003t0001g0006 a0002c0003t0001g0018 a0002c0003t0001g0020 a0002c0003t0001g0073	4	185	0.0216	-315	c.164 others(19): Show c.1645+4294_1645+4608del	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1408813	CTACTCCC others(308): Show CTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAG GAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAA TGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAG TGCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCACTCCAG CCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGC TTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCAG TCCAGCCAAATGCTGG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0001 a0016c0028t0001	a0016c0028t0001g0160 a0016c0028t0001g0160	1	185	0.0054	-315	c.164 others(19): Show c.1645+3604_1645+3918del	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1409531	ACTCCAGC others(308): Show ACTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGA GGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAAC ACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGG CAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATG ACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGC TGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTA TGATGACAACACTGCC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02723.hp1 others(3): Show HG02257.hp2 HG02451.hp2 HG02723.hp1 HG02723.hp2 HG03041.hp2 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0009 a0002c0003 a0002c0009	a0002c0003t0001 a0002c0009t0001 a0002c0003t0001 a0002c0009t0001	a0002c0003t0001g0006 a0002c0003t0001g0018 a0002c0003t0001g0020 others(3): Show a0002c0003t0001g0006 a0002c0003t0001g0018 a0002c0003t0001g0020 a0002c0003t0001g0073 a0002c0003t0001g0112 a0002c0009t0001g0111	6	185	0.0324	-315	c.164 others(19): Show c.1645+2886_1645+3200del	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ATP6V1D_chr14_67332872_67364804	67348391	AAGATGGG others(308): Show AAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTT GTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGC CACCACATCCAGTGGAACCTGACTTCTTTATTTTTTTATTTTTTATTTTT AGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTC GGCTCACTGGAACCTCCGCTTCCCGGGTTCAAGCGATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCGCGTGCCACCAAACCTGGCTAATT TTTGTATTATTAGTAG	A A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	348	0.0029	-315	c.307 others(15): Show c.307+331_307+645del	ATP6V1D	ENSG00000100554.12	transcript	ENST00000216442.12	protein_coding	4/8			chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105667403	TAAAAGTC others(308): Show TAAAAGTCAACTAGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00558.hp2 others(92): Show HG00280.hp2 HG00323.hp2 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01257.hp2 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02602.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG03098.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18954.hp1 NA18962.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18989.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19091.