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
USF2_chr19_35263962_35284821	35280681	GGGGTCTC others(26): Show GGGGTCTCGCTTTGTTACCCAGGCTGTGACAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	426	0.0024	-33	c.14 others(44): Show c.1426_*1458delGGGTCTCGCTTTGTTACCCAGGCTGTGACAAGA	USF2	ENSG00000105698.16	transcript	ENST00000222305.8	protein_coding		861		chr19	TogoVar
USP10_chr16_84695000_84784922	84697677	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01516.hp2 HG01517.hp1 HG01192.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0408 a0001c0006t0001g0409 a0001c0006t0001g0418 a0001c0006t0001g0408 a0001c0006t0001g0409 a0001c0006t0001g0418	3	430	0.0070	-33	c.-24 others(44): Show c.-2413_-2381delTATATATATATATATATATATATATATATATGT	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding		2322		chr16	TogoVar
USP16_chr21_29019668_29059488	29057702	CATATATA others(26): Show CATATATAATATATATCATACATATATGTATGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG03486.hp1 HG02145.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0069 a0001c0001t0001g0070	2	426	0.0047	-33	c.35 others(44): Show c.3516_*3548delATATATAATATATATCATACATATATGTATGAT	USP16	ENSG00000156256.15	transcript	ENST00000399976.7	protein_coding		3215		chr21	TogoVar
USP18_chr22_18145170_18182397	18172561	TTTTTTCA others(26): Show TTTTTTCATATGCCAGCACTGGCTGGTTGATATC	T T	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	376	0.0027	-33	c.892 others(48): Show c.892-584_892-552delTCATATGCCAGCACTGGCTGGTTGATATCT TTT	USP18	ENSG00000184979.11	transcript	ENST00000215794.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
USP46_chr4_52585960_52664301	52632977	AAAGAAAG others(26): Show AAAGAAAGAAAAGAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0156 a0001c0001t0008g0156	1	192	0.0052	-33	c.37- others(48): Show c.37-1866_37-1834delCTTTCTTTCTTTCTTTCTTTTCTTTTCTTT CTT	USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8			chr4	TogoVar
UTP20_chr12_101275105_101391618	101340937	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02572.hp1 HG01243.hp2 HG02055.hp2 HG02572.hp1	a0001 a0014 a0001 a0014	a0001c0023 a0014c0024 a0001c0023 a0014c0024	a0001c0023t0001 a0014c0024t0001 a0001c0023t0001 a0014c0024t0001	a0001c0023t0001g0180 a0001c0023t0001g0181 a0014c0024t0001g0007 a0001c0023t0001g0180 a0001c0023t0001g0181 a0014c0024t0001g0007	3	356	0.0084	-33	c.410 others(50): Show c.4101+350_4101+382delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	32/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UVRAG_chr11_75810210_76149232	75828770	TATATACA others(26): Show TATATACACACATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02615.hp2 HG02055.hp1 HG02280.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 a0001c0001t0001 a0001c0001t0008 a0001c0001t0020	a0001c0001t0001g0002 a0001c0001t0008g0001 a0001c0001t0020g0003 a0001c0001t0001g0002 a0001c0001t0008g0001 a0001c0001t0020g0003	3	146	0.0206	-33	c.117 others(52): Show c.117+13247_117+13279delATATACACACATATATATATATATAT ATATATA	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	1/14			chr11	TogoVar
UVRAG_chr11_75810210_76149232	75828773	ATACACAC others(26): Show ATACACACATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0088 a0002c0003t0001g0088	1	146	0.0069	-33	c.117 others(52): Show c.117+13251_117+13283delACACACATATATATATATATATATAT ATATATT	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
