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
NAB1_chr2_190644083_190697766	190690012	C C	CTATACAT others(95): Show CTATACATATATGTATAGTATACATATATGTATACTATACATATATGTAT AGTATACATATATGTATAGTATACATATATGTATAGTATACATATATGTA TAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	374	0.0027	102	c.137 others(119): Show c.1376-217_1376-216insGTATACATATATGTATACTATACATATA TGTATAGTATACATATATGTATAGTATACATATATGTATAGTATACATAT ATGTATAGTATACATATATGTATA	NAB1	ENSG00000138386.17	transcript	ENST00000337386.10	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
NAB1_chr2_190644083_190697766	190690012	C C	CTATACAT others(95): Show CTATACATATATGTATAGTATACATATATGTATAGTATACATATATGTAT AGTATACATATATGTATACTATACATATATGTATAGTATACATATATGTA TAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	374	0.0027	102	c.137 others(119): Show c.1376-217_1376-216insGTATACATATATGTATAGTATACATATA TGTATAGTATACATATATGTATACTATACATATATGTATAGTATACATAT ATGTATAGTATACATATATGTATA	NAB1	ENSG00000138386.17	transcript	ENST00000337386.10	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
NAB1_chr2_190644083_190697766	190690012	C C	CTATACAT others(95): Show CTATACATATATGTATAGTATACATATATGTATAGTATACATATATGTAT AGTATACATATATGTATAGTATACATATATGTATAGTATACATATATGTA TAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(48): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00673.hp1 HG00741.hp2 HG01074.hp1 HG01255.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01975.hp2 HG02055.hp1 HG02083.hp2 HG02165.hp2 HG02257.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp2 NA18612.hp1 NA18946.hp2 NA18948.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18969.hp2 NA18970.hp1 NA18975.hp1 NA18978.hp2 NA18980.hp2 NA18986.hp1 NA18988.hp1 NA18991.hp1 NA18999.hp2 NA19003.hp1 NA19005.hp1 NA19010.hp1 NA19056.hp2 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19072.hp1 NA19084.hp1 NA19085.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025 a0001c0001t0030	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0016 others(28): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0080 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0008g0098 a0001c0001t0010g0002 a0001c0001t0025g0040 a0001c0001t0030g0008	51	374	0.1364	102	c.137 others(119): Show c.1376-217_1376-216insGTATACATATATGTATAGTATACATATA TGTATAGTATACATATATGTATAGTATACATATATGTATAGTATACATAT ATGTATAGTATACATATATGTATA	NAB1	ENSG00000138386.17	transcript	ENST00000337386.10	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCAM2_chr21_20993409_21548329	21265015	T T	TTATATAT others(95): Show TTATATATGTGTATATGTATATATACACATATATATTATATATGTGTCTG TATATATATACACATATATATTATATATATGTGTCTGTGTATATATATAC ACA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18955.hp2 NA18979.hp1 others(1): Show HG03041.hp1 NA18955.hp2 NA18979.hp1 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0002t0019 a0002c0003t0005 others(1): Show a0002c0002t0001 a0002c0002t0019 a0002c0003t0005 a0002c0003t0006	a0002c0002t0001g0078 a0002c0002t0019g0034 a0002c0003t0005g0008 others(1): Show a0002c0002t0001g0078 a0002c0002t0019g0034 a0002c0003t0005g0008 a0002c0003t0006g0031	4	132	0.0303	102	c.56- others(119): Show c.56-15552_56-15551insATATGTATATATACACATATATATTATA TATGTGTCTGTATATATATACACATATATATTATATATATGTGTCTGTGT ATATATATACACATATATATGTGT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331565	A A	ATATATAT others(95): Show ATATATATATACTCTATATATATATATATATACTCTATATATATATATAT ACTCTCTCTCTCTCCATATATATATATATATATACTCTCTCTCTCTCTCT CTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0100 a0002c0002t0003g0100	1	132	0.0076	102	c.738 others(119): Show c.738-3938_738-3937insTATATATACTCTATATATATATATATAT ACTCTATATATATATATATACTCTCTCTCTCTCCATATATATATATATAT ATACTCTCTCTCTCTCTCTCTCTA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21411105	T T	TATATATG others(95): Show TATATATGTGTATATATATATACATATATATGTGTATATATATATACACA TATATATGTGTATATATACATATATATACATATATGTGTGTATATATACA CAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0131 a0001c0001t0020g0131	1	132	0.0076	102	c.138 others(119): Show c.1383+652_1383+653insGTATATATATATACATATATATGTGTAT ATATATATACACATATATATGTGTATATATACATATATATACATATATGT GTGTATATATACACACATATATGT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCK1_chr3_136857208_136956606	136893196	A A	ACACACAC others(95): Show ACACACACACACACACCATATTTTCTTTACCCATTCGTTAATTGATGGAC ATTTGGGCTGGTTCCATATTTTTGCAGTTGTGAATTGTGCTGCTGTAAAC ATG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03491.hp2 HG02738.