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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
LRBA_chr4_150259435_151020284	150420387	GTATATAT others(314): Show GTATATATAAAGTATATATAATACACATTATAGTATATATAAAGTATATA TAATACATATATAATATATAAAGTATATATAATACACATTATAATATATA TAAAGTATATATAATACACATTATAATATATATAAAGTATATATAATACA CATTATAATATATATAAAGTATATATAATACACATTATAATATATATAAA GTATATATAATACACATTATAATATATATAAAGTATATATAATACACATT ATAATATATATAAAGTATATATAATACACATTATAATATATATAAAGTAT ATATAATACACATTATAATATA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02622.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0051 a0001c0001t0007g0050 a0001c0001t0001g0051 a0001c0001t0007g0050	2	180	0.0111	-321	c.704 others(19): Show c.7042-5118_7042-4798del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	46/56			chr4	TogoVar
MAP3K7_chr6_90508579_90592072	90527856	TTCATAAG others(314): Show TTCATAAGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(220): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18963.hp2 NA18966.hp1 NA18970.hp1 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19086.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0002t0004 a0002c0003t0006	a0001c0001t0001g0071 a0001c0001t0001g0091 a0001c0001t0002g0001 others(173): Show a0001c0001t0001g0071 a0001c0001t0001g0091 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0004g0004 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0061 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0137 a0001c0001t0004g0146 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0206 a0001c0001t0004g0220 a0001c0001t0005g0002 a0001c0001t0005g0009 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0006g0012 a0001c0001t0006g0129 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0006g0135 a0001c0001t0006g0136 a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0006g0141 a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0158 a0001c0001t0007g0029 a0001c0001t0007g0075 a0001c0001t0007g0126 a0001c0001t0007g0127 a0001c0001t0007g0128 a0001c0001t0007g0150 a0001c0001t0007g0151 a0001c0001t0007g0157 a0001c0001t0007g0184 a0001c0001t0008g0003 a0001c0001t0008g0065 a0001c0001t0008g0073 a0001c0001t0008g0097 a0001c0001t0008g0109 a0001c0001t0008g0153 a0001c0001t0009g0086 a0001c0001t0009g0106 a0001c0001t0009g0122 a0001c0001t0009g0123 a0001c0001t0009g0124 a0001c0001t0012g0018 a0001c0001t0013g0064 a0001c0001t0013g0260 a0001c0001t0014g0113 a0001c0001t0014g0115 a0001c0001t0015g0037 a0001c0001t0016g0041 a0001c0001t0017g0046 a0001c0001t0018g0267 a0001c0001t0020g0052 a0001c0001t0021g0062 a0001c0001t0022g0042 a0001c0001t0023g0063 a0001c0002t0004g0112 a0001c0002t0004g0125 a0002c0003t0006g0142	223	344	0.6483	-321	c.135 others(19): Show c.1357-4394_1357-4074del	MAP3K7	ENSG00000135341.19	transcript	ENST00000369329.8	protein_coding	13/16			chr6	TogoVar
MIER2_chr19_300573_349796	300692	AGAGACTG others(314): Show AGAGACTGTGGGTCACCCATGGCCGTGACACCAGTGACAGTGACTGTGGG ACACCCATGGCCGTGACACCAGTGACTGGAGAGACTGTGGGACACCCATG GCCGTGACACCAGTGACTGGAGAGACTGTGGGTCACCCAGGGCCGTGACA CCAGTGACTGGAGAGACTGTGGGTCACCCAGGGCCGTGACACCAGTGACT GCAGAGACTGTGGGACACCCATGGCCGTGACACCAGTGACTGGAGACTGT GGGACACCCATGGCCGTGACACCAGTGACTGGAGAGACTGTGGGTCACCC AGGGCCGTGACACCAGTGACTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 NA19081.hp1 HG00738.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0106 a0001c0001t0001g0001 a0001c0001t0001g0106	2	384	0.0052	-321	c.56 others(11): Show c.5677_*5997del	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		4880		chr19	TogoVar
MPPED1_chr22_43407014_43512848	43495480	TGGTGGTG others(314): Show TGGTGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGTGGAGGTGGTG GTGGTGGAGATGGTGGTGGTGGAGATGGTGGTGGTGGAGGTGATGGTGGA GGTGGTGGTGGTGGAGGTGGTGATGGTGGAGGTAGTAGTGGTGGAGATGG TGGTGGTGGAGGTGATGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTG GAGATGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGGTGGTGGAGGTGGT GGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGG TGGTGGTGGAGGTGGTGATGGA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0052 a0001c0005t0001g0052	1	250	0.0040	-321	c.633 others(17): Show c.633-2746_633-2426del	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSLN_chr16_755734_773862	767619	GGCGTGGA others(314): Show GGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTG GGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGTGTGGGGGGGCGTGGA GGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGAGGGGC GCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGG GCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAG GGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGT GGAGGGGGCACGTGGAGGGGTC	G G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0301 a0001c0008t0001g0301	1	388	0.0026	-321	c.159 others(17): Show c.1596+174_1597-415del	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
NCEH1_chr3_172625249_172716067	172683106	TAAGAAGC others(314): Show TAAGAAGCGGAGGCAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCAGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(124): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18964.hp2 NA18968.hp1 NA18971.hp1 NA18977.hp2 NA18981.hp2 NA18984.hp1 NA18987.hp1 NA18988.hp2 NA18992.hp1 NA18999.hp2 NA19001.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19086.hp1 NA19087.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0040 a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0018 a0003c0003t0009	a0001c0001t0001g0272 a0001c0001t0001g0307 a0001c0001t0002g0010 others(123): Show a0001c0001t0001g0272 a0001c0001t0001g0307 a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0055 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0162 a0001c0001t0003g0191 a0001c0001t0003g0199 a0001c0001t0003g0285 a0001c0001t0003g0293 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0004g0002 a0001c0001t0004g0170 a0001c0001t0004g0273 a0001c0001t0004g0312 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0326 a0001c0001t0005g0003 a0001c0001t0005g0005 a0001c0001t0005g0011 a0001c0001t0005g0013 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0036 a0001c0001t0005g0059 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0005g0087 a0001c0001t0005g0098 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0001t0005g0112 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0134 a0001c0001t0005g0152 a0001c0001t0006g0210 a0001c0001t0006g0274 a0001c0001t0006g0287 a0001c0001t0006g0322 a0001c0001t0006g0323 a0001c0001t0006g0324 a0001c0001t0006g0328 a0001c0001t0007g0007 a0001c0001t0007g0038 a0001c0001t0007g0039 a0001c0001t0007g0088 a0001c0001t0007g0100 a0001c0001t0007g0111 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0133 a0001c0001t0007g0155 a0001c0001t0007g0158 a0001c0001t0007g0163 a0001c0001t0008g0017 a0001c0001t0008g0019 a0001c0001t0008g0020 a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0060 a0001c0001t0008g0062 a0001c0001t0008g0107 a0001c0001t0008g0110 a0001c0001t0009g0026 a0001c0001t0009g0043 a0001c0001t0009g0052 a0001c0001t0009g0057 a0001c0001t0009g0114 a0001c0001t0010g0008 a0001c0001t0010g0009 a0001c0001t0010g0023 a0001c0001t0011g0004 a0001c0001t0011g0014 a0001c0001t0011g0045 a0001c0001t0011g0064 a0001c0001t0011g0095 a0001c0001t0012g0044 a0001c0001t0014g0025 a0001c0001t0015g0054 a0001c0001t0017g0091 a0001c0001t0017g0097 a0001c0001t0019g0212 a0001c0001t0020g0295 a0001c0001t0020g0327 a0001c0001t0025g0035 a0001c0001t0027g0061 a0001c0001t0028g0027 a0001c0001t0029g0105 a0001c0001t0030g0121 a0001c0001t0032g0006 a0001c0001t0033g0167 a0001c0001t0040g0169 a0002c0002t0002g0024 a0002c0002t0002g0050 a0002c0002t0002g0106 a0002c0002t0003g0286 a0002c0002t0003g0313 a0002c0002t0009g0041 a0002c0002t0009g0056 a0002c0002t0018g0127 a0002c0002t0018g0130 a0002c0002t0018g0131 a0003c0003t0009g0053	127	332	0.3825	-321	c.138 others(19): Show c.138+27420_138+27740del	NCEH1	ENSG00000144959.11	transcript	ENST00000475381.7	protein_coding	1/4			chr3	TogoVar
