Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(102): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19060.hp1 NA18995.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0239 a0001c0002t0001g0180 a0001c0002t0001g0239	2	330	0.0061	109	c.735 others(124): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
CPNE7_chr16_89570758_89602246	89587332	C C	CCCGCCCC others(102): Show CCCGCCCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCCACACCG GGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGGAG TCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	348	0.0029	109	c.927 others(124): Show c.927+237_927+238insACCCCGCCCCCTCAGTCAGTGGCCCCGCCC CCCTCCACACCGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCC AGATACCTGGAGTCCCCCCCCGCCGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597828	T T	TCCGTCCA others(102): Show TCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCGTCCACC CATCCCCCCACCCACCCATCCGTCCATCCATCCCCCCGCCCACCCGTCCG TCCACCCATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0171 a0002c0003t0003g0171	1	348	0.0029	109	c.12 others(120): Show c.1207_*1208insCCGTCCATCCATCCCCCCACCCACCCATCTGTCC ACCCATCCGTCCACCCATCCCCCCACCCACCCATCCGTCCATCCATCCCC CCGCCCACCCGTCCGTCCACCCATC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		583		chr16	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCCCAC others(102): Show CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCGTCCCCTCTT TCTCCTCCCTCCCCCCCACCCTCGGTCCCCTCTTGCCCCTCCCTCCCCCC CACCCCGGGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0194 a0001c0003t0002g0194	1	324	0.0031	109	c.101 others(126): Show c.1010-538_1010-537insCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCCGTCCCCTCTTTCTCCTCCCTCCCCCCCACCCTCGGTCCCCTCT TGCCCCTCCCTCCCCCCCACCCCGGGTCCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106483401	T T	TATATATA others(102): Show TATATATATGTATATATATATATATATATATATATGTATATATATATATA TATATGTATATATATATATATATATGTATATATATATATATATATATATA TATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	272	0.0037	109	c.313 others(128): Show c.313-28028_313-28027insTATATATGTATATATATATATATATA TATATATGTATATATATATATATATATGTATATATATATATATATATGTA TATATATATATATATATATATATATATATATAA	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSMD1_chr8_2930361_4999914	3448345	G G	GAAGGAAG others(102): Show GAAGGAAGGAAGGAAGGAAGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGGGGAGGGAGGGAGGGAGGGAG GGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0006 a0001c0026t0006	a0001c0026t0006g0093 a0001c0026t0006g0093	1	126	0.0079	109	c.156 others(130): Show c.1561+20366_1561+20367insTCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTTCCT CCTCCCTCCCTCCCTTCTTCCTTCCTTCCTTCCTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3693886	A A	ATATAGAT others(102): Show ATATAGATGTGTGTTGGCGTCTTGTGTGTGTGTGTTGTGTTTGTTATGGT GTGTGTGTTGTGTGTGTTAGGGTATATTATGTGCTGTATGTGTGTTTCGT GTATGTTGAG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0079 a0001c0079	a0001c0079t0072 a0001c0079t0072	a0001c0079t0072g0113 a0001c0079t0072g0113	1	126	0.0079	109	c.100 others(130): Show c.1009+14527_1009+14528insCTCAACATACACGAAACACACATA CAGCACATAATATACCCTAACACACACAACACACACACCATAACAAACAC AACACACACACACAAGACGCCAACACACATCTATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSNK1G2_chr19_1936172_1986338	1968138	G G	GCTCCTCC others(102): Show GCTCCTCCCTCCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGG TGGGGCTCCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGG GGGCTCCTCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0031 a0001c0004t0002g0031	1	382	0.0026	109	c.