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0013 a0001c0001t0001g0032	2	232	0.0086	102	c.-19 others(121): Show c.-19+30845_-19+30846insCACACACACACACCATATTTTCTTTA CCCATTCGTTAATTGATGGACATTTGGGCTGGTTCCATATTTTTGCAGTT GTGAATTGTGCTGCTGTAAACATGCA	NCK1	ENSG00000158092.7	transcript	ENST00000481752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCK2_chr2_105739912_105899272	105835388	C C	CATATATA others(95): Show CATATATATATACATATATATATATGTATGTATATGTATATATATATACG TATATATATATATACGTATATATATATATATATATATACGTATGTATATA TAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0221 a0001c0001t0005g0221	1	334	0.0030	102	c.-17 others(121): Show c.-17+18786_-17+18787insCATATATATATATGTATGTATATGTA TATATATATACGTATATATATATATACGTATATATATATATATATATATA CGTATGTATATATATATATATATATA	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCK2_chr2_105739912_105899272	105835388	C C	CATATATA others(95): Show CATATATATATACATATATATATATGTATGTATATGTATATATATATACG TATATATATATATATACGTATATATATATATATATATACGTATGTATATA TAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01515.hp1 HG01517.hp2 others(4): Show HG01261.hp2 HG01515.hp1 HG01517.hp2 HG02523.hp1 HG02602.hp1 NA18522.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011	a0001c0001t0005g0011 a0001c0001t0005g0015 a0001c0001t0005g0017 others(4): Show a0001c0001t0005g0011 a0001c0001t0005g0015 a0001c0001t0005g0017 a0001c0001t0005g0162 a0001c0001t0005g0170 a0001c0001t0008g0175 a0001c0001t0011g0072	7	334	0.0210	102	c.-17 others(121): Show c.-17+18786_-17+18787insCATATATATATATGTATGTATATGTA TATATATATACGTATATATATATATATACGTATATATATATATATATATA CGTATGTATATATATATATATATATA	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCK2_chr2_105739912_105899272	105835388	C C	CGTATATA others(95): Show CGTATATATATGTATATATATATACGTGTATATATATGTGTATATATATA TATATACGTGTATATATATGTATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	334	0.0030	102	c.-17 others(121): Show c.-17+18775_-17+18776insGTATATATATGTATATATATATACGT GTATATATATGTGTATATATATATATATACGTGTATATATATGTATATAT ATATATATATATATATATATATATAT	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4			chr2	TogoVar
NCK2_chr2_105739912_105899272	105835402	T T	TATATATA others(95): Show TATATATATATGTATGTATATGTATATATATATACGTATATATATATATA TACGTATATATATATATATATATACGTATGTATATATATATATATATATA CAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03831.hp1 HG01074.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0018 a0001c0001t0005g0016 a0001c0001t0005g0018	2	334	0.0060	102	c.-17 others(121): Show c.-17+18792_-17+18793insTATATATGTATGTATATGTATATATA TATACGTATATATATATATATACGTATATATATATATATATATACGTATG TATATATATATATATATATACACATA	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOA1_chr2_24486254_24775702	24516977	C C	CATATACG others(95): Show CATATACGTATATATACGTGTATATATACGTATATATACACATATACGTA TATATACACGTATATATACGTATATATACACATATACGTATATATACGTG TAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	314	0.0032	102	c.-39 others(123): Show c.-396+25390_-396+25391insCGTGTATATATACGTATATATACA CATATACGTATATATACACGTATATATACGTATATATACACATATACGTA TATATACGTGTATATATACGTATATATA	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOA1_chr2_24486254_24775702	24516977	C C	CATATACG others(95): Show CATATACGTATATATACGTGTATATATACGTATATATACACATATACGTA TATATACGTGTATATATACGTATATATACACATATACGTATATATACACG TAT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0236	1	314	0.0032	102	c.-39 others(123): Show c.-396+25390_-396+25391insCGTGTATATATACGTATATATACA CATATACGTATATATACGTGTATATATACGTATATATACACATATACGTA TATATACACGTATATATACGTATATATA	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOA1_chr2_24486254_24775702	24516977	C C	CATATACG others(95): Show CATATACGTATATATACGTGTATATATACGTATATATACACATATACGTA TATATACGTGTATATATACGTATATATACACATATACGTATATATACGTG TAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(91): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG02004.hp1 HG02027.hp1 HG02080.hp1 HG02132.hp1 HG02145.hp1 HG02258.hp1 HG02300.