Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NCMAP_chr1_24551087_24614328	24604605	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	402	0.0025	-34	c.168 others(49): Show c.168-986_168-953delATATATATATATATATATATATATATATAT ATAT	NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
NCOA1_chr2_24486254_24775702	24639912	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(99): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02080.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02258.hp1 HG02300.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02897.hp2 HG02970.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18952.hp2 NA18955.hp1 NA18960.hp1 NA18962.hp2 NA18967.hp1 NA18968.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18993.hp2 NA18994.hp1 NA19001.hp1 NA19003.hp2 NA19006.hp2 NA19012.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19077.hp1 NA19078.hp1 NA19083.hp1 NA19085.hp1 NA19091.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0001c0011t0001 a0001c0012t0004	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(99): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0124 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0005g0223 a0001c0001t0005g0228 a0001c0001t0005g0238 a0001c0001t0005g0242 a0001c0001t0005g0246 a0001c0001t0007g0235 a0001c0001t0007g0249 a0001c0001t0013g0219 a0001c0001t0013g0240 a0001c0001t0020g0295 a0001c0001t0021g0296 a0001c0002t0001g0236 a0001c0002t0001g0293 a0001c0006t0001g0262 a0001c0007t0001g0297 a0001c0011t0001g0261 a0001c0012t0004g0248	102	314	0.3248	-34	c.-17 others(53): Show c.-174-4052_-174-4019delGTGTATATATATATATATATATATAT ATATATAT	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOA6_chr20_34709774_34830651	34800598	TATAAAAA others(27): Show TATAAAAAAGAGACAAAGAAGGTTATTATATAATG	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	290	0.0035	-34	c.-16 others(53): Show c.-163-8069_-163-8036delCATTATATAATAACCTTCTTTGTCTC TTTTTTAT	NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	1/14			chr20	TogoVar
NCS1_chr9_130167404_130242303	130170692	GGGATTAC others(27): Show GGGATTACCAGCATGAGCCACTGCACCCAGCCTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0262 a0001c0001t0005g0262	1	348	0.0029	-34	c.-19 others(45): Show c.-1971_-1938delGGATTACCAGCATGAGCCACTGCACCCAGCCTGA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding		1711		chr9	TogoVar
NCS1_chr9_130167404_130242303	130176156	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp2 HG02717.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0143 a0001c0002t0017 a0001c0002t0143	a0001c0002t0017g0317 a0001c0002t0143g0316 a0001c0002t0017g0317 a0001c0002t0143g0316	2	348	0.0058	-34	c.64+ others(49): Show c.64+3431_64+3464delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NCS1_chr9_130167404_130242303	130176160	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01891.hp1 HG01109.hp1 HG01167.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0061 a0001c0001t0114 a0001c0001t0050 a0001c0001t0061 a0001c0001t0114	a0001c0001t0050g0308 a0001c0001t0061g0232 a0001c0001t0114g0290 a0001c0001t0050g0308 a0001c0001t0061g0232 a0001c0001t0114g0290	3	348	0.0086	-34	c.64+ others(49): Show c.64+3435_64+3468delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NCS1_chr9_130167404_130242303	130221391	TATATATA others(27): Show TATATATATATATATATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0012 a0001c0002t0012g0012	1	348	0.0029	-34	c.308 others(51): Show c.308-1257_308-1224delTATATATATATATATATATATAGAGAGA GAGAGA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NDST3_chr4_118029486_118263634	118066294	ATATATTA others(27): Show ATATATTATGTATTATATATATTATATATATTATG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG04204.hp2 HG02258.hp2 HG04204.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0005 a0001c0008t0003 a0001c0008t0005	a0001c0008t0003g0210 a0001c0008t0005g0177 a0001c0008t0003g0210 a0001c0008t0005g0177	2	216	0.0093	-34	c.981 others(53): Show c.981+11407_981+11440delATTATGTATTATATATATTATATATA TTATGTAT	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
