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
VTI1A_chr10_112442215_112823744	112733773	A A	ATTTTATT others(18): Show ATTTTATTTTATTTTATTTTATTTTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03471.hp1 NA19240.hp1 HG02622.hp2 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0133 a0001c0001t0006g0004 a0001c0001t0006g0132 a0001c0001t0001g0133 a0001c0001t0006g0004 a0001c0001t0006g0132	3	168	0.0179	25	c.560 others(44): Show c.560+64775_560+64776insTTTTATTTTATTTTATTTTATTTTG	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	7/7			chr10	TogoVar
VWA5B1_chr1_20285875_20364518	20332479	C C	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02293.hp2 HG02630.hp1 HG00323.hp2 HG02293.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0059 a0001c0001t0002 a0001c0001t0003 a0001c0001t0059	a0001c0001t0002g0220 a0001c0001t0003g0243 a0001c0001t0059g0130 a0001c0001t0002g0220 a0001c0001t0003g0243 a0001c0001t0059g0130	3	328	0.0092	25	c.157 others(42): Show c.1573-241_1573-217dupAAAATAAAATAAAATAAAATAAAAT	VWA5B1	ENSG00000158816.16	transcript	ENST00000289815.13	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
VWA8_chr13_41561835_41966109	41571328	G G	GTCTCCCT others(18): Show GTCTCCCTCTCCCTCTCCCGTCTCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02486.hp2 others(2): Show HG02109.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG03579.hp1	a0005 a0006 a0005 a0006	a0005c0005 a0006c0007 a0005c0005 a0006c0007	a0005c0005t0005 a0006c0007t0001 a0006c0007t0010 a0005c0005t0005 a0006c0007t0001 a0006c0007t0010	a0005c0005t0005g0001 a0005c0005t0005g0004 a0006c0007t0001g0137 others(2): Show a0005c0005t0005g0001 a0005c0005t0005g0004 a0006c0007t0001g0137 a0006c0007t0001g0138 a0006c0007t0010g0154	5	250	0.0200	25	c.537 others(42): Show c.5371-647_5371-623dupGGGAGACGGGAGAGGGAGAGGGAGA	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	43/44			chr13	TogoVar
VWA8_chr13_41561835_41966109	41841820	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19090.hp1 NA19060.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0234 a0001c0001t0001g0239	2	250	0.0080	25	c.142 others(44): Show c.1426-8290_1426-8289insATATATTTTTTTTTTTTTTTTTTTT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	12/44			chr13	TogoVar
VWA8_chr13_41561835_41966109	41841820	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	250	0.0040	25	c.142 others(44): Show c.1426-8290_1426-8289insATATATATTTTTTTTTTTTTTTTTT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	12/44			chr13	TogoVar
VWC2_chr7_49768638_49926950	49877481	A A	AAAAAAAT others(18): Show AAAAAAATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02818.hp1 HG02280.hp2 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0050 a0002c0002t0003g0093 a0002c0002t0003g0050 a0002c0002t0003g0093	2	256	0.0078	25	c.827 others(44): Show c.827-34552_827-34551insAAAAATATACATATATATATATATA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VWC2_chr7_49768638_49926950	49877481	A A	AAAAATAT others(18): Show AAAAATATACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	256	0.0039	25	c.827 others(44): Show c.827-34552_827-34551insAAATATACATATATATATATATATA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
WAC_chr10_28528118_28628112	28626049	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0270 a0001c0001t0018g0270	1	322	0.0031	25	c.64 others(36): Show c.6443_*6444insTTTTTTTTTTTTTTTTTTTTTTTTT	WAC	ENSG00000095787.26	transcript	ENST00000354911.9	protein_coding		2938		chr10	TogoVar