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02970.hp2 HG03017.hp2 HG03239.hp1 HG03491.hp1 HG03710.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18955.hp1 NA18960.hp1 NA18962.hp2 NA18968.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18993.hp2 NA18994.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19083.hp1 NA19085.hp1 NA19091.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0006t0001 a0001c0007t0001 a0001c0011t0001 a0001c0012t0004	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(91): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0124 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0005g0223 a0001c0001t0005g0228 a0001c0001t0005g0238 a0001c0001t0005g0242 a0001c0001t0005g0246 a0001c0001t0007g0235 a0001c0001t0007g0249 a0001c0001t0007g0309 a0001c0001t0013g0240 a0001c0001t0018g0016 a0001c0001t0021g0296 a0001c0006t0001g0262 a0001c0007t0001g0297 a0001c0011t0001g0261 a0001c0012t0004g0248	94	314	0.2994	102	c.-39 others(123): Show c.-396+25390_-396+25391insCGTGTATATATACGTATATATACA CATATACGTATATATACGTGTATATATACGTATATATACACATATACGTA TATATACGTGTATATATACGTATATATA	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(95): Show GGGGGTCAGCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGAGG TGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGA GGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02055.hp1 HG02109.hp2 others(2): Show HG01256.hp2 HG02055.hp1 HG02109.hp2 HG02523.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0002 a0001c0004t0028 a0001c0007t0002 a0001c0001t0002 a0001c0004t0028 a0001c0007t0002	a0001c0001t0002g0178 a0001c0001t0002g0199 a0001c0001t0002g0237 others(2): Show a0001c0001t0002g0178 a0001c0001t0002g0199 a0001c0001t0002g0237 a0001c0004t0028g0177 a0001c0007t0002g0194	5	282	0.0177	102	c.282 others(121): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGTGGCT GGCGGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(95): Show GGGGGTCAGCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGAGGT GGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGA GGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp1 HG03041.hp2 HG02559.hp1 HG02965.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0021	3	282	0.0106	102	c.282 others(121): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGTGGC TGGCGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(95): Show GGGGGTCAGCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGAGGT GGGGGGGGGGTCAGCCCCCCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGA GGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03486.hp2 HG03453.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0133 a0001c0001t0012g0029 a0001c0001t0001g0133 a0001c0001t0012g0029	2	282	0.0071	102	c.282 others(121): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGTGGC TGGCGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(95): Show GGGGGTCAGCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGAGGT GGGGGGGGTGTCAGCCCCCCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGA GGT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0050 a0001c0001t0011g0050	1	282	0.0036	102	c.282 others(121): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGATGGGGTGGC TGGCGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095670	G G	GGTCAGCC others(95): Show GGTCAGCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGAGGTGG GGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGT GGT	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18980.hp1 HG04228.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0151 a0001c0001t0022g0160 a0001c0001t0002g0151 a0001c0001t0022g0160	2	282	0.0071	102	c.282 others(121): Show c.2820+2696_2820+2697insACCACCTCCCTCCCGGACGGGGCGGC TGGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGTG GCTGGCGGGGGGGGGGGGGGGCTGAC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCR1_chr19_54901148_54918073	54903371	T T	TGTACACA others(95): Show TGTACACACATATGTATGTATACATGCATGCATGTATGTGTACACACATA TGTATGTATACATGCATGCATGTATGTGTACACACATATGTATGTATACA TGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18998.hp2 NA18971.hp1 NA18998.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0007 a0003c0004t0006g0041 a0003c0004t0006g0007 a0003c0004t0006g0041	2	457	0.0044	102	c.-28 others(113): Show c.-2817_-2816insGTACACACATATGTATGTATACATGCATGCATGT ATGTGTACACACATATGTATGTATACATGCATGCATGTATGTGTACACAC ATATGTATGTATACATGC	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding		2776		chr19	TogoVar
