Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
CSTF3_chr11_33079584_33166480	33163895	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	360	0.0028	-37	c.-26 others(48): Show c.-2607_-2571delAAAAAAATATATATATATATATATATATATATAT ATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2416		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163899	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0132	1	360	0.0028	-37	c.-26 others(48): Show c.-2611_-2575delAAAAAAAAAAATATATATATATATATATATATAT ATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2420		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163901	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02818.hp1 HG02895.hp2 others(5): Show HG02040.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG04184.hp2 HG04204.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0115 a0001c0001t0003g0120 others(5): Show a0001c0001t0003g0001 a0001c0001t0003g0115 a0001c0001t0003g0120 a0001c0001t0003g0125 a0001c0001t0003g0139 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158	8	360	0.0222	-37	c.-26 others(48): Show c.-2613_-2577delAAAAAAAAAAAAATATATATATATATATATATAT ATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2422		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163903	ATATATAT others(30): Show ATATATATATATATATATATATATTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01099.hp1 HG01175.hp2 others(4): Show HG00741.hp2 HG01099.hp1 HG01175.hp2 HG01256.hp2 HG01515.hp1 HG01517.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0145 a0001c0001t0003g0180 others(3): Show a0001c0001t0003g0017 a0001c0001t0003g0145 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0188	7	360	0.0194	-37	c.-26 others(48): Show c.-2615_-2579delAAAAAAAAAAAAAAATATATATATATATATATAT ATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2424		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163905	ATATATAT others(30): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	360	0.0028	-37	c.-26 others(48): Show c.-2617_-2581delAAAAAAAAAAAAAAAAATATATATATATATATAT ATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2426		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163907	ATATATAT others(30): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	360	0.0028	-37	c.-26 others(48): Show c.-2619_-2583delAAAAAAAAAAAAAAAAAAATATATATATATATAT ATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2428		chr11	TogoVar
CTAGE15_chr7_143566801_143579387	143568347	TCCTGTTA others(30): Show TCCTGTTATAGAAAGAAGGCAAAACCATTTCAGGAAAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02976.hp1 HG04184.hp2 HG01106.hp2 HG02976.hp1 HG04184.hp2	a0005 a0015 a0005 a0015	a0005c0004 a0015c0017 a0005c0004 a0015c0017	a0005c0004t0001 a0015c0017t0001 a0005c0004t0001 a0015c0017t0001	a0005c0004t0001g0000 a0015c0017t0001g0000 a0005c0004t0001g0000 a0015c0017t0001g0000	3	220	0.0136	-37	c.-34 others(48): Show c.-3470_-3434delCCTGTTATAGAAAGAAGGCAAAACCATTTCAGGA AAC	CTAGE15	ENSG00000271079.1	transcript	ENST00000420911.2	protein_coding		3453		chr7	TogoVar
CTAGE6_chr7_143750089_143762696	143761034	CTCTTTCT others(30): Show CTCTTTCTATAACAGGGTTTCCTGAAATGGTTTTGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	190	0.0053	-37	c.-34 others(48): Show c.-3413_-3377delAGGCAAAACCATTTCAGGAAACCCTGTTATAGAA AGA	CTAGE6	ENSG00000271321.1	transcript	ENST00000470691.2	protein_coding		3339		chr7	TogoVar
