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
UBL3_chr13_29759371_29855617	29835107	AATATATA others(15): Show AATATATATATATATATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01358.hp1 HG03130.hp1 others(1): Show HG00438.hp2 HG01358.hp1 HG03130.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0052 a0001c0001t0003g0096 a0001c0001t0016g0012 others(1): Show a0001c0001t0003g0052 a0001c0001t0003g0096 a0001c0001t0016g0012 a0001c0001t0016g0013	4	392	0.0102	-22	c.27+ others(39): Show c.27+14383_27+14404delATATTTATATATATATATATAT	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBL3_chr13_29759371_29855617	29835125	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03041.hp1 HG03704.hp1 others(1): Show HG01168.hp1 HG03041.hp1 HG03704.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0359 others(1): Show a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0359 a0001c0001t0025g0065	4	392	0.0102	-22	c.27+ others(39): Show c.27+14365_27+14386delATATATATATATATATATATAT	UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4			chr13	TogoVar
UBP1_chr3_33383336_33445405	33425996	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01884.hp1 HG02055.hp2 others(5): Show HG00738.hp1 HG01884.hp1 HG02055.hp2 HG02602.hp2 HG02615.hp2 HG04199.hp2 NA18522.hp1 NA18960.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 a0001c0001t0001 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0267 a0001c0001t0001g0283 a0001c0001t0001g0287 others(3): Show a0001c0001t0001g0267 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0006g0003 a0001c0001t0006g0116 a0002c0002t0001g0257	8	352	0.0227	-22	c.114 others(37): Show c.114-277_114-256delATATATATATATATATATATAT	UBP1	ENSG00000153560.12	transcript	ENST00000283629.8	protein_coding	1/15			chr3	TogoVar
UBR2_chr6_42559029_42698505	42659520	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	342	0.0029	-22	c.324 others(38): Show c.3243-115_3243-94delACACACACACACACACACACAC	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
UBR3_chr2_169822454_170089131	169829814	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	324	0.0031	-22	c.545 others(39): Show c.545+1781_545+1802delACACACACACACACACACACAC	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169835993	GTCTCTCT others(15): Show GTCTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0267 a0001c0006t0005g0267	1	324	0.0031	-22	c.545 others(39): Show c.545+7971_545+7992delCTCTCTCTCTCTCTCTCTCTCT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169836023	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02976.hp1 HG02451.hp2 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0007 a0001c0006t0022 a0001c0002t0007 a0001c0006t0022	a0001c0002t0007g0131 a0001c0006t0022g0268 a0001c0002t0007g0131 a0001c0006t0022g0268	2	324	0.0062	-22	c.545 others(39): Show c.545+7973_545+7994delCTCTCTCTCTCTCTCTCTCTAT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169836025	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03239.hp1 HG02922.hp2 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0007 a0001c0006t0008 a0001c0002t0007 a0001c0006t0008	a0001c0002t0007g0124 a0001c0006t0008g0192 a0001c0002t0007g0124 a0001c0006t0008g0192	2	324	0.0062	-22	c.545 others(39): Show c.545+7975_545+7996delCTCTCTCTCTCTCTCTCTATAT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169838385	ATTTGTGT others(15): Show ATTTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01256.hp2 HG01978.hp2 others(12): Show HG00735.hp2 HG01256.hp2 HG01978.hp2 HG02027.hp1 HG02451.hp1 HG02559.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03831.hp1 NA18986.hp1 NA19067.hp1 NA19088.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0013 a0006c0018 a0001c0001 a0001c0013 a0006c0018	a0001c0001t0001 a0001c0013t0001 a0006c0018t0001 a0001c0001t0001 a0001c0013t0001 a0006c0018t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 others(12): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0077 a0001c0013t0001g0040 a0006c0018t0001g0037	15	324	0.0463	-22	c.545 others(41): Show c.545+10335_545+10356delTTGTGTGTGTGTGTGTGTGTGT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169838387	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02922.hp1 HG01243.