WARS1_chr14_100328790_100380347	100371447	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01069.hp2 others(19): Show HG00099.hp2 HG00738.hp2 HG01069.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02273.hp2 HG03490.hp1 HG03490.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp2 HG04228.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA19080.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0142 a0001c0001t0001g0143 others(17): Show a0001c0001t0001g0008 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0287 a0001c0001t0001g0289	22	338	0.0651	25	c.-73 others(42): Show c.-73-2190_-73-2189insTTTTTTTTTTTTTTTTTTTTTTTTT	WARS1	ENSG00000140105.18	transcript	ENST00000392882.7	protein_coding	1/10			chr14	TogoVar
WASF2_chr1_27399230_27495167	27454187	A A	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0015 a0001c0002t0024g0015	1	260	0.0039	25	c.-43 others(44): Show c.-43-25255_-43-25254insAAAAAAAAAAAAAAAAATATATATA	WASF2	ENSG00000158195.11	transcript	ENST00000618852.5	protein_coding	1/8			chr1	TogoVar
WASF3_chr13_26552683_26693948	26562857	T T	TCCTCCCC others(18): Show TCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02080.hp1 HG02523.hp1 others(1): Show HG00423.hp1 HG02080.hp1 HG02523.hp1 HG03927.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0045 a0002c0003t0003g0046 a0002c0003t0003g0047 others(1): Show a0002c0003t0003g0045 a0002c0003t0003g0046 a0002c0003t0003g0047 a0002c0003t0003g0048	4	294	0.0136	25	c.-10 others(44): Show c.-109+5048_-109+5049insCCTCCCCTCCCCTCCCCTCCCCTCC	WASF3	ENSG00000132970.14	transcript	ENST00000335327.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
WBP1L_chr10_102738948_102821262	102768371	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0170 a0002c0002t0010g0170	1	360	0.0028	25	c.90+ others(42): Show c.90+24229_90+24253dupTTTTTTTTTTTTTTTTTTTTTTTTT	WBP1L	ENSG00000166272.18	transcript	ENST00000448841.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
WBP2NL_chr22_41993788_42033475	42008088	C C	CTTCCTTT others(18): Show CTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02040.hp2 HG02080.hp1 others(7): Show HG00544.hp1 HG02040.hp2 HG02080.hp1 HG02083.hp2 HG03017.hp1 HG03834.hp1 NA18959.hp1 NA18961.hp2 NA19011.hp2 NA19084.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0002 a0001c0001t0001 a0006c0006t0002	a0001c0001t0001g0172 a0001c0001t0001g0242 a0001c0001t0001g0243 others(7): Show a0001c0001t0001g0172 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0335 a0006c0006t0002g0313	10	388	0.0258	25	c.62+ others(40): Show c.62+9216_62+9240dupCCTTTCCTTTCCTTTCCTTTCCTTT	WBP2NL	ENSG00000183066.14	transcript	ENST00000328823.13	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
WBP2NL_chr22_41993788_42033475	42008101	C C	CCTTTCCT others(18): Show CCTTTCCTTTCCTTTCCTTTCCTTTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0043 a0003c0003t0002g0043	1	388	0.0026	25	c.62+ others(40): Show c.62+9240_62+9241insCCTTTGCTTTCCTTTCCTTTCCTTT	WBP2NL	ENSG00000183066.14	transcript	ENST00000328823.13	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
WBP2NL_chr22_41993788_42033475	42008121	G G	GCTTTCCT others(18): Show GCTTTCCTTTCCTTTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0103 a0005c0005t0003g0103	1	388	0.0026	25	c.62+ others(40): Show c.62+9267_62+9291dupCTTTCCTTTCCTTTCCTTTCCTTTC	WBP2NL	ENSG00000183066.14	transcript	ENST00000328823.13	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
WBP2NL_chr22_41993788_42033475	42008126	C C	CCTTTCCT others(18): Show CCTTTCCTTTCCTTTCCTTTCCTTTG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	388	0.0026	25	c.62+ others(40): Show c.62+9270_62+9271insGCTTTCCTTTCCTTTCCTTTCCTTT	WBP2NL	ENSG00000183066.14	transcript	ENST00000328823.13	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