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0001c0005 others(6): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0012 a0002c0002 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0040 a0001c0001t0041 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0058 a0001c0001t0062 a0001c0001t0063 a0001c0004t0010 a0001c0005t0007 a0001c0006t0001 a0001c0007t0038 a0001c0008t0014 a0001c0012t0003 a0002c0002t0032 a0005c0011t0008	a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0033 others(92): Show a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0059 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0053 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0173 a0001c0001t0002g0187 a0001c0001t0002g0231 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0003g0030 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0003g0118 a0001c0001t0003g0147 a0001c0001t0003g0150 a0001c0001t0003g0171 a0001c0001t0003g0238 a0001c0001t0004g0039 a0001c0001t0004g0124 a0001c0001t0005g0126 a0001c0001t0005g0159 a0001c0001t0005g0248 a0001c0001t0006g0022 a0001c0001t0006g0034 a0001c0001t0006g0117 a0001c0001t0007g0057 a0001c0001t0008g0175 a0001c0001t0009g0020 a0001c0001t0009g0054 a0001c0001t0009g0146 a0001c0001t0010g0032 a0001c0001t0010g0091 a0001c0001t0010g0093 a0001c0001t0010g0095 a0001c0001t0010g0111 a0001c0001t0010g0228 a0001c0001t0011g0012 a0001c0001t0011g0099 a0001c0001t0011g0101 a0001c0001t0011g0143 a0001c0001t0011g0152 a0001c0001t0011g0157 a0001c0001t0011g0164 a0001c0001t0012g0052 a0001c0001t0013g0129 a0001c0001t0013g0236 a0001c0001t0013g0251 a0001c0001t0014g0038 a0001c0001t0014g0083 a0001c0001t0014g0123 a0001c0001t0014g0233 a0001c0001t0014g0237 a0001c0001t0015g0019 a0001c0001t0015g0060 a0001c0001t0016g0136 a0001c0001t0017g0194 a0001c0001t0018g0094 a0001c0001t0019g0230 a0001c0001t0024g0077 a0001c0001t0028g0037 a0001c0001t0029g0072 a0001c0001t0029g0215 a0001c0001t0031g0172 a0001c0001t0040g0207 a0001c0001t0041g0196 a0001c0001t0048g0132 a0001c0001t0049g0148 a0001c0001t0050g0155 a0001c0001t0058g0018 a0001c0001t0062g0007 a0001c0001t0063g0041 a0001c0004t0010g0154 a0001c0005t0007g0209 a0001c0006t0001g0112 a0001c0007t0038g0158 a0001c0008t0014g0165 a0001c0012t0003g0047 a0002c0002t0032g0149 a0005c0011t0008g0092	95	252	0.3770	-315	c.356 others(17): Show c.356-2430_356-2116del	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
C19orf12_chr19_29693937_29720261	29719444	ATATATAT others(308): Show ATATATATAATATACATATTTATATATATATTATATATATTTATATATAT ATTATATTTATATATATTTATATATATTATATATATATTATATATATAAT ATATAAATATATTTATATAATATAAATATATATATTTATATAATATAAAT ATATATATTTATATATATATAAAATATATATAATATATAAGTTTGGACAA AGATATAGAATTATATAATATATAAGTTTGGACAAAGATATAGAATTATA TAATATATAATATAATATATCAGTATATATAATTGTACTATTATATAATT ATATATAATTATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG01934.hp2 others(16): Show HG00597.hp1 HG00673.hp2 HG01934.hp2 HG02135.hp2 HG02523.hp2 NA18941.hp2 NA18963.hp2 NA18969.hp1 NA18970.hp2 NA18987.hp1 NA18990.hp1 NA19001.hp2 NA19009.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19085.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0008 a0002c0003t0019 others(2): Show a0001c0002t0001 a0002c0003t0008 a0002c0003t0019 a0002c0003t0051 a0002c0003t0052	a0001c0002t0001g0111 a0002c0003t0008g0019 a0002c0003t0008g0020 others(10): Show a0001c0002t0001g0111 a0002c0003t0008g0019 a0002c0003t0008g0020 a0002c0003t0008g0034 a0002c0003t0008g0056 a0002c0003t0008g0110 a0002c0003t0008g0113 a0002c0003t0008g0115 a0002c0003t0008g0116 a0002c0003t0019g0035 a0002c0003t0019g0114 a0002c0003t0051g0109 a0002c0003t0052g0112	19	418	0.0455	-315	c.-46 others(11): Show c.-4645_-4331del	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		4184		chr19	TogoVar