CTBP2_chr10_124979317_125033071	125022477	GGGGTACA others(30): Show GGGGTACAGGTCAATGAGGAAGGAAGGAAGGAACAGCA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp2 HG01169.hp2 others(22): Show HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG03098.hp1 HG03130.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp2 NA19030.hp1 NA19240.hp1 NA20129.hp2	a0003 a0006 a0007 others(4): Show a0003 a0006 a0007 a0008 a0011 a0013 a0022	a0003c0004 a0006c0007 a0006c0011 others(8): Show a0003c0004 a0006c0007 a0006c0011 a0007c0013 a0007c0038 a0007c0039 a0008c0012 a0008c0037 a0011c0018 a0013c0048 a0022c0042	a0003c0004t0110 a0006c0007t0014 a0006c0007t0021 others(17): Show a0003c0004t0110 a0006c0007t0014 a0006c0007t0021 a0006c0007t0030 a0006c0007t0031 a0006c0007t0102 a0006c0007t0119 a0006c0011t0021 a0007c0013t0014 a0007c0013t0029 a0007c0013t0104 a0007c0013t0111 a0007c0038t0014 a0007c0039t0029 a0008c0012t0045 a0008c0012t0088 a0008c0037t0006 a0011c0018t0048 a0013c0048t0007 a0022c0042t0014	a0003c0004t0110g0247 a0006c0007t0014g0005 a0006c0007t0021g0306 others(19): Show a0003c0004t0110g0247 a0006c0007t0014g0005 a0006c0007t0021g0306 a0006c0007t0030g0303 a0006c0007t0030g0304 a0006c0007t0031g0300 a0006c0007t0102g0305 a0006c0007t0119g0302 a0006c0011t0021g0015 a0006c0011t0021g0155 a0007c0013t0014g0316 a0007c0013t0029g0318 a0007c0013t0104g0317 a0007c0013t0111g0319 a0007c0038t0014g0312 a0007c0039t0029g0313 a0008c0012t0045g0311 a0008c0012t0088g0309 a0008c0037t0006g0310 a0011c0018t0048g0307 a0013c0048t0007g0348 a0022c0042t0014g0320	25	380	0.0658	-37	c.167 others(56): Show c.1678+3568_1678+3604delTGCTGTTCCTTCCTTCCTTCCTCATT GACCTGTACCC	CTBP2	ENSG00000175029.17	transcript	ENST00000309035.11	protein_coding	1/8			chr10	TogoVar
CTDP1_chr18_79674803_79759503	79691812	AGAGTGGA others(30): Show AGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp1 HG02922.hp2 HG03516.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0003 a0001c0017t0003	a0001c0017t0003g0014 a0001c0017t0003g0015 a0001c0017t0003g0014 a0001c0017t0003g0015	2	378	0.0053	-37	c.315 others(54): Show c.315-3377_315-3341delAGGAGTGGACGGCTCCCAGGGTGGACTC GGGGTGGGG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79691995	GGGGGAGG others(30): Show GGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02615.hp1 HG02723.hp2 HG01106.hp1 HG02615.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0007 a0001c0021t0007 a0001c0001t0007 a0001c0021t0007	a0001c0001t0007g0342 a0001c0001t0007g0343 a0001c0021t0007g0341 a0001c0001t0007g0342 a0001c0001t0007g0343 a0001c0021t0007g0341	3	378	0.0079	-37	c.315 others(54): Show c.315-3152_315-3116delGAGGAGTGGACGGCTCCCAGGGTGGACT CGGGGTGGG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79692113	AGAGTGGA others(30): Show AGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0097 a0001c0001t0008g0097	1	378	0.0027	-37	c.315 others(54): Show c.315-3085_315-3049delGGGGTGGGGAGGAGTGGACGGCTCCCAG GGTGGACTC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79732396	CGAGACAT others(30): Show CGAGACATGAGAACTCAGGAGTGCTCCCAAAATCACGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(188): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0008 a0009 a0012 a0013 a0014 a0015 a0017	a0001c0001 a0001c0003 a0001c0008 others(18): Show a0001c0001 a0001c0003 a0001c0008 a0001c0016 a0001c0017 a0001c0020 a0001c0029 a0001c0035 a0002c0002 a0003c0005 a0003c0009 a0003c0012 a0003c0023 a0004c0004 a0008c0025 a0009c0026 a0012c0033 a0013c0027 a0014c0034 a0015c0031 a0017c0040	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(22): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0003t0001 a0001c0003t0002 a0001c0003t0010 a0001c0008t0001 a0001c0016t0001 a0001c0017t0003 