Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NUDT15_chr13_48032726_48052221	48039624	C C	CTTTCTTT others(19): Show CTTTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	424	0.0024	26	c.159 others(43): Show c.159-1293_159-1292insCTTTTTTTTTTTTTTTTTTTTTTTTT	NUDT15	ENSG00000136159.4	transcript	ENST00000258662.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr13	TogoVar
NUDT18_chr8_22101878_22114419	22104831	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG03130.hp2 HG02897.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0007 a0001c0001t0008 a0001c0003t0007	a0001c0001t0008g0009 a0001c0003t0007g0008 a0001c0001t0008g0009 a0001c0003t0007g0008	2	400	0.0050	26	c.24 others(37): Show c.2468_*2469insTTTTTTTTTTTTTTTTTTTTTTTTTT	NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding		2046		chr8	TogoVar
NUDT18_chr8_22101878_22114419	22106419	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	26	c.88 others(35): Show c.880_*881insTTTTTTTTTTTTTTTTTTTTTTTTTT	NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding		458		chr8	TogoVar
NUDT19_chr19_32686821_32718792	32703648	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0150 a0001c0001t0006g0150	1	406	0.0025	26	c.715 others(43): Show c.715-5530_715-5505dupTTTTTTTTTTTTTTTTTTTTTTTTTT	NUDT19	ENSG00000213965.4	transcript	ENST00000397061.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
NUDT2_chr9_34324569_34348699	34338327	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	436	0.0023	26	c.-15 others(43): Show c.-151-381_-151-356dupAAAAAAAAAAAAAAAAAAAAAAAAAA	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUDT3_chr6_34274679_34397669	34351198	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01243.hp2 NA18975.hp2 HG00642.hp1 HG01243.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0048 a0001c0001t0090 a0001c0001t0003 a0001c0001t0048 a0001c0001t0090	a0001c0001t0003g0229 a0001c0001t0048g0157 a0001c0001t0090g0270 a0001c0001t0003g0229 a0001c0001t0048g0157 a0001c0001t0090g0270	3	270	0.0111	26	c.100 others(43): Show c.100-9252_100-9227dupTTTTTTTTTTTTTTTTTTTTTTTTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUDT3_chr6_34274679_34397669	34351226	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0086 a0001c0001t0078g0086	1	270	0.0037	26	c.100 others(43): Show c.100-9255_100-9254insGTTTTTTTTTTTTTTTTTTTTTTTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUDT4_chr12_93372925_93413146	93382674	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0183 a0001c0002t0183	a0001c0002t0183g0247 a0001c0002t0183g0247	1	414	0.0024	26	c.99+ others(41): Show c.99+4273_99+4274insTTTTTTTTTTTTTTTTTTTTTTTTTT	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUDT4_chr12_93372925_93413146	93385970	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02970.hp2 HG01993.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0225 a0001c0001t0009 a0001c0001t0225	a0001c0001t0009g0228 a0001c0001t0225g0210 a0001c0001t0009g0228 a0001c0001t0225g0210	2	414	0.0048	26	c.99+ others(41): Show c.99+7550_99+7551insTATATATATATATATATATATATACA	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUF2_chr1_163316954_163360759	163351337	A A	ATAAAGTT others(19): Show ATAAAGTTCTGCCTTGTTAAGAGTTTT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	400	0.0025	26	c.126 others(45): Show c.1260+2259_1260+2284dupAAAGTTCTGCCTTGTTAAGAGTTTTT	NUF2	ENSG00000143228.13	transcript	ENST00000271452.8	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
NUFIP2_chr17_29250839_29299148	29276029	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0066 a0002c0004t0066	a0002c0004t0066g0028 a0002c0004t0066g0028	1	356	0.0028	26	c.200 others(45): Show c.2003-8500_2003-8499insATATATATATATATATATATATATAT	NUFIP2	ENSG00000108256.9	transcript	ENST00000225388.9	protein_coding	2/3			chr17	TogoVar