CACNA2D3_chr3_54117552_55079557	54809302	TCCTTCTT others(308): Show TCCTTCTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp1 HG03041.hp1 others(2): Show HG02258.hp1 HG02976.hp1 HG03041.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0035 a0001c0037	a0001c0001t0012 a0001c0003t0001 a0001c0005t0003 others(2): Show a0001c0001t0012 a0001c0003t0001 a0001c0005t0003 a0001c0035t0001 a0001c0037t0004	a0001c0001t0012g0063 a0001c0003t0001g0042 a0001c0005t0003g0055 others(2): Show a0001c0001t0012g0063 a0001c0003t0001g0042 a0001c0005t0003g0055 a0001c0035t0001g0049 a0001c0037t0004g0019	5	118	0.0424	-315	c.138 others(19): Show c.1381-7545_1381-7231del	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54809308	TTTCTTTT others(308): Show TTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG TCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18906.hp2 NA21309.hp1 HG03453.hp1 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0013 a0001c0003 a0001c0005 a0001c0013	a0001c0003t0001 a0001c0005t0001 a0001c0013t0001 a0001c0003t0001 a0001c0005t0001 a0001c0013t0001	a0001c0003t0001g0026 a0001c0005t0001g0088 a0001c0013t0001g0093 a0001c0003t0001g0026 a0001c0005t0001g0088 a0001c0013t0001g0093	3	118	0.0254	-315	c.138 others(19): Show c.1381-7538_1381-7224del	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNG8_chr19_53957937_53995215	53962427	GGAGTGGA others(308): Show GGAGTGGAGAGAGATTTCATCTTATTTATTAATTATTAGCGGTGGTGGGG ACTCCTCCGAGTGGGGTTAGTGGGATGGTGGGACGACTTTCTTGGGCAGA AGACAGGAGTGGAGAGAGATTTCATCTTATTTATTAATTATTAGCGGTGG TGGGGACTCCTCCGAGTGGGGTTAGTGGGATGGTGGGACGACTTTCTTGG GCAGAAGACAGGAGTGGAGAGAGATTTCATCTTATTTATTAATTATTAGC GGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGGTGGGATGACTTT CTTGGGCAGAAGACAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0129 a0001c0001t0129	a0001c0001t0129g0191 a0001c0001t0129g0191	1	394	0.0025	-315	c.-71 others(9): Show c.-715_-401del	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		509		chr19	TogoVar
CAMK2B_chr7_44212154_44330594	44227047	GGGTGTGG others(308): Show GGGTGTGGGGGACAGAAGGGGTCATGGGGGATGGGGGTGCGTGAGGGGAC CAAGGTGGATGTGGGGGACAGAGGGAGTGTGGAGGACAGAGGGGGATGTG GGGGACAGAGAGAGGTGCAGGGGACAGAGGAGGGTGCAGGGGACAGAGGA GGGTGCAGGGGACAGAGGGGGATGTGGGGGACAGAGGGGAAGTGGAAGAC AGAGGGGGTGTGGGGGACAGAAGGCGGTGTGGGGAACAGAGGGGGAGGTG GGGGACAGAGGAGAGTATGGGGGACAGAGGGGGTGTGGGGGACAGAAGGG GGTGTGGAAGACAGGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00621.hp1 others(6): Show HG00280.hp1 HG00544.hp2 HG00621.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG02602.hp2 HG03654.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0010 a0001c0002t0001 a0001c0002t0006 others(2): Show a0001c0001t0010 a0001c0002t0001 a0001c0002t0006 a0001c0002t0017 a0001c0008t0001	a0001c0001t0010g0114 a0001c0002t0001g0101 a0001c0002t0001g0126 others(6): Show a0001c0001t0010g0114 a0001c0002t0001g0101 a0001c0002t0001g0126 a0001c0002t0001g0161 a0001c0002t0001g0196 a0001c0002t0006g0089 a0001c0002t0006g0178 a0001c0002t0017g0088 a0001c0008t0001g0041	9	242	0.0372	-315	c.146 others(17): Show c.1469-718_1469-404del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88933252	GCACGCCT others(308): Show GCACGCCTCACAGTGCCACACGTCTGCACGCCTCTGCACACGTCACGTGC CTCTATACGCCTCACACGCCTCACAGTGCCACACGTCTGCACGCCTCTGC ACACGTCACGTGCCTCTATACGCCTCACACGCCTCACAGTGCCACACGTC TGCACGCCTCTGCACACGTCACGTGCCTCTATACGCCTCACACGCCTCAC AGTGCCACACGTCTGCACGCCTCTGCACACGTCACGTGCCTCTATACGCC TCACACGCCTCACAGTGCCACACGTCTGCACGCCTCTGCACACGTCACGT GCCTCTATACGCCTCA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	284	0.0035	-315	