WDFY1_chr2_223870348_223950335	223896155	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01169.hp1 HG03491.hp2 others(1): Show HG00642.hp2 HG01169.hp1 HG03491.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0020 a0001c0001t0002g0109 a0001c0001t0002g0257 others(1): Show a0001c0001t0002g0020 a0001c0001t0002g0109 a0001c0001t0002g0257 a0001c0001t0009g0054	4	380	0.0105	25	c.599 others(40): Show c.599-550_599-526dupTTTTTTTTTTTTTTTTTTTTTTTTT	WDFY1	ENSG00000085449.15	transcript	ENST00000233055.9	protein_coding	6/11			chr2	TogoVar
WDFY4_chr10_48679873_48987956	48867171	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03516.hp1 HG06807.hp1 others(1): Show HG00642.hp2 HG03516.hp1 HG06807.hp1 NA18952.hp1	a0016 a0063 a0077 others(1): Show a0016 a0063 a0077 a0084	a0016c0023 a0063c0076 a0077c0071 others(1): Show a0016c0023 a0063c0076 a0077c0071 a0084c0096	a0016c0023t0001 a0063c0076t0002 a0077c0071t0003 others(1): Show a0016c0023t0001 a0063c0076t0002 a0077c0071t0003 a0084c0096t0001	a0016c0023t0001g0094 a0063c0076t0002g0147 a0077c0071t0003g0166 others(1): Show a0016c0023t0001g0094 a0063c0076t0002g0147 a0077c0071t0003g0166 a0084c0096t0001g0175	4	202	0.0198	25	c.666 others(40): Show c.6664-68_6664-44dupAAAATAAAATAAAATAAAATAAAAT	WDFY4	ENSG00000128815.20	transcript	ENST00000325239.12	protein_coding	39/61		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDFY4_chr10_48679873_48987956	48974502	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0016 a0016	a0016c0086 a0016c0086	a0016c0086t0002 a0016c0086t0002	a0016c0086t0002g0165 a0016c0086t0002g0165	1	202	0.0050	25	c.892 others(42): Show c.8929-357_8929-333dupAAAAAAAAAAAAAAAAAAAAAAAAA	WDFY4	ENSG00000128815.20	transcript	ENST00000325239.12	protein_coding	57/61		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDFY4_chr10_48679873_48987956	48974527	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAACAAAACAAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03139.hp1 HG03516.hp2 HG02886.hp1 HG03139.hp1 HG03516.hp2	a0027 a0053 a0069 a0027 a0053 a0069	a0027c0084 a0053c0122 a0069c0037 a0027c0084 a0053c0122 a0069c0037	a0027c0084t0006 a0053c0122t0005 a0069c0037t0005 a0027c0084t0006 a0053c0122t0005 a0069c0037t0005	a0027c0084t0006g0096 a0053c0122t0005g0149 a0069c0037t0005g0002 a0027c0084t0006g0096 a0053c0122t0005g0149 a0069c0037t0005g0002	3	202	0.0149	25	c.892 others(42): Show c.8929-333_8929-332insAAAAAAAAAAAAAACAAAACAACAA	WDFY4	ENSG00000128815.20	transcript	ENST00000325239.12	protein_coding	57/61		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDPCP_chr2_63114559_63593477	63572701	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03195.hp1 HG03654.hp1 others(1): Show HG02257.hp1 HG03195.hp1 HG03654.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0025	a0001c0001t0001g0214 a0001c0001t0003g0202 a0001c0001t0011g0196 others(1): Show a0001c0001t0001g0214 a0001c0001t0003g0202 a0001c0001t0011g0196 a0001c0001t0025g0001	4	216	0.0185	25	c.75+ others(42): Show c.75+15471_75+15495dupTTTTTTTTTTTTTTTTTTTTTTTTT	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575335	G G	GGTATATA others(18): Show GGTATATACTGTATATGGTATATACA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01257.hp1 HG01258.hp1 others(13): Show HG00597.hp2 HG01257.hp1 HG01258.hp1 HG01934.hp2 HG02015.hp2 HG02145.hp2 NA18941.hp2 NA18949.hp2 NA18954.hp1 NA18960.hp2 NA18963.hp1 NA18992.hp2 NA18998.hp2 NA19065.hp2 NA19079.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(13): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0012g0011	16	216	0.0741	25	c.75+ others(42): Show c.75+12837_75+12861dupTGTATATACCATATACAGTATATAC	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDR18_chr19_979345_999557	987829	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19010.hp1 NA19007.hp2 NA19010.hp1	a0003 a0006 a0003 a0006	a0003c0004 a0006c0016 a0003c0004 a0006c0016	a0003c0004t0001 a0006c0016t0001 a0003c0004t0001 a0006c0016t0001	a0003c0004t0001g0047 a0006c0016t0001g0047 a0003c0004t0001g0047 a0006c0016t0001g0047	2	456	0.0044	25	c.321 others(42): Show c.321+1877_321+1878insTTTTTTTTTTTTTTTTTTTTTTTTT	WDR18	ENSG00000065268.11	transcript	ENST00000585809.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