VCX2_chrX_8164944_8176267	8169117	TCTCCCTC others(26): Show TCTCCCTCCCCACACACCACCTCTTCCTCCCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02027.hp1 HG02083.hp1 others(7): Show HG01167.hp1 HG02027.hp1 HG02083.hp1 HG02129.hp1 HG02165.hp2 HG02559.hp2 HG02965.hp1 NA18949.hp1 NA19004.hp1 NA19076.hp1	a0003 a0003	a0003c0003 a0003c0009 a0003c0014 a0003c0003 a0003c0009 a0003c0014	a0003c0003t0001 a0003c0009t0001 a0003c0014t0001 a0003c0003t0001 a0003c0009t0001 a0003c0014t0001	a0003c0003t0001g0002 a0003c0009t0001g0017 a0003c0014t0001g0048 a0003c0003t0001g0002 a0003c0009t0001g0017 a0003c0014t0001g0048	10	115	0.0870	-33	c.88 others(42): Show c.882_*914delGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		826		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169862	TCCCTCCC others(26): Show TCCCTCCCTCCCTCACCACACACCACCTCTTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02559.hp2 NA18949.hp1 HG02027.hp1 HG02559.hp2 NA18949.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	3	115	0.0261	-33	c.13 others(42): Show c.137_*169delGGGAAGAGGTGGTGTGTGGTGAGGGAGGGAGGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		81		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533459	ACACCTCT others(26): Show ACACCTCTTCCTCCCTCCCTCCCTCCCCACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0022 a0008c0010t0001g0022	1	74	0.0135	-33	c.25 others(42): Show c.253_*285delGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		158		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466987	GAGAGGTG others(26): Show GAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19090.hp2 NA19011.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	2	271	0.0074	-33	c.60 others(42): Show c.605_*637delAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		478		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467304	AGGGAGGG others(26): Show AGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0039 a0039	a0039c0054 a0039c0054	a0039c0054t0005 a0039c0054t0005	a0039c0054t0005g0005 a0039c0054t0005g0005	1	271	0.0037	-33	c.92 others(42): Show c.922_*954delGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		795		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467350	GGAAGAGG others(26): Show GGAAGAGGTGGTGTGTGGGGAGGGAGAAAGGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG03239.hp2 HG02723.hp2 HG03239.hp2	a0011 a0054 a0011 a0054	a0011c0028 a0054c0066 a0011c0028 a0054c0066	a0011c0028t0021 a0054c0066t0001 a0011c0028t0021 a0054c0066t0001	a0011c0028t0021g0002 a0054c0066t0001g0027 a0011c0028t0021g0002 a0054c0066t0001g0027	2	271	0.0074	-33	c.96 others(43): Show c.968_*1000delGAAGAGGTGGTGTGTGGGGAGGGAGAAAGGAAA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		841		chrX	TogoVar
VDR_chr12_47836537_47909994	47907257	TTCCATCA others(26): Show TTCCATCAGGCTTTTCCAACATCTCCAGGAAAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0266 a0001c0001t0004g0266	1	358	0.0028	-33	c.-24 others(44): Show c.-2419_-2387delCCTTTCCTGGAGATGTTGGAAAAGCCTGATGGA	VDR	ENSG00000111424.12	transcript	ENST00000549336.6	protein_coding		2264		chr12	TogoVar
VGLL4_chr3_11551069_11648915	11573307	GGAAGGAA others(26): Show GGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0360 a0001c0001t0002g0360	1	388	0.0026	-33	c.273 others(50): Show c.273-8321_273-8289delTCTTTCTTTCTTTCTTTCTTTCTTCCTT CCTTC	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VIPR1_chr3_42497643_42542568	42538652	GCTGGGGC others(26): Show GCTGGGGCATCTAGAACTTCTTTCATTCTTCCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0004	1	412	0.0024	-33	c.23 others(44): Show c.2372_*2404delCTGGGGCATCTAGAACTTCTTTCATTCTTCCCT	VIPR1	ENSG00000114812.13	transcript	ENST00000325123.5	protein_coding		1085		chr3	TogoVar
VIPR2_chr7_159023175_159149867	159093693	GATGGGAG others(26): Show GATGGGAGACCCCGCAGCGTCCCTGGGTCCGGAC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00738.hp1 others(55): Show HG00408.hp1 HG00544.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01517.hp2 HG01993.hp2 HG02027.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02293.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp1 HG03195.hp2 HG03654.hp2 HG03669.hp2 HG03834.hp2 NA18747.hp2 NA18941.hp2 NA18946.hp1 NA18947.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18966.hp1 NA18971.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18995.hp1 NA19002.hp1 NA19004.hp2 NA19009.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19065.hp1 NA19080.