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
NCR1_chr19_54901148_54918073	54912599	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03139.hp1 NA20300.hp1 HG02723.hp1 HG03139.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0027 a0001c0003t0003g0027	3	457	0.0066	-22	c.734 others(35): Show c.734-73_734-52delAAAAAAAAAAAAAAAAAAAAAA	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
NCR3_chr6_31583895_31598006	31593326	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	439	0.0023	-22	c.-62 others(31): Show c.-627_-606delCACACACACACACACACACACA	NCR3	ENSG00000204475.10	transcript	ENST00000340027.10	protein_coding		321		chr6	TogoVar
NCS1_chr9_130167404_130242303	130176164	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0029 a0001c0001t0033g0029	1	348	0.0029	-22	c.64+ others(37): Show c.64+3439_64+3460delCTTTCTTTCTTTCTTTCTTTCT	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NDC80_chr18_2566557_2621635	2605274	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02132.hp1 HG02055.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0091 a0001c0001t0001g0097	2	402	0.0050	-22	c.146 others(41): Show c.1465-1107_1465-1086delGTGTGTGTGTGTGTGTGTGTGT	NDC80	ENSG00000080986.13	transcript	ENST00000261597.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
NDNF_chr4_121030613_121077535	121065308	TAATGAGG others(15): Show TAATGAGGCAATCTTTGCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02735.hp2 HG01243.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0215 a0001c0004t0002g0214 a0001c0001t0001g0215 a0001c0004t0002g0214	2	354	0.0057	-22	c.-2+ others(37): Show c.-2+6663_-2+6684delGTGGGGCAAAGATTGCCTCATT	NDNF	ENSG00000173376.14	transcript	ENST00000379692.9	protein_coding	1/3			chr4	TogoVar
NDRG1_chr8_133232175_133302252	133243912	TTACACAT others(15): Show TTACACATGCACACAGACATGTG	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18950.hp2 HG03834.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0144 a0001c0001t0002g0193 a0001c0001t0001g0144 a0001c0001t0002g0193	2	378	0.0053	-22	c.891 others(37): Show c.891+421_891+442delCACATGTCTGTGTGCATGTGTA	NDRG1	ENSG00000104419.17	transcript	ENST00000323851.13	protein_coding	14/15			chr8	TogoVar
NDRG1_chr8_133232175_133302252	133296694	GACACACA others(15): Show GACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	378	0.0027	-22	c.-19 others(37): Show c.-19+418_-19+439delGTGTGTGTGTGTGTGTGTGTGT	NDRG1	ENSG00000104419.17	transcript	ENST00000323851.13	protein_coding	1/15			chr8	TogoVar
NDRG3_chr20_36646771_36751090	36693121	TATATATA others(15): Show TATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0180 a0001c0001t0008g0180	1	298	0.0034	-22	c.94- others(37): Show c.94-4359_94-4338delGTATATATATATATATATATAT	NDRG3	ENSG00000101079.21	transcript	ENST00000349004.6	protein_coding	3/15			chr20	TogoVar
NDRG3_chr20_36646771_36751090	36715000	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG00597.hp2 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0266 a0001c0001t0001g0179 a0001c0001t0001g0266	2	298	0.0067	-22	c.57+ others(37): Show c.57+6657_57+6678delTATATATATATATATACACACA	NDRG3	ENSG00000101079.21	transcript	ENST00000349004.6	protein_coding	2/15			chr20	TogoVar
NDRG3_chr20_36646771_36751090	36715002	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp1 HG01169.hp1 others(5): Show HG00738.hp1 HG01167.hp1 HG01169.hp1 HG02622.hp2 HG02723.hp2 HG02922.hp1 HG03209.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0060 a0001c0001t0004g0284 a0001c0001t0004g0285 others(5): Show a0001c0001t0002g0060 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 a0001c0001t0004g0294	8	298	0.0269	-22	c.57+ others(37): Show c.57+6655_57+6676delTATATATATATATATATACACA	NDRG3	ENSG00000101079.21	transcript	ENST00000349004.6	protein_coding	2/15			chr20	TogoVar