WDR19_chr4_39177529_39290810	39281263	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	294	0.0034	25	c.13 others(42): Show c.13+2600_*13+2601insGAGAGAGAGAGAGAGAGAGAGAGAG	WDR19	ENSG00000157796.18	transcript	ENST00000399820.8	protein_coding	36/36			chr4	TogoVar
WDR20_chr14_102134897_102215527	102161142	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19012.hp1 NA19086.hp1 HG02622.hp1 NA19012.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0076 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0076	3	264	0.0114	25	c.249 others(44): Show c.249+20971_249+20972insATATATATATATATATATATATATT	WDR20	ENSG00000140153.18	transcript	ENST00000342702.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR20_chr14_102134897_102215527	102161142	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	264	0.0038	25	c.249 others(44): Show c.249+20971_249+20972insATATATATATATATATATATATTTT	WDR20	ENSG00000140153.18	transcript	ENST00000342702.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR20_chr14_102134897_102215527	102161142	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02486.hp2 HG01515.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0130 a0001c0001t0001g0038 a0001c0001t0001g0130	2	264	0.0076	25	c.249 others(44): Show c.249+20971_249+20972insATATATATATATATATATATTTTTT	WDR20	ENSG00000140153.18	transcript	ENST00000342702.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR20_chr14_102134897_102215527	102161142	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA19043.hp1 HG02896.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0242 a0001c0002t0001g0074 a0001c0002t0001g0242	2	264	0.0076	25	c.249 others(44): Show c.249+20971_249+20972insATATATATATATATATATTTTTTTT	WDR20	ENSG00000140153.18	transcript	ENST00000342702.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR20_chr14_102134897_102215527	102161142	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	264	0.0038	25	c.249 others(44): Show c.249+20971_249+20972insATATATATATATATATTTTTTTTTT	WDR20	ENSG00000140153.18	transcript	ENST00000342702.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR20_chr14_102134897_102215527	102161143	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	264	0.0038	25	c.249 others(44): Show c.249+20971_249+20972insATATATATATATATATATATATATA	WDR20	ENSG00000140153.18	transcript	ENST00000342702.8	protein_coding	1/2			chr14	TogoVar
WDR26_chr1_224380146_224439797	224407151	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03710.hp1 NA21309.hp2 HG02683.hp1 HG03710.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001	a0001c0001t0004g0097 a0001c0001t0005g0073 a0001c0002t0001g0142 a0001c0001t0004g0097 a0001c0001t0005g0073 a0001c0002t0001g0142	3	252	0.0119	25	c.145 others(44): Show c.1459-2582_1459-2581insATATATATATATATATATATTTTTT	WDR26	ENSG00000162923.18	transcript	ENST00000414423.9	protein_coding	7/13		WARNING_TRANSCRIPT_NO_START_CODON	chr1	TogoVar
WDR26_chr1_224380146_224439797	224407151	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	252	0.0040	25	c.145 others(44): Show c.1459-2582_1459-2581insATATATATATATATATATATATTTT	WDR26	ENSG00000162923.18	transcript	ENST00000414423.9	protein_coding	7/13		WARNING_TRANSCRIPT_NO_START_CODON	chr1	TogoVar