NDST3_chr4_118029486_118263634	118066299	TTATGTAT others(27): Show TTATGTATTATATATATTATATATATTATGTATTA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp2 NA18612.hp2 others(2): Show HG00639.hp1 HG02055.hp2 NA18612.hp2 NA18970.hp2 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0172 others(2): Show a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0172 a0001c0002t0001g0178 a0001c0002t0001g0214	5	216	0.0232	-34	c.981 others(53): Show c.981+11412_981+11445delGTATTATATATATTATATATATTATG TATTATAT	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
NDUFA10_chr2_239952372_240030342	239974880	CTCTACCA others(27): Show CTCTACCACCAAAGAGCTGGTCATTTAAAAATATG	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02135.hp2 NA19088.hp2 HG02080.hp1 HG02135.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0009 a0001c0002t0032 a0001c0001t0010 a0001c0002t0009 a0001c0002t0032	a0001c0001t0010g0021 a0001c0002t0009g0322 a0001c0002t0032g0188 a0001c0001t0010g0021 a0001c0002t0009g0322 a0001c0002t0032g0188	3	412	0.0073	-34	c.100 others(55): Show c.1000-13728_1000-13695delCATATTTTTAAATGACCAGCTCTT TGGTGGTAGA	NDUFA10	ENSG00000130414.13	transcript	ENST00000252711.7	protein_coding	9/9			chr2	TogoVar
NDUFA10_chr2_239952372_240030342	240004577	CCTCCTAG others(27): Show CCTCCTAGTCCTGCCCCATTCCGCCATGGCCTCCT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0176 a0001c0002t0046g0176	1	412	0.0024	-34	c.890 others(49): Show c.890+599_890+632delAGGAGGCCATGGCGGAATGGGGCAGGACTA GGAG	NDUFA10	ENSG00000130414.13	transcript	ENST00000252711.7	protein_coding	8/9			chr2	TogoVar
NDUFS5_chr1_39021350_39039615	39024902	TTATATAT others(27): Show TTATATATATATATATTTATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00438.hp1 others(94): Show HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01123.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01515.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG02004.hp1 HG02071.hp1 HG02071.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03491.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04204.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18966.hp1 NA18970.hp1 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18997.hp2 NA19000.hp1 NA19001.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19077.hp2 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(25): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0002c0002t0001g0006	97	438	0.2215	-34	c.-15 others(45): Show c.-1502_-1469delTATATATATATATATTTATATATATATATATATA	NDUFS5	ENSG00000168653.11	transcript	ENST00000372969.8	protein_coding		1447		chr1	TogoVar
NEB_chr2_151480339_151739476	151620345	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(26): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp1 HG00621.hp1 HG01074.hp2 HG01099.hp2 HG01192.hp2 HG01258.hp1 HG01358.hp2 HG02080.hp1 HG03139.hp2 HG03195.hp1 HG03688.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18952.hp1 NA18966.hp2 NA18980.hp1 NA18984.hp1 NA18991.hp1 NA19000.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19084.hp1 NA19088.hp1	a0001 a0005 a0012 others(15): Show a0001 a0005 a0012 a0045 a0052 a0061 a0070 a0071 a0072 a0073 a0089 a0090 a0115 a0116 a0123 a0128 a0129 a0133	a0001c0001 a0001c0082 a0005c0008 others(19): Show a0001c0001 a0001c0082 a0005c0008 a0005c0063 a0005c0064 a0012c0088 a0012c0090 a0045c0089 a0052c0100 a0061c0115 a0070c0123 a0071c0124 a0072c0121 a0073c0122 a0089c0036 a0090c0035 a0115c0053 a0116c0052 a0123c0034 a0128c0148 a0129c0022 a0133c0152	a0001c0001t0001 a0001c0082t0001 a0005c0008t0001 others(19): Show a0001c0001t0001 