a0001c0020t0001 a0001c0029t0001 a0001c0035t0002 a0002c0002t0001 a0003c0005t0002 a0003c0009t0002 a0003c0012t0002 a0003c0023t0003 a0004c0004t0001 a0008c0025t0001 a0009c0026t0001 a0012c0033t0002 a0013c0027t0001 a0014c0034t0002 a0015c0031t0004 a0017c0040t0001	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0016 others(186): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0206 a0001c0001t0002g0339 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0150 a0001c0001t0004g0164 a0001c0001t0004g0184 a0001c0001t0008g0097 a0001c0001t0008g0098 a0001c0001t0008g0101 a0001c0003t0001g0003 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0340 a0001c0003t0001g0372 a0001c0003t0001g0373 a0001c0003t0001g0374 a0001c0003t0002g0100 a0001c0003t0010g0044 a0001c0008t0001g0010 a0001c0008t0001g0198 a0001c0008t0001g0199 a0001c0008t0001g0200 a0001c0008t0001g0201 a0001c0008t0001g0203 a0001c0008t0001g0204 a0001c0008t0001g0205 a0001c0016t0001g0057 a0001c0016t0001g0058 a0001c0017t0003g0014 a0001c0017t0003g0015 a0001c0020t0001g0349 a0001c0029t0001g0029 a0001c0035t0002g0002 a0002c0002t0001g0090 a0003c0005t0002g0005 a0003c0005t0002g0006 a0003c0005t0002g0007 a0003c0005t0002g0008 a0003c0005t0002g0099 a0003c0005t0002g0102 a0003c0005t0002g0103 a0003c0005t0002g0104 a0003c0005t0002g0110 a0003c0005t0002g0111 a0003c0005t0002g0112 a0003c0005t0002g0113 a0003c0005t0002g0114 a0003c0005t0002g0118 a0003c0005t0002g0119 a0003c0005t0002g0120 a0003c0005t0002g0121 a0003c0005t0002g0123 a0003c0005t0002g0125 a0003c0005t0002g0126 a0003c0005t0002g0127 a0003c0005t0002g0128 a0003c0005t0002g0129 a0003c0005t0002g0130 a0003c0005t0002g0133 a0003c0005t0002g0134 a0003c0009t0002g0108 a0003c0009t0002g0109 a0003c0009t0002g0115 a0003c0009t0002g0116 a0003c0009t0002g0117 a0003c0009t0002g0124 a0003c0012t0002g0105 a0003c0012t0002g0106 a0003c0012t0002g0107 a0003c0023t0003g0361 a0004c0004t0001g0320 a0008c0025t0001g0065 a0009c0026t0001g0060 a0012c0033t0002g0146 a0013c0027t0001g0037 a0014c0034t0002g0122 a0015c0031t0004g0196 a0017c0040t0001g0256	191	378	0.5053	-37	c.258 others(56): Show c.2580+3344_2580+3380delGGAGTGCTCCCAAAATCACGTGAGAC ATGAGAACTCA	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79751028	CGAGGGCA others(30): Show CGAGGGCAGGTCAGGGAGGGAGGGAGGCTGGGCACACA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03486.hp1 HG02895.hp2 HG02897.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0372 a0001c0003t0001g0373 a0001c0003t0001g0374 a0001c0003t0001g0372 a0001c0003t0001g0373 a0001c0003t0001g0374	3	378	0.0079	-37	c.274 others(56): Show c.2748-2577_2748-2541delTCAGGGAGGGAGGGAGGCTGGGCACA CAGAGGGCAGG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNS_chr17_3631760_3668103	3656355	GCCCCTCC others(30): Show GCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGC	G G	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0067 a0001c0001t0005g0067	1	372	0.0027	-37	c.462 others(51): Show c.462-128_462-92delCTCCACCCCCGCCAGTCCTCACCCTCTGCCC TGCCCC	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTPS2_chrX_16582999_16717669	16673357	GAAAAACT others(30): Show GAAAAACTAGATAAGGGTTCCCTCTCATCTTGTTTCAT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp1 NA19006.hp1 others(1): Show HG00639.hp1 HG01099.hp1 NA19006.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0001g0080 a0001c0001t0001g0082 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0002g0041	4	226	0.0177	-37	c.109 others(56): Show c.1095-2720_1095-2684delATGAAACAAGATGAGAGGGAACCCTT ATCTAGTTTTT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	10/18			chrX	TogoVar