OTUD7A_chr15_31470398_31875673	31510559	TACATATG others(314): Show TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TATATGTATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0096 a0001c0001t0007g0096	1	244	0.0041	-321	c.894 others(17): Show c.894-7062_894-6742del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31510607	CATACATA others(314): Show CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATA TATGTATATCTATATGTAACAT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0048 a0001c0004t0048	a0001c0004t0048g0070 a0001c0004t0048g0070	1	244	0.0041	-321	c.894 others(17): Show c.894-7110_894-6790del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511305	CATATATA others(314): Show CATATATATGTATATCTATATGTAACACACATATATATGTATATCTATAT GTAACACACATATATATGTATATCTATATGTAACACATATATATGTATAT CTATATGTAACACACACATATATGTATATCTATATGTAACACACACATAT ATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAACAC ACACATATATGTATATCTATATGTAACACACACATATATGTATATCTATA TGTAACACACACATATATGTATATCTATATGTAACACACACATATATGTA TATCTATATGTAACACACACAT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	244	0.0041	-321	c.894 others(17): Show c.894-7808_894-7488del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PAK1_chr11_77317017_77479094	77451577	TTCTCTCG others(314): Show TTCTCTCGTTAATGTCTTTTGTTTTTTTTTGTTTTTTTTTTGAGACGGCG TCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATTTCTGCTCACT GCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCACCACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATTTTGGTCAGGCTGTCTCGAACTCCT GACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCACGCCCGACC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG02109.hp2 others(8): Show HG00099.hp2 HG00639.hp2 HG02109.hp2 HG02451.hp1 HG02486.hp2 HG02965.hp1 HG02976.hp2 HG03130.hp2 HG03209.hp2 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0008 a0001c0001t0001 a0001c0001t0007 a0001c0002t0008	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 others(8): Show a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0007g0231 a0001c0001t0007g0232 a0001c0001t0007g0233 a0001c0002t0008g0024 a0001c0002t0008g0025	11	302	0.0364	-321	c.-22 others(19): Show c.-22+21654_-22+21974del	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PDZD2_chr5_31634131_32115932	31677317	TAAAAAGG others(314): Show TAAAAAGGAGGTATATCCGGCCGGGCGCAGTGGCTCACGCCTGTAATCCC GGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAGCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTGCTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCCGGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTTA AAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(187): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18953.hp1 NA18953.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(30): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0030 a0031 a0032 a0033 a0034 a0035 a0036	a0001c0001 a0001c0005 a0001c0007 others(55): Show a0001c0001 a0001c0005 a0001c0007 a0001c0010 a0001c0017 a0001c0022 a0001c0026 a0001c0034 a0001c0035 a0001c0044 a0001c0050 a0001c0056 a0001c0062 a0002c0002 a0002c0003 a0002c0011 a0002c0012 a0002c0040 a0002c0063 a0003c0004 a0003c0008 a0003c0027 a0003c0038 a0004c0006 a0004c0029 a0004c0041 a0005c0009 a0006c0015 a0006c0016 a0007c0013 a0008c0014 a0009c0018 a0009c0020 a0010c0023 a0010c0039 a0011c0065 a0012c0064 a0013c0019 a0014c0021 a0015c0028 a0018c0047 a0019c0046 a0020c0059 a0021c0031 a0022c0057 a0023c0058 a0024c0054 a0025c0037 a0026c0052 a0027c0025 a0028c0051 a0030c0049 a0031c0030 a0032c0061 a0033c0042 a0034c0033 a0035c0043 a0036c0060	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(104): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0041 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0024 a0001c0005t0048 a0001c0007t0009 a0001c0007t0047 a0001c0010t0015 a0001c0010t0043 a0001c0017t0023 a0001c0022t0001 a0001c0026t0002 a0001c0034t0019 a0001c0035t0039 a0001c0044t0001 a0001c0050t0036 a0001c0056t0001 a0001c0062t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0018 a0002c0002t0025 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0011 a0002c0003t0020 a0002c0011t0001 a0002c0011t0002 a0002c0012t0002 a0002c0012t0003 a0002c0040t0032 a0002c0063t0002 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 a0003c0004t0011 a0003c0004t0026 a0003c0004t0027 a0003c0004t0042 a0003c0004t0045 a0003c0008t0004 a0003c0008t0006 a0003c0008t0012 a0003c0027t0012 a0003c0038t0001 a0004c0006t0007 a0004c0006t0010 a0004c0029t0049 a0004c0041t0031 a0005c0009t0009 a0005c0009t0013 a0006c0015t0040 a0006c0015t0046 a0006c0016t0001 a0006c0016t0002 a0007c0013t0004 a0008c0014t0001 a0009c0018t0006 a0009c0020t0001 a0010c0023t0029 a0010c0039t0030 a0011c0065t0004 a0012c0064t0001 a0013c0019t0007 a0014c0021t0003 a0015c0028t0004 a0018c0047t0001 a0019c0046t0014 a0020c0059t0001 a0021c0031t0001 a0022c0057t0001 a0023c0058t0001 a0024c0054t0009 a0025c0037t0001 a0026c0052t0003 a0027c0025t0001 a0028c0051t0008 a0030c0049t0008 a0031c0030t0033 a0032c0061t0016 a0033c0042t0014 a0034c0033t0007 a0035c0043t0002 a0036c0060t0014	a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0047 others(187): Show a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0194 a0001c0001t0002g0036 a0001c0001t0002g0056 a0001c0001t0002g0075 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0023 a0001c0001t0003g0032 a0001c0001t0004g0208 a0001c0001t0006g0041 a0001c0001t0006g0070 a0001c0001t0006g0116 a0001c0001t0008g0161 a0001c0001t0010g0040 a0001c0001t0016g0057 a0001c0001t0017g0184 a0001c0001t0017g0185 a0001c0001t0018g0128 a0001c0001t0020g0019 a0001c0001t0021g0149 a0001c0001t0022g0170 a0001c0001t0034g0139 a0001c0001t0035g0102 a0001c0001t0037g0154 a0001c0001t0041g0210 a0001c0005t0001g0091 a0001c0005t0001g0123 a0001c0005t0001g0182 a0001c0005t0002g0100 a0001c0005t0003g0014 a0001c0005t0024g0119 a0001c0005t0048g0002 a0001c0007t0009g0058 a0001c0007t0009g0142 a0001c0007t0009g0172 a0001c0007t0047g0035 a0001c0010t0015g0196 a0001c0010t0015g0199 a0001c0010t0043g0034 a0001c0017t0023g0071 a0001c0022t0001g0087 a0001c0026t0002g0077 a0001c0034t0019g0212 