NUMA1_chr11_71997864_72085542	72049559	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG01074.hp2 others(19): Show HG00544.hp2 HG00558.hp1 HG01074.hp2 HG01123.hp2 HG02071.hp1 HG02083.hp2 HG02155.hp2 HG02280.hp1 HG02559.hp2 HG03516.hp2 HG03831.hp1 HG03834.hp1 NA18747.hp1 NA18947.hp2 NA18972.hp2 NA18983.hp2 NA18994.hp2 NA19000.hp2 NA19081.hp1 NA19240.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0020 others(1): Show a0001 a0004 a0020 a0021	a0001c0001 a0001c0007 a0001c0008 others(5): Show a0001c0001 a0001c0007 a0001c0008 a0001c0013 a0001c0029 a0004c0016 a0020c0031 a0021c0033	a0001c0001t0001 a0001c0001t0005 a0001c0007t0001 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0007t0001 a0001c0008t0001 a0001c0013t0001 a0001c0029t0001 a0004c0016t0001 a0020c0031t0001 a0021c0033t0001	a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0104 others(19): Show a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0120 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0212 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0005g0242 a0001c0007t0001g0174 a0001c0008t0001g0205 a0001c0013t0001g0219 a0001c0029t0001g0187 a0004c0016t0001g0208 a0020c0031t0001g0161 a0021c0033t0001g0172	22	244	0.0902	26	c.-32 others(45): Show c.-32-13585_-32-13584insTATATATATATATATATATATATATA	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMB_chr14_73270216_73463546	73350074	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	322	0.0031	26	c.126 others(43): Show c.126+5551_126+5552insGTGTGTGTGTGTGTGTGTGTGTGTGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73372313	A A	ATATATAT others(19): Show ATATATATATATATATATATAACCTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp1 HG02717.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0006 a0001c0001t0001g0007	2	322	0.0062	26	c.-10 others(45): Show c.-100-5333_-100-5332insAAAGGTTATATATATATATATATATA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUP133_chr1_229435259_229513341	229449849	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0149 a0001c0001t0004g0149	1	276	0.0036	26	c.318 others(43): Show c.3181-660_3181-659insTATATATATATATATATATATATATA	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	23/25			chr1	TogoVar
NUP133_chr1_229435259_229513341	229472707	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA19054.hp1 HG01074.hp2 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0256 a0002c0002t0002g0258 a0002c0002t0002g0256 a0002c0002t0002g0258	2	276	0.0073	26	c.185 others(45): Show c.1852-1904_1852-1903insATATATATATATATATATATATATAT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	14/25			chr1	TogoVar
NUP153_chr6_17610037_17711925	17678352	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18522.hp1 HG01496.hp1 NA18522.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0294 a0003c0004t0001g0296 a0003c0004t0001g0294 a0003c0004t0001g0296	2	316	0.0063	26	c.335 others(43): Show c.335-2583_335-2582insTTTTTTTTTTTTTTTTTTTTTTTTTT	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	2/21			chr6	TogoVar
NUP155_chr5_37283137_37376106	37294005	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01175.hp2 HG02074.hp1 others(6): Show HG00140.hp2 HG01175.hp2 HG02074.hp1 HG02129.hp2 NA18955.hp2 NA18992.hp1 NA18998.hp1 NA19054.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0026 a0001c0001t0038	a0001c0001t0001g0089 a0001c0001t0001g0108 a0001c0001t0001g0123 others(6): Show a0001c0001t0001g0089 a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0010g0116 a0001c0001t0026g0146 a0001c0001t0038g0117	9	300	0.0300	26	c.393 others(43): Show c.3930+323_3930+324insTTTTTTTTTTTTTTTTTTTTTTTTTT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34			chr5	TogoVar
NUP155_chr5_37283137_37376106	37294024	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19077.hp1 NA18960.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0114 a0001c0001t0001g0121	2	300	0.0067	26	c.393 others(43): Show c.3930+304_3930+305insATTTTTTTTTTTTTTTTTTTTTTTTT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34			chr5	TogoVar
NUP155_chr5_37283137_37376106	37294025	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	300	0.0033	26	c.393 others(43): Show c.3930+303_3930+304insATTTTTTTTTTTTTTTTTTTTTTTTT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34			chr5	TogoVar
NUP155_chr5_37283137_37376106	37353110	T T	TTATATTA others(19): Show TTATATTACAAAATATAATAGTTTAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0053 a0001c0004t0053	a0001c0004t0053g0265 a0001c0004t0053g0265	1	300	0.0033	26	c.464 others(41): Show c.464-282_464-281insTTTAAACTATTATATTTTGTAATATA	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	4/34			chr5	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(19): Show TAGAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	338	0.0030	26	c.38 others(37): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTCT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2907		chr11	TogoVar