NDRG3_chr20_36646771_36751090	36715004	GTGTATAT others(15): Show GTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG03225.hp1 others(1): Show HG02055.hp1 HG02451.hp1 HG03225.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0013 a0001c0001t0008g0260 a0001c0001t0008g0261 others(1): Show a0001c0001t0005g0013 a0001c0001t0008g0260 a0001c0001t0008g0261 a0001c0001t0008g0263	4	298	0.0134	-22	c.57+ others(37): Show c.57+6653_57+6674delTATATATATATATATATATACA	NDRG3	ENSG00000101079.21	transcript	ENST00000349004.6	protein_coding	2/15			chr20	TogoVar
NDST3_chr4_118029486_118263634	118058622	TGTGTGTG others(15): Show TGTGTGTGTGTGTGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01070.hp2 HG01978.hp1 others(13): Show HG00544.hp2 HG01070.hp2 HG01978.hp1 HG02165.hp2 HG03688.hp1 NA18939.hp1 NA18947.hp2 NA18948.hp2 NA18957.hp1 NA18966.hp1 NA18975.hp2 NA19006.hp1 NA19009.hp1 NA19057.hp2 NA19084.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0041 others(13): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0163 a0001c0001t0010g0040 a0001c0001t0014g0110 a0001c0001t0017g0036	16	216	0.0741	-22	c.981 others(39): Show c.981+3733_981+3754delTGTGTGTGTGTGCGCGCGCGCG	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
NDST3_chr4_118029486_118263634	118066497	TGTTATAT others(15): Show TGTTATATATTATATATACATTA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp2 HG03486.hp1 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0017 a0001c0004 a0001c0017	a0001c0004t0003 a0001c0017t0001 a0001c0004t0003 a0001c0017t0001	a0001c0004t0003g0194 a0001c0017t0001g0207 a0001c0004t0003g0194 a0001c0017t0001g0207	2	216	0.0093	-22	c.981 others(41): Show c.981+11607_981+11628delGTTATATATTATATATACATTA	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13			chr4	TogoVar
NDST3_chr4_118029486_118263634	118126515	TATATATA others(15): Show TATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00639.hp1 others(48): Show HG00099.hp1 HG00597.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp2 HG01169.hp1 HG01256.hp2 HG01891.hp1 HG01975.hp1 HG01978.hp2 HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02602.hp2 HG02630.hp1 HG02738.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18948.hp1 NA18952.hp2 NA18954.hp1 NA18966.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA19030.hp1 NA19057.hp1 NA19074.hp1 NA19082.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0017	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0004t0003 a0001c0004t0019 a0001c0005t0001 a0001c0008t0003 a0001c0008t0005 a0001c0010t0003 a0001c0017t0001	a0001c0001t0001g0121 a0001c0001t0001g0176 a0001c0001t0001g0184 others(48): Show a0001c0001t0001g0121 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0002t0001g0002 a0001c0002t0001g0029 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0112 a0001c0002t0001g0170 a0001c0002t0001g0173 a0001c0002t0001g0182 a0001c0002t0001g0211 a0001c0002t0001g0214 a0001c0004t0001g0206 a0001c0004t0003g0194 a0001c0004t0003g0196 a0001c0004t0003g0205 a0001c0004t0019g0195 a0001c0005t0001g0109 a0001c0008t0003g0210 a0001c0008t0005g0177 a0001c0010t0003g0171 a0001c0010t0003g0213 a0001c0017t0001g0207	51	216	0.2361	-22	c.122 others(43): Show c.1225-11521_1225-11500delTACACATATATATATATATATA	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
NDST4_chr4_114822763_115118620	114991508	GACACAGC others(15): Show GACACAGCATGTGATATAGGAAT	G G	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	190	0.0053	-22	c.979 others(41): Show c.979-14256_979-14235delATTCCTATATCACATGCTGTGT	NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	2/13			chr4	TogoVar