NCR1_chr19_54901148_54918073	54903371	T T	TGTACACA others(95): Show TGTACACATATATGTATGTATACATGCATGCATGTATGTGTACACACATA TGTATGTATACATGCATGCATGTATGTGTACACACATATGTATGTATACA TGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG01081.hp1 others(30): Show HG00423.hp1 HG00673.hp1 HG01081.hp1 HG01175.hp1 HG01255.hp2 HG01515.hp1 HG01975.hp1 HG02056.hp2 HG02074.hp2 HG02698.hp1 HG02886.hp1 HG03041.hp1 HG03471.hp2 HG03490.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18967.hp2 NA18972.hp1 NA18979.hp1 NA18992.hp2 NA18993.hp2 NA19054.hp1 NA19063.hp2 NA19080.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0005 a0002c0002t0004 a0003c0004t0006	a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0049 others(19): Show a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0141 a0001c0001t0001g0155 a0001c0001t0003g0017 a0001c0003t0001g0020 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0107 a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0005g0020 a0001c0003t0005g0123 a0002c0002t0004g0026 a0003c0004t0006g0007 a0003c0004t0006g0019 a0003c0004t0006g0041 a0003c0004t0006g0111 a0003c0004t0006g0112 a0003c0004t0006g0122 a0003c0004t0006g0127	33	457	0.0722	102	c.-28 others(113): Show c.-2817_-2816insGTACACATATATGTATGTATACATGCATGCATGT ATGTGTACACACATATGTATGTATACATGCATGCATGTATGTGTACACAC ATATGTATGTATACATGC	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding		2776		chr19	TogoVar
NCR1_chr19_54901148_54918073	54903371	T T	TGTACACA others(95): Show TGTACACATATATGTATGTATGCATGCATGCATGTATGTGTACACACATA TGTATGTATACATGCATGCATGTATGTGTACACACATATGTATGTATACA TGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0105 a0001c0003t0001g0105	1	457	0.0022	102	c.-28 others(113): Show c.-2817_-2816insGTACACATATATGTATGTATGCATGCATGCATGT ATGTGTACACACATATGTATGTATACATGCATGCATGTATGTGTACACAC ATATGTATGTATACATGC	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding		2776		chr19	TogoVar
NDUFA10_chr2_239952372_240030342	240004591	C C	CCCATTCC others(95): Show CCCATTCCGCCATGGCCTCCTCTCCTAGTCCTGCTCCATTCCGCCATGGC CTCCTCTCCTAGTCCTGCTCCATTCCGCCATGGCCTCCTCTCCTAGTCCT GCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02818.hp2 HG06807.hp2 HG02723.hp1 HG02818.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0243 a0001c0002t0016g0244 a0001c0002t0016g0245 a0001c0002t0016g0243 a0001c0002t0016g0244 a0001c0002t0016g0245	3	412	0.0073	102	c.890 others(117): Show c.890+618_890+619insAGCAGGACTAGGAGAGGAGGCCATGGCGGA ATGGAGCAGGACTAGGAGAGGAGGCCATGGCGGAATGGAGCAGGACTAGG AGAGGAGGCCATGGCGGAATGG	NDUFA10	ENSG00000130414.13	transcript	ENST00000252711.7	protein_coding	8/9			chr2	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TATTATAT others(95): Show TATTATATAATATATAATATATTATATAATATATATTATATAATATATAA TATATTATATAAATATATATTATATAATATATAATATATTATATAAATAT ATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0058 a0002c0002t0014g0058	1	348	0.0029	102	c.48+ others(117): Show c.48+1020_48+1021insATTATATAATATATAATATATTATATAATA TATATTATATAATATATAATATATTATATAAATATATATTATATAATATA TAATATATTATATAAATATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
NEK10_chr3_27101484_27374383	27282548	A A	ATATATAT others(95): Show ATATATATATATACACATAACTGTGTTATATATATATATATATATACATA ACTGTGTTATATATATATACATAACTGTGTTATATATATATACATAACTG TGT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0080 a0001c0002t0004g0080	1	234	0.0043	102	c.201 others(121): Show c.2014+2053_2014+2054insACACAGTTATGTATATATATATAACA CAGTTATGTATATATATATAACACAGTTATGTATATATATATATATATAT AACACAGTTATGTGTATATATATATA	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	22/35			chr3	TogoVar