a0001c0082t0001 a0005c0008t0001 a0005c0063t0001 a0005c0064t0001 a0012c0088t0001 a0012c0090t0001 a0045c0089t0002 a0052c0100t0001 a0061c0115t0001 a0070c0123t0001 a0071c0124t0001 a0072c0121t0001 a0073c0122t0001 a0089c0036t0001 a0090c0035t0001 a0115c0053t0001 a0116c0052t0001 a0123c0034t0001 a0128c0148t0001 a0129c0022t0001 a0133c0152t0001	a0001c0001t0001g0097 a0001c0001t0001g0112 a0001c0001t0001g0117 others(26): Show a0001c0001t0001g0097 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0156 a0001c0082t0001g0147 a0005c0008t0001g0038 a0005c0008t0001g0077 a0005c0063t0001g0052 a0005c0064t0001g0083 a0012c0088t0001g0016 a0012c0090t0001g0005 a0045c0089t0002g0138 a0052c0100t0001g0142 a0061c0115t0001g0158 a0070c0123t0001g0116 a0071c0124t0001g0128 a0072c0121t0001g0143 a0073c0122t0001g0113 a0089c0036t0001g0053 a0090c0035t0001g0054 a0115c0053t0001g0084 a0116c0052t0001g0069 a0123c0034t0001g0082 a0128c0148t0001g0110 a0129c0022t0001g0114 a0133c0152t0001g0169	29	188	0.1543	-34	c.105 others(53): Show c.10560+540_10560+573delTATATATATATATATATATATATATA TATATACA	NEB	ENSG00000183091.21	transcript	ENST00000397345.8	protein_coding	72/181			chr2	TogoVar
NECAB1_chr8_90786775_90964393	90917936	ATGTGTGT others(27): Show ATGTGTGTATATATATACACACACACATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00621.hp2 others(109): Show HG00099.hp1 HG00423.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18948.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18985.hp1 NA18989.hp1 NA18991.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0035 a0001c0001t0036 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054	a0001c0001t0001g0006 a0001c0001t0001g0078 a0001c0001t0002g0007 others(109): Show a0001c0001t0001g0006 a0001c0001t0001g0078 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0029 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0112 a0001c0001t0002g0119 a0001c0001t0002g0192 a0001c0001t0002g0198 a0001c0001t0004g0045 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0244 a0001c0001t0005g0149 a0001c0001t0005g0177 a0001c0001t0006g0115 a0001c0001t0006g0145 a0001c0001t0006g0148 a0001c0001t0006g0154 a0001c0001t0006g0160 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0007g0001 a0001c0001t0007g0002 a0001c0001t0007g0003 a0001c0001t0007g0004 a0001c0001t0007g0024 a0001c0001t0007g0039 a0001c0001t0007g0073 a0001c0001t0007g0116 a0001c0001t0008g0044 a0001c0001t0008g0051 a0001c0001t0008g0054 a0001c0001t0008g0062 a0001c0001t0008g0105 a0001c0001t0008g0113 a0001c0001t0010g0060 a0001c0001t0011g0027 a0001c0001t0011g0034 a0001c0001t0011g0057 a0001c0001t0011g0071 a0001c0001t0011g0232 a0001c0001t0015g0019 a0001c0001t0015g0023 a0001c0001t0015g0053 a0001c0001t0015g0206 a0001c0001t0016g0100 a0001c0001t0016g0142 a0001c0001t0016g0143 a0001c0001t0016g0144 a0001c0001t0018g0133 a0001c0001t0018g0141 a0001c0001t0018g0173 a0001c0001t0020g0146 a0001c0001t0020g0161 a0001c0001t0020g0162 a0001c0001t0021g0174 a0001c0001t0021g0175 a0001c0001t0021g0176 a0001c0001t0023g0032 a0001c0001t0023g0165 a0001c0001t0023g0169 a0001c0001t0027g0016 a0001c0001t0027g0108 a0001c0001t0028g0126 a0001c0001t0028g0128 a0001c0001t0029g0131 a0001c0001t0029g0132 a0001c0001t0035g0130 a0001c0001t0036g0139 a0001c0001t0042g0178 a0001c0001t0043g0150 a0001c0001t0044g0125 a0001c0001t0046g0138 a0001c0001t0047g0059 a0001c0001t0048g0129 a0001c0001t0049g0217 a0001c0001t0050g0094 a0001c0001t0051g0065 a0001c0001t0052g0050 a0001c0001t0053g0010 a0001c0001t0054g0114	112	248	0.4516	-34	c.494 others(49): Show c.494+327_494+360delCACACACATATGTGTGTGTGTGTATATATA TACA	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NEDD4L_chr18_58039226_58406539	58291117	GACCCACG others(27): Show GACCCACGTGGTCACACAGAGAACCAGGCCGACCA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03130.hp2 HG02895.hp1 HG02897.