NDST4_chr4_114822763_115118620	115057713	CACACACA others(15): Show CACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03139.hp1 HG02965.hp2 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0001 a0001c0003t0001 a0001c0006t0001	a0001c0003t0001g0099 a0001c0006t0001g0098 a0001c0003t0001g0099 a0001c0006t0001g0098	2	190	0.0105	-22	c.978 others(41): Show c.978+18324_978+18345delCTGTGTGTGTGTGTGTGTGTGT	NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	2/13			chr4	TogoVar
NDUFA10_chr2_239952372_240030342	240025945	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01496.hp1 others(14): Show HG01256.hp2 HG01258.hp2 HG01496.hp1 HG02451.hp1 HG02572.hp2 HG02630.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 a0001c0001t0023 a0001c0001t0040	a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0161 others(14): Show a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0012g0155 a0001c0001t0012g0156 a0001c0001t0012g0157 a0001c0001t0012g0158 a0001c0001t0012g0159 a0001c0001t0012g0167 a0001c0001t0017g0153 a0001c0001t0017g0166 a0001c0001t0017g0252 a0001c0001t0023g0163 a0001c0001t0040g0162	17	412	0.0413	-22	c.-66 others(31): Show c.-666_-645delAAAAAAAAAAAAAAAAAAAAAA	NDUFA10	ENSG00000130414.13	transcript	ENST00000252711.7	protein_coding		604		chr2	TogoVar
NDUFAF2_chr5_60940205_61158026	61028964	AGTCTTGT others(15): Show AGTCTTGTGGCTTACTCTTTGCC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01884.hp2 HG01891.hp2 others(20): Show HG01361.hp1 HG01884.hp2 HG01891.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG03195.hp1 HG03225.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 others(20): Show a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0003t0001g0257	23	266	0.0865	-22	c.128 others(41): Show c.128-44155_128-44134delGTGGCTTACTCTTTGCCGTCTT	NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFAF2_chr5_60940205_61158026	61031500	GCTGCATA others(15): Show GCTGCATAGTATTCCATGGTATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp2 HG00639.hp1 others(43): Show HG00140.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG01074.hp2 HG01099.hp1 HG01261.hp1 HG01928.hp1 HG01952.hp1 HG02004.hp2 HG02135.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02683.hp1 HG03017.hp1 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04228.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18953.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18978.hp1 NA18988.hp1 NA19054.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19076.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(43): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0002t0001g0232	46	266	0.1729	-22	c.128 others(41): Show c.128-41563_128-41542delGTATACTGCATAGTATTCCATG	NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFAF5_chr20_13780028_13826580	13817802	CACAGTCA others(15): Show CACAGTCATCAGTTTATTGTTAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00438.hp2 others(91): Show HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01981.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02451.hp1 HG02523.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG03098.hp1 HG03239.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03710.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18952.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18987.hp2 NA18992.hp2 NA18993.hp2 NA18999.hp2 NA19000.hp1 NA19006.hp1 NA19012.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19072.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19080.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA20805.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0002 a0001c0001t0006 a0001c0001t0017 others(7): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0003c0007t0017	a0001c0001t0002g0001 a0001c0001t0002g0019 a0001c0001t0002g0037 others(44): Show a0001c0001t0002g0001 a0001c0001t0002g0019 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0006g0001 a0001c0001t0006g0010 a0001c0001t0006g0043 a0001c0001t0006g0134 a0001c0001t0006g0137 a0001c0001t0006g0143 a0001c0001t0006g0156 a0001c0001t0017g0001 a0001c0001t0020g0001 a0001c0001t0020g0145 a0001c0001t0021g0121 a0001c0001t0021g0158 a0001c0001t0041g0138 a0001c0001t0042g0001 a0001c0001t0043g0001 a0001c0001t0045g0152 a0003c0007t0017g0155	94	416	0.2260	-22	c.59 others(31): Show c.593_*614delACAGTCATCAGTTTATTGTTAA	NDUFAF5	ENSG00000101247.18	transcript	ENST00000378106.10	protein_coding	11/11	593		chr20	TogoVar