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0001c0020 a0001c0021 a0001c0023 a0005c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0029 a0001c0001t0045 a0001c0001t0054 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0014 a0001c0003t0017 a0001c0003t0020 a0001c0003t0027 a0001c0003t0035 a0001c0003t0039 a0001c0003t0046 a0001c0006t0002 a0001c0006t0055 a0001c0020t0003 a0001c0021t0003 a0001c0023t0002 a0005c0022t0003	a0001c0001t0001g0099 a0001c0001t0001g0295 a0001c0001t0001g0296 others(55): Show a0001c0001t0001g0099 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0003g0102 a0001c0001t0021g0298 a0001c0001t0029g0065 a0001c0001t0045g0285 a0001c0001t0054g0303 a0001c0003t0001g0100 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0107 a0001c0003t0001g0125 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0196 a0001c0003t0003g0094 a0001c0003t0003g0095 a0001c0003t0003g0096 a0001c0003t0003g0109 a0001c0003t0003g0110 a0001c0003t0003g0114 a0001c0003t0003g0115 a0001c0003t0003g0118 a0001c0003t0003g0119 a0001c0003t0003g0122 a0001c0003t0003g0124 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0132 a0001c0003t0003g0134 a0001c0003t0003g0135 a0001c0003t0003g0136 a0001c0003t0003g0144 a0001c0003t0003g0261 a0001c0003t0004g0139 a0001c0003t0004g0140 a0001c0003t0004g0141 a0001c0003t0004g0142 a0001c0003t0014g0101 a0001c0003t0017g0126 a0001c0003t0017g0133 a0001c0003t0017g0231 a0001c0003t0020g0106 a0001c0003t0027g0108 a0001c0003t0035g0098 a0001c0003t0039g0112 a0001c0003t0046g0093 a0001c0006t0002g0092 a0001c0006t0002g0113 a0001c0006t0002g0319 a0001c0006t0055g0130 a0001c0020t0003g0121 a0001c0021t0003g0117 a0001c0023t0002g0123 a0005c0022t0003g0116	58	336	0.1726	-33	c.357 others(52): Show c.357+10031_357+10063delGTCCGGACCCAGGGACGCTGCGGGGT CTCCCAT	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VKORC1L1_chr7_65868074_65964558	65895473	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0190 a0001c0001t0022g0190	1	350	0.0029	-33	c.194 others(52): Show c.194+21910_194+21942delAAAAAAATATATATATATATATATAT ATATATA	VKORC1L1	ENSG00000196715.7	transcript	ENST00000360768.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS13B_chr8_99008274_99882580	99540031	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0122 a0001c0021t0001g0122	1	134	0.0075	-33	c.474 others(54): Show c.4746-16417_4746-16385delATATATATATATATATATATATAT ATATATATT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	30/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS26C_chr21_37218422_37272334	37221784	TTTCTTTT others(26): Show TTTCTTTTTTATTATTATACTTTAAGTTTTAGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	396	0.0025	-33	c.37 others(44): Show c.3727_*3759delCCCTAAAACTTAAAGTATAATAATAAAAAAGAA	VPS26C	ENSG00000157538.14	transcript	ENST00000309117.11	protein_coding		1637		chr21	TogoVar
VPS28_chr8_144418617_144433548	144421623	AGATTGCA others(26): Show AGATTGCAGTGAGCCGAGATCATGCCATTGCACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	-33	c.21 others(44): Show c.2149_*2181delAGTGCAATGGCATGATCTCGGCTCACTGCAATC	VPS28	ENSG00000160948.14	transcript	ENST00000292510.6	protein_coding		1993		chr8	TogoVar
VPS53_chr17_503668_719839	509093	GCTCACCC others(26): Show GCTCACCCCTCACTAGTCACATATCAAATCCTGT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG03516.hp2 HG02145.hp2 HG02572.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0049 a0001c0002t0078 a0001c0014t0135 a0001c0002t0049 a0001c0002t0078 a0001c0014t0135	a0001c0002t0049g0048 a0001c0002t0078g0041 a0001c0014t0135g0166 a0001c0002t0049g0048 a0001c0002t0078g0041 a0001c0014t0135g0166	3	232	0.0129	-33	c.10 others(46): Show c.10002_*10034delACAGGATTTGATATGTGACTAGTGAGGGGTGA G	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	10002		chr17	TogoVar
VPS53_chr17_503668_719839	509873	ACCCCTCA others(26): Show ACCCCTCACCAGTCACATATCAAATCCTGGCTCG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0143 a0001c0002t0143	a0001c0002t0143g0226 a0001c0002t0143g0226	1	232	0.0043	-33	c.92 others(44): Show c.9222_*9254delCGAGCCAGGATTTGATATGTGACTGGTGAGGGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	9222		chr17	TogoVar