-26 others(128): Show c.-265-1362_-265-1361insTCCTCCCCAGGCTGCCCCCGACCACC CTTCAGTTCTGCAGGTGGGGCTCCTCCCCAGGCTGCCCCCGACCACCCTT CAGTTCTGCAGGTGGGGGCTCCTCCCTCCTCCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1968219	A A	AGACCACC others(102): Show AGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCCAGGCTG CCCCCGACCACCCTTCAGTTCTGCAGGTGGGGGCTCCTCCCTCCTCCCCA GGCTGCCCCC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	382	0.0026	109	c.-26 others(128): Show c.-265-1181_-265-1180insCGACCACCCTTCAGTTCTGCAGGTGG GGCTCCTCCCTCCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAG GTGGGGGCTCCTCCCTCCTCCCCAGGCTGCCCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSPP1_chr8_67059392_67201614	67159920	C C	CTTTCTTT others(102): Show CTTTCTTTCTTTCCTTCTTTCCTTCCTTCCTTCCTCCTTCCTTCCTTCTT CCTTCCTTCCTCCTTCCTTCCTTCTTCCTTCTTCCTTCCTTCCTTCTTTC TTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	158	0.0063	109	c.253 others(126): Show c.2538+787_2538+788insTTTCTTTCCTTCTTTCCTTCCTTCCTTC CTCCTTCCTTCCTTCTTCCTTCCTTCCTCCTTCCTTCCTTCTTCCTTCTT CCTTCCTTCCTTCTTTCTTTCTTTTCTTTTC	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CT45A1_chrX_135708639_135728228	135723962	C C	CATATATG others(102): Show CATATATGGTATATATACCATATATATGGTATATATACCATATATATATG GTATATATACCATATATATGGTATATATACCATATATATGGTATATATAT ATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	57	0.0175	109	c.92 others(118): Show c.929_*930insATATATGGTATATATACCATATATATGGTATATATA CCATATATATATGGTATATATACCATATATATGGTATATATACCATATAT ATGGTATATATATATATATATAT	CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding		735		chrX	TogoVar
CTNS_chr17_3631760_3668103	3656172	C C	CCCTCACC others(102): Show CCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGCCCTCACCCCCTGC CATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACC CCCCACCAGT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19089.hp1 NA18957.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0192 a0001c0001t0001g0121 a0001c0001t0001g0192	2	372	0.0054	109	c.462 others(124): Show c.462-280_462-279insCCCTCACCCCCTGCCATGCCCCTCCACCCC CGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCAC CCCCTGCCATGCCCCTCCACCCCCGCCAG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTSS_chr1_150725188_150770778	150743606	T T	TATACATA others(102): Show TATACATATATTATATGTATATTATGTATACATAATATACATATATTATA TGTATATTATGTATACATAATATACATATATTATATGTATATTATGTATA CATAATATAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0214 a0001c0001t0016g0214	1	344	0.0029	109	c.896 others(126): Show c.896+4170_896+4171insGTATATTATGTATACATAATATACATAT AATATATGTATATTATGTATACATAATATACATATAATATATGTATATTA TGTATACATAATATACATATAATATATGTAT	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CUL4A_chr13_113204613_113272108	113232169	C C	CGCCCACC others(102): Show CGCCCACCACTATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCC ACCACCGCTATTACTACTGCCACCACCACCTGTCCACCACCATTACTGTC ACCACTACCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02735.hp1 others(5): Show HG01256.hp1 HG01258.hp2 HG02735.hp1 HG02738.hp1 HG03491.hp2 HG03492.hp1 HG04228.