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 per page.

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
NUDT13_chr10_73105455_73136823	73125651	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02145.hp1 HG00735.hp2 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0165 a0002c0002t0003g0172 a0002c0002t0003g0165 a0002c0002t0003g0172	2	324	0.0062	36	c.703 others(51): Show c.703+168_703+169insTATATATATATATATATATATATATATATA TATATA	NUDT13	ENSG00000166321.14	transcript	ENST00000357321.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NUDT14_chr14_105167939_105186312	105181334	G G	GGGGCGGG others(29): Show GGGGCGGGGCGGCCGAGGTGGGCGGGGCGGCCGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	398	0.0025	36	c.-12 others(45): Show c.-126_-125insACCTCGGCCGCCCCGCCCACCTCGGCCGCCCCGCCC	NUDT14	ENSG00000183828.15	transcript	ENST00000392568.7	protein_coding		23		chr14	TogoVar
NUDT18_chr8_22101878_22114419	22106419	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	36	c.88 others(45): Show c.880_*881insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding		458		chr8	TogoVar
NUDT21_chr16_56424133_56456332	56425424	T T	TGCCGCTG others(29): Show TGCCGCTGCCGCTGCCGCTGCCGCTGCCGCCGCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG04204.hp1 HG03491.hp1 HG03492.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	3	414	0.0073	36	c.72 others(47): Show c.7287_*7288insGGCGGCGGCGGCAGCGGCAGCGGCAGCGGCAGCG GC	NUDT21	ENSG00000167005.14	transcript	ENST00000300291.10	protein_coding		3708		chr16	TogoVar
NUDT21_chr16_56424133_56456332	56452720	T T	TGAATGAT others(29): Show TGAATGATTCATGATGGCTGGATCTAGGCAGGTGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	414	0.0024	36	c.-15 others(47): Show c.-1519_-1518insTCGCACCTGCCTAGATCCAGCCATCATGAATCAT TC	NUDT21	ENSG00000167005.14	transcript	ENST00000300291.10	protein_coding		1389		chr16	TogoVar
NUDT3_chr6_34274679_34397669	34351198	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19066.hp2 NA18942.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0049 a0001c0001t0003 a0001c0001t0049	a0001c0001t0003g0189 a0001c0001t0049g0153 a0001c0001t0003g0189 a0001c0001t0049g0153	2	270	0.0074	36	c.100 others(53): Show c.100-9227_100-9226insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUDT4_chr12_93372925_93413146	93382674	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0205 a0001c0002t0205	a0001c0002t0205g0250 a0001c0002t0205g0250	1	414	0.0024	36	c.99+ others(51): Show c.99+4273_99+4274insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUDT4_chr12_93372925_93413146	93406275	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0208 a0001c0001t0208	a0001c0001t0208g0128 a0001c0001t0208g0128	1	414	0.0024	36	c.69 others(47): Show c.6926_*6927insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	5/5	6927	INFO_REALIGN_3_PRIME	chr12	TogoVar
NUF2_chr1_163316954_163360759	163359848	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0178 a0003c0005t0001g0178	1	400	0.0025	36	c.43 others(47): Show c.4379_*4380insTATATATATATATATATATATATATATATATATA TA	NUF2	ENSG00000143228.13	transcript	ENST00000271452.8	protein_coding		4090		chr1	TogoVar
NUFIP2_chr17_29250839_29299148	29276029	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA19030.hp2 NA20805.hp1 HG00099.hp1 NA19030.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0005 a0001c0001t0005 a0001c0003t0005	a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0003t0005g0295 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0003t0005g0295	3	356	0.0084	36	c.200 others(55): Show c.2003-8500_2003-8499insATATATATATATATATATATATATAT ATATATATAT	NUFIP2	ENSG00000108256.9	transcript	ENST00000225388.9	protein_coding	2/3			chr17	TogoVar