CTSS_chr1_150725188_150770778	150744361	TATTATAT others(30): Show TATTATATATTATATGTATATTATGTATACATAATATA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02293.hp1 NA18989.hp2 HG01167.hp1 HG02293.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0184 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0184	3	344	0.0087	-37	c.896 others(54): Show c.896+3379_896+3415delTATATTATGTATACATAATATACATATA ATATATAAT	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CYBC1_chr17_82437586_82455752	82453921	GGGCAGAG others(30): Show GGGCAGAGGCGCTCCTCACATCCCAGACGGGGCAGCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	416	0.0024	-37	c.-32 others(48): Show c.-3297_-3261delTGGCTGCCCCGTCTGGGATGTGAGGAGCGCCTCT GCC	CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding		3170		chr17	TogoVar
CYP1A1_chr15_74714542_74730528	74714818	TGTCCTTG others(30): Show TGTCCTTGACACATACTATCCCAGCAGCAGAACTAGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	434	0.0023	-37	c.56 others(48): Show c.5634_*5670delTTCTAGTTCTGCTGCTGGGATAGTATGTGTCAAG GAC	CYP1A1	ENSG00000140465.15	transcript	ENST00000379727.8	protein_coding		4723		chr15	TogoVar
CYP21A2_chr6_32033415_32046644	32037136	ACCCGGCC others(30): Show ACCCGGCCACTCCTCTTTGGCATGGCCTCTTCCCAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0002 a0001c0051t0002	a0001c0051t0002g0048 a0001c0051t0002g0048	1	459	0.0022	-37	c.-12 others(48): Show c.-1286_-1250delCCCGGCCACTCCTCTTTGGCATGGCCTCTTCCCA AAT	CYP21A2	ENSG00000231852.9	transcript	ENST00000644719.2	protein_coding		1278		chr6	TogoVar
CYSLTR1_chrX_78266468_78332611	78269099	TATATATA others(30): Show TATATATAATATATTATATATTATATATAATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02809.hp2 HG03041.hp1 HG02622.hp1 HG02809.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0011 a0001c0001t0004g0009 a0001c0001t0002g0011 a0001c0001t0004g0009	3	240	0.0125	-37	c.35 others(48): Show c.3597_*3633delTATATATATTATATATAATATATAATATATTATA TAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2368		chrX	TogoVar
CYTH2_chr19_48464369_48487314	48482907	ACCCCCAT others(30): Show ACCCCCATCCCCTCCTCCCTCAGACCCAGGAGTCCAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	366	0.0027	-37	c.36 others(48): Show c.3698_*3734delCCCCCATCCCCTCCTCCCTCAGACCCAGGAGTCC AGG	CYTH2	ENSG00000105443.17	transcript	ENST00000452733.7	protein_coding		594		chr19	TogoVar
CYTH2_chr19_48464369_48487314	48483018	ACCCCCAT others(30): Show ACCCCCATCCCCTCCTCCCTCAGACCCGGGAGTCCAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02970.hp2 NA18522.hp1 HG02055.hp2 HG02970.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	3	366	0.0082	-37	c.38 others(48): Show c.3809_*3845delCCCCCATCCCCTCCTCCCTCAGACCCGGGAGTCC AGG	CYTH2	ENSG00000105443.17	transcript	ENST00000452733.7	protein_coding		705		chr19	TogoVar
CYTH2_chr19_48464369_48487314	48483099	TCCCCTCC others(30): Show TCCCCTCCTCCCTCAGACCCGGGAGTCCAGGCCCCCAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG01074.hp2 others(13): Show HG00621.hp1 HG00639.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01433.hp2 HG02559.hp1 HG02809.hp2 HG02818.hp2 HG03579.hp2 HG04115.hp2 NA18956.hp2 NA18970.hp2 NA18981.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0028 a0001c0003t0037	a0001c0001t0002g0002 a0001c0001t0003g0001 a0001c0001t0003g0075 others(6): Show a0001c0001t0002g0002 a0001c0001t0003g0001 a0001c0001t0003g0075 a0001c0001t0006g0006 a0001c0001t0016g0032 a0001c0001t0016g0034 a0001c0001t0016g0043 a0001c0001t0028g0035 a0001c0003t0037g0002	16	366	0.0437	-37	c.38 others(48): Show c.3890_*3926delCCCCTCCTCCCTCAGACCCGGGAGTCCAGGCCCC CAG	CYTH2	ENSG00000105443.17	transcript	ENST00000452733.7	protein_coding		786		chr19	TogoVar