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0045 a0001c0003t0003g0245 a0001c0001t0001g0045 a0001c0003t0003g0245	2	324	0.0062	-22	c.545 others(41): Show c.545+10375_545+10396delGTGTGTGTGTGTGTGTGTGTGT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR4_chr1_19069510_19215266	19166714	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0122 a0003c0003t0001g0122	1	326	0.0031	-22	c.410 others(39): Show c.4109+286_4109+307delTTTTTTTTTTTTTTTTTTTTTT	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	29/105			chr1	TogoVar
UBR5_chr8_102247273_102417700	102284247	CAGAAAAA others(15): Show CAGAAAAAAAGAAATGTGATTTG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	328	0.0031	-22	c.569 others(39): Show c.5696+858_5696+879delCAAATCACATTTCTTTTTTTCT	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	40/58			chr8	TogoVar
UBR5_chr8_102247273_102417700	102309037	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG01167.hp1 HG02896.hp1 HG02897.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 others(1): Show a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228	4	328	0.0122	-22	c.261 others(41): Show c.2616+2240_2616+2261delCACACACACACACACACACACA	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	20/58			chr8	TogoVar
UBXN2A_chr2_23935463_24009909	23951413	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02165.hp1 HG03453.hp2 others(2): Show HG01074.hp2 HG02165.hp1 HG03453.hp2 HG03834.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0091 a0001c0001t0001g0109 a0001c0001t0001g0149 others(2): Show a0001c0001t0001g0091 a0001c0001t0001g0109 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0007g0103	5	250	0.0200	-22	c.-14 others(39): Show c.-14-6858_-14-6837delTATATATATATATATATATATA	UBXN2A	ENSG00000173960.14	transcript	ENST00000309033.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBXN4_chr2_135736855_135790056	135785690	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG01256.hp1 others(78): Show HG00280.hp1 HG00741.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02056.hp2 HG02132.hp2 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp2 HG02698.hp1 HG02809.hp1 HG02818.hp1 HG02970.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp2 HG03490.hp1 HG03688.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18945.hp1 NA18947.hp2 NA18954.hp1 NA18955.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18979.hp2 NA18982.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19006.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19088.hp2 NA19091.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0022 a0001c0004t0003	a0001c0001t0002g0005 a0001c0001t0002g0226 a0001c0001t0002g0231 others(72): Show a0001c0001t0002g0005 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0013g0090 a0001c0001t0022g0092 a0001c0004t0003g0028 a0001c0004t0003g0029 a0001c0004t0003g0030 a0001c0004t0003g0066 a0001c0004t0003g0067 a0001c0004t0003g0068 a0001c0004t0003g0294 a0001c0004t0003g0299	81	370	0.2189	-22	c.28 others(33): Show c.2804_*2825delTTTTTTTTTTTTTTTTTTTTTT	UBXN4	ENSG00000144224.17	transcript	ENST00000272638.14	protein_coding		635		chr2	TogoVar
UCK2_chr1_165822614_165916618	165880564	GGGGTGTG others(15): Show GGGGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03209.hp2 HG01081.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0270 a0001c0001t0002g0162 a0001c0001t0002g0270	2	320	0.0063	-22	c.100 others(39): Show c.100-9638_100-9617delGGTGTGTGTGTGTGTGTGTGTG	UCK2	ENSG00000143179.16	transcript	ENST00000367879.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