NDUFAF8_chr17_81234318_81246310	81243863	ACCCCCTC others(15): Show ACCCCCTCCCAGCCTCCTCCCGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	-22	c.28 others(33): Show c.2848_*2869delCCCCCTCCCAGCCTCCTCCCGG	NDUFAF8	ENSG00000224877.4	transcript	ENST00000431388.3	protein_coding		2554		chr17	TogoVar
NDUFB3_chr2_201067001_201090750	201069543	AACACACA others(15): Show AACACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01884.hp1 others(3): Show HG01069.hp1 HG01071.hp1 HG01884.hp1 HG02615.hp1 HG02647.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0002g0035 a0001c0001t0002g0130	6	332	0.0181	-22	c.-25 others(33): Show c.-2518_-2497delACACACACACACACACACACAC	NDUFB3	ENSG00000119013.10	transcript	ENST00000237889.9	protein_coding		2457		chr2	TogoVar
NDUFB5_chr3_179599794_179632647	179600511	ATGAGCCT others(15): Show ATGAGCCTATAATCCCAGCTACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18991.hp2 NA18993.hp1 NA18973.hp2 NA18991.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0066 a0001c0001t0006g0001 a0001c0001t0006g0066	3	366	0.0082	-22	c.-43 others(33): Show c.-4304_-4283delTGAGCCTATAATCCCAGCTACT	NDUFB5	ENSG00000136521.13	transcript	ENST00000259037.8	protein_coding		4282		chr3	TogoVar
NDUFB6_chr9_32548001_32578159	32566853	GGCGGCCT others(15): Show GGCGGCCTGGATGAGCCACGCGT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01891.hp1 others(23): Show HG01070.hp2 HG01071.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0027 others(12): Show a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0004g0010 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0005g0047 a0001c0001t0008g0155 a0001c0001t0008g0159	26	378	0.0688	-22	c.273 others(39): Show c.273+4085_273+4106delACGCGTGGCTCATCCAGGCCGC	NDUFB6	ENSG00000165264.11	transcript	ENST00000379847.8	protein_coding	2/3			chr9	TogoVar
NDUFS3_chr11_47574074_47589562	47579984	GACACACA others(15): Show GACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(104): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00733.hp2 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01243.hp1 HG01261.hp2 HG01496.hp1 HG01978.hp2 HG02071.hp1 HG02083.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03704.hp1 HG03831.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19011.hp2 NA19055.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0041 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0002g0001 a0001c0003t0001g0001	107	422	0.2536	-22	c.134 others(37): Show c.134-516_134-495delACACACACACACACACACACAC	NDUFS3	ENSG00000213619.11	transcript	ENST00000263774.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
NDUFS5_chr1_39021350_39039615	39022368	CCCACGTT others(15): Show CCCACGTTCCAGTGATTCTCCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	438	0.0023	-22	c.-40 others(33): Show c.-4036_-4015delCCACGTTCCAGTGATTCTCCTG	NDUFS5	ENSG00000168653.11	transcript	ENST00000372969.8	protein_coding		3981		chr1	TogoVar
NDUFS5_chr1_39021350_39039615	39024902	TTATATAT others(15): Show TTATATATATATATATTTATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	438	0.0023	-22	c.-15 others(33): Show c.-1502_-1481delTATATATATATATATTTATATA	NDUFS5	ENSG00000168653.11	transcript	ENST00000372969.8	protein_coding		1447		chr1	TogoVar