c.152 others(19): Show c.152-31911_152-31597del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC60_chr12_119329729_119546040	119463998	CCTTCCTT others(308): Show CCTTCCTTACTTCCTCTTTCCTTCCTTCTTCCTTTTTTCTTCCCTCCCTC CCATTTTCCCTTCCTTCCTCTGCGCCTGGCCCAGAGATTTATTTAATTCG TAATTGGTTAAAGGAGCAAGAACTTTATTCAAACACTTGGAATCAGCAGA AAGGAAAGCTGAAGTTCCTGGGGGTTGGACTTCAATGTATGAATTTGGGG AGGACACAACTGAATCCATAGCACACACATTTCAGGATCCAGTAGGTTGC AGTTTCTGCACATCATCACGTAATATTTTGCCAGAGTTGGGTTGCAAGAG CAACCCCCCCCCCACT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(54): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02083.hp2 HG02145.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02809.hp2 HG02818.hp2 HG02970.hp2 HG03041.hp1 HG03540.hp2 HG03710.hp2 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18957.hp1 NA18963.hp1 NA18967.hp2 NA18979.hp1 NA18979.hp2 NA18985.hp1 NA18999.hp1 NA19004.hp2 NA19005.hp2 NA19064.hp1 NA19066.hp2 NA19079.hp2 NA19091.hp2 NA20905.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0012 a0015	a0001c0001 a0002c0002 a0004c0004 others(4): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005 a0006c0006 a0012c0014 a0015c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0002c0002t0001 a0002c0002t0002 a0004c0004t0004 a0005c0005t0003 a0006c0006t0003 a0006c0006t0004 a0012c0014t0003 a0015c0011t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0020 others(54): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0057 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0167 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0238 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0140 a0001c0001t0002g0145 a0001c0001t0002g0225 a0001c0001t0003g0003 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0004g0111 a0001c0001t0004g0118 a0001c0001t0004g0229 a0001c0001t0007g0016 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0002g0223 a0002c0002t0002g0224 a0004c0004t0004g0217 a0004c0004t0004g0221 a0005c0005t0003g0248 a0006c0006t0003g0173 a0006c0006t0004g0162 a0006c0006t0004g0163 a0012c0014t0003g0066 a0015c0011t0002g0154	57	256	0.2227	-315	c.171 others(17): Show c.171-7926_171-7612del	CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
CELF4_chr18_37238040_37570798	37337987	CCATTGTC others(308): Show CCATTGTCATCACTACTGTCACTGCCACCACCACCACTGTCGCTGCCACC ATCTGTTACCTTAACCTTGTCACTATGACTGTCACTGACACCATTGTCAC CACTATCATTGTCACCACTACTGTCACTGCCACCACCACCACTGTCGCTG CCACCATCTGTTACCTTAACCTTGTCACTATGACTGTCACTGACACCATT GTCACCACTATCATTGTCACCACTACTGTCACTGCCACCACCACCACTGT CACTGCCACCATCTGTTACCTTAACCTTGTCACTATGACTGTCACTGACA CCATTGTCACCACTAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02809.hp2 NA18971.hp2 others(1): Show HG02109.hp1 HG02809.hp2 NA18971.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0002t0019 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0019 a0001c0002t0024	a0001c0001t0001g0080 a0001c0001t0009g0028 a0001c0002t0019g0037 others(1): Show a0001c0001t0001g0080 a0001c0001t0009g0028 a0001c0002t0019g0037 a0001c0002t0024g0181	4	184	0.0217	-315	c.370 others(19): Show c.370-16421_370-16107del	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37337996	TCACTACT others(308): Show TCACTACTGTCACTGCCACCACCACCACTGTCGCTGCCACCATCTGTTAC CTTAACCTTGTCACTATGACTGTCACTGACACCATTGTCACCACTATCAT TGTCACCACTACTGTCACTGCCACCACCACCACTGTCGCTGCCACCATCT GTTACCTTAACCTTGTCACTATGACTGTCACTGACACCATTGTCACCACT ATCATTGTCACCACTACTGTCACTGCCACCACCACCACTGTCACTGCCAC