NUMA1_chr11_71997864_72085542	72049559	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	244	0.0041	36	c.-32 others(55): Show c.-32-13585_-32-13584insTATATATATATATATATATATATATA TATATATATA	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMB_chr14_73270216_73463546	73299579	C C	CATATATA others(29): Show CATATATATGTCATGTCATATATATGATATGACATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	322	0.0031	36	c.235 others(53): Show c.235-2295_235-2294insATATGTCATATCATATATATGACATGAC ATATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	6/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73440246	T T	TACATCCA others(29): Show TACATCCATATATCTATAGATATCCATATATATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02129.hp2 HG02257.hp1 others(5): Show HG02109.hp2 HG02129.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02602.hp1 HG03490.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(5): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0002g0124 a0001c0004t0001g0121 a0001c0004t0001g0122 a0001c0004t0001g0125	8	322	0.0248	36	c.-23 others(57): Show c.-233+18211_-233+18246dupGTATATATATATGGATATCTATAG ATATATGGATGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	1/12			chr14	TogoVar
NUP107_chr12_68681978_68750809	68747129	A A	ATGATAAA others(29): Show ATGATAAAACGTGAAAAGATGTAGCATAAAGTAGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	398	0.0025	36	c.46 others(47): Show c.4667_*4668insTGATAAAACGTGAAAAGATGTAGCATAAAGTAGG TC	NUP107	ENSG00000111581.10	transcript	ENST00000229179.9	protein_coding		1321		chr12	TogoVar
NUP133_chr1_229435259_229513341	229472707	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01168.hp1 HG02451.hp1 others(2): Show HG00733.hp1 HG01168.hp1 HG02451.hp1 HG03710.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0011 a0002c0002 a0003c0011	a0002c0002t0002 a0002c0002t0010 a0003c0011t0009 a0002c0002t0002 a0002c0002t0010 a0003c0011t0009	a0002c0002t0002g0219 a0002c0002t0002g0246 a0002c0002t0002g0252 others(2): Show a0002c0002t0002g0219 a0002c0002t0002g0246 a0002c0002t0002g0252 a0002c0002t0010g0234 a0003c0011t0009g0139	5	276	0.0181	36	c.185 others(55): Show c.1852-1904_1852-1903insATATATATATATATATATATATATAT ATATATATAT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	14/25			chr1	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(29): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG03942.hp1 NA18983.hp1 others(3): Show HG01943.hp1 HG03942.hp1 NA18983.hp1 NA18999.hp1 NA19063.hp2 NA19080.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0002 a0006c0009t0002 a0001c0001t0002 a0006c0009t0002	a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0296 others(3): Show a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0296 a0001c0001t0002g0302 a0001c0001t0002g0329 a0006c0009t0002g0285	6	338	0.0178	36	c.38 others(47): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT CT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2907		chr11	TogoVar
NUP205_chr7_135552917_135653753	135567124	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	352	0.0028	36	c.29- others(51): Show c.29-3980_29-3979insATATATATATATATATATATATATATATAT ATATAT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP205_chr7_135552917_135653753	135570788	T T	TAATATAT others(29): Show TAATATATATTATATTAATATATATTAATTATATTAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01167.hp1 others(14): Show HG01069.hp1 HG01071.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG02257.hp1 HG02523.hp1 HG02602.hp1 HG02738.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0016 a0012c0033	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0010t0001 a0001c0016t0001 a0012c0033t0001	a0001c0001t0001g0031 a0001c0002t0001g0150 a0001c0002t0001g0182 others(13): Show a0001c0001t0001g0031 a0001c0002t0001g0150 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0189 a0001c0002t0001g0197 a0001c0002t0001g0208 a0001c0002t0001g0294 a0001c0003t0001g0125 a0001c0010t0001g0003 a0001c0010t0001g0188 a0001c0016t0001g0177 a0001c0016t0001g0178 a0012c0033t0001g0260	17	352	0.0483	36	c.29- others(49): Show c.29-317_29-316insAATATATATTATATTAATATATATTAATTATA TTAA	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42			chr7	TogoVar