NDUFS5_chr1_39021350_39039615	39024918	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00741.hp2 others(2): Show HG00140.hp1 HG00280.hp2 HG00741.hp2 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	438	0.0114	-22	c.-14 others(33): Show c.-1486_-1465delTATATATATATATATATATATA	NDUFS5	ENSG00000168653.11	transcript	ENST00000372969.8	protein_coding		1431		chr1	TogoVar
NEB_chr2_151480339_151739476	151576504	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0056 a0056	a0056c0145 a0056c0145	a0056c0145t0001 a0056c0145t0001	a0056c0145t0001g0177 a0056c0145t0001g0177	1	188	0.0053	-22	c.167 others(41): Show c.16705-172_16705-151delAAAAAAAAAATATATATATATA	NEB	ENSG00000183091.21	transcript	ENST00000397345.8	protein_coding	105/181			chr2	TogoVar
NEB_chr2_151480339_151739476	151576510	ATATATAT others(15): Show ATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0038 a0005c0008t0001g0038	1	188	0.0053	-22	c.167 others(41): Show c.16705-178_16705-157delAAAAAAAAAAAAAAAATATATA	NEB	ENSG00000183091.21	transcript	ENST00000397345.8	protein_coding	105/181			chr2	TogoVar
NEB_chr2_151480339_151739476	151620343	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA20129.hp1 HG02280.hp2 NA20129.hp1	a0050 a0056 a0050 a0056	a0050c0099 a0056c0145 a0050c0099 a0056c0145	a0050c0099t0001 a0056c0145t0001 a0050c0099t0001 a0056c0145t0001	a0050c0099t0001g0098 a0056c0145t0001g0177 a0050c0099t0001g0098 a0056c0145t0001g0177	2	188	0.0106	-22	c.105 others(41): Show c.10560+554_10560+575delTATATATATATATATATACACA	NEB	ENSG00000183091.21	transcript	ENST00000397345.8	protein_coding	72/181			chr2	TogoVar
NEB_chr2_151480339_151739476	151692034	CATGAACC others(15): Show CATGAACCATTGTCTTCAAACTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18962.hp2 NA18962.hp2	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0001 a0004c0018t0001	a0004c0018t0001g0135 a0004c0018t0001g0135	1	188	0.0053	-22	c.210 others(36): Show c.2106+3_2106+24delAAGTTTGAAGACAATGGTTCAT	NEB	ENSG00000183091.21	transcript	ENST00000397345.8	protein_coding	22/181			chr2	TogoVar
NECAB1_chr8_90786775_90964393	90813230	TATATACA others(15): Show TATATACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00558.hp1 others(94): Show HG00099.hp1 HG00423.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp1 HG01891.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG02717.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG03098.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03491.hp2 HG03669.hp1 HG03834.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp2 NA18979.hp2 NA18985.hp1 NA18991.hp2 NA18993.hp2 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0030 a0001c0001t0033 a0001c0001t0047 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0038 others(94): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0093 a0001c0001t0001g0120 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0003g0014 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0103 a0001c0001t0003g0117 a0001c0001t0004g0045 a0001c0001t0006g0046 a0001c0001t0007g0003 a0001c0001t0007g0024 a0001c0001t0007g0039 a0001c0001t0007g0073 a0001c0001t0007g0116 a0001c0001t0008g0044 a0001c0001t0008g0051 a0001c0001t0008g0062 a0001c0001t0008g0105 a0001c0001t0008g0113 a0001c0001t0009g0248 a0001c0001t0010g0060 a0001c0001t0011g0027 a0001c0001t0011g0034 a0001c0001t0011g0057 a0001c0001t0011g0061 a0001c0001t0011g0071 a0001c0001t0011g0232 a0001c0001t0012g0179 a0001c0001t0013g0107 a0001c0001t0013g0109 a0001c0001t0014g0080 a0001c0001t0015g0019 a0001c0001t0015g0023 a0001c0001t0015g0053 a0001c0001t0015g0083 a0001c0001t0015g0206 a0001c0001t0022g0074 a0001c0001t0022g0110 a0001c0001t0023g0032 a0001c0001t0027g0016 a0001c0001t0027g0108 a0001c0001t0030g0047 a0001c0001t0033g0013 a0001c0001t0047g0059 a0001c0001t0051g0065 a0001c0001t0052g0050 a0001c0001t0053g0010	97	248	0.3911	-22	c.125 others(41): Show c.125-11485_125-11464delTATACACACACACACACACACA	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB2_chr16_83963244_84007776	83993620	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0188 a0001c0001t0053g0188	1	354	0.0028	-22	c.597 others(37): Show c.597-654_597-633delGTGTGTGTGTGTGTGTGTGTGT	NECAB2	ENSG00000103154.10	transcript	ENST00000305202.9	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