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0003 a0001c0001t0021	a0001c0001t0003g0026 a0001c0001t0003g0178 a0001c0001t0003g0179 others(5): Show a0001c0001t0003g0026 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0021g0249	8	396	0.0202	109	c.513 others(124): Show c.513-999_513-998insTATTACTGCTGCTGCCACCACCAGTATTAC TGTCACCGCCACCACCGCTATTACTACTGCCACCACCACCTGTCCACCAC CATTACTGTCACCACTACCTGCCCACCAC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232169	C C	CGCCCACC others(102): Show CGCCCACCACTATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCC ACCACCGCTATTACTACTGCCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA20805.hp1 HG00733.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	2	396	0.0051	109	c.513 others(124): Show c.513-999_513-998insTATTACTGCTGCTGCCACCACCAGTATTAC TGTCACCGCCACCACCGCTATTACTACTGCCACCACTACCCGCCCACCAC CATTACTGTCACCACTACCTGCCCACCAC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232275	T T	TATTACTG others(102): Show TATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTA TTACTACTGCCACCACCACCTGTCCACCACCATTACTGTCACCACTACCT GCCCACCACC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(58): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02647.hp2 HG02738.hp2 HG02965.hp1 HG03041.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp1 NA18939.hp2 NA18945.hp1 NA18949.hp2 NA18957.hp1 NA18969.hp1 NA18973.hp1 NA18980.hp1 NA18985.hp1 NA18986.hp1 NA18992.hp2 NA19009.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19076.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0139 others(55): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0191 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0313 a0001c0001t0001g0325 a0001c0001t0001g0333 a0001c0001t0001g0374 a0001c0001t0006g0145 a0001c0001t0008g0228 a0001c0001t0008g0277 a0001c0001t0009g0217 a0001c0001t0009g0224 a0001c0001t0013g0274 a0001c0001t0013g0288 a0001c0007t0001g0209	61	396	0.1540	109	c.513 others(124): Show c.513-891_513-890insTGCCACCACCAGTATTACTGTCACCGCCAC CACCGCTATTACTACTGCCACCACCACCTGTCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGCTGC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYP2A7_chr19_40870439_40887231	40880798	G G	GTCGAGGT others(102): Show GTCGAGGTAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAG AAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAAGAGAGAGAGGAGAGAGAG AGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0021 a0021	a0021c0025 a0021c0025	a0021c0025t0010 a0021c0025t0010	a0021c0025t0010g0116 a0021c0025t0010g0116	1	398	0.0025	109	c.344 others(124): Show c.344-171_344-170insTTCTCTCTCTCTCTCTCTCCTCTCTCTCTT CTCTCTCTCTCTCTCTCTCCTCTCTCTCTTCTCTCCCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTACCTCGA	CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	2/8			chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15676713	A A	ATTCCCCT others(102): Show ATTCCCCTCCTCCCATTCCTTTACCCACTCACTCATTCCTCTCCTCACTC ACTCATTCCTCTACCCACACACTCATTCCTTTCTTCACTCACTCGTTCAT CTACCCACTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0004 a0005c0007t0004	a0005c0007t0004g0207 a0005c0007t0004g0207	1	410	0.0024	109	c.199 others(126): Show c.199-1548_199-1547insTTCCCCTCCTCCCATTCCTTTACCCACT CACTCATTCCTCTCCTCACTCACTCATTCCTCTACCCACACACTCATTCC TTTCTTCACTCACTCGTTCATCTACCCACTC	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12			chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650812	T T	TTCTTTCT others(102): Show TTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTTCCTTCCTT CCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTCTTT CTCTCTCTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02735.hp2 HG03209.hp2 others(1): Show HG00140.hp1 HG02735.hp2 HG03209.