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
NKD2_chr5_1003802_1043943	1024019	GCTGTGGG others(34): Show GCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0086 a0001c0001t0008g0086	1	319	0.0031	-41	c.142 others(58): Show c.142-8121_142-8081delCCAGCCCGTTGTCCCTGCTCTTCCCACC CTCTGTGGGCGTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024060	TCTGTGGG others(34): Show TCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCG	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	319	0.0031	-41	c.142 others(58): Show c.142-8080_142-8040delTCAGCCCATTGTCCCTGCTCTTCCCACC CGCTGTGGGCGTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024113	CCAGCCCA others(34): Show CCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02965.hp2 HG02055.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0057 a0001c0001t0004g0058	2	319	0.0063	-41	c.142 others(58): Show c.142-8012_142-7972delCCTCTGTGGGCGTCTCAGCCCATTGTCC CTGCTCTTCCCAC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024154	TCAGCCCA others(34): Show TCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01168.hp2 HG01515.hp1 others(13): Show HG00408.hp1 HG01168.hp2 HG01515.hp1 HG02132.hp1 HG02135.hp1 HG02258.hp2 HG02735.hp1 NA18747.hp2 NA18951.hp2 NA18965.hp2 NA18984.hp1 NA19009.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0012 a0001c0001 a0001c0010 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0010t0001 a0001c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0036 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0126 a0001c0001t0001g0190 a0001c0001t0001g0200 a0001c0001t0002g0042 a0001c0001t0012g0119 a0001c0010t0001g0187 a0001c0012t0001g0012	16	319	0.0502	-41	c.142 others(58): Show c.142-7971_142-7931delTCTCTGTGGGCGTCCCAGCCCATTGTCC CTGCTCTTCCCAC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024306	GCTGTGGG others(34): Show GCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00597.hp2 others(88): Show HG00140.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02572.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02970.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18952.hp2 NA18960.hp1 NA18967.hp1 NA18967.hp2 NA18972.hp1 NA18973.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA18997.hp1 NA19009.hp1 NA19011.hp2 NA19054.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19079.hp1 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0016 a0001c0017 others(3): Show a0001c0001 a0001c0016 a0001c0017 a0002c0003 a0003c0004 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0016t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0016t0002 a0001c0017t0002 a0002c0003t0002 a0003c0004t0001 a0003c0004t0025 a0005c0009t0002	a0001c0001t0001g0047 a0001c0001t0001g0168 a0001c0001t0001g0177 others(78): Show a0001c0001t0001g0047 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0192 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0016t0002g0182 a0001c0017t0002g0016 a0002c0003t0002g0019 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0101 a0003c0004t0025g0102 a0005c0009t0002g0249	91	319	0.2853	-41	c.142 others(58): Show c.142-7834_142-7794delCCAGCCCGTTGTCCCTGCTCTTCCCACC CTCTGTGGGCGTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024325	GTTGTCCC others(34): Show GTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCA	G G	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	319	0.0031	-41	c.142 others(58): Show c.142-7805_142-7765delTCTGTGGGCGTCTCAGCCCATTGTCCCT GCTCTTCCCACCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024550	CCGCTGTG others(34): Show CCGCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0054 a0001c0002t0003g0054	1	319	0.0031	-41	c.142 others(58): Show c.142-7600_142-7560delGCTGTGGGCGTCTCAGCCCATTGTCCCT GCTCTTCCCACTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024561	GTCTCAGC others(34): Show GTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01261.hp2 HG01978.hp1 others(4): Show HG01074.hp2 HG01261.hp2 HG01978.hp1 HG02622.hp1 HG03239.hp2 HG03942.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0049 others(4): Show a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0197 a0001c0001t0001g0219 a0001c0001t0001g0234 a0001c0001t0001g0235	7	319	0.0219	-41	c.142 others(58): Show c.142-7588_142-7548delTCAGCCCATTGTCCCTGCTCTTCCCACT CTCTGTGGGCATC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024564	TCAGCCCA others(34): Show TCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCATCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(83): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02486.hp1 HG02615.hp1 HG02683.hp1 HG02735.hp2 HG02897.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03540.hp2 HG03834.hp2 HG03942.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18960.hp2 NA18962.hp2 NA18968.hp1 NA18972.hp2 NA18973.hp2 NA18981.hp1 NA18984.hp2 NA18992.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19057.hp1 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19079.