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0017 a0001c0001t0007 a0001c0001t0017	a0001c0001t0007g0057 a0001c0001t0017g0085 a0001c0001t0017g0086 a0001c0001t0007g0057 a0001c0001t0017g0085 a0001c0001t0017g0086	3	118	0.0254	-34	c.298 others(53): Show c.298-24864_298-24831delACCCACGTGGTCACACAGAGAACCAG GCCGACCA	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	5/30			chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58375290	GCTGTTCT others(27): Show GCTGTTCTCCAGTGCCCTGTTCTCTAGTGCCTACC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0116 a0001c0004t0004g0116	1	118	0.0085	-34	c.235 others(53): Show c.2352+2045_2352+2078delTAGTGCCTACCCTGTTCTCCAGTGCC CTGTTCTC	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	24/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEK11_chr3_131021877_131355465	131203765	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01175.hp1 HG03654.hp1 HG00621.hp2 HG01175.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0100 a0001c0001t0001g0123 a0001c0001t0004g0124 a0001c0001t0001g0100 a0001c0001t0001g0123 a0001c0001t0004g0124	3	292	0.0103	-34	c.140 others(55): Show c.1400-24761_1400-24728delGTATATATATATATATATATATAT ATATATATAT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131203767	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 NA20300.hp2 others(1): Show HG00280.hp2 HG00733.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0135 others(1): Show a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0146	4	292	0.0137	-34	c.140 others(55): Show c.1400-24734_1400-24701delTATATATATATATATATATATATA TATATATATA	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK5_chr13_52028611_52134073	52063049	CCCCTCTC others(27): Show CCCCTCTCCCCACGGTCCCCCTCTCCCCACGGTCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0300 a0001c0004t0019g0300	1	334	0.0030	-34	c.197 others(53): Show c.1976-1130_1976-1097delAGACCGTGGGGAGAGGGGGACCGTGG GGAGAGGG	NEK5	ENSG00000197168.14	transcript	ENST00000684899.1	protein_coding	21/23			chr13	TogoVar
NEU3_chr11_74983933_75015907	74986198	TAAACATG others(27): Show TAAACATGACAGTTTATTTACCCTATTAATGGACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0055 a0001c0002t0003g0055	1	394	0.0025	-34	c.-28 others(45): Show c.-2862_-2829delAAACATGACAGTTTATTTACCCTATTAATGGACA	NEU3	ENSG00000162139.10	transcript	ENST00000294064.9	protein_coding		2734		chr11	TogoVar
NEU4_chr2_241804193_241822413	241805207	CCTTCCCT others(27): Show CCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 NA19005.hp1 HG02976.hp1 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0002 a0001c0001t0003 a0002c0003t0002	a0001c0001t0003g0182 a0002c0003t0002g0013 a0001c0001t0003g0182 a0002c0003t0002g0013	2	319	0.0063	-34	c.-40 others(45): Show c.-4070_-4037delCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3985		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806420	TCCCTCCC others(27): Show TCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	319	0.0031	-34	c.-28 others(45): Show c.-2857_-2824delCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2772		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807488	CCTTCCCT others(27): Show CCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	319	0.0031	-34	c.-17 others(45): Show c.-1789_-1756delCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1704		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807491	TCCCTCCC others(27): Show TCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0175 a0002c0003t0002g0175	1	319	0.0031	-34	c.-17 others(45): Show c.-1786_-1753delCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1701		chr2	TogoVar