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0030 a0001c0002t0001 a0001c0002t0030	a0001c0002t0001g0364 a0001c0002t0001g0365 a0001c0002t0001g0375 others(1): Show a0001c0002t0001g0364 a0001c0002t0001g0365 a0001c0002t0001g0375 a0001c0002t0030g0333	4	424	0.0094	109	c.918 others(124): Show c.918+645_918+646insCTTTCTTTCTTTCTTTCTTTCTTTTCCTTC CTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTC TTTCTCTCTCTTCTCTTTCTTTCTTTCTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650816	T T	TTCTTTCT others(102): Show TTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCCTTCCTT CCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTCTTT CTCTCTCTTC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0380 a0001c0002t0001g0380	1	424	0.0024	109	c.918 others(124): Show c.918+645_918+646insCTTTCTTTCTTTCTTTCTTTCTTTCTTTTC CTTCCTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTC TTTCTTTCTCTCTCTTCTCTTTCTTTCTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
DCLK1_chr13_35763652_36136382	35826542	A A	AGGAAGGA others(102): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0027 a0001c0001t0001g0028	2	230	0.0087	109	c.140 others(128): Show c.1407+1092_1407+1093insCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCC	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	10/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251150	A A	ACACCACA others(102): Show ACACCACACATCCCCCACACCCCCCACACCACACATCCCTCACACCCCTC ACATCCCCCACACCCCCCACATCCCCCACACCCCCCACACCACACATCCC TCACACCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	116	0.0086	109	c.207 others(128): Show c.2073+1469_2073+1470insCACACATCCCCCACACCCCCCACACC ACACATCCCTCACACCCCTCACATCCCCCACACCCCCCACATCCCCCACA CCCCCCACACCACACATCCCTCACACCCCTCAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DENND6B_chr22_50304030_50332012	50312679	C C	CGGGGGCC others(102): Show CGGGGGCCATGGGGCTGACCCTGGGGATTGACAGGCGGGGGGCCATGGGG CTGACCCTGGGGATTGACAGGCGGGGGGGCCATGGGGCTGACCCTGGGGA TTGACAGGCG	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19081.hp2 HG02071.hp1 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0004 a0001c0003t0001 a0001c0006t0004	a0001c0003t0001g0260 a0001c0006t0004g0173 a0001c0003t0001g0260 a0001c0006t0004g0173	2	326	0.0061	109	c.145 others(124): Show c.1458-55_1458-54insCGCCTGTCAATCCCCAGGGTCAGCCCCATG GCCCCCCCGCCTGTCAATCCCCAGGGTCAGCCCCATGGCCCCCCGCCTGT CAATCCCCAGGGTCAGCCCCATGGCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50312750	C C	CGGGGGGC others(102): Show CGGGGGGCCATGGGGCTGACCCTGGGGATTGACAGGCGGGGGGCCATGGG GCTGACCCTGGGGATTGACAGGCGGGGGGCCATGGGGCTGACCCTGGGGA TTGACAGGCG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0315 a0001c0004t0004g0315	1	326	0.0031	109	c.145 others(126): Show c.1457+140_1458-126dupCGCCTGTCAATCCCCAGGGTCAGCCCCA TGGCCCCCCGCCTGTCAATCCCCAGGGTCAGCCCCATGGCCCCCCGCCTG TCAATCCCCAGGGTCAGCCCCATGGCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50312801	C C	CTGAACCT others(102): Show CTGAACCTGGGGATTGACAGGCGGGGGGCCATGGGGCTGACCCTGGGGAT TGACAGGCGGGGGGCCATGGGGCTGACCCTGGGGATTGACAGGCGGGGGG GCCATGGGGA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0208 a0003c0005t0005g0208	1	326	0.0031	109	c.145 others(126): Show c.1458-177_1458-176insTCCCCATGGCCCCCCCGCCTGTCAATCC