NECAP2_chr1_16435724_16465078	16451369	ATGTATGA others(15): Show ATGTATGATTTCTGTTGGTTTAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	386	0.0026	-22	c.490 others(37): Show c.490-468_490-447delTGTATGATTTCTGTTGGTTTAT	NECAP2	ENSG00000157191.20	transcript	ENST00000337132.10	protein_coding	5/7			chr1	TogoVar
NECAP2_chr1_16435724_16465078	16464517	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTCTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01891.hp2 others(8): Show HG01069.hp1 HG01071.hp2 HG01891.hp2 HG02145.hp1 HG02622.hp2 HG02630.hp1 HG02897.hp1 HG03098.hp1 HG03486.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0001g0076 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0009g0099	11	386	0.0285	-22	c.56 others(33): Show c.5628_*5649delTTTTTTTTTTTTTTTCTTTTTT	NECAP2	ENSG00000157191.20	transcript	ENST00000337132.10	protein_coding		4440		chr1	TogoVar
NECTIN3_chr3_111066816_111142560	111118248	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0234 a0001c0001t0015g0234	1	314	0.0032	-22	c.503 others(37): Show c.503-394_503-373delATATATATATATATATATATAT	NECTIN3	ENSG00000177707.11	transcript	ENST00000485303.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEDD1_chr12_96902257_96958780	96930156	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01978.hp2 HG02258.hp1 others(10): Show HG01975.hp1 HG01978.hp2 HG02258.hp1 HG02683.hp1 HG02818.hp1 HG02970.hp2 HG03195.hp1 HG03942.hp2 NA18522.hp2 NA18995.hp1 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0021 a0001c0001t0022	a0001c0001t0001g0217 a0001c0001t0001g0234 a0001c0001t0001g0239 others(10): Show a0001c0001t0001g0217 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0295 a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0003g0185 a0001c0001t0009g0249 a0001c0001t0021g0335 a0001c0001t0022g0212	13	400	0.0325	-22	c.490 others(39): Show c.490-4785_490-4764delACACACACACACACACACACAC	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96930191	ACACACAC others(15): Show ACACACACACACACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0327 a0001c0001t0006g0327	1	400	0.0025	-22	c.490 others(39): Show c.490-4783_490-4762delACACACACACACACACACACTC	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96930193	ACACACAC others(15): Show ACACACACACACACACACACTCT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0339 a0001c0001t0006g0339	1	400	0.0025	-22	c.490 others(39): Show c.490-4781_490-4760delACACACACACACACACACTCTC	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96930195	ACACACAC others(15): Show ACACACACACACACACACTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03516.hp2 HG02970.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0370 a0001c0001t0007g0371 a0001c0001t0007g0370 a0001c0001t0007g0371	2	400	0.0050	-22	c.490 others(39): Show c.490-4779_490-4758delACACACACACACACACTCTCTC	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96930199	ACACACAC others(15): Show ACACACACACACACTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA21309.hp1 HG02451.