NUP205_chr7_135552917_135653753	135570788	T T	TAATATAT others(29): Show TAATATATATTATATTAATATATATTGATTATATTAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(77): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00558.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01358.hp1 HG01515.hp1 HG01943.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02451.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03540.hp2 HG03688.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18951.hp2 NA18956.hp1 NA18961.hp1 NA18961.hp2 NA18967.hp2 NA18970.hp1 NA18986.hp1 NA18987.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA19004.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19068.hp1 NA19079.hp2 NA19090.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0002 a0001c0004 a0001c0013 others(4): Show a0001c0002 a0001c0004 a0001c0013 a0001c0014 a0001c0031 a0004c0017 a0009c0032	a0001c0002t0001 a0001c0004t0002 a0001c0013t0001 others(4): Show a0001c0002t0001 a0001c0004t0002 a0001c0013t0001 a0001c0014t0001 a0001c0031t0001 a0004c0017t0001 a0009c0032t0001	a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0075 others(76): Show a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0075 a0001c0002t0001g0088 a0001c0002t0001g0095 a0001c0002t0001g0133 a0001c0002t0001g0136 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0230 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0271 a0001c0002t0001g0276 a0001c0002t0001g0279 a0001c0004t0002g0185 a0001c0004t0002g0190 a0001c0004t0002g0192 a0001c0004t0002g0195 a0001c0013t0001g0272 a0001c0013t0001g0274 a0001c0014t0001g0234 a0001c0014t0001g0275 a0001c0031t0001g0209 a0004c0017t0001g0269 a0004c0017t0001g0270 a0009c0032t0001g0017	80	352	0.2273	36	c.29- others(49): Show c.29-317_29-316insAATATATATTATATTAATATATATTGATTATA TTAA	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42			chr7	TogoVar
NUP205_chr7_135552917_135653753	135629469	A A	ATCTCTCT others(29): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0210 a0001c0003t0001g0210	1	352	0.0028	36	c.493 others(53): Show c.4933-869_4933-834dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	34/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP210L_chr1_153987690_154160073	154125622	A A	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01243.hp1 HG01255.hp1 others(8): Show HG00609.hp1 HG01243.hp1 HG01255.hp1 HG01981.hp1 HG02886.hp2 HG03492.hp1 NA18939.hp1 NA18989.hp1 NA19056.hp2 NA19085.hp2 NA21309.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0003 a0012c0012 a0001c0001 a0001c0003 a0012c0012	a0001c0001t0001 a0001c0003t0001 a0012c0012t0001 a0001c0001t0001 a0001c0003t0001 a0012c0012t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0028 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0001g0203 a0001c0001t0001g0246 a0001c0001t0001g0263 a0001c0001t0001g0274 a0001c0003t0001g0212 a0001c0003t0001g0213 a0012c0012t0001g0243	11	290	0.0379	36	c.132 others(53): Show c.1326+665_1326+700dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39			chr1	TogoVar
NUP210L_chr1_153987690_154160073	154125746	G G	GAAGGAAG others(29): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	290	0.0035	36	c.132 others(53): Show c.1326+576_1326+577insTCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39			chr1	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(29): Show CCACCACCACCACCACCAACAACAACAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0052 a0003c0006t0006g0052	1	326	0.0031	36	c.57 others(47): Show c.5713_*5714insTTGTTGTTGTTGTTGTTGTTGGTGGTGGTGGTGG TG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(29): Show CCACCACCACCACCACCACCAACAACAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0053 a0003c0006t0006g0053	1	326	0.0031	36	c.57 others(47): Show c.5713_*5714insTTGTTGTTGTTGTTGTTGGTGGTGGTGGTGGTGG TG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(29): Show CCACCACCACCACCACCACCACCAACAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02486.hp1 HG02717.hp2 others(3): Show HG02135.hp2 HG02486.hp1 HG02717.hp2 HG02976.hp1 NA18992.hp2 NA19030.