UCN2_chr3_48556718_48568781	48559898	CCACACAC others(15): Show CCACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	302	0.0033	-22	c.28 others(33): Show c.2866_*2887delTGTGTGTGTGTGTGTGTGTGTG	UCN2	ENSG00000145040.4	transcript	ENST00000273610.4	protein_coding		1819		chr3	TogoVar
UCN3_chr10_5359966_5379692	5370034	CGTGTGTA others(15): Show CGTGTGTATATGCGTGTGTATGT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0362 a0002c0001t0001g0362	1	468	0.0021	-22	c.-6- others(37): Show c.-6-3669_-6-3648delCGTGTGTATGTGTGTGTATATG	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370129	GTATGTGT others(15): Show GTATGTGTGTGTATGCGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03139.hp1 HG03471.hp2 others(2): Show HG02809.hp1 HG03139.hp1 HG03471.hp2 HG06807.hp2 NA19240.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0006 a0002c0001t0001 a0002c0001t0006	a0002c0001t0001g0027 a0002c0001t0001g0274 a0002c0001t0001g0275 others(1): Show a0002c0001t0001g0027 a0002c0001t0001g0274 a0002c0001t0001g0275 a0002c0001t0006g0289	5	468	0.0107	-22	c.-6- others(37): Show c.-6-3572_-6-3551delGCGTGTGTATATGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCP2_chr11_73969672_73987843	73986517	GGTTTTTT others(15): Show GGTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01071.hp1 others(5): Show HG00642.hp1 HG01070.hp1 HG01071.hp1 HG01123.hp1 HG01255.hp1 HG02735.hp1 HG02735.hp2 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0005 a0002c0002t0004g0005	8	420	0.0191	-22	c.-40 others(33): Show c.-4075_-4054delAAAAAAAAAAAAAAAAAAAAAC	UCP2	ENSG00000175567.11	transcript	ENST00000663595.2	protein_coding		3675		chr11	TogoVar
UCP2_chr11_73969672_73987843	73986518	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG02056.hp1 HG02135.hp2 others(5): Show HG00423.hp2 HG02056.hp1 HG02135.hp2 NA18747.hp1 NA18965.hp1 NA18994.hp1 NA19004.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0022 a0002c0002t0001g0001 a0002c0002t0001g0022	8	420	0.0191	-22	c.-40 others(33): Show c.-4076_-4055delAAAAAAAAAAAAAAAAAAAAAA	UCP2	ENSG00000175567.11	transcript	ENST00000663595.2	protein_coding		3676		chr11	TogoVar
UEVLD_chr11_18524609_18593734	18560118	CACACACA others(15): Show CACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00438.hp2 others(66): Show HG00140.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01884.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02735.hp2 HG03239.hp2 HG03492.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18966.hp2 NA18968.hp2 NA18977.hp1 NA18989.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0173 a0001c0001t0001g0263 a0001c0001t0001g0312 others(62): Show a0001c0001t0001g0173 a0001c0001t0001g0263 a0001c0001t0001g0312 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0104 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0257 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316	69	400	0.1725	-22	c.613 others(39): Show c.613-1810_613-1789delCTGTGTGTGTGTGTGTGTGTGT	UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	6/11			chr11	TogoVar
UEVLD_chr11_18524609_18593734	18560120	CACACACA others(15): Show CACACACACACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	400	0.0025	-22	c.613 others(39): Show c.613-1812_613-1791delCTCTGTGTGTGTGTGTGTGTGT	UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	6/11			chr11	TogoVar
UGCG_chr9_111891814_111940369	111911905	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19240.hp1 HG03098.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0005 a0001c0001t0020	a0001c0001t0005g0329 a0001c0001t0020g0140 a0001c0001t0005g0329 a0001c0001t0020g0140	2	424	0.0047	-22	c.99- others(37): Show c.99-2669_99-2648delATATATATATATATATATATAT	UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