VPS9D1_chr16_89702134_89725898	89717860	GCCCCGAC others(26): Show GCCCCGACCTCTGTGATCCCACGTCCAGGGGCTC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18994.hp1 NA19000.hp2 HG02970.hp1 NA18994.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0127 a0001c0001t0001g0151 a0001c0003t0002g0104 a0001c0001t0001g0127 a0001c0001t0001g0151 a0001c0003t0002g0104	3	430	0.0070	-33	c.176 others(50): Show c.176-1071_176-1039delGAGCCCCTGGACGTGGGATCACAGAGGT CGGGG	VPS9D1	ENSG00000075399.14	transcript	ENST00000389386.8	protein_coding	2/14			chr16	TogoVar
VPS9D1_chr16_89702134_89725898	89717888	GGGCTCCC others(26): Show GGGCTCCCCCGACCTCTGTGATCCCACGTCCAGT	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18962.hp1 HG03239.hp1 NA18962.hp1	a0002 a0011 a0002 a0011	a0002c0008 a0011c0014 a0002c0008 a0011c0014	a0002c0008t0001 a0011c0014t0001 a0002c0008t0001 a0011c0014t0001	a0002c0008t0001g0177 a0011c0014t0001g0144 a0002c0008t0001g0177 a0011c0014t0001g0144	2	430	0.0047	-33	c.176 others(50): Show c.176-1099_176-1067delACTGGACGTGGGATCACAGAGGTCGGGG GAGCC	VPS9D1	ENSG00000075399.14	transcript	ENST00000389386.8	protein_coding	2/14			chr16	TogoVar
VPS9D1_chr16_89702134_89725898	89717908	ATCCCACG others(26): Show ATCCCACGTCCAGTGGCTCCCCCGACCTCTGTGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp1 others(63): Show HG00099.hp1 HG00140.hp2 HG00423.hp1 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01978.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03486.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18956.hp2 NA18971.hp1 NA18971.hp2 NA18990.hp1 NA18999.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19043.hp1 NA19068.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0023	a0001c0001t0001 a0001c0002t0001 a0001c0003t0008 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0008 a0001c0004t0001 a0001c0005t0003 a0001c0006t0002 a0001c0023t0001	a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0039 others(35): Show a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0217 a0001c0002t0001g0004 a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0178 a0001c0002t0001g0199 a0001c0002t0001g0201 a0001c0002t0001g0224 a0001c0003t0008g0101 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0100 a0001c0005t0003g0222 a0001c0006t0002g0013 a0001c0006t0002g0028 a0001c0006t0002g0056 a0001c0006t0002g0057 a0001c0023t0001g0065	66	430	0.1535	-33	c.175 others(50): Show c.175+1086_176-1087delGCACAGAGGTCGGGGGAGCCACTGGACG TGGGA	VPS9D1	ENSG00000075399.14	transcript	ENST00000389386.8	protein_coding	2/14			chr16	TogoVar
VPS9D1_chr16_89702134_89725898	89718047	CGTCCAGT others(26): Show CGTCCAGTGGCTCCCCCTGACCTCTGTGCTCTAT	C C	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	430	0.0023	-33	c.175 others(48): Show c.175+947_175+979delATAGAGCACAGAGGTCAGGGGGAGCCACTG GAC	VPS9D1	ENSG00000075399.14	transcript	ENST00000389386.8	protein_coding	2/14			chr16	TogoVar
VSTM1_chr19_54035825_54068897	54056191	CTTTCTTT others(26): Show CTTTCTTTCTTTTCTTTTCTTTTCTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0258 a0001c0003t0002g0258	1	441	0.0023	-33	c.355 others(50): Show c.355+2082_355+2114delAAAAAAAAAAGAAAAGAAAAGAAAAGAA AGAAA	VSTM1	ENSG00000189068.11	transcript	ENST00000338372.7	protein_coding	3/8			chr19	TogoVar