a0001c0035t0039g0209 a0001c0044t0001g0145 a0001c0050t0036g0148 a0001c0056t0001g0053 a0001c0062t0003g0029 a0002c0002t0001g0076 a0002c0002t0001g0084 a0002c0002t0001g0104 a0002c0002t0001g0111 a0002c0002t0001g0120 a0002c0002t0001g0126 a0002c0002t0001g0143 a0002c0002t0001g0153 a0002c0002t0002g0050 a0002c0002t0002g0106 a0002c0002t0002g0144 a0002c0002t0002g0214 a0002c0002t0003g0021 a0002c0002t0003g0026 a0002c0002t0005g0007 a0002c0002t0005g0024 a0002c0002t0006g0131 a0002c0002t0006g0155 a0002c0002t0018g0158 a0002c0002t0025g0069 a0002c0003t0001g0118 a0002c0003t0002g0042 a0002c0003t0002g0049 a0002c0003t0002g0092 a0002c0003t0002g0093 a0002c0003t0002g0103 a0002c0003t0002g0108 a0002c0003t0002g0132 a0002c0003t0002g0133 a0002c0003t0002g0150 a0002c0003t0002g0192 a0002c0003t0002g0197 a0002c0003t0005g0016 a0002c0003t0005g0017 a0002c0003t0005g0018 a0002c0003t0005g0028 a0002c0003t0011g0067 a0002c0003t0011g0110 a0002c0003t0020g0033 a0002c0011t0001g0080 a0002c0011t0001g0082 a0002c0011t0002g0085 a0002c0012t0002g0078 a0002c0012t0003g0011 a0002c0040t0032g0105 a0002c0063t0002g0090 a0003c0004t0001g0099 a0003c0004t0001g0129 a0003c0004t0001g0163 a0003c0004t0002g0074 a0003c0004t0003g0022 a0003c0004t0004g0113 a0003c0004t0004g0115 a0003c0004t0004g0122 a0003c0004t0004g0156 a0003c0004t0005g0031 a0003c0004t0011g0051 a0003c0004t0011g0124 a0003c0004t0026g0065 a0003c0004t0027g0101 a0003c0004t0042g0025 a0003c0004t0045g0027 a0003c0008t0004g0121 a0003c0008t0006g0109 a0003c0008t0012g0020 a0003c0008t0012g0030 a0003c0027t0012g0015 a0003c0038t0001g0055 a0004c0006t0007g0190 a0004c0006t0007g0201 a0004c0006t0007g0202 a0004c0006t0010g0073 a0004c0006t0010g0173 a0004c0006t0010g0206 a0004c0029t0049g0001 a0004c0041t0031g0114 a0005c0009t0009g0063 a0005c0009t0013g0167 a0005c0009t0013g0174 a0005c0009t0013g0203 a0006c0015t0040g0213 a0006c0015t0046g0005 a0006c0016t0001g0061 a0006c0016t0002g0043 a0007c0013t0004g0198 a0008c0014t0001g0159 a0009c0018t0006g0177 a0009c0020t0001g0188 a0010c0023t0029g0141 a0010c0039t0030g0216 a0011c0065t0004g0168 a0012c0064t0001g0191 a0013c0019t0007g0205 a0014c0021t0003g0012 a0015c0028t0004g0079 a0018c0047t0001g0189 a0019c0046t0014g0157 a0020c0059t0001g0060 a0021c0031t0001g0147 a0022c0057t0001g0137 a0023c0058t0001g0135 a0024c0054t0009g0039 a0025c0037t0001g0127 a0026c0052t0003g0003 a0027c0025t0001g0125 a0028c0051t0008g0169 a0030c0049t0008g0160 a0031c0030t0033g0064 a0032c0061t0016g0193 a0033c0042t0014g0187 a0034c0033t0007g0072 a0035c0043t0002g0089 a0036c0060t0014g0204	190	216	0.8796	-321	c.-36 others(21): Show c.-361+37898_-361+38218del	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRKCZ_chr1_2045411_2190395	2123992	GTGGTGGT others(314): Show GTGGTGGTTAGGGTCACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGT CACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTA GGGTCACGGCGACGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTG GTTAGGGTCACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGC TGTAGTTAGGGTCACGGCTGTAGTTAGCGTCACGGTGGTGGTTAGGGTCA CGGTGGTGGTTAGGGTCATGGCGGTAGTTAGGGTCACGGCTGTAGTTAGC GTCACGGTGGTAGTTAGGGTCA	G G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	286	0.0035	-321	c.335 others(19): Show c.335-11269_335-10949del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123993	TGGTGGTT others(314): Show TGGTGGTTAGGGTCACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGTC ACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAG GGTCACGGCGACGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGG TTAGGGTCACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCT GTAGTTAGGGTCACGGCTGTAGTTAGCGTCACGGTGGTGGTTAGGGTCAC GGTGGTGGTTAGGGTCATGGCGGTAGTTAGGGTCACGGCTGTAGTTAGCG TCACGGTGGTAGTTAGGGTCAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	286	0.0035	-321	c.335 others(19): Show c.335-11262_335-10942del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	162472480	TTATTTTA others(314): Show TTATTTTATTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCA GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAC CGCGCCCGGCCCCAAACTTTTA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03209.hp2 HG03195.hp1 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0001 a0001c0008t0010 a0001c0003t0001 a0001c0008t0010	a0001c0003t0001g0032 a0001c0008t0010g0014 a0001c0003t0001g0032 a0001c0008t0010g0014	2	32	0.0625	-321	c.8-2 others(15): Show c.8-29328_8-29008del	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
RNF213_chr17_80255852_80403794	80314038	TGATGGTG others(314): Show TGATGGTGGAGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGAGGTG ATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGT ACTGGAGGTGATGGTGGTGGTGTAGGTGATGGTGGAGGTGATGGTGGTGG TGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGAAGGTGATG GTGGAGGTACTGGAGGTGATGGTGGTAAAGGTGATGGTGGAGGTACTGGA GGTGATGGTGGTGGACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGG TGGTGGTGGTGGAGGTACTGGA	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0095 a0095	a0095c0040 a0095c0040	a0095c0040t0003 a0095c0040t0003	a0095c0040t0003g0196 a0095c0040t0003g0196	1	292	0.0034	-321	c.281 others(18): Show c.2811+873_2811+1193del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RUNDC3B_chr7_87623398_87837296	87626368	GTGTCATA others(314): Show GTGTCATATGTATGTGTCATATATATGTGTCATATGTATGTGTCATATAT ATGTGTCATATGTATGTGTCATATATGTGTCATATATATGTGTCATATAT GTGTCATATATATGTGTCATATATATGTGTCATATATGTGTCATATATAT GTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATATAT GTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATAT ATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATAT ATATGTGTCATATATATGTGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0155 a0001c0001t0014g0155	1	202	0.0050	-321	c.-24 others(11): Show c.-2455_-2135del	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2029		chr7	TogoVar
SCNN1D_chr1_1275436_1297025	1289843	CCGTGTCC others(314): Show CCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	290	0.0035	-321	c.166 others(17): Show c.1663-426_1663-106del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDHA_chr5_213320_262082	261510	GCCTCCCG others(314): Show GCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCT CCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACCG TGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCG GCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTG AGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGACAG AGCATTACCGTGTGAGCTCCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00639.hp1 HG00673.hp1 others(22): Show HG00544.hp2 HG00639.hp1 HG00673.hp1 HG01106.hp1 HG01167.hp2 HG01192.hp1 HG01934.hp2 HG01993.hp1 HG02071.hp2 NA18942.hp2 NA18950.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18968.hp1 NA18971.hp2 NA18990.hp2 NA18992.hp1 NA18998.hp1 NA19010.hp2 NA19056.hp2 NA19062.hp2 NA19064.hp2 NA19077.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 others(11): Show a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0019 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0057 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0005g0001	25	266	0.0940	-321	c.50 others(11): Show c.5091_*5411del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4429		chr5	TogoVar