NEK10_chr3_27101484_27374383	27282548	A A	ATATATAT others(95): Show ATATATATATATATATACATAACTGTGTTTTATATATATATATACACATA ACTGTGTTATATATATATACATAACTGTGTTATATATATATACATAACTG TGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01255.hp2 HG01928.hp1 others(2): Show HG00735.hp1 HG01255.hp2 HG01928.hp1 HG01943.hp2 HG02004.hp2	a0002 a0009 a0002 a0009	a0002c0003 a0009c0016 a0002c0003 a0009c0016	a0002c0003t0002 a0009c0016t0002 a0002c0003t0002 a0009c0016t0002	a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0033 others(2): Show a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0033 a0002c0003t0002g0034 a0009c0016t0002g0007	5	234	0.0214	102	c.201 others(121): Show c.2014+2053_2014+2054insACACAGTTATGTATATATATATAACA CAGTTATGTATATATATATAACACAGTTATGTGTATATATATATATAAAA CACAGTTATGTATATATATATATATA	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	22/35			chr3	TogoVar
NEXN_chr1_77883624_77948895	77888009	T T	TTCTTCTT others(95): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTC TTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0151 a0001c0001t0010g0151	1	268	0.0037	102	c.-80 others(111): Show c.-803_-802insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTTCTTCTTCTTC	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		614		chr1	TogoVar
NFIA_chr1_61077561_61467788	61466708	T T	TATATACA others(95): Show TATATACATATATATATACATATATATATACATATATATACATATATATA CATATATATATACATATATATACATATATATACATATATATACATATATA TAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 NA19005.hp2 HG01358.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0019 a0001c0001t0001 a0001c0002t0019	a0001c0001t0001g0059 a0001c0002t0019g0152 a0001c0001t0001g0059 a0001c0002t0019g0152	2	156	0.0128	102	c.11 others(115): Show c.11388_*11389insATATACATATATATATACATATATATATACAT ATATATACATATATATACATATATATATACATATATATACATATATATAC ATATATATACATATATATAC	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding		3921		chr1	TogoVar
NGEF_chr2_232873701_233018256	232995569	T T	TATATACA others(95): Show TATATACAGTATGTATACTATATATATACAGTATGTATACTATATATACA CAGTATGTATACTATATATATACAGTATATACTATATATATACAGTATGT ATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18942.hp2 NA18948.hp1 others(3): Show HG00544.hp1 NA18942.hp2 NA18948.hp1 NA18967.hp2 NA18975.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0012 a0001c0004t0003 others(1): Show a0001c0001t0002 a0001c0002t0012 a0001c0004t0003 a0001c0004t0014	a0001c0001t0002g0188 a0001c0002t0012g0068 a0001c0004t0003g0189 others(3): Show a0001c0001t0002g0188 a0001c0002t0012g0068 a0001c0004t0003g0189 a0001c0004t0003g0194 a0001c0004t0014g0187 a0001c0004t0014g0208	6	362	0.0166	102	c.-75 others(121): Show c.-75+17498_-75+17499insTATACATACTGTATATATATAGTATA TACTGTATATATATAGTATACATACTGTGTATATATAGTATACATACTGT ATATATATAGTATACATACTGTATAT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995572	A A	ATACAGTA others(95): Show ATACAGTATGTATACTATATATATACAGTATGTATACTATATATACACAG TATGTATACTATATATATACAGTATGTATACTATATATATACAGTATGTA TAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp1 HG00741.hp1 others(27): Show HG00544.hp2 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01884.hp2 HG02056.hp1 HG02129.hp2 HG02602.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp2 NA18940.hp2 NA18954.hp2 NA18962.hp2 NA18964.hp1 NA18970.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18992.hp1 NA19000.hp2 NA19004.hp1 NA19070.hp2 NA19082.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0006 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0002t0003 a0001c0002t0012 a0001c0003t0005 a0001c0004t0003 a0001c0004t0004 a0001c0005t0006 a0001c0007t0001 a0002c0006t0002 a0002c0014t0002	a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0002g0166 others(27): Show a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0002g0166 a0001c0001t0002g0228 a0001c0001t0006g0177 a0001c0001t0006g0207 a0001c0001t0006g0347 a0001c0001t0008g0135 a0001c0001t0008g0230 a0001c0001t0008g0345 a0001c0001t0009g0203 a0001c0002t0003g0127 a0001c0002t0003g0167 a0001c0002t0003g0211 a0001c0002t0012g0200 a0001c0003t0005g0066 a0001c0003t0005g0162 a0001c0003t0005g0169 a0001c0003t0005g0170 a0001c0003t0005g0214 a0001c0003t0005g0344 a0001c0004t0003g0168 a0001c0004t0003g0205 a0001c0004t0004g0220 a0001c0005t0006g0164 a0001c0007t0001g0046 a0001c0007t0001g0155 a0001c0007t0001g0204 a0002c0006t0002g0354 a0002c0014t0002g0355	30	362	0.0829	102	c.