VWA1_chr1_1430690_1447882	1443673	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(133): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01243.hp1 HG01258.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19043.hp2 NA19057.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0001c0006 others(4): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0002c0003 a0002c0012 a0005c0011	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(16): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0036 a0001c0004t0005 a0001c0006t0001 a0001c0007t0001 a0002c0003t0004 a0002c0003t0016 a0002c0003t0017 a0002c0012t0004 a0005c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0007g0001 a0001c0001t0011g0026 a0001c0001t0011g0054 a0001c0001t0014g0051 a0001c0001t0014g0060 a0001c0001t0019g0001 a0001c0001t0022g0058 a0001c0001t0024g0001 a0001c0001t0025g0001 a0001c0001t0026g0022 a0001c0001t0028g0001 a0001c0001t0036g0056 a0001c0004t0005g0009 a0001c0004t0005g0012 a0001c0004t0005g0023 a0001c0006t0001g0001 a0001c0007t0001g0001 a0002c0003t0004g0011 a0002c0003t0004g0013 a0002c0003t0004g0017 a0002c0003t0004g0030 a0002c0003t0004g0031 a0002c0003t0004g0032 a0002c0003t0016g0015 a0002c0003t0017g0016 a0002c0012t0004g0048 a0005c0011t0001g0001	136	280	0.4857	-33	c.38 others(44): Show c.3887_*3919delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	VWA1	ENSG00000179403.12	transcript	ENST00000476993.2	protein_coding		792		chr1	TogoVar
VWC2L_chr2_214406054_214583976	214498681	GGTGTATA others(26): Show GGTGTATATATTATACATATACATATTTTTATAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(129): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02895.hp1 HG02895.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18950.hp1 NA18954.hp1 NA18957.hp2 NA18968.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19065.hp1 NA19070.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19091.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0019 a0001c0001t0024 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0002t0004	a0001c0001t0001g0013 a0001c0001t0001g0078 a0001c0001t0001g0080 others(129): Show a0001c0001t0001g0013 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0001g0172 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0075 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0143 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0206 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0235 a0001c0001t0003g0077 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0093 a0001c0001t0003g0103 a0001c0001t0003g0109 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0005g0194 a0001c0001t0005g0197 a0001c0001t0005g0221 a0001c0001t0005g0280 a0001c0001t0006g0053 a0001c0001t0006g0069 a0001c0001t0006g0076 a0001c0001t0006g0086 a0001c0001t0006g0128 a0001c0001t0009g0230 a0001c0001t0009g0231 a0001c0001t0012g0129 a0001c0001t0019g0118 a0001c0001t0024g0278 a0001c0001t0026g0248 a0001c0001t0029g0183 a0001c0001t0030g0150 a0001c0002t0004g0090 a0001c0002t0004g0141	132	282	0.4681	-33	c.520 others(52): Show c.520+61967_520+61999delTATACATATACATATTTTTATATGTG TATATAT	VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
WAC_chr10_28528118_28628112	28603943	ATATATAT others(26): Show ATATATATATGTATGTATGTATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0297 a0001c0001t0027g0297	1	322	0.0031	-33	c.920 others(50): Show c.920-4242_920-4210delTATATATATGTATGTATGTATATATATA TATAT	WAC	ENSG00000095787.26	transcript	ENST00000354911.9	protein_coding	7/13			chr10	TogoVar
WAPL_chr10_86430256_86526792	86453017	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	410	0.0024	-33	c.294 others(50): Show c.2949+170_2949+202delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	WAPL	ENSG00000062650.20	transcript	ENST00000298767.10	protein_coding	14/18			chr10	TogoVar
WASF1_chr6_110094819_110184670	110124202	TCTCTCTC others(26): Show TCTCTCTCTCTCTCTCCTCTCTCTCCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0018 a0001c0001t0007g0018	1	262	0.0038	-33	c.133 others(50): Show c.133+3234_133+3266delGAGAGAGAGGAGAGAGAGGAGAGAGAGA GAGAG	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	4/10			chr6	TogoVar