CCAGGGTCAGCCCCATGGCCCCCCGCCTGTCAATCCCCAGGGTCAGCCCC ATGGCCCCCCGCCTGTCAATCCCCAGGTTCA	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50312801	C C	CTGACCCT others(102): Show CTGACCCTGGGGATTGACAGGCGGGGGGCCATGGGGCTGACCCCTGGGGA TTGACAGGCGGGGGGCCATGGGGCTGACCCTGGGGATTGACAGGCGGGGG GCCATGGGGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0259 a0001c0003t0001g0259	1	326	0.0031	109	c.145 others(126): Show c.1458-177_1458-176insTCCCCATGGCCCCCCGCCTGTCAATCCC CAGGGTCAGCCCCATGGCCCCCCGCCTGTCAATCCCCAGGGGTCAGCCCC ATGGCCCCCCGCCTGTCAATCCCCAGGGTCA	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50312801	C C	CTGACCCT others(102): Show CTGACCCTGGGGATTGACAGGCGGGGGGCCATGGGGCTGACCCTGGGGAT TGACAGGCGGGGGGCCATGGGGCTGACCCTGGGGATTGACAGGCGGGGGG GCCATGGGGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02155.hp1 HG00673.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0298 a0002c0002t0001g0304 a0002c0002t0001g0298 a0002c0002t0001g0304	2	326	0.0061	109	c.145 others(126): Show c.1458-177_1458-176insTCCCCATGGCCCCCCCGCCTGTCAATCC CCAGGGTCAGCCCCATGGCCCCCCGCCTGTCAATCCCCAGGGTCAGCCCC ATGGCCCCCCGCCTGTCAATCCCCAGGGTCA	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50312801	C C	CTGACCCT others(102): Show CTGACCCTGGGGATTGACAGGCGGGGGGGCCATGGGGCTGACCCTGGGGA TTGACAGGCGGGGGGCCATGGGGCTGACCCTGGGGATTGACAGGCGGGGG GCCATGGGGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0279 a0002c0002t0001g0279	1	326	0.0031	109	c.145 others(126): Show c.1458-177_1458-176insTCCCCATGGCCCCCCGCCTGTCAATCCC CAGGGTCAGCCCCATGGCCCCCCGCCTGTCAATCCCCAGGGTCAGCCCCA TGGCCCCCCCGCCTGTCAATCCCCAGGGTCA	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50312822	C C	CGGGGGGC others(102): Show CGGGGGGCCATGGGGCTGACCCTGGGGATTGACAGGCGGGGGGCCATGGG GCTGACCCTGGGGATTGACAGGCGGGGGGCCATGGGGATGACCCTGGGGA TTGACAGGCG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03710.hp2 NA18999.hp2 HG01192.hp1 HG03710.hp2 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0002c0002t0031 a0001c0003t0001 a0002c0002t0001 a0002c0002t0031	a0001c0003t0001g0228 a0002c0002t0001g0313 a0002c0002t0031g0252 a0001c0003t0001g0228 a0002c0002t0001g0313 a0002c0002t0031g0252	3	326	0.0092	109	c.145 others(125): Show c.1457+68_1457+176dupCGCCTGTCAATCCCCAGGGTCATCCCCAT GGCCCCCCGCCTGTCAATCCCCAGGGTCAGCCCCATGGCCCCCCGCCTGT CAATCCCCAGGGTCAGCCCCATGGCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50312858	C C	CGGGGGGC others(102): Show CGGGGGGCCATGGGGCTGACCCTGGGGATTGACAGGCGGGGGGCCATGGG GATGACCCTGGGGATTGACAGGCGGGGGGCCATGGGGCTGACCCTGGGGA TTGACAGGCG	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18947.hp1 HG02602.hp1 NA18947.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0034 a0001c0003t0001 a0001c0003t0034	a0001c0003t0001g0224 a0001c0003t0034g0249 a0001c0003t0001g0224 a0001c0003t0034g0249	2	326	0.0061	109	c.145 others(126): Show c.1457+140_1457+141insCGCCTGTCAATCCCCAGGGTCAGCCCCA TGGCCCCCCGCCTGTCAATCCCCAGGGTCATCCCCATGGCCCCCCGCCTG TCAATCCCCAGGGTCAGCCCCATGGCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50312894	C C	CGGGGGGC others(102): Show CGGGGGGCCATGGGGATGACCCTGGGGATTGACAGGCGGGGGGCCATGGG GCTGACCCTGGGGATTGACAGGCGGGGGGCCATGGGGCTGACCCTGGGGA TTGACAGGCG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01192.hp2 HG01243.hp2 others(1): Show HG00438.hp2 HG01192.hp2 HG01243.hp2 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0001 a0002c0002t0015 a0002c0008t0001 a0002c0002t0001 