NUP188_chr9_128942699_129012096	128984124	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02886.hp1 HG03130.hp1 others(1): Show HG01257.hp1 HG02886.hp1 HG03130.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0001c0001t0001 a0001c0002t0001 a0001c0009t0001	a0001c0001t0001g0045 a0001c0002t0001g0024 a0001c0002t0001g0034 others(1): Show a0001c0001t0001g0045 a0001c0002t0001g0024 a0001c0002t0001g0034 a0001c0009t0001g0268	4	296	0.0135	26	c.196 others(43): Show c.1961+593_1961+594insTTTTTTTTTTTTTTTTTTTTTTTTTT	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	19/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP205_chr7_135552917_135653753	135567124	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	352	0.0028	26	c.29- others(41): Show c.29-3980_29-3979insATATATATATATATATATATATATAT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP205_chr7_135552917_135653753	135629469	A A	ATCTCTCT others(19): Show ATCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0346 a0001c0003t0001g0346	1	352	0.0028	26	c.493 others(43): Show c.4933-859_4933-834dupCTCTCTCTCTCTCTCTCTCTCTCTCT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	34/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP214_chr9_131120586_131239663	131196025	T T	TCCCTCCC others(19): Show TCCCTCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	234	0.0043	26	c.372 others(43): Show c.3721+734_3721+735insTCCCCCCCCCCCCCCCCCCCCCCCCC	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	28/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(19): Show ATTTATTTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18960.hp2 NA18971.hp2 others(1): Show HG02132.hp2 NA18960.hp2 NA18971.hp2 NA19091.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0019 a0001c0001 a0002c0002 a0009c0019	a0001c0001t0001 a0002c0002t0001 a0009c0019t0001 a0001c0001t0001 a0002c0002t0001 a0009c0019t0001	a0001c0001t0001g0027 a0001c0001t0001g0038 a0002c0002t0001g0149 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0038 a0002c0002t0001g0149 a0009c0019t0001g0141	4	234	0.0171	26	c.590 others(43): Show c.5902+800_5902+801insATTTATTTATTTATTTATTTATTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(19): Show ATTTATTTATTTATTTATTTATTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02451.hp1 HG02965.hp1 others(3): Show HG02015.hp2 HG02451.hp1 HG02965.hp1 NA18962.hp1 NA19009.hp2 NA19084.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0008c0014	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0008c0014t0001	a0001c0001t0001g0026 a0001c0001t0001g0067 a0001c0001t0001g0174 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0067 a0001c0001t0001g0174 a0002c0002t0001g0106 a0002c0003t0001g0094 a0008c0014t0001g0100	6	234	0.0256	26	c.590 others(43): Show c.5902+800_5902+801insATTTATTTATTTATTTATTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(19): Show ATTTATTTATTTATTTATTTTATTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	234	0.0043	26	c.590 others(43): Show c.5902+800_5902+801insATTTATTTATTTATTTTATTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(19): Show ATTTATTTATTTATTTATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG00741.hp1 others(6): Show HG00558.hp1 HG00639.hp1 HG00741.hp1 HG01928.hp1 HG02165.hp1 NA18948.hp1 NA18983.hp1 NA19011.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0025 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0007g0046	9	234	0.0385	26	c.590 others(43): Show c.5902+800_5902+801insATTTATTTATTTATTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(19): Show ATTTATTTATTTATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA19055.hp1 HG01928.hp2 NA19055.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0009 a0002c0002 a0004c0009	a0002c0002t0001 a0004c0009t0001 a0002c0002t0001 a0004c0009t0001	a0002c0002t0001g0194 a0004c0009t0001g0008 a0002c0002t0001g0194 a0004c0009t0001g0008	2	234	0.0086	26	c.590 others(43): Show c.5902+800_5902+801insATTTATTTATTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(19): Show ATTTATTTATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA19030.hp1 HG02523.hp1 NA19030.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0029 a0001c0001 a0016c0029	a0001c0001t0001 a0016c0029t0001 a0001c0001t0001 a0016c0029t0001	a0001c0001t0001g0103 a0016c0029t0001g0063 a0001c0001t0001g0103 a0016c0029t0001g0063	2	234	0.0086	26	c.590 others(43): Show c.5902+800_5902+801insATTTATTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(19): Show ATTTATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0006 a0006c0012t0001g0006	1	234	0.0043	26	c.590 others(43): Show c.5902+800_5902+801insATTTTTTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18949.hp2 HG01106.hp2 NA18949.