CYTH3_chr7_6156779_6277624	6223181	TGCCCGGC others(30): Show TGCCCGGCCGCCCCATCTGGGAGGTGAGGAGCGCCTCG	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0226 a0001c0001t0036g0226	1	348	0.0029	-37	c.35- others(54): Show c.35-32687_35-32651delCGAGGCGCTCCTCACCTCCCAGATGGGG CGGCCGGGC	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
D2HGDH_chr2_241729630_241773811	241751878	AGGCCTGG others(30): Show AGGCCTGGGCAGGGGGAGCCCTCGGTCACCGTCACCGG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01071.hp1 others(19): Show HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01109.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02486.hp1 HG02886.hp1 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG04199.hp1 HG04199.hp2 NA18977.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0021	a0001c0001 a0002c0002 a0002c0009 others(4): Show a0001c0001 a0002c0002 a0002c0009 a0002c0032 a0005c0004 a0007c0007 a0021c0033	a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 others(10): Show a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0025 a0002c0002t0034 a0002c0009t0008 a0002c0032t0015 a0005c0004t0003 a0007c0007t0001 a0007c0007t0007 a0021c0033t0008	a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0284 others(18): Show a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0284 a0002c0002t0002g0095 a0002c0002t0003g0081 a0002c0002t0007g0012 a0002c0002t0007g0137 a0002c0002t0007g0138 a0002c0002t0007g0139 a0002c0002t0008g0382 a0002c0002t0025g0171 a0002c0002t0034g0264 a0002c0009t0008g0094 a0002c0009t0008g0133 a0002c0009t0008g0134 a0002c0032t0015g0076 a0005c0004t0003g0211 a0007c0007t0001g0360 a0007c0007t0007g0339 a0007c0007t0007g0348 a0021c0033t0008g0323	22	412	0.0534	-37	c.114 others(54): Show c.1140+572_1140+608delGCAGGGGGAGCCCTCGGTCACCGTCACC GGGGCCTGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241751961	CAGGGGGA others(30): Show CAGGGGGAGCCCTCGGTCACCGTCACCGGGGCCTGGAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp2 HG01109.hp1 others(32): Show HG00642.hp1 HG01099.hp2 HG01109.hp1 HG01243.hp1 HG01358.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04228.hp2 NA19030.hp2 NA19240.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0012 a0001c0029 others(4): Show a0001c0001 a0001c0012 a0001c0029 a0002c0002 a0002c0009 a0005c0004 a0005c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0031 a0001c0001t0042 a0001c0012t0008 a0001c0012t0030 a0001c0029t0002 a0002c0002t0013 a0002c0009t0008 a0005c0004t0001 a0005c0004t0005 a0005c0004t0023 a0005c0018t0008	a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0169 others(30): Show a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0169 a0001c0001t0002g0030 a0001c0001t0002g0080 a0001c0001t0005g0006 a0001c0001t0007g0159 a0001c0001t0007g0214 a0001c0001t0007g0215 a0001c0001t0012g0295 a0001c0001t0016g0181 a0001c0001t0016g0184 a0001c0001t0020g0084 a0001c0001t0020g0085 a0001c0001t0022g0068 a0001c0001t0022g0072 a0001c0001t0025g0028 a0001c0001t0031g0164 a0001c0001t0042g0185 a0001c0012t0008g0031 a0001c0012t0030g0165 a0001c0012t0030g0314 a0001c0029t0002g0158 a0002c0002t0013g0152 a0002c0009t0008g0099 a0002c0009t0008g0136 a0002c0009t0008g0153 a0005c0004t0001g0315 a0005c0004t0005g0024 a0005c0004t0005g0326 a0005c0004t0023g0380 a0005c0004t0023g0381 a0005c0018t0008g0327	35	412	0.0850	-37	c.114 others(54): Show c.1140+576_1140+612delGGGGAGCCCTCGGTCACCGTCACCGGGG CCTGGATAG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241751964	GGGGAGCC others(30): Show GGGGAGCCCTCGGTCACCGTCACCGGGGCCTGGATAGT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02083.hp2 NA18939.hp1 others(14): Show HG00408.hp2 HG02083.hp2 NA18939.hp1 NA18942.hp1 NA18948.hp1 NA18953.hp1 NA18962.hp1 NA18983.hp1 NA18993.