a0002c0002t0015 a0002c0008t0001	a0002c0002t0001g0217 a0002c0002t0001g0283 a0002c0002t0015g0234 others(1): Show a0002c0002t0001g0217 a0002c0002t0001g0283 a0002c0002t0015g0234 a0002c0008t0001g0262	4	326	0.0123	109	c.145 others(126): Show c.1457+104_1457+105insCGCCTGTCAATCCCCAGGGTCAGCCCCA TGGCCCCCCGCCTGTCAATCCCCAGGGTCAGCCCCATGGCCCCCCGCCTG TCAATCCCCAGGGTCATCCCCATGGCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50312930	C C	CGGGGGGC others(102): Show CGGGGGGCCATGGGGCTGACCCTGGGGATTGACAGGCGGGGGGCCATGGG GCTGACCCTGGGGATTGACAGGCGGGGGGCCATGGGGATGACCCTGGGGA TTGACAGGCG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0247 a0002c0002t0001g0247	1	326	0.0031	109	c.145 others(124): Show c.1457+68_1457+69insCGCCTGTCAATCCCCAGGGTCATCCCCATG GCCCCCCGCCTGTCAATCCCCAGGGTCAGCCCCATGGCCCCCCGCCTGTC AATCCCCAGGGTCAGCCCCATGGCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DGKI_chr7_137376037_137851974	137472392	T T	TAATATAT others(102): Show TAATATATGTATATATACATAATATTATATGTATATATACATATAATTAT TATATGTATATATACATAATATTATATGTATATATACATATAATTATATG TATATATACA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0002 a0001c0011t0001g0031 a0001c0011t0001g0002 a0001c0011t0001g0031	2	94	0.0213	109	c.237 others(128): Show c.2374-2774_2374-2773insTGTATATATACATATAATTATATGTA TATATACATATAATATTATGTATATATACATATAATAATTATATGTATAT ATACATATAATATTATGTATATATACATATATT	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32			chr7	TogoVar
DIDO1_chr20_62872743_62931505	62875284	C C	CCACCCGC others(102): Show CCACCCGCACCCTCACCCCCCACCCCCACCCTCACCCCACCCCCCACCGC ACCCGCACCCCGCACCCCCACCCCCACCCTCACCCGCACCCCCACCCCCA CCCTCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0026 a0003c0003t0001g0026	1	320	0.0031	109	c.39 others(120): Show c.3948_*3949insAGGGTGAGGGTGGGGGTGGGGGTGCGGGTGAGGG TGGGGGTGGGGGTGCGGGGTGCGGGTGCGGTGGGGGGTGGGGTGAGGGTG GGGGTGGGGGGTGAGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2458		chr20	TogoVar
DIP2B_chr12_50499985_50753657	50593784	C C	CCCCCTCC others(102): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCT CCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19005.hp2 HG02040.hp2 NA19005.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0040 a0001c0003t0002g0042 a0001c0003t0002g0040 a0001c0003t0002g0042	2	284	0.0070	109	c.101 others(128): Show c.101-32186_101-32185insCCCTCCCCCCTCCCCTCCCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598866	C C	CCCCCTCT others(102): Show CCCCCTCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCCTCCCCCCT CCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0221 a0001c0002t0003g0221	1	284	0.0035	109	c.101 others(128): Show c.101-27104_101-27103insTCCCCCTCCCCTCCCCTCTCCCCTCC CCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	477469	G G	GGAGGAAG others(102): Show GGAGGAAGGTGGATGGGGGGAGGCAGGGGGAGGCGGGGGGAGGAAGGTGG ATGGGGGGAGGCGGGGGGAGGCGGGGGGAGGAAGGTGGATGGGGGGAGGC GGGGGGAGGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	109	c.158 others(126): Show c.158-4921_158-4920insGCCTCCCCCCGCCTCCCCCCATCCACCT TCCTCCCCCCGCCTCCCCCCGCCTCCCCCCATCCACCTTCCTCCCCCCGC CTCCCCCTGCCTCCCCCCATCCACCTTCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	477532	T T	TGGGGGAG others(102): Show TGGGGGAGAGAGAGGAGAAAGGTGGATAAAGGGAGGGGGAGAGGAAGGAG GGGGCACAGGGGGAGGAAGGGGCACGGGGGAAGGTGGGGGGGGTGGGGGG AGGAAGGTGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0063 a0001c0002t0003g0063	1	88	0.0114	109	