UGGT1_chr2_128086200_128200677	128186894	ATTTCCTA others(15): Show ATTTCCTAGATTCTTATTTAGAC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02922.hp1 HG02723.hp1 HG02922.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0023 a0006c0011t0023	a0006c0011t0023g0003 a0006c0011t0023g0004 a0006c0011t0023g0003 a0006c0011t0023g0004	2	332	0.0060	-22	c.447 others(39): Show c.4476+100_4476+121delCTAGATTCTTATTTAGACTTTC	UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding	39/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGGT2_chr13_95796580_96058401	95889172	GCATACTA others(15): Show GCATACTAAAAAGCATCATACTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00558.hp1 others(75): Show HG00280.hp2 HG00323.hp2 HG00558.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01071.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01952.hp2 HG02055.hp1 HG02074.hp2 HG02083.hp2 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02523.hp2 HG02602.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03540.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG06807.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp2 NA18965.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18999.hp2 NA19001.hp2 NA19009.hp1 NA19012.hp1 NA19030.hp2 NA19063.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp2	a0003 a0004 a0005 others(2): Show a0003 a0004 a0005 a0008 a0018	a0003c0003 a0003c0009 a0004c0006 others(5): Show a0003c0003 a0003c0009 a0004c0006 a0004c0010 a0005c0007 a0008c0016 a0008c0023 a0018c0030	a0003c0003t0001 a0003c0009t0001 a0003c0009t0002 others(6): Show a0003c0003t0001 a0003c0009t0001 a0003c0009t0002 a0004c0006t0001 a0004c0010t0001 a0005c0007t0001 a0008c0016t0001 a0008c0023t0001 a0018c0030t0001	a0003c0003t0001g0018 a0003c0003t0001g0019 a0003c0003t0001g0020 others(75): Show a0003c0003t0001g0018 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0154 a0003c0003t0001g0168 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0241 a0003c0003t0001g0242 a0003c0003t0001g0243 a0003c0003t0001g0244 a0003c0003t0001g0245 a0003c0003t0001g0246 a0003c0003t0001g0247 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0285 a0003c0009t0001g0311 a0003c0009t0002g0001 a0003c0009t0002g0002 a0003c0009t0002g0003 a0004c0006t0001g0024 a0004c0006t0001g0166 a0004c0006t0001g0167 a0004c0006t0001g0169 a0004c0006t0001g0170 a0004c0006t0001g0171 a0004c0006t0001g0172 a0004c0006t0001g0173 a0004c0006t0001g0174 a0004c0006t0001g0175 a0004c0006t0001g0279 a0004c0010t0001g0155 a0004c0010t0001g0156 a0004c0010t0001g0157 a0005c0007t0001g0158 a0005c0007t0001g0159 a0005c0007t0001g0160 a0005c0007t0001g0161 a0005c0007t0001g0162 a0005c0007t0001g0163 a0005c0007t0001g0164 a0005c0007t0001g0165 a0005c0007t0001g0176 a0005c0007t0001g0284 a0008c0016t0001g0152 a0008c0016t0001g0153 a0008c0023t0001g0228 a0018c0030t0001g0268	78	332	0.2349	-22	c.295 others(41): Show c.2959-1223_2959-1202delTAGTATGATGCTTTTTAGTATG	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding	25/38			chr13	TogoVar
UGT2A3_chr4_68923463_68956804	68935272	GTATGTAT others(15): Show GTATGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18987.hp2 NA18939.hp1 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0031 a0001c0002t0004g0031	2	459	0.0044	-22	c.865 others(39): Show c.865-2535_865-2514delTATATATATATATATATACATA	UGT2A3	ENSG00000135220.11	transcript	ENST00000251566.9	protein_coding	2/5			chr4	TogoVar
UGT8_chr4_114593807_114683225	114611403	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03942.hp2 HG01975.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0099 a0001c0001t0004g0239 a0001c0001t0001g0099 a0001c0001t0004g0239	2	280	0.0071	-22	c.-2- others(39): Show c.-2-11454_-2-11433delTATATATATATATATATATATA	UGT8	ENSG00000174607.11	transcript	ENST00000310836.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
UHRF2_chr9_6408199_6512054	6488251	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	318	0.0031	-22	c.149 others(41): Show c.1497+1361_1497+1382delAAAAAAAAAAAAAAAAAAAAAA	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