CATCTGTTACCTTAACCTTGTCACTATGACTGTCACTGACACCATTGTCA CCACTATCATTGTCAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0017 a0001c0001t0006g0017	1	184	0.0054	-315	c.370 others(19): Show c.370-16430_370-16116del	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CEP131_chr17_81184596_81227965	81209678	GCGCTCGG others(308): Show GCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCG GACGCTAAGCGAGGATCAGACCGCTCGGAGAAGCGGACGCTAAGCGAGGA TCAGAGCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAG AAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGC GAGGATCAGACCGCTCCGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCT CGGAGAAGCGGACGCTAAGCGAGGATCAGAGCGCTCGGAGAAGCGGACGC TAAGCGAGGATCAGAC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01928.hp2 others(13): Show HG01070.hp2 HG01071.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG02080.hp1 HG02080.hp2 HG02273.hp2 HG02738.hp2 HG03704.hp2 HG03942.hp1 HG04199.hp1 NA18956.hp1 NA18991.hp2 NA19010.hp2 NA19090.hp2	a0001 a0006 a0020 others(1): Show a0001 a0006 a0020 a0033	a0001c0001 a0001c0012 a0006c0007 others(2): Show a0001c0001 a0001c0012 a0006c0007 a0020c0066 a0033c0065	a0001c0001t0001 a0001c0012t0001 a0006c0007t0001 others(2): Show a0001c0001t0001 a0001c0012t0001 a0006c0007t0001 a0020c0066t0001 a0033c0065t0001	a0001c0001t0001g0021 a0001c0001t0001g0136 a0001c0001t0001g0196 others(9): Show a0001c0001t0001g0021 a0001c0001t0001g0136 a0001c0001t0001g0196 a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0012t0001g0144 a0006c0007t0001g0004 a0006c0007t0001g0193 a0006c0007t0001g0218 a0020c0066t0001g0215 a0033c0065t0001g0233	16	384	0.0417	-315	c.178 others(15): Show c.178-971_178-657del	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CHL1_chr3_191763_414417	262109	TAGATCTA others(308): Show TAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG04228.hp1 NA18952.hp2 HG03688.hp1 HG04228.hp1 NA18952.hp2	a0001 a0009 a0013 a0001 a0009 a0013	a0001c0001 a0009c0010 a0013c0021 a0001c0001 a0009c0010 a0013c0021	a0001c0001t0002 a0009c0010t0002 a0013c0021t0001 a0001c0001t0002 a0009c0010t0002 a0013c0021t0001	a0001c0001t0002g0005 a0009c0010t0002g0035 a0013c0021t0001g0234 a0001c0001t0002g0005 a0009c0010t0002g0035 a0013c0021t0001g0234	3	290	0.0103	-315	c.-95 others(19): Show c.-95+17524_-95+17838del	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHSY1_chr15_101170727_101257048	101202148	GGCATTTC others(308): Show GGCATTTCTGCAGGGGGGGCAGTGGGATCTCAGACACAGCAGAGGCTGCA GGGGAGGATGGAGGGCATTTCTGCAGGAGGGGCAGTGGGATCTCAGACAC AGCAGAGGCTGCAGGGGAGGATGGAGGGCATTTCTGCAGGGGGGGCAGTG GGATCTCAGACACAGCAGAGGCTGCAGGGGAGGATGGAGGGCATTTCTGC AGGAGGGGCAGTGGGATCTCAGACACAGCAGAGGCTGCAGGGGAGGATGG AGGGCATTTCTGCAGGAGGGGCAGTGGGATCTCAGACACAGCAGAGGCTG CAGGGAAGGATGGAGC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0049 a0001c0029t0049	a0001c0029t0049g0285 a0001c0029t0049g0285	1	422	0.0024	-315	c.817 others(19): Show c.817-23483_817-23169del	CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2			chr15	TogoVar