NFASC_chr1_204823652_205027822	205025370	ACACACAC others(27): Show ACACACACACACACACACACACGCGCGCGCGCACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA19003.hp2 NA19009.hp2 others(1): Show NA18962.hp1 NA19003.hp2 NA19009.hp2 NA19054.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0006 a0001c0002t0006 a0002c0003t0006 a0001c0001t0006 a0001c0002t0006 a0002c0003t0006	a0001c0001t0006g0003 a0001c0001t0006g0168 a0001c0002t0006g0195 others(1): Show a0001c0001t0006g0003 a0001c0001t0006g0168 a0001c0002t0006g0195 a0002c0003t0006g0221	4	226	0.0177	-34	c.88 others(45): Show c.8832_*8865delCACACACACACACACACACACGCGCGCGCGCACG	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding		2549		chr1	TogoVar
NFASC_chr1_204865862_205027822	205025370	ACACACAC others(27): Show ACACACACACACACACACACACGCGCGCGCGCACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA19003.hp1 NA19009.hp2 others(1): Show NA18962.hp1 NA19003.hp1 NA19009.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0006 a0001c0001t0006 a0001c0002t0006	a0001c0001t0006g0024 a0001c0001t0006g0070 a0001c0001t0006g0258 others(1): Show a0001c0001t0006g0024 a0001c0001t0006g0070 a0001c0001t0006g0258 a0001c0002t0006g0129	4	264	0.0152	-34	c.88 others(45): Show c.8832_*8865delCACACACACACACACACACACGCGCGCGCGCACG	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding		2549		chr1	TogoVar
NFAT5_chr16_69560966_69709654	69627323	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp1 HG01167.hp2 others(28): Show HG00735.hp2 HG01074.hp1 HG01167.hp2 HG01192.hp1 HG01358.hp1 HG01516.hp1 HG02027.hp1 HG02257.hp1 HG02451.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02738.hp2 HG02809.hp2 HG03139.hp2 HG03669.hp2 HG03688.hp1 HG03927.hp2 HG04115.hp1 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18951.hp1 NA18972.hp1 NA18992.hp2 NA18994.hp1 NA19002.hp1 NA19030.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0030 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0059 a0001c0001t0062 a0003c0005t0001	a0001c0001t0001g0336 a0001c0001t0004g0184 a0001c0001t0005g0010 others(28): Show a0001c0001t0001g0336 a0001c0001t0004g0184 a0001c0001t0005g0010 a0001c0001t0005g0197 a0001c0001t0005g0239 a0001c0001t0005g0241 a0001c0001t0005g0243 a0001c0001t0005g0244 a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0005g0366 a0001c0001t0009g0318 a0001c0001t0030g0090 a0001c0001t0030g0371 a0001c0001t0053g0302 a0001c0001t0054g0225 a0001c0001t0055g0240 a0001c0001t0057g0245 a0001c0001t0059g0238 a0001c0001t0062g0237 a0003c0005t0001g0132 a0003c0005t0001g0133	31	380	0.0816	-34	c.253 others(49): Show c.253+822_253+855delATATATATATATATATATATATATATATAT ATAT	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC1_chr18_79390930_79534323	79395630	GCCCCCCC others(27): Show GCCCCCCCTCCCCGGGCGCCCCCCTCCCCGGGCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0012 a0001c0004t0002g0012	1	322	0.0031	-34	c.-59 others(43): Show c.-594_-561delCCCCCCCTCCCCGGGCGCCCCCCTCCCCGGGCGC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		299		chr18	TogoVar
NFATC2_chr20_51381963_51547719	51396034	GTATGTAT others(27): Show GTATGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01109.hp2 HG01884.hp2 others(7): Show HG00438.hp2 HG01109.hp2 HG01884.hp2 HG02451.hp1 HG02559.hp2 HG02723.hp1 HG03540.hp2 HG04115.hp2 NA18995.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0028 a0001c0001t0029 a0001c0001t0047 a0001c0002t0024 a0001c0012t0054	a0001c0001t0002g0257 a0001c0001t0003g0134 a0001c0001t0004g0184 others(7): Show a0001c0001t0002g0257 a0001c0001t0003g0134 a0001c0001t0004g0184 a0001c0001t0006g0035 a0001c0001t0007g0208 a0001c0001t0028g0204 a0001c0001t0029g0243 a0001c0001t0047g0007 a0001c0002t0024g0228 a0001c0012t0054g0018	10	316	0.0317	-34	c.44 others(51): Show c.44+2575_*44+2608delTATATATATATATATATATATATATATA TACATA	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	10/10			chr20	TogoVar