-75 others(121): Show c.-75+17495_-75+17496insGTATACATACTGTATATATATAGTAT ACATACTGTATATATATAGTATACATACTGTGTATATATAGTATACATAC TGTATATATATAGTATACATACTGTA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NINJ2_chr12_559296_668445	577430	C C	CATATATA others(95): Show CATATATATATGTATATATATATATACATATATATATGTATATATATATA TATACATATATATATGTATATATATATATATATACATATATATATGTATA TAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	404	0.0025	102	c.34- others(119): Show c.34-11253_34-11252insATATATACATATATATATGTATATATAT ATATATATACATATATATATGTATATATATATATATACATATATATATGT ATATATATATATACATATATATAT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NLRP5_chr19_55994726_56066810	55998708	G G	GTATATAT others(95): Show GTATATATATGTATATATATATATGTATATATATGTATATATATATATGT ATATATATATATACGTATATATATATGTATATATATATATATACGTATAT ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG03579.hp2 HG02809.hp1 HG03579.hp2	a0007 a0009 a0007 a0009	a0007c0073 a0009c0090 a0007c0073 a0009c0090	a0007c0073t0001 a0009c0090t0001 a0007c0073t0001 a0009c0090t0001	a0007c0073t0001g0218 a0009c0090t0001g0131 a0007c0073t0001g0218 a0009c0090t0001g0131	2	396	0.0051	102	c.-10 others(113): Show c.-1018_-1017insTATATATATGTATATATATATATGTATATATATG TATATATATATATGTATATATATATATACGTATATATATATGTATATATA TATATATACGTATATATA	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding		1017		chr19	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TATTAATA others(95): Show TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02129.hp1 HG02145.hp1 others(15): Show HG01884.hp2 HG02129.hp1 HG02145.hp1 HG02559.hp1 HG02615.hp2 HG02683.hp2 HG02717.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03471.hp2 HG03516.hp2 HG03669.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0003c0003t0001	a0001c0001t0001g0310 a0001c0001t0004g0311 a0001c0001t0004g0312 others(12): Show a0001c0001t0001g0310 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0314 a0002c0002t0001g0010 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0003g0260 a0002c0002t0004g0241 a0002c0002t0008g0058 a0003c0003t0001g0230	18	422	0.0427	102	c.195 others(119): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAAT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOTCH1_chr9_136489433_136551048	136535561	T T	TGGTGGGT others(95): Show TGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	324	0.0031	102	c.140 others(119): Show c.140+8462_140+8463insCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGATCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCCCCACCCACC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535645	T T	TCCCGGGG others(95): Show TCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCC CTCCCAGGAGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCC CTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01358.hp2 HG01433.hp2 others(6): Show HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01975.hp2 HG02300.hp2 HG02523.hp1 HG03704.hp1 NA19067.hp2 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0002c0010	a0001c0001t0004 a0001c0001t0007 a0001c0002t0010 others(4): Show a0001c0001t0004 a0001c0001t0007 a0001c0002t0010 a0001c0003t0001 a0001c0005t0008 a0001c0008t0007 a0002c0010t0002	a0001c0001t0004g0157 a0001c0001t0007g0197 a0001c0002t0010g0250 others(6): Show a0001c0001t0004g0157 a0001c0001t0007g0197 a0001c0002t0010g0250 a0001c0003t0001g0249 a0001c0005t0008g0025 a0001c0008t0007g0277 a0002c0010t0002g0152 a0002c0010t0002g0158 a0002c0010t0002g0159	9	324	0.0278	102	c.140 others(119): Show c.140+8378_140+8379insGAGGGATCCTGAGTGCTCCCCCCGACCC ACCCTGCACCCATTGCTCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC CCACCCTGCACCCATTGCCCCGGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535882	A A	AGTGGGTG others(95): Show AGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCA GGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGC AGG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0272 a0001c0001t0009g0272	1	324	0.0031	102	c.140 others(119): Show c.140+8141_140+8142insCCTGCACTCATTGCCCCGGGAGGGATCC TGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTUM_chr17_81947507_81966187	81952348	G G	GGGAGGGG others(95): Show GGGAGGGGAGGGAGAGGAGGAGGGCAGGGAGAGGAGGAGGGGAGGGAGAG GAGGAGGGGAGGGAGAGGAGGAGGGGAGGGAGAGGAGGAGGGGAGGGAGA GGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01261.hp1 HG00140.hp2 HG00735.