c.158 others(126): Show c.158-4984_158-4983insCCACCTTCCTCCCCCCACCCCCCCCACC TTCCCCCGTGCCCCTTCCTCCCCCTGTGCCCCCTCCTTCCTCTCCCCCTC CCTTTATCCACCTTTCTCCTCTCTCTCCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478176	G G	GAAGGGAG others(102): Show GAAGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGGAGAAGGGAGGGGAG GGGAGGAGAAGGGAGGGGAGGGGAGGAGAAGGGAGGGGAGGGGAGGAGAA GGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0038 a0001c0006t0002g0038	1	88	0.0114	109	c.158 others(126): Show c.158-5628_158-5627insTTCTCCTCCCTTCTCCTCCCCTCCCCTC CCTTCTCCTCCCCTCCCCTCCCTTCTCCTCCCCTCCCCTCCCTTCTCCTC CCCTCCCCTCCCTTCTCCCCTCCCCTCCCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DISP3_chr1_11474155_11542551	11522814	G G	GAGCCCAG others(102): Show GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAG GACCCAGCCA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18979.hp1 NA18974.hp2 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0018 a0002c0002 a0002c0018	a0002c0002t0002 a0002c0018t0002 a0002c0002t0002 a0002c0018t0002	a0002c0002t0002g0123 a0002c0018t0002g0166 a0002c0002t0002g0123 a0002c0018t0002g0166	2	358	0.0056	109	c.236 others(128): Show c.2363-1128_2363-1127insAGCCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGGCCCAGCCAGGACCCAGCCAGGACCCAGCCA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DISP3_chr1_11474155_11542551	11522814	G G	GAGCCCAG others(102): Show GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAG GGCCCAGCCA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0062	1	358	0.0028	109	c.236 others(128): Show c.2363-1128_2363-1127insAGCCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DLC1_chr8_13078361_13519851	13219037	A A	ATTATATA others(102): Show ATTATATACGAATATAATTATATAATTATATATGAATTATATAATTATAT ACGAATATAATTATACAATTATATATGAATATAATTATATAATTATATAC GAATATAATT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0007 a0008c0010t0007	a0008c0010t0007g0156 a0008c0010t0007g0156	1	212	0.0047	109	c.134 others(130): Show c.1348+86231_1348+86232insAATTATATTCGTATATAATTATAT AATTATATTCATATATAATTGTATAATTATATTCGTATATAATTATATAA TTCATATATAATTATATAATTATATTCGTATATAA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DNAI7_chr12_25103289_25200160	25174542	T T	TATATATG others(102): Show TATATATGATATATATCATATATATGGGATATATATGATATATATCATAT ATATGGGATATATATATGATATATATATCATATATATGGGATATATATCA TATATATGGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	336	0.0030	109	c.22- others(126): Show c.22-13346_22-13345insCCCATATATATGATATATATCCCATATA TATGATATATATATCATATATATATCCCATATATATGATATATATCATAT ATATCCCATATATATGATATATATCATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNAJC4_chr11_64225548_64239281	64237123	G G	GAGAGAGA others(102): Show GAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATATATA TATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	109	c.29 others(120): Show c.2939_*2940insAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATAT ATATATATATATATATATATATATA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2843		chr11	TogoVar
DNAJC4_chr11_64225548_64239281	64237123	G G	GAGAGAGA others(102): Show GAGAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATATATA TATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	109	c.29 others(120): Show c.2939_*2940insAGAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATAT ATATATATATATATATATATATATA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2843		chr11	TogoVar