SDHA_chr5_213320_262082	261745	GAGCATTA others(314): Show GAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGC TCCGCCCCCCGACAGAGCATTACCGTGTGAGCTCCGCCCTCCCGTCAGAG CATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCC GCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATT ACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCT CCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCG TGTGAGCTCCGCCTCCCGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA20752.hp1 NA18988.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0056 a0001c0001t0002g0058	2	266	0.0075	-321	c.53 others(11): Show c.5326_*5646del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4664		chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116558440	TAAGGATT others(314): Show TAAGGATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(208): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp2 NA18984.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp1 NA19079.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0009	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0014 a0001c0017 a0002c0002 a0004c0006 a0006c0012 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(70): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0039 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0052 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0084 a0001c0001t0086 a0001c0003t0004 a0001c0003t0049 a0001c0003t0055 a0001c0003t0073 a0001c0003t0083 a0001c0003t0085 a0001c0004t0001 a0001c0004t0035 a0001c0011t0015 a0001c0014t0001 a0001c0017t0077 a0002c0002t0009 a0002c0002t0011 a0002c0002t0075 a0002c0002t0076 a0002c0002t0082 a0004c0006t0081 a0006c0012t0001 a0009c0008t0067	a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 others(206): Show a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0003g0001 a0001c0001t0003g0009 a0001c0001t0003g0038 a0001c0001t0003g0046 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0048 a0001c0001t0004g0116 a0001c0001t0004g0204 a0001c0001t0005g0096 a0001c0001t0005g0098 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0130 a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0108 a0001c0001t0007g0056 a0001c0001t0007g0060 a0001c0001t0007g0083 a0001c0001t0007g0087 a0001c0001t0007g0095 a0001c0001t0008g0002 a0001c0001t0008g0272 a0001c0001t0008g0276 a0001c0001t0008g0285 a0001c0001t0008g0288 a0001c0001t0008g0290 a0001c0001t0010g0226 a0001c0001t0010g0233 a0001c0001t0010g0247 a0001c0001t0010g0251 a0001c0001t0010g0257 a0001c0001t0011g0252 a0001c0001t0011g0258 a0001c0001t0011g0259 a0001c0001t0012g0040 a0001c0001t0012g0066 a0001c0001t0012g0082 a0001c0001t0013g0054 a0001c0001t0013g0073 a0001c0001t0013g0103 a0001c0001t0014g0114 a0001c0001t0015g0085 a0001c0001t0015g0094 a0001c0001t0015g0105 a0001c0001t0016g0230 a0001c0001t0016g0239 a0001c0001t0016g0244 a0001c0001t0016g0268 a0001c0001t0017g0044 a0001c0001t0019g0062 a0001c0001t0019g0086 a0001c0001t0021g0255 a0001c0001t0021g0262 a0001c0001t0021g0267 a0001c0001t0022g0275 a0001c0001t0022g0287 a0001c0001t0022g0297 a0001c0001t0023g0281 a0001c0001t0023g0282 a0001c0001t0023g0296 a0001c0001t0024g0039 a0001c0001t0025g0170 a0001c0001t0025g0172 a0001c0001t0026g0045 a0001c0001t0029g0235 a0001c0001t0029g0236 a0001c0001t0030g0246 a0001c0001t0030g0260 a0001c0001t0031g0279 a0001c0001t0031g0286 a0001c0001t0032g0284 a0001c0001t0032g0294 a0001c0001t0033g0298 a0001c0001t0033g0299 a0001c0001t0034g0273 a0001c0001t0034g0289 a0001c0001t0036g0003 a0001c0001t0039g0050 a0001c0001t0045g0146 a0001c0001t0046g0025 a0001c0001t0047g0113 a0001c0001t0052g0206 a0001c0001t0054g0047 a0001c0001t0056g0080 a0001c0001t0057g0070 a0001c0001t0060g0029 a0001c0001t0061g0107 a0001c0001t0062g0018 a0001c0001t0063g0147 a0001c0001t0064g0207 a0001c0001t0068g0217 a0001c0001t0069g0218 a0001c0001t0070g0232 a0001c0001t0071g0238 a0001c0001t0072g0242 a0001c0001t0074g0227 a0001c0001t0078g0280 a0001c0001t0079g0293 a0001c0001t0080g0291 a0001c0001t0084g0301 a0001c0001t0086g0295 a0001c0003t0004g0008 a0001c0003t0004g0021 a0001c0003t0049g0017 a0001c0003t0055g0190 a0001c0003t0073g0256 a0001c0003t0083g0278 a0001c0003t0085g0300 a0001c0004t0001g0069 a0001c0004t0035g0274 a0001c0011t0015g0110 a0001c0014t0001g0034 a0001c0017t0077g0277 a0002c0002t0009g0057 a0002c0002t0009g0078 a0002c0002t0011g0216 a0002c0002t0011g0220 a0002c0002t0011g0222 a0002c0002t0075g0269 a0002c0002t0076g0270 a0002c0002t0082g0271 a0004c0006t0081g0283 a0006c0012t0001g0053 a0009c0008t0067g0225	211	304	0.6941	-321	c.-39 others(19): Show c.-39+15424_-39+15744del	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	1/18			chr5	TogoVar
SPTAN1_chr9_128547587_128638662	128600702	ACCCAGGC others(314): Show ACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCGCC TCCCCAGTTCGAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCATGTGCCACCATGCCTGGCAAATTTTTGTATTTTTAGTAGAGAC AGGGTTTCGCCATGTTGGCCAGGGTGGTCTTTAACTCCTGACCTCAGGTG ATCTGCCTGCCTCAGCCTTCCAAAGTGTTGGGATTACAGGCCTGAGTCAC AGCACACAGCCAGGGAGAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTTG	A A	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	312	0.0032	-321	c.357 others(17): Show c.3579+611_3579+931del	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	27/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
STON2_chr14_81255652_81405324	81288724	GAAAAGGG others(314): Show GAAAAGGGGGCTCTTTTTGTTTCGGAGGTTAAAAGAGAAGGTGTCCTATA TCTACAGGTACCATAAGGGAGAATGTATCATAGGAGCAAGGGAAAAAGGG TGGGGGGGTCTCCATTCTTACTGATTTTAGCACACTTCTTATACCCATGC CAGGGCTGGGGAGCCAGAAAAAGTACTTCCTGGAGGAGCACTGGGTAAGT CCCCAGAAGCAGTGGCAGGACTATAATGCCCACACTCTTACTGTGACCAG GACAGGTGACTCATTAGGACTGCCCTCTGCCACAGAAGTCTCACTCATGT GCACCTCCACATCCTCACTATT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02965.hp2 HG01891.hp2 HG02055.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0053 a0001c0001t0054 a0002c0002t0007 a0001c0001t0053 a0001c0001t0054 a0002c0002t0007	a0001c0001t0053g0194 a0001c0001t0054g0219 a0002c0002t0007g0251 a0001c0001t0053g0194 a0001c0001t0054g0219 a0002c0002t0007g0251	3	264	0.0114	-321	c.743 others(18): Show c.743-10306_743-9986del	STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7			chr14	TogoVar
SUZ12_chr17_31932007_32006038	31933603	CGAGTAGC others(314): Show CGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTT GTATTTTTAGTAGAAACAGGGTTTCGCCATTTTATCCAGGATGGTCTCGA TCTCCTGACCCCGTGATCCACCCGTCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACAGCGCCCAGCCTTAGAGGCAATATTTACTGATTTT TTTTTTTTTTTTTGTGAGATGGAGTCTCATTCTGTCCCCCAGGCTGGAGT GCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGC CATTCTCCTGCCTCAGCCTGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0079 a0001c0001t0012g0079	1	280	0.0036	-321	c.-36 others(11): Show c.-3643_-3323del	SUZ12	ENSG00000178691.11	transcript	ENST00000322652.10	protein_coding		3403		chr17	TogoVar