NFIA_chr1_61077561_61467788	61200034	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01361.hp2 HG02155.hp1 others(9): Show HG00140.hp1 HG01361.hp2 HG02155.hp1 HG02280.hp2 HG02647.hp1 HG03139.hp2 HG03486.hp2 HG03669.hp1 HG06807.hp1 NA18968.hp1 NA19007.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(8): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0031 a0001c0001t0036 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0017 a0001c0002t0056	a0001c0001t0001g0055 a0001c0001t0008g0123 a0001c0001t0012g0018 others(9): Show a0001c0001t0001g0055 a0001c0001t0008g0123 a0001c0001t0012g0018 a0001c0001t0013g0034 a0001c0001t0031g0007 a0001c0001t0036g0009 a0001c0001t0037g0121 a0001c0002t0001g0016 a0001c0002t0001g0101 a0001c0002t0002g0052 a0001c0002t0017g0005 a0001c0002t0056g0126	12	156	0.0769	-34	c.560 others(53): Show c.560-77482_560-77449delATATATATATATATATATATATATAT ATATGTAT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIB_chr9_14076848_14319141	14216516	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01981.hp2 HG02630.hp1 others(4): Show HG00639.hp1 HG01981.hp2 HG02630.hp1 NA18971.hp2 NA18985.hp2 NA19000.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 others(3): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0025	a0001c0001t0002g0223 a0001c0001t0007g0193 a0001c0001t0012g0242 others(4): Show a0001c0001t0002g0223 a0001c0001t0007g0193 a0001c0001t0012g0242 a0001c0001t0017g0024 a0001c0001t0017g0025 a0001c0001t0019g0072 a0001c0001t0025g0062	7	304	0.0230	-34	c.563 others(53): Show c.563-36770_563-36737delCACAGAGGGAGAGAGAGAGAGAGAGA GAGAGAGA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14216524	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCCCTCTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0290 a0001c0001t0087g0290	1	304	0.0033	-34	c.563 others(53): Show c.563-36778_563-36745delCACACACACACAGAGGGAGAGAGAGA GAGAGAGA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFILZ_chr19_8625633_8686151	8656465	AAGCCCAC others(27): Show AAGCCCACCTTCTCCCGCAGCCCACCTTCTCCCGC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19240.hp2 HG02257.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0031 a0004c0004t0053 a0001c0001t0031 a0004c0004t0053	a0001c0001t0031g0334 a0004c0004t0053g0096 a0001c0001t0031g0334 a0004c0004t0053g0096	2	366	0.0055	-34	c.-16 others(55): Show c.-163-18071_-163-18038delCGCAGCCCACCTTCTCCCGCAGCC CACCTTCTCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8669626	TGTCCTCA others(27): Show TGTCCTCACTGAAACAAGTGGAAGTATCTGGGGAC	T T	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0043 a0001c0001t0009g0043	1	366	0.0027	-34	c.-16 others(53): Show c.-163-4924_-163-4891delGTCCTCACTGAAACAAGTGGAAGTAT CTGGGGAC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5			chr19	TogoVar
NGEF_chr2_232873701_233018256	232995296	ATGTGTAC others(27): Show ATGTGTACAGTATGTATACTGTATATGTGTACAGT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0002 a0002c0014t0002	a0002c0014t0002g0071 a0002c0014t0002g0071	1	362	0.0028	-34	c.-75 others(53): Show c.-75+17738_-75+17771delACTGTACACATATACAGTATACATAC TGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGLY1_chr3_25713944_25788443	25760860	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18983.hp1 NA18994.hp2 others(6): Show HG02451.hp1 NA18983.hp1 NA18994.hp2 NA19005.hp2 NA19006.hp2 NA19066.hp2 NA19074.hp2 NA19085.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 others(6): Show a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0066	9	264	0.0341	-34	c.492 others(51): Show c.492+3172_492+3205delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding	3/11			chr3	TogoVar