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0012 a0002c0002 a0006c0012	a0002c0002t0001 a0006c0012t0001 a0002c0002t0001 a0006c0012t0001	a0002c0002t0001g0156 a0006c0012t0001g0007 a0002c0002t0001g0156 a0006c0012t0001g0007	2	234	0.0086	26	c.590 others(43): Show c.5902+822_5902+823insTTTTTTTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223729	T T	TTATTTAT others(19): Show TTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	234	0.0043	26	c.590 others(43): Show c.5902+800_5902+801insATTTATTTATTTATTTATTTATTTAT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP54_chr4_76109664_76153397	76125791	G G	GAGGGAGA others(19): Show GAGGGAGAGAGGGGGAGAGAGGGAGAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA19062.hp2 HG01981.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0112 a0001c0001t0004g0102 a0001c0001t0004g0112	2	370	0.0054	26	c.105 others(45): Show c.1057-1036_1057-1035insATCTCCCTCTCTCCCCCTCTCTCCCT	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP62CL_chrX_107118427_107211433	107152053	T T	TATATATA others(19): Show TATATATATATATATATATATATTCAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp1 HG02809.hp1 others(6): Show HG02486.hp1 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG02897.hp2 HG03098.hp1 HG03225.hp1 HG03453.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0004g0102 others(6): Show a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0108	9	280	0.0321	26	c.530 others(43): Show c.530+1093_530+1118dupCTGAATATATATATATATATATATAT	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	7/8			chrX	TogoVar
NUP88_chr17_5379833_5424662	5416180	T T	TATATATA others(19): Show TATATATATATATACACACATACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG06807.hp2 NA18522.hp1 HG01884.hp2 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0008 a0001c0002t0007 a0001c0002t0008	a0001c0002t0007g0197 a0001c0002t0007g0198 a0001c0002t0008g0158 a0001c0002t0007g0197 a0001c0002t0007g0198 a0001c0002t0008g0158	3	370	0.0081	26	c.467 others(41): Show c.467+332_467+333insGTGTGTATGTGTGTATATATATATAT	NUP88	ENSG00000108559.13	transcript	ENST00000573584.6	protein_coding	2/16			chr17	TogoVar
NUP88_chr17_5379833_5424662	5416180	T T	TATATATA others(19): Show TATATATATATATATACACACATACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02970.hp1 HG02280.hp2 HG02451.hp2 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0192 a0001c0002t0010g0193 a0001c0002t0010g0194 a0001c0002t0010g0192 a0001c0002t0010g0193 a0001c0002t0010g0194	3	370	0.0081	26	c.467 others(41): Show c.467+332_467+333insGTGTATGTGTGTATATATATATATAT	NUP88	ENSG00000108559.13	transcript	ENST00000573584.6	protein_coding	2/16			chr17	TogoVar
NUP93_chr16_56725129_56855286	56827044	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0185 a0001c0005t0007g0185	1	378	0.0027	26	c.795 others(43): Show c.795-1908_795-1907insAAAAAAAAAAAAAAAAAAAAAAAAAA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56827069	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0370 a0001c0001t0003g0370	1	378	0.0027	26	c.795 others(43): Show c.795-1908_795-1907insAAAAAAAAAAAAAAAAAAAAAAAAAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	8/21			chr16	TogoVar
NUP98_chr11_3670019_3802554	3707738	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18942.hp2 HG02027.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0188 a0001c0002t0001g0260 a0001c0001t0001g0188 a0001c0002t0001g0260	2	342	0.0059	26	c.274 others(45): Show c.2743-1112_2743-1111insTTTTTTTTTTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	20/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3729715	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp1 NA19077.hp2 HG00735.hp1 HG01106.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0003 a0001c0001t0001 a0002c0008t0003	a0001c0001t0001g0059 a0002c0008t0003g0040 a0002c0008t0003g0062 a0001c0001t0001g0059 a0002c0008t0003g0040 a0002c0008t0003g0062	3	342	0.0088	26	c.173 others(45): Show c.1730+1650_1730+1675dupTTTTTTTTTTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32			chr11	TogoVar
NUTM2F_chr9_94313198_94333644	94313228	A A	ATATAATA others(19): Show ATATAATATATTATATATATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0065 a0011c0013t0001g0065	1	322	0.0031	26	c.52 others(37): Show c.5236_*5237insATATATAATATATATAATATATTATA	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4969		chr9	TogoVar