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0010 a0001c0001t0007 a0001c0002t0010	a0001c0001t0007g0015 a0001c0002t0010g0323 a0001c0001t0007g0015 a0001c0002t0010g0323	2	400	0.0050	-22	c.490 others(39): Show c.490-4775_490-4754delACACACACACACTCTCTCTCTC	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD4L_chr18_58039226_58406539	58063949	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0068 a0001c0001t0020g0068	1	118	0.0085	-22	c.48+ others(39): Show c.48+19253_48+19274delTTTTTTTTTTTTTTTTTTTTTT	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58134705	CTTTTCTT others(15): Show CTTTTCTTTTTTCCCCTTCTATT	C C	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0061 a0001c0001t0010g0061	1	118	0.0085	-22	c.49- others(39): Show c.49-31073_49-31052delTTCCCCTTCTATTTTTTCTTTT	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4_chr15_55821922_55998612	55839999	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	344	0.0029	-22	c.203 others(39): Show c.2031+426_2031+447delATATATATATATATATATATAT	NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	21/28			chr15	TogoVar
NEGR1_chr1_71390943_72287539	71609514	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02280.hp1 HG02970.hp1 others(3): Show HG00639.hp2 HG02280.hp1 HG02970.hp1 HG03041.hp1 HG03195.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0021 a0001c0006t0009	a0001c0001t0002g0010 a0001c0002t0001g0055 a0001c0002t0002g0053 others(3): Show a0001c0001t0002g0010 a0001c0002t0001g0055 a0001c0002t0002g0053 a0001c0002t0010g0005 a0001c0002t0021g0061 a0001c0006t0009g0023	6	64	0.0938	-22	c.788 others(39): Show c.788+1490_788+1511delTTTTTTTTTTTTTTTTTTTTTT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	5/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71943016	GTGTATAT others(15): Show GTGTATATATATACACACATACA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02280.hp2 others(1): Show HG01109.hp2 HG01884.hp1 HG02280.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0027 a0001c0001t0001 a0001c0001t0002 a0001c0001t0027	a0001c0001t0001g0038 a0001c0001t0002g0009 a0001c0001t0002g0035 others(1): Show a0001c0001t0001g0038 a0001c0001t0002g0009 a0001c0001t0002g0035 a0001c0001t0027g0006	4	64	0.0625	-22	c.177 others(39): Show c.177-7727_177-7706delTGTATGTGTGTATATATATACA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71999658	TATATATA others(15): Show TATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02109.hp1 NA20129.hp1 HG01071.hp1 HG02109.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0001t0001 a0001c0001t0004 a0001c0001t0019	a0001c0001t0001g0049 a0001c0001t0004g0029 a0001c0001t0019g0046 a0001c0001t0001g0049 a0001c0001t0004g0029 a0001c0001t0019g0046	3	64	0.0469	-22	c.177 others(41): Show c.177-64369_177-64348delGTATATATATATATATATATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	72022260	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG01109.hp2 others(10): Show HG00597.hp2 HG00639.hp1 HG01109.hp2 HG01515.hp1 HG01884.hp1 HG02055.hp1 HG02280.hp2 HG02922.hp1 HG03195.hp2 HG03579.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0023 a0001c0001t0027 a0001c0002t0003 a0001c0004t0001 a0002c0007t0001	a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0036 others(10): Show a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0002g0009 a0001c0001t0002g0035 a0001c0001t0002g0043 a0001c0001t0005g0063 a0001c0001t0023g0062 a0001c0001t0027g0006 a0001c0002t0003g0044 a0001c0004t0001g0003 a0002c0007t0001g0064	13	64	0.2031	-22	c.177 others(41): Show c.177-86971_177-86950delATATATATATATATATATATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6			chr1	TogoVar
NEK10_chr3_27101484_27374383	27156929	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0026 a0002c0017t0026	a0002c0017t0026g0161 a0002c0017t0026g0161	1	234	0.0043	-22	c.286 others(41): Show c.2869+5750_2869+5771delATATATATATATATATATATAT	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	30/35			chr3	TogoVar

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