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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
NBPF20_chr1_145285005_145430603	145374458	GAGACAGA others(12): Show GAGACAGAGACAGAGACAGA	G G	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0002 a0006c0006t0003g0002	1	6	0.1667	-19	c.396 others(36): Show c.3969-241_3969-223delTCTGTCTCTGTCTCTGTCT		NBPF20	ENSG00000162825.18	transcript	ENST00000698833.1	protein_coding	38/142					chr1	TogoVar
NBPF6_chr1_108445343_108476920	108456060	AGAAAGAA others(12): Show AGAAAGAAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0002 a0003c0017t0002	a0003c0017t0002g0030 a0003c0017t0002g0030	1	68	0.0147	-19	c.784 others(34): Show c.784+465_784+483delAAAGAAAAAGAAAGAAAGG		NBPF6	ENSG00000186086.19	transcript	ENST00000495380.7	protein_coding	6/14				INFO_REALIGN_3_PRIME	chr1	TogoVar
NCALD_chr8_101681542_101795969	101693318	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	300	0.0033	-19	c.379 others(34): Show c.379-441_379-423delAAAAAAAAAAAAAAAAAAA		NCALD	ENSG00000104490.18	transcript	ENST00000220931.11	protein_coding	2/3					chr8	TogoVar
NCAM2_chr21_20993409_21548329	21248776	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp2 HG03195.hp1 others(2): Show HG02922.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0002c0003	a0001c0001t0006 a0001c0007t0005 a0002c0002t0002 others(2): Show a0001c0001t0006 a0001c0007t0005 a0002c0002t0002 a0002c0002t0003 a0002c0003t0012	a0001c0001t0006g0067 a0001c0007t0005g0089 a0002c0002t0002g0075 others(2): Show a0001c0001t0006g0067 a0001c0007t0005g0089 a0002c0002t0002g0075 a0002c0002t0003g0050 a0002c0003t0012g0068	5	132	0.0379	-19	c.56- others(36): Show c.56-31779_56-31761delAAAAAAAAAAAAAAAAAAA		NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17				INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21452632	TTATATAT others(12): Show TTATATATTATATATAAATA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03471.hp1 HG03041.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0017 a0002c0003t0005 a0002c0003t0017	a0002c0003t0005g0008 a0002c0003t0017g0091 a0002c0003t0005g0008 a0002c0003t0017g0091	2	132	0.0152	-19	c.165 others(40): Show c.1655-13958_1655-13940delAATATATATATTATATATA		NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	12/17				INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAPD3_chr11_134145113_134228967	134145119	TGTTAGGG others(12): Show TGTTAGGGATTCTACAGGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	370	0.0027	-19	c.78 others(30): Show c.7806_*7824delTTCCTGTAGAATCCCTAAC		NCAPD3	ENSG00000151503.14	transcript	ENST00000534548.7	protein_coding				4993		chr11	TogoVar
NCBP1_chr9_97628821_97678748	97641443	GTAATGAT others(12): Show GTAATGATTTTAAAATGATA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19043.hp1 HG02976.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0009 a0001c0002 a0003c0009	a0001c0002t0002 a0003c0009t0002 a0001c0002t0002 a0003c0009t0002	a0001c0002t0002g0083 a0003c0009t0002g0082 a0001c0002t0002g0083 a0003c0009t0002g0082	2	364	0.0055	-19	c.124 others(34): Show c.124-118_124-100delTAATGATTTTAAAATGATA		NCBP1	ENSG00000136937.13	transcript	ENST00000375147.8	protein_coding	2/22					chr9	TogoVar
NCEH1_chr3_172625249_172716067	172644077	TAGGGCTT others(12): Show TAGGGCTTTTGGGTGACTGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp2 HG01891.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0135 a0002c0002t0003g0313 a0002c0002t0002g0135 a0002c0002t0003g0313	2	332	0.0060	-19	c.437 others(36): Show c.437+1527_437+1545delGCAGTCACCCAAAAGCCCT		NCEH1	ENSG00000144959.11	transcript	ENST00000475381.7	protein_coding	3/4					chr3	TogoVar
NCF2_chr1_183550562_183595459	183561779	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19000.hp1 HG03831.hp2 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0280 a0002c0002t0001g0253 a0001c0001t0001g0280 a0002c0002t0001g0253	2	406	0.0049	-19	c.129 others(38): Show c.1290+1397_1290+1415delAAAAAAAAAAAAAAAAAAA		NCF2	ENSG00000116701.16	transcript	ENST00000367535.8	protein_coding	13/14					chr1	TogoVar