NWD2_chr4_37239743_37454463	37348675	T T	TATATATA others(19): Show TATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	296	0.0034	26	c.241 others(43): Show c.241-7690_241-7689insTATATATATATATATATACACACACA	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37388655	A A	ATATATAT others(19): Show ATATATATCATATATAAATATATATCG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG01099.hp1 others(49): Show HG00423.hp1 HG00642.hp1 HG01099.hp1 HG01243.hp1 HG01361.hp1 HG01884.hp1 HG02074.hp2 HG02080.hp2 HG02257.hp2 HG02451.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03710.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18961.hp2 NA18963.hp1 NA18970.hp1 NA18971.hp1 NA18978.hp2 NA18989.hp2 NA19007.hp1 NA19009.hp2 NA19030.hp2 NA19079.hp2 NA19087.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0021 a0002c0003 a0002c0006 a0002c0017 a0003c0016 a0003c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0002t0002 a0001c0002t0004 a0001c0002t0015 a0001c0004t0001 a0001c0004t0020 a0001c0005t0001 a0001c0005t0006 a0001c0008t0003 a0001c0009t0001 a0001c0009t0002 a0001c0010t0002 a0001c0011t0002 a0001c0021t0001 a0002c0003t0003 a0002c0003t0006 a0002c0003t0010 a0002c0006t0006 a0002c0017t0006 a0003c0016t0001 a0003c0018t0001	a0001c0001t0001g0016 a0001c0001t0001g0067 a0001c0001t0001g0099 others(49): Show a0001c0001t0001g0016 a0001c0001t0001g0067 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0198 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0002g0149 a0001c0001t0003g0188 a0001c0001t0005g0268 a0001c0001t0007g0252 a0001c0002t0002g0182 a0001c0002t0004g0231 a0001c0002t0015g0169 a0001c0004t0001g0059 a0001c0004t0001g0092 a0001c0004t0001g0100 a0001c0004t0001g0212 a0001c0004t0020g0014 a0001c0005t0001g0040 a0001c0005t0006g0049 a0001c0008t0003g0172 a0001c0008t0003g0173 a0001c0008t0003g0174 a0001c0008t0003g0175 a0001c0008t0003g0282 a0001c0009t0001g0170 a0001c0009t0002g0106 a0001c0009t0002g0197 a0001c0009t0002g0242 a0001c0010t0002g0061 a0001c0010t0002g0177 a0001c0010t0002g0179 a0001c0010t0002g0238 a0001c0011t0002g0284 a0001c0021t0001g0036 a0002c0003t0003g0038 a0002c0003t0006g0195 a0002c0003t0010g0290 a0002c0003t0010g0291 a0002c0006t0006g0045 a0002c0006t0006g0048 a0002c0006t0006g0050 a0002c0006t0006g0137 a0002c0006t0006g0247 a0002c0017t0006g0200 a0003c0016t0001g0111 a0003c0016t0001g0204 a0003c0018t0001g0140 a0003c0018t0001g0155	52	296	0.1757	26	c.357 others(45): Show c.357+32196_357+32221dupATCGTATATATCATATATAAATATAT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37388681	G G	GTATATAT others(19): Show GTATATATCATATATAAATATATATCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0018 a0001c0019t0018	a0001c0019t0018g0294 a0001c0019t0018g0294	1	296	0.0034	26	c.357 others(45): Show c.357+32221_357+32222insATCATATATATCATATATAAATATAT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NXNL1_chr19_17450425_17465926	17450797	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01257.hp1 HG01258.hp1 others(3): Show HG00741.hp1 HG01257.hp1 HG01258.hp1 HG01981.hp2 NA18955.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0041	6	408	0.0147	26	c.48 others(37): Show c.4849_*4850insAAAAAAAAAAAAAAAAAAAAAAAAAA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		4627		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453089	T T	TAATATAT others(19): Show TAATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01192.hp2 HG01496.hp2 others(4): Show HG00140.hp1 HG01192.hp2 HG01496.hp2 HG03704.hp1 HG03710.hp1 NA18954.hp2 NA19056.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0009 a0005c0007 a0001c0001 a0001c0009 a0005c0007	a0001c0001t0001 a0001c0009t0001 a0005c0007t0001 a0001c0001t0001 a0001c0009t0001 a0005c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0009t0001g0071 a0005c0007t0001g0055	7	408	0.0172	26	c.25 others(37): Show c.2557_*2558insTATATATATATATATATATATATATT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2335		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 NA18967.hp1 NA18998.hp1 HG02083.hp1 NA18967.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0067 a0001c0006t0001g0024 a0001c0001t0001g0001 a0001c0001t0001g0067 a0001c0006t0001g0024	3	408	0.0074	26	c.25 others(37): Show c.2531_*2532insAAAATATATATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar

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