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0003c0011 a0002c0002 a0003c0006 a0003c0011	a0002c0002t0007 a0003c0006t0005 a0003c0006t0006 others(1): Show a0002c0002t0007 a0003c0006t0005 a0003c0006t0006 a0003c0011t0001	a0002c0002t0007g0309 a0003c0006t0005g0044 a0003c0006t0006g0055 others(3): Show a0002c0002t0007g0309 a0003c0006t0005g0044 a0003c0006t0006g0055 a0003c0006t0006g0058 a0003c0006t0006g0059 a0003c0011t0001g0035	6	326	0.0184	36	c.57 others(47): Show c.5713_*5714insTTGTTGTTGTTGTTGGTGGTGGTGGTGGTGGTGG TG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(29): Show CCACCACCACCACCACCACCACCACCAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG02965.hp2 NA19030.hp1 HG01074.hp2 HG02965.hp2 NA19030.hp1	a0003 a0005 a0006 a0003 a0005 a0006	a0003c0005 a0005c0003 a0006c0007 a0003c0005 a0005c0003 a0006c0007	a0003c0005t0005 a0005c0003t0001 a0006c0007t0001 a0003c0005t0005 a0005c0003t0001 a0006c0007t0001	a0003c0005t0005g0031 a0005c0003t0001g0215 a0006c0007t0001g0017 a0003c0005t0005g0031 a0005c0003t0001g0215 a0006c0007t0001g0017	3	326	0.0092	36	c.57 others(47): Show c.5713_*5714insTTGTTGTTGTTGGTGGTGGTGGTGGTGGTGGTGG TG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(29): Show CCACCACCACCACCACCACCACCACCACCAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG02922.hp1 HG03516.hp2 HG00140.hp2 HG02922.hp1 HG03516.hp2	a0003 a0006 a0003 a0006	a0003c0005 a0003c0011 a0006c0007 a0003c0005 a0003c0011 a0006c0007	a0003c0005t0005 a0003c0011t0001 a0006c0007t0001 a0003c0005t0005 a0003c0011t0001 a0006c0007t0001	a0003c0005t0005g0033 a0003c0011t0001g0036 a0006c0007t0001g0002 a0003c0005t0005g0033 a0003c0011t0001g0036 a0006c0007t0001g0002	3	326	0.0092	36	c.57 others(47): Show c.5713_*5714insTTGTTGTTGGTGGTGGTGGTGGTGGTGGTGGTGG TG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(29): Show CCACCACCACCACCACCACCACCACCACCACCAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02451.hp2 others(4): Show HG01884.hp1 HG02145.hp2 HG02451.hp2 HG02809.hp1 HG02895.hp2 HG03195.hp1 HG03453.hp2	a0003 a0005 a0006 others(1): Show a0003 a0005 a0006 a0022	a0003c0005 a0005c0003 a0006c0007 others(2): Show a0003c0005 a0005c0003 a0006c0007 a0006c0010 a0022c0017	a0003c0005t0005 a0005c0003t0001 a0006c0007t0001 others(2): Show a0003c0005t0005 a0005c0003t0001 a0006c0007t0001 a0006c0010t0001 a0022c0017t0005	a0003c0005t0005g0023 a0003c0005t0005g0026 a0003c0005t0005g0032 others(4): Show a0003c0005t0005g0023 a0003c0005t0005g0026 a0003c0005t0005g0032 a0005c0003t0001g0291 a0006c0007t0001g0018 a0006c0010t0001g0016 a0022c0017t0005g0057	7	326	0.0215	36	c.57 others(47): Show c.5713_*5714insTTGTTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(29): Show CCACCACCACCACCACCACCACCACCACCACCACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0014 a0006c0007t0001g0014	1	326	0.0031	36	c.57 others(47): Show c.5713_*5714insTTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		4267		chr3	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(29): Show ATTTATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0210 a0002c0002t0001g0210	1	234	0.0043	36	c.590 others(53): Show c.5902+800_5902+801insATTTATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP62CL_chrX_107118427_107211433	107152117	G G	GATATATA others(29): Show GATATATATATATTCAGATATATATATATTCAGATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	280	0.0036	36	c.530 others(53): Show c.530+1054_530+1055insATATCTGAATATATATATATCTGAATAT ATATATAT	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	7/8			chrX	TogoVar