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	384	0.0078	102	c.61 others(111): Show c.612_*613insTCCTCTCCCTCCCCTCCTCCTCTCCCTCCCCTCCTC CTCTCCCTCCCCTCCTCCTCTCCCTCCCCTCCTCCTCTCCCTGCCCTCCT CCTCTCCCTCCCCTCC	NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding		158		chr17	TogoVar
NPBWR2_chr20_64098802_64112565	64105613	G G	GGGTGATG others(95): Show GGGTGATGGTGGGGGTGGTGGGGGGGGTGATGGTGGGGGTGGTGGGCGGG GTGGGCGTGATGATGGGGGTGGGGGTGGGGGTGGGGGTGATGGTGGGCGT GAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0052 a0001c0002t0044g0052	1	355	0.0028	102	c.21 others(111): Show c.216_*217insATCACGCCCACCATCACCCCCACCCCCACCCCCACC CCCATCATCACGCCCACCCCGCCCACCACCCCCACCATCACCCCCCCCAC CACCCCCACCATCACC	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	216		chr20	TogoVar
NPBWR2_chr20_64098802_64112565	64105613	G G	GGGTGATG others(95): Show GGGTGATGGTGGGGGTGGTGGGGGGGGTGATGGTGGGGGTGGTGGGGGGG GTGGGCGTGATGATGGGGGTGGGGGTGGGGGTGGGGGTGATGGTGGGCGT GAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0032 a0001c0002t0037g0032	2	355	0.0056	102	c.21 others(111): Show c.216_*217insATCACGCCCACCATCACCCCCACCCCCACCCCCACC CCCATCATCACGCCCACCCCCCCCACCACCCCCACCATCACCCCCCCCAC CACCCCCACCATCACC	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	216		chr20	TogoVar
NPSR1_chr7_34653218_34854978	34792665	T T	TTATATAT others(95): Show TTATATATATGTATATATATATATTTATATATATATGTATATATATATAT TTATATATATATGTATATATATATATTTATATATATGTATATATATATAT TTA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02273.hp2 HG02148.hp1 HG02273.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0044 a0006c0006t0004g0046 a0006c0006t0004g0044 a0006c0006t0004g0046	2	260	0.0077	102	c.384 others(121): Show c.384+14123_384+14124insTTATATATATATGTATATATATATAT TTATATATATATGTATATATATATATTTATATATATGTATATATATATAT TTATATATATATGTATATATATATAT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPSR1_chr7_34653218_34854978	34792665	T T	TTATATAT others(95): Show TTATATATATGTATATATATATATTTATATATATATGTATATATATATAT TTATATATATATGTATATATATATTTATATATATATGTATATATATATAT TTA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0053 a0006c0006t0001g0053	1	260	0.0039	102	c.384 others(121): Show c.384+14123_384+14124insTTATATATATATGTATATATATATAT TTATATATATATGTATATATATATTTATATATATATGTATATATATATAT TTATATATATATGTATATATATATAT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPSR1_chr7_34653218_34854978	34792665	T T	TTATATAT others(95): Show TTATATATGTATATATATATATTTATATATATATGTATATATATATATTT ATATATATATGTATATATATATATTTATATATATATGTATATATATATAT TTA	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18612.hp1 NA18989.hp2 others(2): Show HG01261.hp2 NA18612.hp1 NA18989.hp2 NA19004.hp1 NA19084.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0009 a0003c0010 a0006c0006 a0001c0009 a0003c0010 a0006c0006	a0001c0009t0001 a0003c0010t0004 a0006c0006t0001 a0001c0009t0001 a0003c0010t0004 a0006c0006t0001	a0001c0009t0001g0069 a0003c0010t0004g0065 a0006c0006t0001g0011 others(2): Show a0001c0009t0001g0069 a0003c0010t0004g0065 a0006c0006t0001g0011 a0006c0006t0001g0066 a0006c0006t0001g0072	5	260	0.0192	102	c.384 others(121): Show c.384+14107_384+14108insGTATATATATATATTTATATATATAT GTATATATATATATTTATATATATATGTATATATATATATTTATATATAT ATGTATATATATATATTTATATATAT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NTS_chr12_85869295_85887992	85879463	G G	GTATATAA others(95): Show GTATATAAAATATATTTTTTGTATATTTTATGTATATAAAATATATTTTT TGTATATTTTATGTATATAAAATATATTTTTTGTATATTTTATGTATATA AAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03486.hp2 HG03540.hp1 HG02630.hp1 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0049 a0001c0001t0004g0146 