NCK2_chr2_105739912_105899272	105744979	GCGCCCGG others(12): Show GCGCCCGGGCCGGCAGGGTC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01257.hp1 HG02109.hp2 HG03516.hp2 HG01257.hp1 HG02109.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0022 a0001c0001t0017 a0001c0001t0022	a0001c0001t0017g0269 a0001c0001t0017g0300 a0001c0001t0022g0272 a0001c0001t0017g0269 a0001c0001t0017g0300 a0001c0001t0022g0272	3	334	0.0090	-19	c.-34 others(28): Show c.-344_-326delGGTCCGCCCGGGCCGGCAG		NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	1/5			110051	INFO_REALIGN_3_PRIME	chr2	TogoVar
NCK2_chr2_105739912_105899272	105744995	GGTCCGCC others(12): Show GGTCCGCCCGGGCCGGCAGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03017.hp1 HG03098.hp2 HG03017.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0024 a0001c0001t0023 a0001c0001t0024	a0001c0001t0023g0055 a0001c0001t0024g0049 a0001c0001t0023g0055 a0001c0001t0024g0049	2	334	0.0060	-19	c.-33 others(28): Show c.-333_-315delGCCGGCAGCGTCCGCCCGG		NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	1/5			110040	INFO_REALIGN_3_PRIME	chr2	TogoVar
NCKAP5_chr2_132666788_133573463	133178504	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0045 a0006c0014t0002g0045	1	70	0.0143	-19	c.207 others(38): Show c.207+35193_207+35211delTTTTTTTTTTTTTTTTTTT		NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	5/19					chr2	TogoVar
NCL_chr2_231448531_231469484	231465114	CGAACCTC others(12): Show CGAACCTCCCCTACCCCACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 NA18964.hp2 NA18969.hp2 others(1): Show HG02155.hp1 NA18964.hp2 NA18969.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0026 a0001c0001t0012 a0001c0001t0026	a0001c0001t0012g0034 a0001c0001t0026g0170 a0001c0001t0012g0034 a0001c0001t0026g0170	4	462	0.0087	-19	c.-78 others(28): Show c.-780_-762delTGTGGGGTAGGGGAGGTTC		NCL	ENSG00000115053.17	transcript	ENST00000322723.9	protein_coding				631		chr2	TogoVar
NCMAP_chr1_24551087_24614328	24597601	GAAAGAAA others(12): Show GAAAGAAAGAAAGAAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02818.hp1 HG03209.hp2 others(3): Show HG02723.hp2 HG02818.hp1 HG03209.hp2 HG03486.hp2 HG06807.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0013 a0002c0002t0004 a0002c0002t0013	a0002c0002t0004g0004 a0002c0002t0004g0006 a0002c0002t0004g0275 others(2): Show a0002c0002t0004g0004 a0002c0002t0004g0006 a0002c0002t0004g0275 a0002c0002t0013g0002 a0002c0002t0013g0146	6	402	0.0149	-19	c.82+ others(34): Show c.82+2092_82+2110delAGAAAGAAAGAAAGAGAAA		NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	2/3				INFO_REALIGN_3_PRIME	chr1	TogoVar
NCMAP_chr1_24551087_24614328	24604573	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0146 a0002c0002t0013g0146	1	402	0.0025	-19	c.168 others(36): Show c.168-1018_168-1000delAAAAAAAAAAAAAAAAAAA		NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3				INFO_REALIGN_3_PRIME	chr1	TogoVar
NCMAP_chr1_24551087_24614328	24604592	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03654.hp1 HG00558.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0151 a0001c0001t0006g0284 a0001c0001t0006g0151 a0001c0001t0006g0284	2	402	0.0050	-19	c.168 others(35): Show c.168-1012_168-994delAAAAAAAAAAAAATATATA		NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3				INFO_REALIGN_3_PRIME	chr1	TogoVar
NCMAP_chr1_24551087_24614328	24604600	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02735.hp2 HG02622.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0240 a0001c0001t0003g0012 a0001c0001t0003g0240	2	402	0.0050	-19	c.168 others(35): Show c.168-1004_168-986delAAAAATATATATATATATA		NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3				INFO_REALIGN_3_PRIME	chr1	TogoVar
NCMAP_chr1_24551087_24614328	24604602	AAAAATAT others(12): Show AAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03491.hp2 HG01169.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0319 a0001c0001t0003g0358 a0001c0001t0003g0319 a0001c0001t0003g0358	2	402	0.0050	-19	c.168 others(35): Show c.168-1002_168-984delAAATATATATATATATATA		NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3				INFO_REALIGN_3_PRIME	chr1	TogoVar