CLEC2L_chr7_139518685_139549985	139522401	TAAAAGGG others(308): Show TAAAAGGGGCCGGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01257.hp2 HG01433.hp1 others(48): Show HG01081.hp1 HG01257.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp2 HG04199.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0002c0004 a0002c0009 a0003c0005 a0008c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001 a0001c0002t0004 a0001c0003t0002 a0001c0003t0013 a0001c0007t0003 a0002c0004t0001 a0002c0004t0005 a0002c0009t0003 a0003c0005t0002 a0003c0005t0006 a0008c0012t0004	a0001c0001t0002g0034 a0001c0001t0002g0102 a0001c0001t0002g0142 others(39): Show a0001c0001t0002g0034 a0001c0001t0002g0102 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0003g0026 a0001c0001t0004g0029 a0001c0001t0004g0153 a0001c0001t0005g0038 a0001c0001t0005g0103 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0101 a0001c0001t0006g0141 a0001c0001t0006g0146 a0001c0001t0006g0149 a0001c0001t0010g0106 a0001c0002t0001g0105 a0001c0002t0004g0009 a0001c0002t0004g0151 a0001c0002t0004g0154 a0001c0003t0002g0030 a0001c0003t0002g0033 a0001c0003t0002g0161 a0001c0003t0002g0162 a0001c0003t0013g0156 a0001c0007t0003g0104 a0002c0004t0001g0040 a0002c0004t0005g0021 a0002c0004t0005g0039 a0002c0009t0003g0160 a0003c0005t0002g0148 a0003c0005t0006g0032 a0008c0012t0004g0009	51	308	0.1656	-315	c.-15 others(11): Show c.-1526_-1212del	CLEC2L	ENSG00000236279.7	transcript	ENST00000422142.7	protein_coding		1283		chr7	TogoVar
COL4A1_chr13_110143963_110312157	110160144	TAAAAAAA others(308): Show TAAAAAAATTCATAGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACTC CGTCTCAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(60): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00642.hp1 HG01069.hp2 HG01109.hp1 HG01192.hp1 HG01884.hp2 HG01928.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02257.hp1 HG02630.hp2 HG02735.hp1 HG02809.hp1 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03669.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18954.hp2 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18978.hp2 NA18981.hp2 NA18984.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19058.hp2 NA19079.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0008 a0010	a0001c0001 a0001c0003 a0001c0006 others(27): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0032 a0001c0033 a0001c0050 a0001c0055 a0001c0065 a0001c0066 a0001c0069 a0002c0002 a0002c0004 a0002c0011 a0002c0015 a0002c0018 a0002c0024 a0002c0039 a0002c0040 a0002c0092 a0002c0100 a0002c0109 a0003c0012 a0003c0014 a0003c0038 a0004c0017 a0004c0067 a0007c0063 a0008c0054 a0010c0095	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(31): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0001c0032t0001 a0001c0033t0001 a0001c0050t0001 a0001c0055t0001 a0001c0065t0001 a0001c0066t0001 a0001c0069t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0015 a0002c0004t0001 a0002c0004t0002 a0002c0004t0007 a0002c0011t0001 a0002c0015t0002 a0002c0018t0001 a0002c0024t0002 a0002c0039t0002 a0002c0040t0002 a0002c0092t0002 a0002c0100t0001 a0002c0109t0002 a0003c0012t0002 a0003c0014t0002 a0003c0038t0001 a0004c0017t0001 a0004c0067t0001 a0007c0063t0003 a0008c0054t0001 a0010c0095t0002	a0001c0001t0001g0097 a0001c0001t0001g0133 a0001c0003t0001g0059 others(60): Show a0001c0001t0001g0097 a0001c0001t0001g0133 a0001c0003t0001g0059 a0001c0003t0001g0074 a0001c0003t0001g0092 a0001c0003t0001g0095 a0001c0003t0001g0119 a0001c0003t0001g0154 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0006t0001g0025 a0001c0006t0001g0057 a0001c0006t0001g0087 a0001c0007t0001g0034 a0001c0007t0001g0065 a0001c0007t0001g0070 a0001c0007t0001g0124 a0001c0032t0001g0083 a0001c0033t0001g0098 a0001c0033t0001g0099 a0001c0050t0001g0038 a0001c0055t0001g0064 a0001c0065t0001g0023 a0001c0066t0001g0151 a0001c0069t0001g0160 a0002c0002t0001g0175 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0002g0270 