SUZ12_chr17_31932007_32006038	31933687	TCCAGGAT others(314): Show TCCAGGATGGTCTCGATCTCCTGACCCCGTGATCCACCCGTCTTGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCCAGCCTTAGAGGC AATATTTACTGATTTTTTTTTTTTTTTTTGTGAGATGGAGTCTCATTCTG TCCCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCG CCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGA CTACAGGCGCCCGCCACTACACCTGGCTAATTTTTTTGTATTTTTAGTAG AGACAGGGTTTCACTGTGTTAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	280	0.0036	-321	c.-35 others(11): Show c.-3559_-3239del	SUZ12	ENSG00000178691.11	transcript	ENST00000322652.10	protein_coding		3319		chr17	TogoVar
SYTL5_chrX_38001553_38133816	38115187	TAAGATAC others(314): Show TAAGATACTTATTTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGGTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp2 HG03139.hp1 others(5): Show HG02622.hp2 HG02723.hp2 HG03139.hp1 HG03209.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0002 a0001c0002t0002 a0001c0004t0002	a0001c0002t0002g0027 a0001c0002t0002g0237 a0001c0002t0002g0240 others(5): Show a0001c0002t0002g0027 a0001c0002t0002g0237 a0001c0002t0002g0240 a0001c0002t0002g0244 a0001c0004t0002g0007 a0001c0004t0002g0008 a0001c0004t0002g0049 a0001c0004t0002g0236	8	250	0.0320	-321	c.159 others(19): Show c.1596+4721_1597-4835del	SYTL5	ENSG00000147041.12	transcript	ENST00000297875.7	protein_coding	13/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
TIPIN_chr15_66331191_66361685	66341474	TAAGAATG others(314): Show TAAGAATGTTGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(402): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.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 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0001c0006 a0001c0008 others(5): Show a0001c0001 a0001c0006 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0007c0009 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0006t0001 a0001c0008t0002 a0002c0002t0001 a0003c0003t0001 a0004c0004t0005 a0007c0009t0001 a0008c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(289): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0031 a0001c0001t0002g0086 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0237 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0020 a0001c0001t0003g0046 a0001c0001t0003g0083 a0001c0001t0003g0142 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0219 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0004g0019 a0001c0001t0004g0257 a0001c0001t0004g0269 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0293 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0007g0032 a0001c0001t0008g0299 a0001c0001t0009g0300 a0001c0006t0001g0047 a0001c0006t0001g0048 a0001c0006t0001g0049 a0001c0008t0002g0033 a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0045 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0121 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0238 a0003c0003t0001g0004 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0082 a0004c0004t0005g0011 a0004c0004t0005g0055 a0004c0004t0005g0056 a0004c0004t0005g0057 a0004c0004t0005g0058 a0004c0004t0005g0059 a0007c0009t0001g0296 a0008c0010t0001g0096	405	416	0.9736	-321	c.476 others(15): Show c.476-439_476-119del	TIPIN	ENSG00000075131.10	transcript	ENST00000261881.9	protein_coding	6/7			chr15	TogoVar
TRPC4AP_chr20_34997404_35097807	35033861	AAAGGCCG others(314): Show AAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACA AGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGT GGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCA GTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAGAGT	A A	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	334	0.0030	-321	c.105 others(18): Show c.1051+941_1051+1261del	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding	8/18			chr20	TogoVar
ZNF28_chr19_52792408_52826633	52820095	ACTTATTT others(314): Show ACTTATTTAACCTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGTCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCTGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp2 others(77): Show HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00621.hp2 HG00639.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01243.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01884.hp1 HG01981.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02145.hp2 HG02148.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG03017.hp2 HG03041.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03831.hp2 HG04115.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18946.hp1 NA18952.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18975.hp1 NA18981.hp2 NA18991.hp2 NA18999.hp2 NA19010.hp2 NA19062.hp2 NA19082.hp1 NA19084.hp2 NA19240.hp1 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011 a0015	a0001c0001 a0001c0009 a0002c0002 others(9): Show a0001c0001 a0001c0009 a0002c0002 a0003c0003 a0004c0004 a0004c0012 a0004c0014 a0005c0005 a0009c0010 a0009c0011 a0011c0013 a0015c0018	a0001c0001t0002 a0001c0001t0038 a0001c0001t0039 others(23): Show a0001c0001t0002 a0001c0001t0038 a0001c0001t0039 a0001c0001t0050 a0001c0001t0051 a0001c0009t0021 a0001c0009t0048 a0002c0002t0005 a0003c0003t0005 a0004c0004t0003 a0004c0004t0007 a0004c0004t0010 a0004c0004t0019 a0004c0004t0045 a0004c0004t0046 a0004c0012t0041 a0004c0012t0049 a0004c0014t0003 a0005c0005t0020 a0005c0005t0043 a0005c0005t0044 a0009c0010t0016 a0009c0010t0037 a0009c0011t0017 a0011c0013t0031 a0015c0018t0036	a0001c0001t0002g0058 a0001c0001t0038g0324 a0001c0001t0039g0056 others(58): Show a0001c0001t0002g0058 a0001c0001t0038g0324 a0001c0001t0039g0056 a0001c0001t0050g0328 a0001c0001t0051g0365 a0001c0009t0021g0368 a0001c0009t0021g0369 a0001c0009t0048g0360 a0002c0002t0005g0329 a0002c0002t0005g0342 a0002c0002t0005g0348 a0002c0002t0005g0354 a0002c0002t0005g0355 a0002c0002t0005g0371 a0003c0003t0005g0027 a0003c0003t0005g0327 a0003c0003t0005g0331 a0003c0003t0005g0332 a0003c0003t0005g0333 a0003c0003t0005g0334 a0003c0003t0005g0340 a0004c0004t0003g0001 a0004c0004t0003g0004 a0004c0004t0003g0005 a0004c0004t0003g0028 a0004c0004t0003g0336 a0004c0004t0003g0337 a0004c0004t0003g0338 a0004c0004t0003g0339 a0004c0004t0003g0344 a0004c0004t0003g0345 a0004c0004t0003g0346 a0004c0004t0003g0347 a0004c0004t0003g0352 a0004c0004t0003g0356 a0004c0004t0003g0357 a0004c0004t0003g0358 a0004c0004t0003g0359 a0004c0004t0003g0362 a0004c0004t0003g0363 a0004c0004t0007g0059 a0004c0004t0010g0330 a0004c0004t0010g0353 a0004c0004t0010g0361 a0004c0004t0019g0010 a0004c0004t0045g0349 a0004c0004t0046g0350 a0004c0012t0041g0325 a0004c0012t0049g0370 a0004c0014t0003g0335 a0004c0014t0003g0351 a0005c0005t0020g0366 a0005c0005t0020g0367 a0005c0005t0043g0341 a0005c0005t0044g0343 a0009c0010t0016g0321 a0009c0010t0016g0322 a0009c0010t0037g0320 a0009c0011t0017g0026 a0011c0013t0031g0318 a0015c0018t0036g0323	80	422	0.1896	-321	c.-74 others(17): Show c.-74+1170_-74+1490del	ZNF28	ENSG00000198538.11	transcript	ENST00000457749.7	protein_coding	1/3			chr19	TogoVar