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0006 a0001c0008 others(3): Show a0001c0001 a0001c0006 a0001c0008 a0001c0010 a0002c0003 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0006t0009 a0001c0008t0023 a0001c0008t0024 a0001c0010t0001 a0002c0003t0001 a0009c0013t0017	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(72): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0070 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0002g0212 a0001c0001t0003g0013 a0001c0001t0003g0124 a0001c0001t0005g0003 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0091 a0001c0001t0005g0093 a0001c0001t0005g0095 a0001c0001t0006g0076 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0008g0082 a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0088 a0001c0001t0008g0092 a0001c0001t0008g0094 a0001c0001t0009g0083 a0001c0001t0009g0084 a0001c0001t0009g0085 a0001c0001t0009g0096 a0001c0001t0012g0120 a0001c0001t0019g0193 a0001c0001t0020g0202 a0001c0001t0021g0010 a0001c0001t0022g0199 a0001c0006t0009g0072 a0001c0006t0009g0097 a0001c0008t0023g0021 a0001c0008t0024g0021 a0001c0010t0001g0210 a0002c0003t0001g0034 a0002c0003t0001g0041 a0002c0003t0001g0208 a0002c0003t0001g0211 a0009c0013t0017g0098	86	319	0.2696	-41	c.142 others(58): Show c.142-7561_142-7521delTCTCTGTGGGCATCCCAGCCCATTGTCC CTGCTCTTCCCAC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024653	TTTGTCCC others(34): Show TTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03453.hp1 NA20129.hp1 HG02809.hp2 HG03453.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0011 a0001c0001t0003 a0001c0005t0011	a0001c0001t0003g0002 a0001c0005t0011g0002 a0001c0001t0003g0002 a0001c0005t0011g0002	3	319	0.0094	-41	c.142 others(58): Show c.142-7477_142-7437delGCTGTGGGCGTCCCAGCCCATTGTCCCT GCTCTTCCCACCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024769	TCAGCCCG others(34): Show TCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0117 a0001c0001t0015g0117	1	319	0.0031	-41	c.142 others(58): Show c.142-7376_142-7336delGTTGTCCCTGCTCTTCCCACCCGCTGTG GGCGTCCCAGCCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024796	CCGCTGTG others(34): Show CCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01358.hp1 HG02040.hp2 others(18): Show HG01106.hp2 HG01358.hp1 HG02040.hp2 HG02109.hp2 HG02155.hp2 HG02572.hp1 HG02698.hp1 HG02895.hp1 HG02970.hp1 HG03471.hp2 HG03491.hp2 HG04184.hp2 NA18942.hp1 NA18967.hp2 NA18973.hp1 NA18986.hp2 NA19011.hp2 NA19054.hp2 NA19065.hp1 NA19079.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0002 a0002c0003t0002 a0003c0004t0001 others(1): Show a0001c0001t0002 a0002c0003t0002 a0003c0004t0001 a0003c0004t0025	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0029 others(17): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0103 a0001c0001t0002g0132 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0192 a0001c0001t0002g0246 a0002c0003t0002g0019 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0101 a0003c0004t0025g0102	21	319	0.0658	-41	c.142 others(58): Show c.142-7354_142-7314delGCTGTGGGCGTCCCAGCCCTTTGTCCCT GCTCTTCCCACTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024810	CCAGCCCT others(34): Show CCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02738.hp2 NA19007.hp2 others(1): Show HG00558.hp1 HG02738.hp2 NA19007.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0207 a0001c0001t0001g0236 a0001c0001t0001g0023 a0001c0001t0001g0207 a0001c0001t0001g0236	4	319	0.0125	-41	c.142 others(58): Show c.142-7335_142-7295delTTTGTCCCTGCTCTTCCCACTCTCTGTG GGCGTCTCAGCCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024880	GCTGTGGG others(34): Show GCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02055.hp2 HG02738.hp2 others(4): Show HG00558.hp1 HG02055.hp2 HG02738.hp2 HG02965.hp2 NA19007.hp2 NA19064.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0023 a0001c0001t0001g0207 a0001c0001t0001g0236 others(3): Show a0001c0001t0001g0023 a0001c0001t0001g0207 a0001c0001t0001g0236 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0007g0259	7	319	0.0219	-41	c.142 others(58): Show c.142-7260_142-7220delCCAGCCCTTTGTCCCTGCTCTTCCCACT CTCTGTGGGCGTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024892	CCAGCCCT others(34): Show CCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02015.hp1 HG03239.hp2 others(3): Show HG01074.hp2 HG02015.hp1 HG03239.hp2 NA18948.hp2 NA18965.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0051 others(3): Show a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0186 a0001c0001t0001g0221 a0001c0001t0012g0119	6	319	0.0188	-41	c.142 others(58): Show c.142-7253_142-7213delTTTGTCCCTGCTCTTCCCACTCTCTGTG GGCGTCTCAGCCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025126	GCTGTGGG others(34): Show GCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02738.hp2 NA19064.hp2 others(1): Show HG00558.hp1 HG02738.hp2 NA19064.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0023 a0001c0001t0001g0207 a0001c0001t0001g0236 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0207 a0001c0001t0001g0236 a0001c0001t0007g0259	4	319	0.0125	-41	c.142 others(58): Show c.142-7014_142-6974delCCAGCCCTTTGTCCCTGCTCTTCCCACT CTCTGTGGGCGTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025145	TTTGTCCC others(34): Show TTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCG	T T	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18981.hp1 NA18939.hp1 NA18981.