DNAJC4_chr11_64225548_64239281	64237123	G G	GAGAGAGA others(102): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATA TATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	109	c.29 others(120): Show c.2939_*2940insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATAT ATATATATATATATATATATATATA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2843		chr11	TogoVar
DPEP1_chr16_89608642_89643433	89634594	T T	TCCCTTCC others(102): Show TCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02083.hp1 HG03239.hp2 others(4): Show HG01891.hp1 HG02083.hp1 HG03239.hp2 HG03516.hp2 NA18522.hp2 NA18984.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0082 a0001c0001t0001g0100 a0001c0001t0001g0120 others(4): Show a0001c0001t0001g0082 a0001c0001t0001g0100 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0132 a0002c0002t0001g0033 a0002c0002t0001g0054	7	250	0.0280	109	c.105 others(126): Show c.105-1304_105-1303insCCTTTCCCTTCCTTCCCTTTCCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRC3_chr17_17967862_18021889	18007150	A A	AGGCGGGG others(102): Show AGGCGGGGCGGGCGGAGCATGTCGGGGAAGGGCTGGATGGAGTTGGACTG GGTGGGGAAGGGGCGGAGATGGGGCGGGGCGGGGGGGGGGGAGCTGGGAG GGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp2 HG01256.hp2 others(28): Show HG00609.hp2 HG00642.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02129.hp2 HG02300.hp1 HG02451.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp2 NA18944.hp2 NA18983.hp1 NA18986.hp1 NA18990.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0002c0002t0004	a0001c0001t0001g0152 a0001c0001t0001g0168 a0001c0001t0001g0184 others(27): Show a0001c0001t0001g0152 a0001c0001t0001g0168 a0001c0001t0001g0184 a0001c0001t0001g0214 a0001c0001t0001g0227 a0001c0001t0003g0016 a0001c0001t0003g0262 a0001c0001t0003g0264 a0001c0001t0003g0266 a0001c0001t0003g0275 a0001c0001t0003g0297 a0001c0001t0003g0299 a0001c0001t0003g0302 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0086 a0002c0002t0002g0096 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0141 a0002c0002t0004g0039 a0002c0002t0004g0040	31	324	0.0957	109	c.132 others(124): Show c.1326+15_1326+16insGGAGCATGTCGGGGAAGGGCTGGATGGAGT TGGACTGGGTGGGGAAGGGGCGGAGATGGGGCGGGGCGGGGGGGGGGGAG CTGGGAGGGAGGGGAGGGGCGGGGCGGGC	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DRC3_chr17_17967862_18021889	18007150	A A	AGGCGGGG others(102): Show AGGCGGGGCGGGCGGAGCATGTTGGGGAAGGGCTGGATGGAGTTGGACTG GGTGGGGAAGGGGCGGAGATGGGGCGGGGCGGGGGGGGGGGAGCTGGGAG GGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	324	0.0031	109	c.132 others(124): Show c.1326+15_1326+16insGGAGCATGTTGGGGAAGGGCTGGATGGAGT TGGACTGGGTGGGGAAGGGGCGGAGATGGGGCGGGGCGGGGGGGGGGGAG CTGGGAGGGAGGGGAGGGGCGGGGCGGGC	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DUSP8_chr11_1549051_1577271	1551123	C C	CCATCCAC others(102): Show CCATCCACCCACCCATCCACCCCACTCATCCCTCTACCCATTCATCATCT GCCTATCCATCCATCCAACCACCCACCCCACTCATCCCTCTACCCATTCA TCCATTTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18952.hp2 NA18950.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	2	367	0.0055	109	c.53 others(120): Show c.5394_*5395insAGCAAATGGATGAATGGGTAGAGGGATGAGTGGG GTGGGTGGTTGGATGGATGGATAGGCAGATGATGAATGGGTAGAGGGATG AGTGGGGTGGATGGGTGGGTGGATG	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		2927		chr11	TogoVar

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