ZNF341_chr20_33726996_33797269	33747322	AACAGTCA others(314): Show AACAGTCATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGGACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01891.hp2 HG02559.hp1 others(20): Show HG01361.hp2 HG01891.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03195.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0014 a0001c0001 a0002c0003 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0002c0003t0002 a0005c0014t0001	a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0111 others(20): Show a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0111 a0001c0001t0002g0009 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0007g0081 a0002c0003t0002g0078 a0002c0003t0002g0087 a0005c0014t0001g0010	23	332	0.0693	-321	c.340 others(17): Show c.340-1589_340-1269del	ZNF341	ENSG00000131061.15	transcript	ENST00000375200.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSM3_chr16_20759014_20802581	20767219	CAAAAAAC others(313): Show CAAAAAACAGGGACCGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(198): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18940.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19086.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012	a0001c0001 a0001c0004 a0001c0008 others(12): Show a0001c0001 a0001c0004 a0001c0008 a0001c0012 a0001c0016 a0001c0017 a0002c0002 a0003c0003 a0004c0005 a0005c0006 a0006c0007 a0007c0009 a0009c0015 a0010c0013 a0012c0014	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0008t0001 a0001c0012t0001 a0001c0016t0001 a0001c0017t0001 a0002c0002t0001 a0002c0002t0003 a0003c0003t0001 a0004c0005t0001 a0005c0006t0001 a0006c0007t0001 a0007c0009t0001 a0009c0015t0001 a0010c0013t0001 a0012c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 others(116): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0004g0099 a0001c0004t0001g0005 a0001c0004t0001g0054 a0001c0004t0001g0058 a0001c0004t0001g0063 a0001c0008t0001g0031 a0001c0012t0001g0207 a0001c0016t0001g0067 a0001c0017t0001g0012 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0016 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0097 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0208 a0002c0002t0003g0116 a0003c0003t0001g0011 a0003c0003t0001g0024 a0003c0003t0001g0025 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0064 a0004c0005t0001g0048 a0004c0005t0001g0198 a0004c0005t0001g0202 a0005c0006t0001g0003 a0005c0006t0001g0115 a0006c0007t0001g0094 a0006c0007t0001g0095 a0007c0009t0001g0050 a0009c0015t0001g0001 a0010c0013t0001g0028 a0012c0014t0001g0003	201	356	0.5646	-320	c.-51 others(17): Show c.-51-2748_-51-2429del	ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ASRGL1_chr11_62332448_62398412	62383306	TAAGAACA others(313): Show TAAGAACATCATCAGGGGCCGGGCGCGGTGGCTCACGCATGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAACAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTACTCAAA AAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp2 HG02723.hp2 HG02970.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0034 a0002c0004t0035 a0002c0004t0034 a0002c0004t0035	a0002c0004t0034g0184 a0002c0004t0035g0183 a0002c0004t0034g0184 a0002c0004t0035g0183	2	370	0.0054	-320	c.492 others(17): Show c.492-5811_492-5492del	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
C2CD4C_chr19_400445_414147	404480	GGGGGCAC others(313): Show GGGGGCACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCC CTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGA CGGGGTCCTGCCCTGAGGGGTCTGAGGGGGAGACGGGTCCTGCCCTGAGG GGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTCTGAGGGGGGGACG GGTCCTGCCCCGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGG GTGTGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGG TCCTGCCCTGAGGGGTGTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA21309.hp2 NA19079.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	2	322	0.0062	-320	c.22 others(11): Show c.2296_*2615del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		964		chr19	TogoVar
C2CD4C_chr19_400445_414147	404512	GGGGGACG others(313): Show GGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCC TGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGAG ACGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAG GGGTCTGAGGGGGGGACGGGTCCTGCCCCGAGGGGTGTGGAGGGGGGAAC GGGGTCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTCCTGCCCTGAGGGG TGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGG GTCCTGCCCTGAGGGGTGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0080 a0001c0002t0080	a0001c0002t0080g0134 a0001c0002t0080g0134	1	322	0.0031	-320	c.22 others(11): Show c.2264_*2583del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		932		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13368736	TAAAAATG others(313): Show TAAAAATGTAATGTGGGTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCTCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01070.hp1 HG01109.hp2 others(29): Show HG00438.hp1 HG01070.hp1 HG01109.hp2 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG03139.hp1 HG03471.hp1 HG03540.hp2 NA18522.hp1 NA18955.hp1 NA18977.hp1 NA18979.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19084.hp2 NA21309.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0011 a0012 a0017 a0018 a0021 a0029 a0034 a0036 a0042	a0001c0001 a0001c0004 a0001c0005 others(23): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0018 a0001c0031 a0001c0037 a0001c0049 a0001c0072 a0001c0126 a0002c0002 a0002c0010 a0002c0085 a0003c0015 a0003c0054 a0003c0055 a0011c0103 a0012c0023 a0017c0040 a0017c0127 a0018c0017 a0021c0092 a0029c0063 a0034c0081 a0036c0052 a0042c0097	a0001c0001t0001 a0001c0001t0004 a0001c0004t0015 others(26): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0015 a0001c0005t0001 a0001c0005t0047 a0001c0006t0008 a0001c0018t0001 a0001c0031t0013 a0001c0031t0036 a0001c0037t0004 a0001c0049t0001 a0001c0072t0037 a0001c0126t0022 a0002c0002t0003 a0002c0010t0002 a0002c0085t0005 a0003c0015t0008 a0003c0054t0043 a0003c0055t0044 a0011c0103t0004 a0012c0023t0003 a0017c0040t0001 a0017c0127t0001 a0018c0017t0014 a0021c0092t0016 a0029c0063t0002 a0034c0081t0019 a0036c0052t0006 a0042c0097t0005	a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0004g0155 others(29): Show a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0004g0155 a0001c0004t0015g0140 a0001c0005t0001g0187 a0001c0005t0047g0024 a0001c0006t0008g0148 a0001c0006t0008g0217 a0001c0018t0001g0037 a0001c0018t0001g0056 a0001c0031t0013g0123 a0001c0031t0036g0215 a0001c0037t0004g0021 a0001c0049t0001g0012 a0001c0072t0037g0213 a0001c0126t0022g0006 a0002c0002t0003g0181 a0002c0010t0002g0054 a0002c0085t0005g0085 a0003c0015t0008g0036 a0003c0054t0043g0060 a0003c0055t0044g0071 a0011c0103t0004g0200 a0012c0023t0003g0180 a0017c0040t0001g0008 a0017c0127t0001g0007 a0018c0017t0014g0216 a0021c0092t0016g0203 a0029c0063t0002g0196 a0034c0081t0019g0152 a0036c0052t0006g0154 a0042c0097t0005g0059	32	218	0.1468	-320	c.631 others(17): Show c.631+2632_631+2951del	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	4/46			chr19	TogoVar