ULK1_chr12_131889622_131928150	131894126	AGGAGGGG others(15): Show AGGAGGGGAACAGGGAAGGGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0185 a0002c0004t0004g0185	1	344	0.0029	-22	c.-87 others(31): Show c.-875_-854delGGAGGGGAACAGGGAAGGGGAG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding		495		chr12	TogoVar
ULK4_chr3_41241599_41967103	41706849	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	72	0.0139	-22	c.263 others(41): Show c.2635-1566_2635-1545delCACACACACACACACACACACA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	25/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7797478	TCAGACAA others(15): Show TCAGACAAGCCTCCTCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0140 a0001c0001t0010g0140	1	250	0.0040	-22	c.83- others(37): Show c.83-4190_83-4169delAGACAAGCCTCCTCTGGGTGAC	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847098	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA20905.hp1 NA19057.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0045 a0001c0001t0007 a0001c0001t0045	a0001c0001t0007g0069 a0001c0001t0045g0211 a0001c0001t0007g0069 a0001c0001t0045g0211	2	250	0.0080	-22	c.157 others(41): Show c.157-30181_157-30160delAAAAAATATATATATATATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847100	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02818.hp2 HG02145.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0029 a0001c0001t0014 a0001c0001t0029	a0001c0001t0014g0219 a0001c0001t0029g0233 a0001c0001t0014g0219 a0001c0001t0029g0233	2	250	0.0080	-22	c.157 others(41): Show c.157-30179_157-30158delAAAATATATATATATATATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847102	AAAATATA others(15): Show AAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18522.hp1 NA19000.hp2 HG02809.hp1 NA18522.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0021 a0001c0001t0001 a0001c0001t0016 a0001c0001t0021	a0001c0001t0001g0055 a0001c0001t0016g0148 a0001c0001t0021g0042 a0001c0001t0001g0055 a0001c0001t0016g0148 a0001c0001t0021g0042	3	250	0.0120	-22	c.157 others(41): Show c.157-30177_157-30156delAATATATATATATATATATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847104	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18999.hp1 NA19063.hp2 HG02523.hp1 NA18999.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0050 a0001c0001t0002g0046 a0001c0001t0004g0170 a0001c0001t0001g0050 a0001c0001t0002g0046 a0001c0001t0004g0170	3	250	0.0120	-22	c.157 others(41): Show c.157-30148_157-30127delATATATATATATATATATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42077002	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp1 HG02965.hp1 others(2): Show HG02451.hp2 HG02809.hp1 HG02965.hp1 HG03453.hp2 NA19240.hp2	a0012 a0021 a0030 others(1): Show a0012 a0021 a0030 a0039	a0012c0062 a0021c0041 a0030c0025 others(1): Show a0012c0062 a0021c0041 a0030c0025 a0039c0036	a0012c0062t0001 a0021c0041t0005 a0030c0025t0013 others(1): Show a0012c0062t0001 a0021c0041t0005 a0030c0025t0013 a0039c0036t0001	a0012c0062t0001g0369 a0021c0041t0005g0381 a0021c0041t0005g0382 others(2): Show a0012c0062t0001g0369 a0021c0041t0005g0381 a0021c0041t0005g0382 a0030c0025t0013g0368 a0039c0036t0001g0380	5	400	0.0125	-22	c.319 others(37): Show c.319+799_319+820delTGTGTGTGTGTGTGTGTGTGTG	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42110058	AGTGGCCT others(15): Show AGTGGCCTGGAGCCCGAGAGGGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00609.hp1 others(56): Show HG00438.hp1 HG00597.hp2 HG00609.hp1 HG01257.hp1 HG01358.hp2 HG01891.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02165.hp1 HG02257.hp1 HG02300.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG04228.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18979.hp2 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19011.hp2 NA19065.hp1 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19087.