NUP62CL_chrX_107118427_107211433	107189877	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	280	0.0036	36	c.-48 others(53): Show c.-48+3151_-48+3152insCTTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	2/8			chrX	TogoVar
NUP93_chr16_56725129_56855286	56815865	A A	ACTGCTGC others(29): Show ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0034 a0001c0004t0005g0034	1	378	0.0027	36	c.490 others(53): Show c.490-2766_490-2765insCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP98_chr11_3670019_3802554	3729715	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	342	0.0029	36	c.173 others(55): Show c.1730+1675_1730+1676insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32			chr11	TogoVar
NUPR1_chr16_28527708_28543974	28535503	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG01255.hp1 HG01257.hp1 others(2): Show HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0067 a0001c0001t0182 a0001c0001t0017 a0001c0001t0067 a0001c0001t0182	a0001c0001t0017g0014 a0001c0001t0067g0065 a0001c0001t0182g0116 a0001c0001t0017g0014 a0001c0001t0067g0065 a0001c0001t0182g0116	5	368	0.0136	36	c.21 others(47): Show c.2144_*2179dupGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2515		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535552	T T	TTCTTCCT others(29): Show TTCTTCCTTCTTCTTTCTTCTTTCCTTCCTTCCTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0176 a0001c0001t0176	a0001c0001t0176g0204 a0001c0001t0176g0204	1	368	0.0027	36	c.21 others(47): Show c.2130_*2131insGGAAGGAAGGAAGGAAAGAAGAAAGAAGAAGGAA GA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2466		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535552	T T	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0181 a0001c0001t0181	a0001c0001t0181g0115 a0001c0001t0181g0115	1	368	0.0027	36	c.21 others(47): Show c.2130_*2131insGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2466		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0133 a0001c0001t0133	a0001c0001t0133g0103 a0001c0001t0133g0103	1	368	0.0027	36	c.21 others(47): Show c.2119_*2120insAAAGGAAAGAAAGAAAGAAAGAAGGAAAGAAAGA AA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp1 HG01975.hp1 HG01975.hp2 others(5): Show HG01256.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02293.hp2 HG03654.hp2 NA18939.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0056 a0001c0001t0002g0005 a0001c0001t0002g0056	8	368	0.0217	36	c.21 others(47): Show c.2119_*2120insAAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGA AA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0158 a0001c0001t0117g0158	1	368	0.0027	36	c.21 others(47): Show c.2119_*2120insAAAGAAAGGAAGGAAAGAAAGAAAGAAAGAAAGA AA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535567	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCCTTCCTTCCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0124 a0001c0001t0124	a0001c0001t0124g0165 a0001c0001t0124g0165	1	368	0.0027	36	c.21 others(47): Show c.2115_*2116insAAAGAAAGAAAGGAAGGAAGGAAAGAAAGAAAGA AA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2451		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535567	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCCTTCCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0155 a0001c0001t0112g0155	1	368	0.0027	36	c.21 others(47): Show c.2115_*2116insAAAGAAAGAAAGAAAGGAAGGAAAGAAAGAAAGA AA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2451		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCCTTCCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0161 a0001c0001t0120g0161	1	368	0.0027	36	c.21 others(47): Show c.2111_*2112insAAAGAAAGAAAGAAAGGAAGGAAAGAAAGAAAGA AA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar
NUPR2_chr7_56109681_56121417	56115419	A A	ATGTATAT others(29): Show ATGTATATATATACATATATATGTATATATATACATG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG02630.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	448	0.0045	36	c.7- others(49): Show c.7-523_*7-522insCATGTATATATATACATATATATGTATATATA TACA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115455	G G	GTATATAT others(29): Show GTATATATATATATATATGTATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00735.hp1 others(32): Show HG00140.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01109.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01943.hp1 HG02004.hp1 HG02109.hp2 HG02148.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02735.hp2 HG02965.hp2 HG02976.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03669.hp2 HG03831.hp2 HG03834.hp1 NA19030.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	35	448	0.0781	36	c.6+ others(49): Show c.6+559_*7-558insAATATATATATATATATACATATATATATATA TATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115625	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18987.hp1 NA18969.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	2	448	0.0045	36	c.6+ others(49): Show c.6+389_*6+390insTATATATATATATATATATATATATATATATA TATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NVL_chr1_224222345_224335172	224323676	G G	GAAAGAGA others(29): Show GAAAGAGAGGAAAAAAAAAGAAAAAGAGAAGAAGAAA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0252 a0001c0002t0002g0252	1	284	0.0035	36	c.131 others(53): Show c.131+2714_131+2715insTTTCTTCTTCTCTTTTTCTTTTTTTTTC CTCTCTTT	NVL	ENSG00000143748.18	transcript	ENST00000281701.11	protein_coding	2/22			chr1	TogoVar
NWD1_chr19_16714847_16822953	16736193	T T	TTTCCTTC others(29): Show TTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0047 a0008c0010t0047	a0008c0010t0047g0005 a0008c0010t0047g0005	1	300	0.0033	36	c.82- others(49): Show c.82-434_82-433insTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTC	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16736193	T T	TTTCCTTC others(29): Show TTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0039 a0004c0005t0039	a0004c0005t0039g0084 a0004c0005t0039g0084	1	300	0.0033	36	c.82- others(49): Show c.82-434_82-433insTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTC	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16736209	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00558.hp2 others(20): Show HG00280.hp1 HG00323.hp1 HG00558.hp2 HG00733.hp2 HG01074.hp1 HG01496.hp2 HG01516.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02735.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG03239.hp1 HG03239.hp2 HG03579.hp2 HG03710.hp2 HG04184.hp1 NA18973.hp1 NA18982.hp1 NA19043.hp2 NA20752.hp2	a0003 a0004 a0005 others(5): Show a0003 a0004 a0005 a0008 a0012 a0020 a0040 a0045	a0003c0003 a0003c0006 a0004c0005 others(8): Show a0003c0003 a0003c0006 a0004c0005 a0004c0009 a0005c0004 a0005c0016 a0008c0010 a0012c0017 a0020c0027 a0040c0056 a0045c0061	a0003c0003t0002 a0003c0003t0003 a0003c0003t0007 others(13): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0007 a0003c0006t0002 a0004c0005t0029 a0004c0009t0013 a0005c0004t0001 a0005c0004t0002 a0005c0004t0003 a0005c0004t0021 a0005c0016t0002 a0008c0010t0010 a0012c0017t0002 a0020c0027t0007 a0040c0056t0001 a0045c0061t0003	a0003c0003t0002g0091 a0003c0003t0003g0288 a0003c0003t0007g0064 others(20): Show a0003c0003t0002g0091 a0003c0003t0003g0288 a0003c0003t0007g0064 a0003c0006t0002g0071 a0004c0005t0029g0265 a0004c0009t0013g0206 a0005c0004t0001g0274 a0005c0004t0002g0059 a0005c0004t0002g0103 a0005c0004t0003g0248 a0005c0004t0003g0266 a0005c0004t0003g0273 a0005c0004t0003g0280 a0005c0004t0003g0283 a0005c0004t0021g0275 a0005c0016t0002g0101 a0008c0010t0010g0278 a0012c0017t0002g0018 a0012c0017t0002g0019 a0020c0027t0007g0069 a0020c0027t0007g0080 a0040c0056t0001g0279 a0045c0061t0003g0285	23	300	0.0767	36	c.82- others(49): Show c.82-408_82-407insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCT	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar

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Search Results (Total: 8848 hits)