WDR27_chr6_169452212_169707029	169456745	GCCACGGT others(26): Show GCCACGGTCACCACACAGAACCCACGGGCAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18953.hp2 NA18970.hp1 others(9): Show NA18947.hp2 NA18953.hp2 NA18970.hp1 NA18973.hp1 NA18986.hp1 NA19012.hp2 NA19056.hp2 NA19060.hp1 NA19065.hp2 NA19080.hp1 NA19085.hp2 NA19087.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0003 a0004c0007 a0006c0005 a0002c0003 a0004c0007 a0006c0005	a0002c0003t0005 a0004c0007t0005 a0006c0005t0004 a0002c0003t0005 a0004c0007t0005 a0006c0005t0004	a0002c0003t0005g0063 a0004c0007t0005g0106 a0004c0007t0005g0107 others(9): Show a0002c0003t0005g0063 a0004c0007t0005g0106 a0004c0007t0005g0107 a0004c0007t0005g0108 a0004c0007t0005g0109 a0004c0007t0005g0110 a0004c0007t0005g0111 a0004c0007t0005g0112 a0004c0007t0005g0116 a0006c0005t0004g0012 a0006c0005t0004g0016 a0006c0005t0004g0017	12	294	0.0408	-33	c.81 others(42): Show c.814_*846delTCTCTGCCCGTGGGTTCTGTGTGGTGACCGTGG	WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding		466		chr6	TogoVar
WDR27_chr6_169452212_169707029	169513630	CAGTAATT others(26): Show CAGTAATTACTTATAAACAATGTGTTTATTTATA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00609.hp2 others(23): Show HG00423.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG01081.hp2 HG02004.hp2 HG02071.hp2 HG02080.hp2 HG02132.hp2 HG02165.hp2 HG02523.hp2 HG03491.hp1 HG03669.hp2 NA18940.hp1 NA18944.hp1 NA18945.hp2 NA18949.hp2 NA18957.hp2 NA18979.hp1 NA18981.hp1 NA19003.hp1 NA19066.hp1 NA19077.hp1 NA19079.hp1 NA19086.hp1 NA19090.hp2	a0004 a0005 a0006 others(4): Show a0004 a0005 a0006 a0015 a0018 a0027 a0035	a0004c0006 a0005c0004 a0006c0005 others(5): Show a0004c0006 a0005c0004 a0006c0005 a0015c0033 a0015c0045 a0018c0021 a0027c0035 a0035c0028	a0004c0006t0008 a0005c0004t0022 a0006c0005t0004 others(6): Show a0004c0006t0008 a0005c0004t0022 a0006c0005t0004 a0006c0005t0010 a0015c0033t0001 a0015c0045t0008 a0018c0021t0001 a0027c0035t0001 a0035c0028t0013	a0004c0006t0008g0265 a0005c0004t0022g0284 a0006c0005t0004g0003 others(23): Show a0004c0006t0008g0265 a0005c0004t0022g0284 a0006c0005t0004g0003 a0006c0005t0004g0005 a0006c0005t0004g0006 a0006c0005t0004g0007 a0006c0005t0004g0009 a0006c0005t0004g0010 a0006c0005t0004g0011 a0006c0005t0004g0013 a0006c0005t0004g0014 a0006c0005t0004g0015 a0006c0005t0004g0018 a0006c0005t0004g0019 a0006c0005t0004g0021 a0006c0005t0004g0022 a0006c0005t0004g0023 a0006c0005t0004g0024 a0006c0005t0004g0032 a0006c0005t0004g0033 a0006c0005t0010g0034 a0015c0033t0001g0182 a0015c0045t0008g0262 a0018c0021t0001g0144 a0027c0035t0001g0119 a0035c0028t0013g0001	26	294	0.0884	-33	c.264 others(54): Show c.2646-56029_2646-55997delTATAAATAAACACATTGTTTATAA GTAATTACT	WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding	25/25			chr6	TogoVar
WDR27_chr6_169452212_169707029	169639154	GGCGTGTA others(26): Show GGCGTGTACTGCGTGGTGCTGGGTACTGTGTGGA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG04204.hp1 HG02738.hp2 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0068 a0002c0003t0002g0071 a0002c0003t0002g0068 a0002c0003t0002g0071	2	294	0.0068	-33	c.174 others(50): Show c.1748-527_1748-495delTCCACACAGTACCCAGCACCACGCAGTA CACGC	WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding	17/25			chr6	TogoVar
WDR27_chr6_169452212_169707029	169698236	AGCTTCAA others(26): Show AGCTTCAATGCCTACCTCTGCCTCAGTGTATTCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(97): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02735.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18956.hp2 NA18957.hp1 NA18966.hp2 NA18970.hp2 NA18979.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18999.hp2 NA19003.hp2 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19080.