WDR26_chr1_224380146_224439797	224407151	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02622.hp1 HG02698.hp1 HG00621.hp2 HG02622.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0011 a0001c0002t0025 a0001c0001t0004 a0001c0001t0011 a0001c0002t0025	a0001c0001t0004g0093 a0001c0001t0011g0216 a0001c0002t0025g0167 a0001c0001t0004g0093 a0001c0001t0011g0216 a0001c0002t0025g0167	3	252	0.0119	25	c.145 others(44): Show c.1459-2582_1459-2581insATATATATATATATATATATATATT	WDR26	ENSG00000162923.18	transcript	ENST00000414423.9	protein_coding	7/13		WARNING_TRANSCRIPT_NO_START_CODON	chr1	TogoVar
WDR26_chr1_224380146_224439797	224407151	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA19057.hp2 HG03490.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0117 a0001c0002t0001g0147 a0001c0001t0001g0117 a0001c0002t0001g0147	2	252	0.0079	25	c.145 others(44): Show c.1459-2582_1459-2581insATATATATATATATATATATATATA	WDR26	ENSG00000162923.18	transcript	ENST00000414423.9	protein_coding	7/13		WARNING_TRANSCRIPT_NO_START_CODON	chr1	TogoVar
WDR27_chr6_169452212_169707029	169577448	G G	GGGAGATG others(18): Show GGGAGATGGTTCTGGATGTCCCAGGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0004 a0006c0005t0004	a0006c0005t0004g0007 a0006c0005t0004g0007	1	294	0.0034	25	c.252 others(44): Show c.2524-4933_2524-4909dupACCTGGGACATCCAGAACCATCTCC	WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding	24/25			chr6	TogoVar
WDR33_chr2_127696027_127816171	127700138	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0139 a0001c0001t0013g0139	1	318	0.0031	25	c.61 others(36): Show c.6184_*6185insATATATATATATATATATATATATA	WDR33	ENSG00000136709.12	transcript	ENST00000322313.9	protein_coding		888		chr2	TogoVar
WDR33_chr2_127696027_127816171	127711780	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	318	0.0031	25	c.330 others(44): Show c.3308+1802_3308+1803insAAAAAAAAAAAAAAATATATATATA	WDR33	ENSG00000136709.12	transcript	ENST00000322313.9	protein_coding	18/21			chr2	TogoVar
WDR37_chr10_1051385_1137372	1069389	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03486.hp2 NA18969.hp2 others(1): Show HG01081.hp1 HG03486.hp2 NA18969.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0052 a0001c0001t0005 a0001c0001t0016 a0001c0001t0052	a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0016g0028 others(1): Show a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0016g0028 a0001c0001t0052g0039	4	362	0.0111	25	c.-40 others(42): Show c.-40-2726_-40-2725insATATATATATATTTTTTTTTTTTTT	WDR37	ENSG00000047056.18	transcript	ENST00000263150.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR37_chr10_1051385_1137372	1069389	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0014 a0001c0001t0010g0014	1	362	0.0028	25	c.-40 others(42): Show c.-40-2726_-40-2725insATATATATATTTTTTTTTTTTTTTT	WDR37	ENSG00000047056.18	transcript	ENST00000263150.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR37_chr10_1051385_1137372	1069389	A A	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0031 a0001c0001t0024g0031	1	362	0.0028	25	c.-40 others(42): Show c.-40-2726_-40-2725insATATATATTTTTTTTTTTTTTTTTT	WDR37	ENSG00000047056.18	transcript	ENST00000263150.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR37_chr10_1051385_1137372	1092872	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0020 a0001c0001t0016g0020	1	362	0.0028	25	c.605 others(40): Show c.605-578_605-554dupAAAAAAAAAAAAAAAAAAAAAAAAA	WDR37	ENSG00000047056.18	transcript	ENST00000263150.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR44_chrX_118341106_118454961	118352352	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	293	0.0034	25	c.77+ others(40): Show c.77+5773_77+5774insATATATATATATATATATATATATT	WDR44	ENSG00000131725.14	transcript	ENST00000254029.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chrX	TogoVar