NCMAP_chr1_24551087_24614328	24604604	AAATATAT others(12): Show AAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG04184.hp2 NA18966.hp2 HG01167.hp1 HG04184.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0219 a0001c0001t0003g0320 a0001c0001t0003g0069 a0001c0001t0003g0219 a0001c0001t0003g0320	3	402	0.0075	-19	c.168 others(35): Show c.168-1000_168-982delATATATATATATATATATA		NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3				INFO_REALIGN_3_PRIME	chr1	TogoVar
NCMAP_chr1_24551087_24614328	24604606	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01433.hp2 HG00544.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0371 a0001c0001t0003g0256 a0001c0001t0003g0371	2	402	0.0050	-19	c.168 others(34): Show c.168-999_168-981delTATATATATATATATATAT		NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3					chr1	TogoVar
NCOA1_chr2_24486254_24775702	24552347	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA20300.hp2 HG03516.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0015 a0001c0006t0001 a0001c0001t0015 a0001c0006t0001	a0001c0001t0015g0165 a0001c0006t0001g0171 a0001c0001t0015g0165 a0001c0006t0001g0171	2	314	0.0064	-19	c.-39 others(40): Show c.-395-11946_-395-11928delATATATTTTTTTTTTTTTT		NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	1/22				INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOA1_chr2_24486254_24775702	24552349	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	314	0.0032	-19	c.-39 others(40): Show c.-395-11944_-395-11926delATATTTTTTTTTTTTTTTT		NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	1/22				INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOA2_chr8_70104782_70408808	70335122	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	322	0.0031	-19	c.-76 others(38): Show c.-76-38341_-76-38323delTTTTTTTTTTTTTTTTTTT		NCOA2	ENSG00000140396.13	transcript	ENST00000452400.7	protein_coding	1/22					chr8	TogoVar
NCOA3_chr20_47496887_47661872	47514695	GTTTTGTT others(12): Show GTTTTGTTTTGTTTTTTGCT	G G	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0010 a0008c0014t0010	a0008c0014t0010g0219 a0008c0014t0010g0219	1	316	0.0032	-19	c.-99 others(38): Show c.-99+12681_-99+12699delGTTTTGTTTTTTGCTTTTT		NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22				INFO_REALIGN_3_PRIME	chr20	TogoVar
NCOA3_chr20_47496887_47661872	47594664	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00558.hp2 others(67): Show HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG01981.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02145.hp2 HG02257.hp2 HG02273.hp2 HG02451.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG03139.hp2 HG03471.hp2 HG03491.hp2 HG03654.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18949.hp1 NA18954.hp2 NA18960.hp2 NA18966.hp2 NA18972.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18992.hp1 NA19001.hp2 NA19043.hp1 NA19060.hp2 NA19070.hp2 NA19079.hp1 NA19080.hp1 NA19086.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0012 a0014	a0001c0001 a0001c0015 a0002c0002 others(3): Show a0001c0001 a0001c0015 a0002c0002 a0006c0009 a0012c0020 a0014c0022	a0001c0001t0021 a0001c0001t0031 a0001c0015t0002 others(12): Show a0001c0001t0021 a0001c0001t0031 a0001c0015t0002 a0002c0002t0002 a0002c0002t0008 a0002c0002t0009 a0002c0002t0018 a0002c0002t0019 a0002c0002t0035 a0002c0002t0041 a0002c0002t0044 a0006c0009t0002 a0006c0009t0040 a0012c0020t0002 a0014c0022t0002	a0001c0001t0021g0116 a0001c0001t0031g0126 a0001c0015t0002g0115 others(67): Show a0001c0001t0021g0116 a0001c0001t0031g0126 a0001c0015t0002g0115 a0001c0015t0002g0131 a0002c0002t0002g0089 a0002c0002t0002g0099 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0123 a0002c0002t0002g0125 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0132 a0002c0002t0002g0146 a0002c0002t0002g0151 a0002c0002t0002g0153 a0002c0002t0002g0155 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0185 