NHEJ1_chr2_219064357_219165815	219159554	TATATATA others(27): Show TATATATATGCATATATATATGCATATATATATGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02258.hp1 others(10): Show HG01884.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02886.hp2 HG03471.hp1 HG03540.hp2 NA18522.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0001 a0002c0002t0006 a0002c0002t0024 a0001c0004t0001 a0002c0002t0006 a0002c0002t0024	a0001c0004t0001g0155 a0002c0002t0006g0124 a0002c0002t0006g0125 others(10): Show a0001c0004t0001g0155 a0002c0002t0006g0124 a0002c0002t0006g0125 a0002c0002t0006g0126 a0002c0002t0006g0127 a0002c0002t0006g0146 a0002c0002t0006g0147 a0002c0002t0006g0148 a0002c0002t0006g0149 a0002c0002t0006g0150 a0002c0002t0006g0151 a0002c0002t0024g0128 a0002c0002t0024g0129	13	350	0.0371	-34	c.-1+ others(49): Show c.-1+1132_-1+1165delGCATATATATATGCATATATATATGCATAT ATAT	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	1/7			chr2	TogoVar
NHSL2_chrX_71905845_72158286	71964011	GTATATAT others(27): Show GTATATATATATATGTGTATATATATATATATGTA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0060 a0002c0002t0002g0060	1	187	0.0054	-34	c.280 others(53): Show c.280+52656_280+52689delATGTGTATATATATATATATGTATAT ATATATAT	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NIBAN2_chr9_127500343_127574073	127523186	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0138 a0001c0001t0005g0110 a0001c0001t0001g0138 a0001c0001t0005g0110	2	332	0.0060	-34	c.589 others(49): Show c.589+459_589+492delATATATATATATATATATATATATATATTT TTTT	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13			chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127523188	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03486.hp1 HG01346.hp1 HG03486.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0006 a0004c0008t0029 a0001c0001t0006 a0004c0008t0029	a0001c0001t0006g0049 a0004c0008t0029g0103 a0001c0001t0006g0049 a0004c0008t0029g0103	2	332	0.0060	-34	c.589 others(49): Show c.589+457_589+490delATATATATATATATATATATATATATATAT TTTT	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13			chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127523192	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0037 a0001c0001t0006g0037	1	332	0.0030	-34	c.589 others(49): Show c.589+453_589+486delATATATATATATATATATATATATATATAT ATAT	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13			chr9	TogoVar
NID1_chr1_235970830_236070090	236011751	TGGGCCAT others(27): Show TGGGCCATGTGCTCTGGATTCATGGACAGGGCAAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp1 HG01496.hp2 others(24): Show HG01106.hp2 HG01109.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG02040.hp2 HG02074.hp1 HG02109.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02615.hp1 HG02723.hp1 HG02922.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18982.hp2 NA19043.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0008 a0012 a0015 a0018 a0019 a0028 a0032 a0034	a0001c0001 a0002c0002 a0002c0065 others(11): Show a0001c0001 a0002c0002 a0002c0065 a0003c0007 a0004c0005 a0008c0023 a0012c0022 a0015c0037 a0015c0064 a0018c0032 a0019c0026 a0028c0038 a0032c0048 a0034c0051	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(17): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0002c0002t0001 a0002c0002t0003 a0002c0065t0003 a0003c0007t0001 a0003c0007t0003 a0003c0007t0006 a0004c0005t0004 a0008c0023t0001 a0012c0022t0004 a0015c0037t0001 a0015c0064t0003 a0018c0032t0001 a0019c0026t0001 a0028c0038t0001 a0032c0048t0001 a0034c0051t0001	a0001c0001t0002g0146 a0001c0001t0002g0171 a0001c0001t0004g0314 others(24): Show a0001c0001t0002g0146 a0001c0001t0002g0171 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0007g0300 a0001c0001t0009g0019 a0002c0002t0001g0317 a0002c0002t0003g0299 a0002c0065t0003g0330 a0003c0007t0001g0027 a0003c0007t0001g0101 a0003c0007t0001g0127 a0003c0007t0003g0113 a0003c0007t0006g0286 a0004c0005t0004g0071 a0008c0023t0001g0016 a0012c0022t0004g0008 a0015c0037t0001g0313 a0015c0064t0003g0320 a0018c0032t0001g0326 a0018c0032t0001g0329 a0019c0026t0001g0249 a0019c0026t0001g0250 a0028c0038t0001g0302 a0032c0048t0001g0307 a0034c0051t0001g0093	27	334	0.0808	-34	c.252 others(51): Show c.2527+136_2527+169delGTTGCCCTGTCCATGAATCCAGAGCACA TGGCCC	NID1	ENSG00000116962.15	transcript	ENST00000264187.7	protein_coding	12/19			chr1	TogoVar