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19007.hp1 NA19085.hp1 NA19085.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0006c0006t0001 a0006c0006t0002	a0001c0001t0003g0235 a0001c0001t0004g0157 a0001c0001t0006g0236 others(14): Show a0001c0001t0003g0235 a0001c0001t0004g0157 a0001c0001t0006g0236 a0001c0001t0006g0241 a0001c0001t0009g0237 a0001c0001t0009g0238 a0001c0001t0009g0239 a0001c0001t0009g0240 a0001c0001t0009g0289 a0006c0006t0001g0300 a0006c0006t0001g0302 a0006c0006t0001g0303 a0006c0006t0001g0305 a0006c0006t0002g0296 a0006c0006t0002g0297 a0006c0006t0002g0298 a0006c0006t0002g0299	17	412	0.0413	-37	c.114 others(54): Show c.1140+584_1140+620delCTCGGTCACCGTCACCGGGGCCTGGATA GTGGGAGCC	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DBH_chr9_133631363_133664329	133651338	TGAACCTG others(30): Show TGAACCTGTCAGGCTTCAGGGGCTCAGGAGAGGATGAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02135.hp2 NA18983.hp1 others(1): Show HG00621.hp1 HG02135.hp2 NA18983.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0023 a0001c0001t0001g0229 a0001c0001t0001g0230	4	402	0.0100	-37	c.119 others(54): Show c.1192-294_1192-258delAACCTGTCAGGCTTCAGGGGCTCAGGAG AGGATGAAG	DBH	ENSG00000123454.12	transcript	ENST00000393056.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCLK1_chr13_35763652_36136382	35872712	TTTGTTCT others(30): Show TTTGTTCTTTCCCCTTCAATATCACTACCTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp1 HG02280.hp1 others(3): Show HG01099.hp1 HG01891.hp1 HG02280.hp1 HG02280.hp2 HG02723.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0021 a0001c0001t0038 a0001c0002t0006 others(3): Show a0001c0001t0021 a0001c0001t0038 a0001c0002t0006 a0001c0002t0017 a0001c0004t0001 a0001c0004t0011	a0001c0001t0021g0119 a0001c0001t0038g0044 a0001c0002t0006g0085 others(3): Show a0001c0001t0021g0119 a0001c0001t0038g0044 a0001c0002t0006g0085 a0001c0002t0017g0086 a0001c0004t0001g0078 a0001c0004t0011g0172	6	230	0.0261	-37	c.824 others(54): Show c.824-1409_824-1373delTATCACAAAGGTAGTGATATTGAAGGGG AAAGAACAA	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	4/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	36074468	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	230	0.0044	-37	c.723 others(56): Show c.723+37364_723+37400delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCT_chr13_94431811_94484682	94472536	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG01943.hp1 others(19): Show HG00438.hp1 HG00544.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG02004.hp2 HG02080.hp2 HG02165.hp1 HG02300.hp2 HG02523.hp1 HG03927.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18962.hp1 NA18980.hp1 NA19057.hp1 NA19060.hp1 NA19067.hp2 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0036 a0001c0001t0001 a0001c0001t0002 a0001c0001t0036	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(18): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0263 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0002g0005 a0001c0001t0002g0109 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0036g0328	22	336	0.0655	-37	c.296 others(54): Show c.296-3528_296-3492delAAAAATATATATATATATATATATATAT ATATATATA	DCT	ENSG00000080166.16	transcript	ENST00000377028.10	protein_coding	1/7			chr13	TogoVar