a0002c0002t0002g0189 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0204 a0002c0002t0002g0214 a0002c0002t0002g0247 a0002c0002t0002g0280 a0002c0002t0008g0093 a0002c0002t0008g0094 a0002c0002t0009g0037 a0002c0002t0009g0046 a0002c0002t0009g0047 a0002c0002t0009g0048 a0002c0002t0009g0059 a0002c0002t0009g0060 a0002c0002t0018g0187 a0002c0002t0018g0188 a0002c0002t0018g0190 a0002c0002t0019g0058 a0002c0002t0019g0061 a0002c0002t0035g0096 a0002c0002t0041g0152 a0002c0002t0044g0114 a0006c0009t0002g0120 a0006c0009t0002g0122 a0006c0009t0002g0124 a0006c0009t0002g0156 a0006c0009t0002g0183 a0006c0009t0040g0121 a0012c0020t0002g0203 a0014c0022t0002g0184	70	316	0.2215	-19	c.-20 others(38): Show c.-20+11416_-20+11434delAAAAAAAAAAAAAAAAAAA		NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	2/22				INFO_REALIGN_3_PRIME	chr20	TogoVar
NCOA4_chr10_46000088_46035623	46012070	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	412	0.0024	-19	c.714 others(34): Show c.714+794_714+812delTTTTTTTTTTTTTTTTTTT		NCOA4	ENSG00000266412.6	transcript	ENST00000581486.6	protein_coding	7/9					chr10	TogoVar
NCOA6_chr20_34709774_34830651	34768450	GTGGGAGG others(12): Show GTGGGAGGTCTTACCTGGAC	G G	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA19003.hp2 NA19003.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0217 a0004c0008t0001g0217	1	290	0.0035	-19	c.509 others(29): Show c.509_514+13delGTCCAGGTAAGACCTCCCA	p.Pro others(13): Show p.Pro171_Gly172del	NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	5/15	509/6192	170/2063			chr20	TogoVar
NCOA7_chr6_125785960_125937034	125840868	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA18982.hp1 NA18985.hp2 others(4): Show HG03490.hp2 NA18982.hp1 NA18985.hp2 NA19055.hp2 NA19068.hp1 NA19070.hp2 NA19080.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0005 a0001c0001 a0003c0003 a0004c0005	a0001c0001t0004 a0003c0003t0003 a0004c0005t0003 a0001c0001t0004 a0003c0003t0003 a0004c0005t0003	a0001c0001t0004g0021 a0001c0001t0004g0023 a0001c0001t0004g0024 others(4): Show a0001c0001t0004g0021 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0031 a0003c0003t0003g0206 a0003c0003t0003g0227 a0004c0005t0003g0020	7	270	0.0259	-19	c.51- others(36): Show c.51-14128_51-14110delTTTTTTTTTTTTTTTTTTT		NCOA7	ENSG00000111912.20	transcript	ENST00000392477.7	protein_coding	2/15				INFO_REALIGN_3_PRIME	chr6	TogoVar
NCOR1_chr17_16024157_16220534	16092681	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	282	0.0036	-19	c.282 others(36): Show c.2821-642_2821-624delAAAAATATATATATATATA		NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45					chr17	TogoVar
NCOR2_chr12_124319415_124572612	124345983	GCTGGGGC others(12): Show GCTGGGGCCGCCTGGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01106.hp2 HG01261.hp1 HG00280.hp1 HG01106.hp2 HG01261.hp1	a0001 a0017 a0001 a0017	a0001c0031 a0001c0048 a0017c0132 a0001c0031 a0001c0048 a0017c0132	a0001c0031t0013 a0001c0048t0064 a0017c0132t0035 a0001c0031t0013 a0001c0048t0064 a0017c0132t0035	a0001c0031t0013g0073 a0001c0048t0064g0182 a0017c0132t0035g0129 a0001c0031t0013g0073 a0001c0048t0064g0182 a0017c0132t0035g0129	3	234	0.0128	-19	c.435 others(36): Show c.4359+562_4359+580delTCCCCCCAGGCGGCCCCAG		NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	33/48					chr12	TogoVar
NCOR2_chr12_124319415_124572612	124430994	GCACACAG others(12): Show GCACACAGGCACATACAAGT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0026 a0001c0028t0026	a0001c0028t0026g0108 a0001c0028t0026g0108	1	234	0.0043	-19	c.883 others(34): Show c.883-226_883-208delACTTGTATGTGCCTGTGTG		NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	10/48					chr12	TogoVar