CDKAL1_chr6_20529457_21237404	20765135	TGGTTACA others(313): Show TGGTTACATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00544.hp1 others(121): Show HG00099.hp1 HG00140.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18978.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(12): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0002c0003 a0002c0007 a0003c0015 a0004c0016 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(67): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0001t0046 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0020 a0001c0002t0028 a0001c0002t0033 a0001c0002t0034 a0001c0002t0043 a0001c0002t0044 a0001c0002t0047 a0001c0004t0001 a0001c0004t0004 a0001c0004t0007 a0001c0004t0018 a0001c0004t0037 a0001c0005t0001 a0001c0005t0007 a0001c0005t0021 a0001c0006t0002 a0001c0006t0003 a0001c0006t0006 a0001c0006t0009 a0001c0008t0011 a0001c0009t0004 a0001c0010t0002 a0001c0010t0007 a0001c0010t0017 a0001c0011t0004 a0001c0012t0008 a0001c0012t0022 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0010 a0002c0003t0013 a0002c0003t0020 a0002c0007t0002 a0002c0007t0005 a0002c0007t0029 a0002c0007t0030 a0002c0007t0036 a0002c0007t0038 a0003c0015t0010 a0004c0016t0001 a0005c0014t0008	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0065 others(121): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0096 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0176 a0001c0001t0002g0042 a0001c0001t0002g0124 a0001c0001t0002g0139 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0003g0113 a0001c0001t0003g0149 a0001c0001t0003g0156 a0001c0001t0004g0002 a0001c0001t0004g0031 a0001c0001t0004g0097 a0001c0001t0006g0011 a0001c0001t0007g0043 a0001c0001t0007g0164 a0001c0001t0008g0054 a0001c0001t0008g0123 a0001c0001t0008g0159 a0001c0001t0009g0138 a0001c0001t0010g0035 a0001c0001t0010g0109 a0001c0001t0014g0072 a0001c0001t0018g0005 a0001c0001t0023g0115 a0001c0001t0023g0169 a0001c0001t0024g0152 a0001c0001t0024g0158 a0001c0001t0025g0060 a0001c0001t0026g0001 a0001c0001t0026g0058 a0001c0001t0027g0120 a0001c0001t0027g0180 a0001c0001t0031g0004 a0001c0001t0046g0077 a0001c0002t0001g0108 a0001c0002t0001g0148 a0001c0002t0001g0174 a0001c0002t0002g0041 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0090 a0001c0002t0003g0008 a0001c0002t0003g0020 a0001c0002t0003g0032 a0001c0002t0003g0055 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0114 a0001c0002t0003g0165 a0001c0002t0003g0184 a0001c0002t0005g0161 a0001c0002t0007g0154 a0001c0002t0007g0187 a0001c0002t0008g0040 a0001c0002t0012g0039 a0001c0002t0013g0034 a0001c0002t0013g0122 a0001c0002t0016g0045 a0001c0002t0020g0116 a0001c0002t0028g0103 a0001c0002t0033g0193 a0001c0002t0034g0182 a0001c0002t0043g0190 a0001c0002t0044g0038 a0001c0002t0047g0146 a0001c0004t0001g0099 a0001c0004t0004g0102 a0001c0004t0004g0133 a0001c0004t0007g0015 a0001c0004t0018g0017 a0001c0004t0037g0098 a0001c0005t0001g0009 a0001c0005t0007g0084 a0001c0005t0021g0026 a0001c0006t0002g0166 a0001c0006t0003g0030 a0001c0006t0006g0023 a0001c0006t0009g0078 a0001c0008t0011g0068 a0001c0008t0011g0069 a0001c0008t0011g0181 a0001c0009t0004g0019 a0001c0009t0004g0027 a0001c0009t0004g0028 a0001c0010t0002g0106 a0001c0010t0007g0044 a0001c0010t0017g0194 a0001c0011t0004g0100 a0001c0012t0008g0129 a0001c0012t0022g0135 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0079 a0002c0003t0002g0144 a0002c0003t0002g0157 a0002c0003t0003g0107 a0002c0003t0004g0132 a0002c0003t0005g0036 a0002c0003t0005g0053 a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0003t0005g0121 a0002c0003t0010g0134 a0002c0003t0013g0037 a0002c0003t0020g0075 a0002c0007t0002g0048 a0002c0007t0005g0061 a0002c0007t0005g0062 a0002c0007t0029g0014 a0002c0007t0030g0025 a0002c0007t0036g0024 a0002c0007t0038g0173 a0003c0015t0010g0171 a0004c0016t0001g0185 a0005c0014t0008g0119	124	196	0.6327	-320	c.517 others(17): Show c.517+6505_517+6824del	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
COG4_chr16_70475571_70528554	70519106	TAGGATTT others(313): Show TAGGATTTGCATTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTTGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCATTGC AAGCTCCGCTTCCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(212): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.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 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0013 a0001c0014 a0003c0016 a0004c0015 a0006c0010 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0013t0001 a0001c0014t0001 a0003c0016t0001 a0004c0015t0001 a0006c0010t0004 a0007c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0040 others(210): Show a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0002g0099 a0001c0001t0002g0116 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0003g0069 a0001c0001t0003g0075 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0102 a0001c0001t0003g0110 a0001c0001t0003g0118 a0001c0001t0003g0280 a0001c0001t0003g0284 a0001c0001t0003g0322 a0001c0002t0001g0033 a0001c0002t0001g0072 a0001c0002t0001g0125 a0001c0002t0001g0134 a0001c0002t0001g0137 a0001c0002t0001g0334 a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0020 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0004g0123 a0001c0002t0004g0124 a0001c0002t0004g0126 a0001c0002t0004g0128 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0032 a0001c0003t0001g0056 a0001c0003t0001g0067 a0001c0003t0001g0086 a0001c0003t0001g0115 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0004g0127 a0001c0003t0004g0347 a0001c0003t0004g0348 a0001c0003t0005g0129 a0001c0005t0001g0180 a0001c0005t0001g0247 a0001c0005t0001g0254 a0001c0005t0001g0286 a0001c0005t0001g0287 a0001c0005t0001g0323 a0001c0005t0001g0328 a0001c0007t0001g0174 a0001c0007t0001g0258 a0001c0008t0001g0345 a0001c0008t0001g0346 a0001c0009t0001g0249 a0001c0009t0001g0252 a0001c0013t0001g0097 a0001c0014t0001g0182 a0003c0016t0001g0349 a0004c0015t0001g0331 a0006c0010t0004g0344 a0007c0012t0001g0238	215	354	0.6073	-320	c.254 others(15): Show c.254+223_254+542del	COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding	2/18			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587722	CCGTGTCA others(313): Show CCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCAC AGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCGTGTTACCCACAGATACACGG CCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACAC GGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATA CACGGCCCCCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0276 a0001c0025t0001g0276	1	348	0.0029	-320	c.927 others(15): Show c.927+648_928-606del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRTAC1_chr10_97860000_98035621	97900509	CGTAGCCC others(313): Show CGTAGCCCCTTTTCCTGGTAGTGATTGGACCCCATAGCCTCTTTTCCTGG TAGTGATTGGAGCCCGTAGCCCCTTTTCCTGGTAGTGATTGGACCCCGTA GCCCCTTTTCCTGGTAGTGATTGGAGCCCGTAGCCCCTTTCTGTGGTAGT GATTGGACCCTGTAGCCCCTTTTCCTGGTAGTGATTGGACCCTGTAGCCC CTTTTCCTGGTAGTGATTGGACCCCGTAGCCCCTTTTCCTGGTAGTGATT GGAGCCCGTAGCCCCTTTTCCTGGTAGTGATTGGACCCCGTAGCCCCTTT TCCTGGTAGTGATTGGACCCT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02300.hp2 HG01074.hp1 HG02300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0050 a0002c0005t0001g0090 a0001c0002t0001g0050 a0002c0005t0001g0090	2	204	0.0098	-320	c.113 others(17): Show c.1133+674_1133+993del	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	8/14			chr10	TogoVar