NID1_chr1_235970830_236070090	236038806	TATATTAC others(27): Show TATATTACCTATGTTATATAGGTCATATATAATAA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0310 a0001c0006t0002g0310	1	334	0.0030	-34	c.113 others(51): Show c.1136-587_1136-554delTTATTATATATGACCTATATAACATAGG TAATAT	NID1	ENSG00000116962.15	transcript	ENST00000264187.7	protein_coding	4/19			chr1	TogoVar
NID2_chr14_51999809_52074059	52030490	AAAGAAAG others(27): Show AAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0203 a0001c0007t0002g0203	1	372	0.0027	-34	c.225 others(51): Show c.2258-834_2258-801delCTTTCTTTTCTTTCTTTCTTTCTCTTTC TTTCTT	NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21			chr14	TogoVar
NINJ2_chr12_559296_668445	609260	GCACGCAC others(27): Show GCACGCACGGCGCCACGCGCTAGGTGCTGAACGCA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01884.hp2 HG02055.hp2 others(19): Show HG00673.hp1 HG01884.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 NA18943.hp2 NA18953.hp2 NA18960.hp2 NA18975.hp1 NA18988.hp1 NA19004.hp1 NA19010.hp1 NA19012.hp2 NA19057.hp1 NA19064.hp2 NA19085.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0141 others(19): Show a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0202 a0001c0001t0001g0323 a0001c0001t0001g0371 a0001c0001t0001g0380 a0001c0001t0002g0145 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0385	22	404	0.0545	-34	c.34- others(51): Show c.34-43116_34-43083delTGCGTTCAGCACCTAGCGCGTGGCGCCG TGCGTG	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NKAIN2_chr6_123798865_124830640	123938419	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG02717.hp1 others(3): Show HG01243.hp2 HG02615.hp2 HG02717.hp1 HG02965.hp1 HG03130.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0009 a0001c0003t0003	a0001c0001t0005g0031 a0001c0001t0006g0016 a0001c0001t0007g0046 others(3): Show a0001c0001t0005g0031 a0001c0001t0006g0016 a0001c0001t0007g0046 a0001c0002t0001g0008 a0001c0002t0009g0050 a0001c0003t0003g0037	6	66	0.0909	-34	c.54+ others(53): Show c.54+134167_54+134200delTATATATATATATATATATATATATA TATATACA	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	123976338	TATATGTT others(27): Show TATATGTTCCCATATATATATATATATATATTCCC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03130.hp1 HG03139.hp1 HG02896.hp1 HG03130.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0002t0004 a0001c0001t0004 a0001c0001t0005 a0001c0002t0004	a0001c0001t0004g0059 a0001c0001t0005g0031 a0001c0002t0004g0063 a0001c0001t0004g0059 a0001c0001t0005g0031 a0001c0002t0004g0063	3	66	0.0455	-34	c.54+ others(53): Show c.54+172089_54+172122delGTTCCCATATATATATATATATATAT TCCCATAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKX2-1_chr14_36511397_36525232	36524279	TAAGCCGG others(27): Show TAAGCCGGGCTGAGCTGGGCTCGCGAGTGCCATCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	426	0.0024	-34	c.-41 others(45): Show c.-4184_-4151delCGATGGCACTCGCGAGCCCAGCTCAGCCCGGCTT	NKX2-1	ENSG00000136352.20	transcript	ENST00000354822.7	protein_coding		4048		chr14	TogoVar
NKX6-2_chr10_132778181_132791147	132789586	GGGTCTGA others(27): Show GGGTCTGAAAGGCCATGAGCGCTGAGGGCTGGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	-34	c.-36 others(45): Show c.-3672_-3639delACCCCAGCCCTCAGCGCTCATGGCCTTTCAGACC	NKX6-2	ENSG00000148826.9	transcript	ENST00000368592.8	protein_coding		3440		chr10	TogoVar
NLGN1_chr3_173392744_174299372	174297417	CTATTCTT others(27): Show CTATTCTTTTTGCCTAAATTTTATCCTTTCCAATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	44	0.0227	-34	c.16 others(47): Show c.16115_*16148delTATTCTTTTTGCCTAAATTTTATCCTTTCCAA TT	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding		3046		chr3	TogoVar

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