NCR1_chr19_54901148_54918073	54912599	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01261.hp1 HG02080.hp1 others(18): Show HG01123.hp2 HG01261.hp1 HG02080.hp1 HG02300.hp1 HG02630.hp1 HG02630.hp2 HG03041.hp2 HG03516.hp2 HG03688.hp2 NA18940.hp2 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18956.hp2 NA18977.hp1 NA19000.hp1 NA19010.hp2 NA19089.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0005c0007	a0001c0001t0001 a0001c0003t0001 a0001c0003t0007 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0007 a0002c0002t0002 a0005c0007t0001	a0001c0001t0001g0146 a0001c0001t0001g0197 a0001c0003t0001g0204 others(9): Show a0001c0001t0001g0146 a0001c0001t0001g0197 a0001c0003t0001g0204 a0001c0003t0007g0058 a0002c0002t0002g0010 a0002c0002t0002g0024 a0002c0002t0002g0070 a0002c0002t0002g0078 a0002c0002t0002g0081 a0002c0002t0002g0092 a0002c0002t0002g0095 a0005c0007t0001g0117	21	457	0.0460	-19	c.734 others(32): Show c.734-70_734-52delAAAAAAAAAAAAAAAAAAA		NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding	6/6				INFO_REALIGN_3_PRIME	chr19	TogoVar
NDOR1_chr9_137200700_137224361	137222153	AGGGGCGC others(12): Show AGGGGCGCGGGCGCGGGCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	386	0.0026	-19	c.57 others(30): Show c.5738_*5756delGGGGCGCGGGCGCGGGCGT		NDOR1	ENSG00000188566.15	transcript	ENST00000684003.1	protein_coding				2793		chr9	TogoVar
NDRG3_chr20_36646771_36751090	36733170	AAATATAT others(12): Show AAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	298	0.0034	-19	c.-48 others(38): Show c.-48-11406_-48-11388delATATATATATATATATATT		NDRG3	ENSG00000101079.21	transcript	ENST00000349004.6	protein_coding	1/15					chr20	TogoVar
NDST4_chr4_114822763_115118620	114847375	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01081.hp2 others(4): Show HG00621.hp1 HG00735.hp2 HG01081.hp2 HG01175.hp1 HG02135.hp1 HG02135.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0029 a0001c0001t0001g0147 a0001c0001t0001g0182 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0147 a0001c0001t0001g0182 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0044	7	190	0.0368	-19	c.194 others(36): Show c.1940+821_1940+839delTTTTTTTTTTTTTTTTTTT		NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	9/13					chr4	TogoVar
NDUFA10_chr2_239952372_240030342	240025945	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG03492.hp1 HG03688.hp2 HG02965.hp1 HG03492.hp1 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0023 a0001c0003t0001g0083 a0001c0003t0001g0129 a0001c0002t0002g0023 a0001c0003t0001g0083 a0001c0003t0001g0129	3	412	0.0073	-19	c.-66 others(28): Show c.-663_-645delAAAAAAAAAAAAAAAAAAA		NDUFA10	ENSG00000130414.13	transcript	ENST00000252711.7	protein_coding				604		chr2	TogoVar
NDUFAF2_chr5_60940205_61158026	61056902	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0183 a0001c0002t0001g0183	1	266	0.0038	-19	c.128 others(38): Show c.128-16221_128-16203delAAAAAAAAAAAAAAAAATA		NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	1/3				INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFAF2_chr5_60940205_61158026	61056914	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	266	0.0038	-19	c.128 others(38): Show c.128-16209_128-16191delAAAAATATATATATATATA		NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	1/3				INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFAF2_chr5_60940205_61158026	61056916	AAAAATAT others(12): Show AAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0199 a0001c0002t0001g0199	1	266	0.0038	-19	c.128 others(38): Show c.128-16207_128-16189delAAATATATATATATATATA		NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	1/3				INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFAF2_chr5_60940205_61158026	61056918	AAATATAT others(12): Show AAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	266	0.0038	-19	c.128 others(38): Show c.128-16205_128-16187delATATATATATATATATATA		NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	1/3				INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFS5_chr1_39021350_39039615	39025335	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 NA18962.hp2 NA18969.hp2 HG02258.hp2 NA18962.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0003 a0001c0001t0001g0007	3	438	0.0069	-19	c.-10 others(30): Show c.-1069_-1051delTTTTTTTTTTTTTTTTTTT		NDUFS5	ENSG00000168653.11	transcript	ENST00000372969.8	protein_coding				1014		chr1	TogoVar