a0002c0002t0002g0297 a0002c0002t0015g0322 a0002c0004t0001g0190 a0002c0004t0001g0204 a0002c0004t0001g0207 a0002c0004t0001g0236 a0002c0004t0001g0250 a0002c0004t0001g0256 a0002c0004t0002g0287 a0002c0004t0002g0314 a0002c0004t0007g0174 a0002c0011t0001g0184 a0002c0015t0002g0317 a0002c0018t0001g0171 a0002c0018t0001g0176 a0002c0018t0001g0197 a0002c0018t0001g0224 a0002c0024t0002g0282 a0002c0039t0002g0271 a0002c0039t0002g0302 a0002c0040t0002g0339 a0002c0092t0002g0341 a0002c0100t0001g0177 a0002c0109t0002g0267 a0003c0012t0002g0279 a0003c0014t0002g0284 a0003c0038t0001g0196 a0003c0038t0001g0228 a0004c0017t0001g0010 a0004c0017t0001g0093 a0004c0067t0001g0007 a0007c0063t0003g0106 a0008c0054t0001g0139 a0010c0095t0002g0283	63	344	0.1831	-315	c.464 others(18): Show c.4640+733_4640+1047del	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	49/51			chr13	TogoVar
CPNE7_chr16_89570758_89602246	89591935	ATGATCCA others(308): Show ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGTGCCCGGCATTCTTTTTTTTGTTGTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCACCCAGGCTGGAAGTGTAGTGGCGCAATCTCCGCTCAC TGCAACCTCCCCCTCCCAGGTTCGCGCCATTCTCCTGCCTCAGCCTCCTA AGTAGCTGGGACTACAGGCGCCCACCATCATGCCCGGCTAATTTTTTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCGAGGATGGTCT CGATCTCCTGACCTCG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0013 a0001c0009t0001g0013	1	348	0.0029	-315	c.130 others(18): Show c.1302+718_1302+1032del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240977455	AGCTCTGG others(308): Show AGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTC TGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGG TAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGA GCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTC AGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAG CCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAG ACTCATCCCTGCTCAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01081.hp2 HG01175.hp2 others(24): Show HG00544.hp2 HG01081.hp2 HG01175.hp2 HG02004.hp2 HG02080.hp2 HG02129.hp2 HG02300.hp2 HG03688.hp1 HG03831.hp2 HG03942.hp2 NA18612.hp2 NA18952.hp1 NA18954.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18973.hp2 NA18984.hp1 NA18986.hp2 NA19005.hp1 NA19012.hp2 NA19065.hp1 NA19070.hp1 NA19080.hp2 NA19082.hp2 NA19090.hp2	a0001 a0005 a0007 others(4): Show a0001 a0005 a0007 a0009 a0022 a0029 a0040	a0001c0001 a0001c0022 a0001c0089 others(6): Show a0001c0001 a0001c0022 a0001c0089 a0005c0005 a0007c0006 a0009c0010 a0022c0038 a0029c0049 a0040c0057	a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 a0001c0089t0001 a0005c0005t0001 a0007c0006t0001 a0007c0006t0003 a0007c0006t0009 a0009c0010t0001 a0022c0038t0001 a0029c0049t0001 a0040c0057t0002	a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0001g0084 others(24): Show a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0155 a0001c0001t0001g0191 a0001c0001t0002g0248 a0001c0001t0002g0306 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0022t0002g0322 a0001c0022t0002g0343 a0001c0089t0001g0139 a0005c0005t0001g0016 a0005c0005t0001g0075 a0007c0006t0001g0013 a0007c0006t0001g0055 a0007c0006t0003g0098 a0007c0006t0009g0102 a0009c0010t0001g0115 a0009c0010t0001g0200 a0009c0010t0001g0223 a0022c0038t0001g0050 a0029c0049t0001g0198 a0040c0057t0002g0335	27	350	0.0771	-315	c.440 others(19): Show c.4402-5380_4402-5066del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 10000 hits)