DCT_chr13_94431811_94484682	94472538	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	336	0.0030	-37	c.296 others(54): Show c.296-3530_296-3494delAAAAAAATATATATATATATATATATAT ATATATATA	DCT	ENSG00000080166.16	transcript	ENST00000377028.10	protein_coding	1/7			chr13	TogoVar
DCT_chr13_94431811_94484682	94472542	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0143 a0001c0001t0008g0143	1	336	0.0030	-37	c.296 others(54): Show c.296-3534_296-3498delAAAAAAAAAAATATATATATATATATAT ATATATATA	DCT	ENSG00000080166.16	transcript	ENST00000377028.10	protein_coding	1/7			chr13	TogoVar
DDX51_chr12_132131594_132149319	132134953	CGCTACCT others(30): Show CGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	-37	c.42 others(48): Show c.4282_*4318delTGGGCACCGTGGGCACACTCGGGAGGTGGGAGGT AGC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1640		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135353	TCCCGAGT others(30): Show TCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	-37	c.38 others(48): Show c.3882_*3918delGAGGTGGGAGGTAGCGGGCACCGTGGGCACACTC GGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1240		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135448	CGCTACCT others(30): Show CGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0008 a0002c0005t0005g0008	1	334	0.0030	-37	c.37 others(48): Show c.3787_*3823delTGGGCACCGTGGGCACACTCGGGAGGTGGGAGGT AGC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1145		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136078	CGCTCCTC others(30): Show CGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0008 a0002c0005t0005g0008	1	334	0.0030	-37	c.31 others(48): Show c.3157_*3193delCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGG AGC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		515		chr12	TogoVar
DECR2_chr16_396885_417482	410351	ATGAGAAG others(30): Show ATGAGAAGTTCTTCCGGGTGGGTGCCTCGTGCGCTCTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02258.hp2 others(24): Show HG01243.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 NA18522.hp2 NA18947.hp1 NA18948.hp2 NA18959.hp2 NA18962.hp1 NA19030.hp1 NA19064.hp2 NA19080.hp2 NA19087.hp2 NA20129.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0001 a0002c0002t0002 a0002c0009t0002 a0002c0002t0001 a0002c0002t0002 a0002c0009t0002	a0002c0002t0001g0011 a0002c0002t0001g0039 a0002c0002t0001g0109 others(12): Show a0002c0002t0001g0011 a0002c0002t0001g0039 a0002c0002t0001g0109 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0161 a0002c0002t0002g0008 a0002c0002t0002g0041 a0002c0002t0002g0178 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0009t0002g0179	27	367	0.0736	-37	c.462 others(50): Show c.462+48_462+84delCGTGCGCTCTGTGAGAAGTTCTTCCGGGTGGG TGCCT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEFB105A_chr8_7816004_7828880	7827275	CATATAGT others(30): Show CATATAGTATAGTGTATATACTAGTATAATACACTAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0038 a0001c0001t0024g0038	1	146	0.0069	-37	c.-34 others(48): Show c.-3474_-3438delACTAGTGTATTATACTAGTATATACACTATACTA TAT	DEFB105A	ENSG00000186562.8	transcript	ENST00000334773.7	protein_coding		3396		chr8	TogoVar