NDUFV2_chr18_9097699_9139341	9124256	GACTACTG others(12): Show GACTACTGTAAAAAATTTTT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02970.hp2 HG03041.hp2 HG02895.hp1 HG02970.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0086 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0086	3	368	0.0082	-19	c.470 others(34): Show c.470-603_470-585delTTTTTACTACTGTAAAAAA		NDUFV2	ENSG00000178127.13	transcript	ENST00000318388.11	protein_coding	5/7				INFO_REALIGN_3_PRIME	chr18	TogoVar
NECAB2_chr16_83963244_84007776	84000826	GGTGAGGG others(12): Show GGTGAGGGAGACAGAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02970.hp1 NA18522.hp1 HG02615.hp1 HG02970.hp1 NA18522.hp1	a0006 a0006	a0006c0012 a0006c0021 a0006c0012 a0006c0021	a0006c0012t0015 a0006c0021t0015 a0006c0012t0015 a0006c0021t0015	a0006c0012t0015g0013 a0006c0012t0015g0014 a0006c0021t0015g0008 a0006c0012t0015g0013 a0006c0012t0015g0014 a0006c0021t0015g0008	3	354	0.0085	-19	c.104 others(34): Show c.1040+29_1040+47delAGGGAGACAGAGGGAAGTG		NECAB2	ENSG00000103154.10	transcript	ENST00000305202.9	protein_coding	11/12				INFO_REALIGN_3_PRIME	chr16	TogoVar
NECAP2_chr1_16435724_16465078	16464517	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTCTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG06807.hp2 HG01891.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0149 a0001c0001t0003g0145 a0001c0001t0003g0149	2	386	0.0052	-19	c.56 others(30): Show c.5628_*5646delTTTTTTTTTTTTTTTCTTT		NECAP2	ENSG00000157191.20	transcript	ENST00000337132.10	protein_coding				4440		chr1	TogoVar
NEDD1_chr12_96902257_96958780	96930186	CACACACA others(12): Show CACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	400	0.0025	-19	c.490 others(36): Show c.490-4789_490-4771delACACACACACACACACACA		NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15					chr12	TogoVar
NEDD4_chr15_55821922_55998612	55840000	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp2 HG02647.hp1 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0011 a0001c0001t0007 a0002c0002t0011	a0001c0001t0007g0152 a0002c0002t0011g0066 a0001c0001t0007g0152 a0002c0002t0011g0066	2	344	0.0058	-19	c.203 others(36): Show c.2031+428_2031+446delATATATATATATATATATA		NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	21/28					chr15	TogoVar
NEDD4_chr15_55821922_55998612	55883518	TAGGGCCT others(12): Show TAGGGCCTTGGAGCAAACAG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03209.hp2 HG03540.hp2 HG03195.hp2 HG03209.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101	3	344	0.0087	-19	c.292 others(36): Show c.292-9529_292-9511delCTGTTTGCTCCAAGGCCCT		NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	5/28					chr15	TogoVar
NEDD9_chr6_11178298_11237668	11199637	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	398	0.0025	-19	c.460 others(36): Show c.460-5964_460-5946delAAAAAAAAAAAAAAAAAAA		NEDD9	ENSG00000111859.17	transcript	ENST00000379446.10	protein_coding	2/6					chr6	TogoVar
NEGR1_chr1_71390943_72287539	71523225	TTGTTGGG others(12): Show TTGTTGGGTTGTTGTGAGGA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0017 a0001c0002t0004g0017	1	64	0.0156	-19	c.940 others(38): Show c.940+69573_940+69591delTCCTCACAACAACCCAACA		NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	6/6					chr1	TogoVar
NEGR1_chr1_71390943_72287539	71759596	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03225.hp1 HG03516.hp2 others(2): Show HG02970.hp2 HG03225.hp1 HG03516.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0001t0025 a0001c0003t0008 others(1): Show a0001c0001t0012 a0001c0001t0025 a0001c0003t0008 a0001c0003t0024	a0001c0001t0012g0012 a0001c0001t0025g0052 a0001c0003t0008g0013 others(2): Show a0001c0001t0012g0012 a0001c0001t0025g0052 a0001c0003t0008g0013 a0001c0003t0008g0016 a0001c0003t0024g0021	5	64	0.0781	-19	c.535 others(38): Show c.535+16557_535+16575delAAAAAAAAAAAAAAAAAAA		NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	3/6					chr1	TogoVar

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