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1	a0001 a0004 a0015 others(11): Show a0001 a0004 a0015 a0016 a0017 a0018 a0020 a0021 a0024 a0025 a0026 a0027 a0028 a0036	a0001c0001 a0001c0010 a0001c0037 others(16): Show a0001c0001 a0001c0010 a0001c0037 a0004c0006 a0004c0046 a0015c0033 a0015c0045 a0016c0018 a0017c0044 a0017c0047 a0018c0021 a0020c0019 a0021c0022 a0024c0049 a0025c0034 a0026c0036 a0027c0035 a0028c0048 a0036c0027	a0001c0001t0001 a0001c0010t0008 a0001c0037t0001 others(20): Show a0001c0001t0001 a0001c0010t0008 a0001c0037t0001 a0004c0006t0006 a0004c0006t0008 a0004c0006t0020 a0004c0006t0021 a0004c0046t0006 a0015c0033t0001 a0015c0045t0008 a0016c0018t0001 a0017c0044t0008 a0017c0047t0008 a0018c0021t0001 a0018c0021t0006 a0020c0019t0001 a0021c0022t0001 a0024c0049t0006 a0025c0034t0001 a0026c0036t0001 a0027c0035t0001 a0028c0048t0008 a0036c0027t0001	a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0125 others(97): Show a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0010t0008g0255 a0001c0010t0008g0256 a0001c0010t0008g0257 a0001c0010t0008g0258 a0001c0010t0008g0281 a0001c0037t0001g0178 a0004c0006t0006g0252 a0004c0006t0006g0253 a0004c0006t0006g0266 a0004c0006t0006g0267 a0004c0006t0006g0268 a0004c0006t0006g0269 a0004c0006t0006g0270 a0004c0006t0006g0271 a0004c0006t0006g0272 a0004c0006t0006g0273 a0004c0006t0006g0275 a0004c0006t0006g0276 a0004c0006t0006g0277 a0004c0006t0006g0280 a0004c0006t0006g0283 a0004c0006t0008g0263 a0004c0006t0008g0264 a0004c0006t0008g0265 a0004c0006t0020g0260 a0004c0006t0021g0282 a0004c0046t0006g0278 a0015c0033t0001g0182 a0015c0045t0008g0262 a0016c0018t0001g0123 a0016c0018t0001g0124 a0017c0044t0008g0274 a0017c0047t0008g0259 a0018c0021t0001g0144 a0018c0021t0006g0254 a0020c0019t0001g0130 a0020c0019t0001g0131 a0021c0022t0001g0128 a0021c0022t0001g0129 a0024c0049t0006g0279 a0025c0034t0001g0162 a0026c0036t0001g0155 a0027c0035t0001g0119 a0028c0048t0008g0261 a0036c0027t0001g0141	100	294	0.3401	-33	c.-8+ others(48): Show c.-8+3282_-8+3314delCGAATACACTGAGGCAGAGGTAGGCATTGA AGC	WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding	1/25			chr6	TogoVar
WDR37_chr10_1051385_1137372	1101995	GGTCCCTG others(26): Show GGTCCCTGTGACGTGCTTTCCCTTGCTGCTGTGC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03579.hp2 HG06807.hp1 HG02723.hp2 HG03579.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0027 a0001c0001t0007 a0001c0001t0009 a0001c0001t0027	a0001c0001t0007g0303 a0001c0001t0009g0174 a0001c0001t0027g0175 a0001c0001t0007g0303 a0001c0001t0009g0174 a0001c0001t0027g0175	3	362	0.0083	-33	c.727 others(50): Show c.727-1591_727-1559delTTTCCCTTGCTGCTGTGCGTCCCTGTGA CGTGC	WDR37	ENSG00000047056.18	transcript	ENST00000263150.9	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR4_chr21_42844226_42884539	42848604	ACCTCACA others(26): Show ACCTCACACACAGCGCACGATCACACCGCGCACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0232 a0003c0003t0002g0232	1	400	0.0025	-33	c.14 others(44): Show c.1412_*1444delGGTGCGCGGTGTGATCGTGCGCTGTGTGTGAGG	WDR4	ENSG00000160193.12	transcript	ENST00000398208.3	protein_coding		621		chr21	TogoVar
WDR4_chr21_42844226_42884539	42848607	TCACACAC others(26): Show TCACACACAGCGCACGATCACACCGCGCACCTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00621.hp2 others(37): Show HG00140.hp2 HG00438.hp2 HG00621.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01516.hp2 HG01981.hp2 HG02004.hp1 HG02129.hp1 HG02257.hp1 HG02572.hp1 HG02615.hp1 HG02738.hp1 HG03942.hp1 HG04228.hp2 NA18940.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19088.hp1 NA19090.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0009 a0003c0003t0002g0016 a0003c0003t0002g0030 others(31): Show a0003c0003t0002g0009 a0003c0003t0002g0016 a0003c0003t0002g0030 a0003c0003t0002g0031 a0003c0003t0002g0201 a0003c0003t0002g0217 a0003c0003t0002g0218 a0003c0003t0002g0221 a0003c0003t0002g0222 a0003c0003t0002g0223 a0003c0003t0002g0224 a0003c0003t0002g0225 a0003c0003t0002g0226 a0003c0003t0002g0227 a0003c0003t0002g0229 a0003c0003t0002g0230 a0003c0003t0002g0231 a0003c0003t0002g0233 a0003c0003t0002g0234 a0003c0003t0002g0235 a0003c0003t0002g0236 a0003c0003t0002g0237 a0003c0003t0002g0238 a0003c0003t0002g0239 a0003c0003t0002g0240 a0003c0003t0002g0241 a0003c0003t0002g0242 a0003c0003t0002g0243 a0003c0003t0002g0244 a0003c0003t0002g0245 a0003c0003t0002g0249 a0003c0003t0002g0250 a0003c0003t0002g0267 a0003c0003t0002g0269	40	400	0.1000	-33	c.14 others(44): Show c.1409_*1441delTGAGGTGCGCGGTGTGATCGTGCGCTGTGTGTG	WDR4	ENSG00000160193.12	transcript	ENST00000398208.3	protein_coding		618		chr21	TogoVar