CTHRC1_chr8_103366538_103387989	103370671	TAAAAAAT others(313): Show TAAAAAATTAGCCGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(398): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(2): Show a0000 a0001 a0002 a0003 a0004	a0000c0004 a0001c0001 a0001c0002 others(3): Show a0000c0004 a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0004c0006	a0000c0004t0004 a0001c0001t0001 a0001c0001t0002 others(7): Show a0000c0004t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0002c0003t0001 a0003c0005t0001 a0004c0006t0001	a0000c0004t0004g0070 a0001c0001t0001g0001 a0001c0001t0001g0004 others(75): Show a0000c0004t0004g0070 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0002g0001 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0044 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0003g0040 a0001c0002t0003g0072 a0002c0003t0001g0008 a0003c0005t0001g0045 a0004c0006t0001g0001	401	408	0.9828	-320	c.-98 others(9): Show c.-985_-666del	CTHRC1	ENSG00000164932.13	transcript	ENST00000330295.10	protein_coding		866		chr8	TogoVar
CYP4F11_chr19_15907377_15939529	15931525	CAGAGGAA others(313): Show CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGG	C C	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0248 a0001c0002t0003g0248	1	386	0.0026	-320	c.199 others(17): Show c.199-2244_199-1925del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931749	GGAATGAG others(313): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0041 a0001c0008t0041	a0001c0008t0041g0372 a0001c0008t0041g0372	1	386	0.0026	-320	c.198 others(17): Show c.198+2142_199-2149del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932021	TGAGGAGA others(313): Show TGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0126 a0003c0003t0126	a0003c0003t0126g0088 a0003c0003t0126g0088	1	386	0.0026	-320	c.198 others(17): Show c.198+1870_198+2189del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932143	AGGAGAAG others(313): Show AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGCGG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0259 a0001c0002t0049g0259	1	386	0.0026	-320	c.198 others(17): Show c.198+1748_198+2067del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932263	GGGAGAGG others(313): Show GGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	386	0.0026	-320	c.198 others(17): Show c.198+1628_198+1947del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932269	GGAATGAG others(313): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGA GGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAG	G G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0303 a0001c0002t0001g0303	1	386	0.0026	-320	c.198 others(17): Show c.198+1622_198+1941del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933465	GAGAAGAA others(313): Show GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0158 a0002c0001t0158	a0002c0001t0158g0343 a0002c0001t0158g0343	1	386	0.0026	-320	c.198 others(15): Show c.198+426_198+745del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DACH2_chrX_86143451_86837602	86623757	TAAAAAGT others(313): Show TAAAAAGTGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGG GCATGGTGGCGCGTGCCTGTAGTCCCAGCTACACAGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAACA AAACAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03017.hp1 HG03139.hp1 others(7): Show HG02080.hp1 HG03017.hp1 HG03139.hp1 HG03486.hp2 NA18906.hp1 NA18939.hp2 NA18965.hp1 NA18990.hp1 NA18995.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0072 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0072 a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0001g0143 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0002g0019	10	166	0.0602	-320	c.641 others(19): Show c.641-27268_641-26949del	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DLC1_chr8_13078361_13519851	13312063	TAAAAATA others(313): Show TAAAAATAATTTCTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00735.hp1 others(16): Show HG00140.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG01243.hp1 HG01928.hp2 HG01981.hp1 HG02109.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02615.hp1 HG02647.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 NA18963.hp2 NA19070.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0017	a0001c0001 a0001c0004 a0001c0011 others(6): Show a0001c0001 a0001c0004 a0001c0011 a0002c0002 a0002c0020 a0003c0003 a0003c0029 a0006c0007 a0017c0036	a0001c0001t0009 a0001c0001t0042 a0001c0004t0003 others(10): Show a0001c0001t0009 a0001c0001t0042 a0001c0004t0003 a0001c0011t0003 a0002c0002t0002 a0002c0002t0041 a0002c0020t0002 a0003c0003t0004 a0003c0029t0052 a0006c0007t0001 a0006c0007t0005 a0006c0007t0017 a0017c0036t0001	a0001c0001t0009g0106 a0001c0001t0042g0042 a0001c0004t0003g0132 others(16): Show a0001c0001t0009g0106 a0001c0001t0042g0042 a0001c0004t0003g0132 a0001c0011t0003g0049 a0002c0002t0002g0058 a0002c0002t0002g0060 a0002c0002t0002g0091 a0002c0002t0002g0123 a0002c0002t0002g0126 a0002c0002t0041g0040 a0002c0020t0002g0046 a0002c0020t0002g0057 a0003c0003t0004g0140 a0003c0029t0052g0211 a0006c0007t0001g0163 a0006c0007t0001g0164 a0006c0007t0005g0158 a0006c0007t0017g0028 a0017c0036t0001g0044	19	212	0.0896	-320	c.131 others(19): Show c.1315-7081_1315-6762del	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	4/17			chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216320	TATGTATA others(313): Show TATGTATACAATATGTGCATACAATATGTATATATGTATACAATATGTGC ATACAATATGTATATATGTATACAATATGTGCATACAATATGTATATATG TATACAATATGTGCATACAATATGTATATATGTATACAATATGTGCATAC AATATGTATATATGTATACAATATGTGCATACAATATGTATATATGTATA CAATATGTGCATACAATATGTATATATGTATACAATATGTGCATACAATA TGTATAGATGTATACAATATGTGCATACAATATGTATAGATGTATACAAT ATGTGCATACAATATGTATAG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0057 a0001c0005t0057	a0001c0005t0057g0011 a0001c0005t0057g0011	1	210	0.0048	-320	c.44- others(17): Show c.44-27337_44-27018del	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137565752	TCTGTCTG others(313): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp2 others(17): Show HG00140.hp1 HG00140.hp2 HG00423.hp2 HG01123.hp1 HG02135.hp2 HG03704.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18974.hp1 NA18975.hp1 NA18982.hp1 NA19004.hp2 NA19010.hp1 NA19079.hp2 NA19080.hp1 NA19087.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0010 a0001c0001t0001g0040 a0001c0001t0001g0062 others(15): Show a0001c0001t0001g0010 a0001c0001t0001g0040 a0001c0001t0001g0062 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0153 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0230 a0001c0001t0002g0303 a0001c0005t0001g0011	20	340	0.0588	-320	c.641 others(15): Show c.641-918_641-599del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)