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1	a0003 a0006 a0009 others(22): Show a0003 a0006 a0009 a0011 a0013 a0015 a0022 a0025 a0026 a0038 a0054 a0058 a0069 a0071 a0084 a0085 a0097 a0112 a0113 a0119 a0120 a0123 a0124 a0125 a0127	a0003c0050 a0003c0109 a0006c0007 others(32): Show a0003c0050 a0003c0109 a0006c0007 a0006c0038 a0006c0078 a0009c0018 a0009c0027 a0009c0110 a0011c0128 a0011c0152 a0011c0198 a0013c0019 a0015c0010 a0022c0039 a0022c0080 a0022c0081 a0025c0029 a0026c0106 a0026c0108 a0038c0065 a0054c0042 a0058c0166 a0069c0082 a0071c0079 a0084c0119 a0085c0113 a0097c0107 a0112c0131 a0113c0197 a0119c0150 a0120c0165 a0123c0087 a0124c0145 a0125c0144 a0127c0170	a0003c0050t0001 a0003c0109t0001 a0006c0007t0004 others(40): Show a0003c0050t0001 a0003c0109t0001 a0006c0007t0004 a0006c0007t0018 a0006c0038t0001 a0006c0078t0004 a0009c0018t0004 a0009c0018t0018 a0009c0018t0019 a0009c0027t0001 a0009c0027t0003 a0009c0110t0004 a0011c0128t0001 a0011c0152t0003 a0011c0198t0001 a0013c0019t0001 a0013c0019t0006 a0013c0019t0021 a0013c0019t0037 a0015c0010t0002 a0015c0010t0016 a0022c0039t0001 a0022c0080t0001 a0022c0081t0004 a0025c0029t0001 a0026c0106t0001 a0026c0108t0026 a0038c0065t0001 a0054c0042t0001 a0058c0166t0001 a0069c0082t0019 a0071c0079t0002 a0084c0119t0013 a0085c0113t0022 a0097c0107t0001 a0112c0131t0002 a0113c0197t0004 a0119c0150t0001 a0120c0165t0001 a0123c0087t0002 a0124c0145t0001 a0125c0144t0025 a0127c0170t0030	a0003c0050t0001g0074 a0003c0050t0001g0079 a0003c0109t0001g0305 others(55): Show a0003c0050t0001g0074 a0003c0050t0001g0079 a0003c0109t0001g0305 a0006c0007t0004g0045 a0006c0007t0004g0172 a0006c0007t0004g0203 a0006c0007t0004g0250 a0006c0007t0004g0251 a0006c0007t0004g0253 a0006c0007t0018g0168 a0006c0038t0001g0237 a0006c0078t0004g0316 a0009c0018t0004g0344 a0009c0018t0004g0347 a0009c0018t0018g0291 a0009c0018t0019g0294 a0009c0027t0001g0113 a0009c0027t0001g0286 a0009c0027t0003g0175 a0009c0110t0004g0312 a0011c0128t0001g0342 a0011c0152t0003g0212 a0011c0198t0001g0225 a0013c0019t0001g0272 a0013c0019t0006g0061 a0013c0019t0021g0277 a0013c0019t0037g0370 a0015c0010t0002g0236 a0015c0010t0002g0241 a0015c0010t0002g0249 a0015c0010t0002g0268 a0015c0010t0016g0353 a0022c0039t0001g0081 a0022c0039t0001g0267 a0022c0080t0001g0231 a0022c0081t0004g0039 a0025c0029t0001g0004 a0025c0029t0001g0278 a0026c0106t0001g0221 a0026c0108t0026g0306 a0038c0065t0001g0259 a0038c0065t0001g0262 a0054c0042t0001g0006 a0054c0042t0001g0008 a0058c0166t0001g0371 a0069c0082t0019g0330 a0071c0079t0002g0264 a0084c0119t0013g0279 a0085c0113t0022g0080 a0097c0107t0001g0147 a0112c0131t0002g0176 a0113c0197t0004g0193 a0119c0150t0001g0281 a0120c0165t0001g0219 a0123c0087t0002g0007 a0124c0145t0001g0069 a0125c0144t0025g0156 a0127c0170t0030g0270	59	400	0.1475	-22	c.165 others(39): Show c.1657+378_1657+399delGGGTGTGGCCTGGAGCCCGAGA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42110078	GGTGTGGC others(15): Show GGTGTGGCCTGGAGCCCGAGACA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0209 a0004c0006t0002g0209	1	400	0.0025	-22	c.165 others(39): Show c.1657+386_1657+407delCCTGGAGCCCGAGACAGTGTGG	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42122590	TGTGCATG others(15): Show TGTGCATGTGTGTGCATCTCTGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp1 HG02647.hp2 others(6): Show HG01884.hp2 HG02622.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG03225.hp2 HG03579.hp1 NA21309.hp1	a0002 a0012 a0017 others(5): Show a0002 a0012 a0017 a0026 a0035 a0061 a0079 a0081	a0002c0129 a0012c0062 a0017c0057 others(5): Show a0002c0129 a0012c0062 a0017c0057 a0026c0106 a0035c0035 a0061c0167 a0079c0120 a0081c0114	a0002c0129t0001 a0012c0062t0001 a0017c0057t0001 others(5): Show a0002c0129t0001 a0012c0062t0001 a0017c0057t0001 a0026c0106t0001 a0035c0035t0001 a0061c0167t0001 a0079c0120t0001 a0081c0114t0001	a0002c0129t0001g0276 a0012c0062t0001g0369 a0017c0057t0001g0366 others(6): Show a0002c0129t0001g0276 a0012c0062t0001g0369 a0017c0057t0001g0366 a0017c0057t0001g0386 a0026c0106t0001g0221 a0035c0035t0001g0280 a0061c0167t0001g0042 a0079c0120t0001g0367 