DEFB106A_chr8_7820139_7834053	7827275	CATATAGT others(30): Show CATATAGTATAGTGTATATACTAGTATAATACACTAGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	160	0.0063	-37	c.50- others(52): Show c.50-1457_50-1421delGTATATAGTATAGTGTATATACTAGTATAA TACACTA	DEFB106A	ENSG00000186579.3	transcript	ENST00000335186.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEFB106B_chr8_7477504_7491400	7484423	ACTATATA others(30): Show ACTATATACTAGAGTATTATACTAGTATGTATACTATG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	180	0.0056	-37	c.50- others(52): Show c.50-1708_50-1672delCATAGTATACATACTAGTATAATACTCTAG TATATAG	DEFB106B	ENSG00000187082.2	transcript	ENST00000335479.2	protein_coding	1/1			chr8	TogoVar
DENND1A_chr9_123374658_123935126	123657848	AAGAAAGA others(30): Show AAGAAAGAATCCCAGAAATTCACATAAGCAATCAAATC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03225.hp1 HG03540.hp1 others(1): Show HG01243.hp2 HG03225.hp1 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0012 a0001c0005t0005 a0001c0001t0001 a0001c0001t0012 a0001c0005t0005	a0001c0001t0001g0126 a0001c0001t0012g0127 a0001c0005t0005g0125 others(1): Show a0001c0001t0001g0126 a0001c0001t0012g0127 a0001c0005t0005g0125 a0001c0005t0005g0128	4	162	0.0247	-37	c.508 others(54): Show c.508-5762_508-5726delGATTTGATTGCTTATGTGAATTTCTGGG ATTCTTTCT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	8/23			chr9	TogoVar
DEPDC1B_chr5_60591912_60705166	60671019	GTCCCACT others(30): Show GTCCCACTGTAACTGTGAATGGGTTTGTACAGAAACAT	G G	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	292	0.0034	-37	c.314 others(56): Show c.314+15906_314+15942delATGTTTCTGTACAAACCCATTCACAG TTACAGTGGGA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DGKK_chrX_50360409_50475825	50447346	TATATATA others(30): Show TATATATATATAATATATATATATTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	248	0.0040	-37	c.645 others(56): Show c.645+22651_645+22687delTATATATATATATAATATATATATAT TATATATATAT	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	1/27			chrX	TogoVar
DHRS12_chr13_51762993_51809163	51774582	CCTACAGT others(30): Show CCTACAGTATTCTCCTACAGTATTCTCCTACATGTATT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0223 a0003c0003t0001g0223	1	420	0.0024	-37	c.364 others(52): Show c.364-585_364-549delAATACATGTAGGAGAATACTGTAGGAGAAT ACTGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51774857	CCTACAGT others(30): Show CCTACAGTATTCTCCTACAGTATTCTCCTACATGTATT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03834.hp1 HG01975.hp2 HG03834.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0002g0300 a0003c0003t0001g0223 a0001c0001t0002g0300 a0003c0003t0001g0223	2	420	0.0048	-37	c.364 others(52): Show c.364-860_364-824delAATACATGTAGGAGAATACTGTAGGAGAAT ACTGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775132	CCTACAGT others(30): Show CCTACAGTATTCTCCTACAGTATTCTCCTACATGTATT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0223 a0003c0003t0001g0223	1	420	0.0024	-37	c.364 others(54): Show c.364-1135_364-1099delAATACATGTAGGAGAATACTGTAGGAGA ATACTGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775481	TCTACAGT others(30): Show TCTACAGTATTCTCCTACATGTATTCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp1 HG02896.hp2 others(2): Show HG02257.hp2 HG02647.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0177 others(1): Show a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0177 a0001c0001t0004g0021	5	420	0.0119	-37	c.364 others(54): Show c.364-1484_364-1448delGAGAATACTGTAGAATACATGTAGGAGA ATACTGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS9_chr2_169064563_169101167	169079981	GAGAGAAA others(30): Show GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	398	0.0025	-37	c.-59 others(54): Show c.-59-1540_-59-1504delGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar

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