WDR44_chrX_118341106_118454961	118352352	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19009.hp1 HG02155.hp1 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0220 a0001c0003t0003g0221 a0001c0003t0003g0220 a0001c0003t0003g0221	2	293	0.0068	25	c.77+ others(40): Show c.77+5773_77+5774insATATATATATTTTTTTTTTTTTTTT	WDR44	ENSG00000131725.14	transcript	ENST00000254029.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chrX	TogoVar
WDR44_chrX_118341106_118454961	118452489	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02155.hp1 NA18987.hp1 others(3): Show HG00423.hp1 HG02155.hp1 NA18987.hp1 NA19009.hp1 NA19079.hp1 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0208 a0001c0003t0003g0212 a0001c0003t0003g0220 others(3): Show a0001c0003t0003g0208 a0001c0003t0003g0212 a0001c0003t0003g0220 a0001c0003t0003g0221 a0001c0003t0003g0223 a0001c0003t0003g0238	6	293	0.0205	25	c.35 others(36): Show c.3502_*3503insAAAAAAAAAAAAAAAAAAAAAAAAA	WDR44	ENSG00000131725.14	transcript	ENST00000254029.8	protein_coding		2529		chrX	TogoVar
WDR45B_chr17_82609562_82653444	82638230	A A	AGGAGGGG others(18): Show AGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02080.hp1 HG02622.hp1 others(5): Show HG00544.hp2 HG02080.hp1 HG02622.hp1 HG02647.hp1 HG03041.hp2 HG03710.hp1 HG04199.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0234 a0001c0001t0003g0253 a0001c0001t0003g0254 others(5): Show a0001c0001t0001g0234 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0308 a0001c0001t0004g0110 a0001c0001t0005g0242	8	382	0.0209	25	c.142 others(42): Show c.142+5694_142+5718dupCCTCCCCTCCCCTCCCCTCCCCTCC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	2/9			chr17	TogoVar
WDR45B_chr17_82609562_82653444	82648836	C C	CGGGGCGG others(18): Show CGGGGCGGGGAGGAGGGGGAGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0119 a0001c0001t0016g0119	1	382	0.0026	25	c.-49 others(34): Show c.-497_-496insCGCCCCTCCCCCTCCTCCCCGCCCC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding		393		chr17	TogoVar
WDR45B_chr17_82609562_82653444	82648860	C C	CGGGGCGG others(18): Show CGGGGCGGGGAGGAGGGGGAGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0122	1	382	0.0026	25	c.-52 others(34): Show c.-521_-520insCGCCCCTCCCCCTCCTCCCCGCCCC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding		417		chr17	TogoVar
WDR45B_chr17_82609562_82653444	82648870	A A	AGGAGGGG others(18): Show AGGAGGGGGAGGGGCGGGGCGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0106 a0001c0001t0004g0106	1	382	0.0026	25	c.-53 others(34): Show c.-531_-530insCTCCCCGCCCCGCCCCTCCCCCTCC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding		427		chr17	TogoVar
WDR49_chr3_167473684_167658942	167528528	T T	TAAATAAA others(18): Show TAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03209.hp1 NA18906.hp2 HG02109.hp2 HG03209.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 a0001c0001t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0001g0098 a0001c0001t0003g0099 a0002c0003t0001g0020 a0001c0001t0001g0098 a0001c0001t0003g0099 a0002c0003t0001g0020	3	210	0.0143	25	c.240 others(42): Show c.2406+499_2407-512dupTATTTTATTTTATTTTATTTTATTT	WDR49	ENSG00000174776.12	transcript	ENST00000682715.1	protein_coding	14/18			chr3	TogoVar
WDR49_chr3_167473684_167658942	167545509	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02257.hp2 HG02886.hp2 others(4): Show HG01258.hp2 HG02257.hp2 HG02886.hp2 HG03041.hp1 NA19072.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0045 a0001c0001t0001g0063 a0001c0001t0001g0096 others(4): Show a0001c0001t0001g0045 a0001c0001t0001g0063 a0001c0001t0001g0096 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0083 a0002c0002t0002g0206	7	210	0.0333	25	c.182 others(44): Show c.1824-8510_1824-8509insTATATATATATATATATATATATAT	WDR49	ENSG00000174776.12	transcript	ENST00000682715.1	protein_coding	10/18			chr3	TogoVar

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