a0081c0114t0001g0151	9	400	0.0225	-22	c.282 others(39): Show c.2828-224_2828-203delCTCTGCGTGCATGTGTGTGCAT	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC13B_chr9_35157009_35410335	35380975	GTCCTTGG others(15): Show GTCCTTGGGTTGGCCCCTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0062 a0001c0023t0001g0062	1	224	0.0045	-22	c.103 others(40): Show c.10376-104_10376-83delTTTCCTTGGGTTGGCCCCTTCT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54172703	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01169.hp1 HG03540.hp1 others(3): Show HG00099.hp1 HG01169.hp1 HG03540.hp1 HG04199.hp1 NA18991.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0001t0032 a0001c0002t0034 others(3): Show a0001c0001t0002 a0001c0001t0032 a0001c0002t0034 a0001c0003t0002 a0001c0003t0003 a0001c0007t0001	a0001c0001t0002g0144 a0001c0001t0032g0099 a0001c0002t0034g0079 others(3): Show a0001c0001t0002g0144 a0001c0001t0032g0099 a0001c0002t0034g0079 a0001c0003t0002g0088 a0001c0003t0003g0103 a0001c0007t0001g0029	6	158	0.0380	-22	c.307 others(43): Show c.3071+29056_3071+29077delATATATATATATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5B_chr10_71207570_71307864	71224364	GACACACA others(15): Show GACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0003 a0001c0027t0003	a0001c0027t0003g0262 a0001c0027t0003g0262	1	368	0.0027	-22	c.79+ others(39): Show c.79+11331_79+11352delACACACACACACACACACACAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5C_chr4_95157504_95553973	95526780	CTGTATTT others(15): Show CTGTATTTCTATGAAACTACTCA	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03704.hp2 HG02698.hp2 HG03704.hp2	a0001 a0009 a0001 a0009	a0001c0005 a0009c0039 a0001c0005 a0009c0039	a0001c0005t0001 a0009c0039t0001 a0001c0005t0001 a0009c0039t0001	a0001c0005t0001g0023 a0009c0039t0001g0117 a0001c0005t0001g0023 a0009c0039t0001g0117	2	204	0.0098	-22	c.124 others(41): Show c.124+21932_124+21953delTGAGTAGTTTCATAGAAATACA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35300446	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03471.hp2 HG02615.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0003	a0001c0002t0001g0021 a0001c0003t0003g0022 a0001c0002t0001g0021 a0001c0003t0003g0022	2	64	0.0313	-22	c.103 others(41): Show c.103+64586_103+64607delAAAAAAAAAAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35538395	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG03225.hp1 HG01928.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0015 a0001c0001t0006 a0001c0002t0015	a0001c0001t0006g0010 a0001c0002t0015g0043 a0001c0001t0006g0010 a0001c0002t0015g0043	2	64	0.0313	-22	c.104 others(41): Show c.104-10873_104-10852delATATATATATATATATATATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35657076	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0064 a0001c0001t0010g0064	1	64	0.0156	-22	c.571 others(41): Show c.571-26469_571-26448delGTGTATATATATATATATATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC79_chr14_93425939_93712876	93558593	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0186 a0001c0002t0001g0186	1	193	0.0052	-22	c.175 others(43): Show c.1756-13278_1756-13257delTTTTTTTTTTTTTTTTTTTTTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	14/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93660520	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0188 a0001c0016t0001g0188	1	193	0.0052	-22	c.685 others(41): Show c.6858+1282_6858+1303delATATATATATATATATATATAT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	42/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93660553	ATATATAT others(15): Show ATATATATATATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0001 a0001c0019t0001g0001	1	193	0.0052	-22	c.685 others(41): Show c.6858+1294_6858+1315delATATATATATGTGTGTGTGTGT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	42/51		INFO_REALIGN_3_PRIME	chr14	TogoVar

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