a0001c0001t0004g0049 a0001c0001t0004g0146	3	420	0.0071	102	c.360 others(117): Show c.360+899_360+900insAAAATATATTTTTTGTATATTTTATGTATA TAAAATATATTTTTTGTATATTTTATGTATATAAAATATATTTTTTGTAT ATTTTATGTATATAAAATATAT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTS_chr12_85869295_85887992	85879474	G G	GTATATAA others(95): Show GTATATAAAATATATTTTTTGTATATTTTATGTATATAAAATATATTTTT TGTATATTTTATGTATATAAAATATATTTTTTGTATATTTTATGTATATA AAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	420	0.0024	102	c.360 others(117): Show c.360+910_360+911insAAAATATATTTTTTGTATATTTTATGTATA TAAAATATATTTTTTGTATATTTTATGTATATAAAATATATTTTTTGTAT ATTTTATGTATATAAAATATAT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTS_chr12_85869295_85887992	85879589	G G	GTATATAA others(95): Show GTATATAAAATATATTTTTTGTATATTTTATGTATATAAAATATATTTTT TGTATATTTTATGTATATAAAATATATTTTTTGTATATTTTATGTATATA AAA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	420	0.0024	102	c.360 others(119): Show c.360+1025_360+1026insAAAATATATTTTTTGTATATTTTATGTA TATAAAATATATTTTTTGTATATTTTATGTATATAAAATATATTTTTTGT ATATTTTATGTATATAAAATATAT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
OCLN_chr5_69487790_69563104	69515528	C C	CGGGGGGG others(95): Show CGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0181 a0001c0001t0011g0181	1	290	0.0035	102	c.891 others(119): Show c.891+1425_891+1426insGCTGACCCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAG ACGGGGCGGCTGGCCGGGGGGGGG	OCLN	ENSG00000197822.12	transcript	ENST00000396442.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
OCLN_chr5_69487790_69563104	69515539	C C	CCCCCCCC others(95): Show CCCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGG GCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGGGGGGGC TGA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	290	0.0035	102	c.891 others(119): Show c.891+1438_891+1439insCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGGGGGGGCTGACCCCCCCC	OCLN	ENSG00000197822.12	transcript	ENST00000396442.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
ODAD3_chr19_11415605_11440121	11424597	A A	ATATATAT others(95): Show ATATATATGTGTATATATACCTATGTGTATATATGTATATATGTGTATAT ATACCTATGTGTATATATGTATATATGTGTATATATACCTATGTGTATAT ATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp1 HG01167.hp2 others(20): Show HG00738.hp1 HG01109.hp1 HG01167.hp2 HG02027.hp2 HG02080.hp2 HG03453.hp1 HG03491.hp2 HG03834.hp1 HG04204.hp1 NA18747.hp2 NA18945.hp1 NA18967.hp1 NA18982.hp2 NA18983.hp2 NA18997.hp1 NA19000.hp2 NA19004.hp2 NA19007.hp1 NA19066.hp1 NA19074.hp1 NA19080.hp1 NA19084.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0107 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0215 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0355	23	398	0.0578	102	c.964 others(117): Show c.964-670_964-569dupCATATATACACATAGGTATATATACACATA TATACATATATACACATAGGTATATATACACATATATACATATATACACA TAGGTATATATACACATATATA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODAD3_chr19_11415605_11440121	11424885	A A	ATACCTAT others(95): Show ATACCTATGTGTATATATGTATATATGTGTATATATACCTATGTGTATAT ATGTATATATGTGTATATATACCTATGTGTATATATGTATATATGTGTAT ATG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03209.hp2 HG03710.hp1 HG02735.hp2 HG03209.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0164 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0164	3	398	0.0075	102	c.964 others(117): Show c.964-857_964-856insCATATACACATATATACATATATACACATA GGTATATATACACATATATACATATATACACATAGGTATATATACACATA TATACATATATACACATAGGTA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODAD3_chr19_11415605_11440121	11424885	A A	ATACCTAT others(95): Show ATACCTATGTGTATATATGTATATATGTGTATATATACCTATGTGTATAT ATGTATATATGTGTATATGTACCTATGTGTATATATGTATATATGTGTAT ATG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	398	0.0025	102	c.964 others(117): Show c.964-857_964-856insCATATACACATATATACATATATACACATA GGTACATATACACATATATACATATATACACATAGGTATATATACACATA TATACATATATACACATAGGTA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar

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Search Results (Total: 10000 hits)