WDR4_chr21_42844226_42884539	42848628	ACCGCGCA others(26): Show ACCGCGCACCTCACACACACAGCGCACGATCACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0009 a0003c0003t0002g0009	1	400	0.0025	-33	c.13 others(44): Show c.1388_*1420delCGTGATCGTGCGCTGTGTGTGTGAGGTGCGCGG	WDR4	ENSG00000160193.12	transcript	ENST00000398208.3	protein_coding		597		chr21	TogoVar
WDR4_chr21_42844226_42884539	42848935	ACACAGCA others(26): Show ACACAGCACACGATCACGCGGCGCGCACCTCACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0160 a0001c0006t0007g0161 a0001c0006t0007g0160 a0001c0006t0007g0161	2	400	0.0050	-33	c.10 others(44): Show c.1081_*1113delAGTGAGGTGCGCGCCGCGTGATCGTGTGCTGTG	WDR4	ENSG00000160193.12	transcript	ENST00000398208.3	protein_coding		290		chr21	TogoVar
WDR4_chr21_42844226_42884539	42849133	TCACACAG others(26): Show TCACACAGCACACGATCACGCAGCGTGCACCTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02559.hp1 others(3): Show HG01167.hp1 HG01169.hp2 HG02559.hp1 HG06807.hp1 NA18906.hp2 NA19043.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0033 a0004c0007t0004g0196 a0004c0007t0004g0197 others(2): Show a0004c0007t0004g0033 a0004c0007t0004g0196 a0004c0007t0004g0197 a0004c0007t0004g0198 a0004c0007t0004g0199	6	400	0.0150	-33	c.88 others(42): Show c.883_*915delTGAGGTGCACGCTGCGTGATCGTGTGCTGTGTG	WDR4	ENSG00000160193.12	transcript	ENST00000398208.3	protein_coding		92		chr21	TogoVar
WDR70_chr5_37374318_37758435	37707935	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02615.hp1 HG01261.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0241 a0001c0001t0001g0242	2	242	0.0083	-33	c.141 others(52): Show c.1416+4850_1416+4882delAAAAAAAAAAAAATATATATATATAT ATATATA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR70_chr5_37374318_37758435	37707937	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	242	0.0041	-33	c.141 others(52): Show c.1416+4852_1416+4884delAAAAAAAAAAATATATATATATATAT ATATATA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR70_chr5_37374318_37758435	37707939	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp2 HG02647.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0213 a0001c0001t0001g0073 a0001c0001t0001g0213	2	242	0.0083	-33	c.141 others(52): Show c.1416+4854_1416+4886delAAAAAAAAATATATATATATATATAT ATATATA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR70_chr5_37374318_37758435	37707941	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp2 HG02809.hp2 HG01243.hp1 HG02280.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0074 a0001c0002t0001g0084 a0001c0004t0001g0064 a0001c0002t0001g0074 a0001c0002t0001g0084 a0001c0004t0001g0064	3	242	0.0124	-33	c.141 others(52): Show c.1416+4856_1416+4888delAAAAAAATATATATATATATATATAT ATATATA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WFS1_chr4_6264850_6308265	6299540	TTGTGTGA others(26): Show TTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0015 a0003c0003t0015	a0003c0003t0015g0233 a0003c0003t0015g0233	1	390	0.0026	-33	c.862 others(50): Show c.862-1088_862-1056delGCGTGTGTGTGAATGTGTGTGTAGGGGT GGGTT	WFS1	ENSG00000109501.15	transcript	ENST00000226760.5	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
WIZ_chr19_15414978_15454956	15425826	GGGAGGAG others(26): Show GGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA21309.hp2 HG02257.hp1 NA21309.hp2	a0005 a0012 a0005 a0012	a0005c0033 a0012c0009 a0005c0033 a0012c0009	a0005c0033t0017 a0012c0009t0003 a0005c0033t0017 a0012c0009t0003	a0005c0033t0017g0097 a0012c0009t0003g0162 a0005c0033t0017g0097 a0012c0009t0003g0162	2	208	0.0096	-33	c.436 others(48): Show c.4367-91_4367-59delTCCCTCCTCCCTCCTCCTCCTCCCTCCTCC TCC	WIZ	ENSG00000011451.21	transcript	ENST00000673675.1	protein_coding	9/12			chr19	TogoVar

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