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0072 a0001c0006t0009g0097 a0001c0006t0009g0072 a0001c0006t0009g0097	2	319	0.0063	-41	c.142 others(58): Show c.142-6987_142-6947delTCTCTGTGGGCGTCTCAGCCCGTTGTCC CTGCTCTTCCCAC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025493	CCGCTGTG others(34): Show CCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0017 a0009c0013t0017	a0009c0013t0017g0098 a0009c0013t0017g0098	1	319	0.0031	-41	c.142 others(58): Show c.142-6657_142-6617delGCTGTGGGCGTCTCAGCCCGTTGTCCCT GCTCTTCCCACTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1026001	TCAGCCCA others(34): Show TCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00597.hp1 others(102): Show HG00140.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02970.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18952.hp2 NA18960.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18972.hp1 NA18973.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA19009.hp1 NA19011.hp2 NA19054.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19079.hp1 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0016 a0001c0017 others(4): Show a0001c0001 a0001c0016 a0001c0017 a0002c0003 a0003c0004 a0005c0009 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0016t0002 a0001c0017t0002 a0002c0003t0002 a0003c0004t0001 a0003c0004t0025 a0005c0009t0002 a0007c0014t0018	a0001c0001t0001g0047 a0001c0001t0001g0168 a0001c0001t0001g0177 others(89): Show a0001c0001t0001g0047 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0103 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0192 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0001t0015g0117 a0001c0016t0002g0182 a0001c0017t0002g0016 a0002c0003t0002g0019 a0002c0003t0002g0155 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0101 a0003c0004t0025g0102 a0005c0009t0002g0249 a0007c0014t0018g0104	105	319	0.3292	-41	c.142 others(58): Show c.142-6122_142-6082delTCTGTGGGCGTCCCAGCCCATTGTCCCT GCTCTTCCCACCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1026248	TCAGCCCA others(34): Show TCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCC	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	319	0.0031	-41	c.142 others(58): Show c.142-5897_142-5857delATTGTCCCTGCTCTTCCCACCCGCTGTG GGCGTCCCAGCCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NLRP4_chr19_55831540_55886855	55851492	TGGCTGCG others(34): Show TGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATTTACCGA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG03139.hp2 others(1): Show HG02258.hp1 HG02559.hp1 HG03139.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0017 others(1): Show a0002c0002 a0002c0003 a0002c0017 a0002c0043	a0002c0002t0005 a0002c0003t0015 a0002c0017t0020 others(1): Show a0002c0002t0005 a0002c0003t0015 a0002c0017t0020 a0002c0043t0005	a0002c0002t0005g0362 a0002c0003t0015g0224 a0002c0017t0020g0284 others(1): Show a0002c0002t0005g0362 a0002c0003t0015g0224 a0002c0017t0020g0284 a0002c0043t0005g0361	4	424	0.0094	-41	c.-65 others(56): Show c.-65-489_-65-449delTTACCGAGGCTGCGGTGTAATGTCCGTGGC TGCGGTGTAAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56000017	CCCACTCT others(34): Show CCCACTCTTTTCAATGACAGTTGTCCAGGGACTGCCACCTCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp1 HG02818.hp1 others(5): Show HG02572.hp2 HG02647.hp1 HG02818.hp1 HG02886.hp1 HG03041.hp2 HG03471.hp1 HG03579.hp1 HG03688.hp1	a0004 a0005 a0012 others(1): Show a0004 a0005 a0012 a0016	a0004c0020 a0004c0035 a0005c0113 others(2): Show a0004c0020 a0004c0035 a0005c0113 a0012c0018 a0016c0129	a0004c0020t0001 a0004c0020t0003 a0004c0035t0001 others(3): Show a0004c0020t0001 a0004c0020t0003 a0004c0035t0001 a0005c0113t0001 a0012c0018t0002 a0016c0129t0001	a0004c0020t0001g0096 a0004c0020t0003g0098 a0004c0035t0001g0094 others(5): Show a0004c0020t0001g0096 a0004c0020t0003g0098 a0004c0035t0001g0094 a0004c0035t0001g0095 a0004c0035t0001g0097 a0005c0113t0001g0099 a0012c0018t0002g0033 a0016c0129t0001g0100	8	396	0.0202	-41	c.62+ others(54): Show c.62+303_62+343delTGCCACCTCTCCACTCTTTTCAATGACAGTTG TCCAGGGAC	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56000130	CGGCCACC others(34): Show CGGCCACCTCTCCACTCTTCTCAATGACAGTTGCCCAGGCAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0391 a0007c0010t0001g0391	1	396	0.0025	-41	c.62+ others(54): Show c.62+356_62+396delACTCTTCTCAATGACAGTTGCCCAGGCATGGC CACCTCTCC	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NME8_chr7_37843597_37905397	37848214	AGAAGAAG others(34): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	388	0.0026	-41	c.-75 others(50): Show c.-754_-714delGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGA AGAAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		382		chr7	TogoVar
NME8_chr7_37843597_37905397	37848217	AGAAGAAG others(34): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA19058.hp1 NA19078.hp1 others(1): Show NA18975.hp1 NA19058.hp1 NA19078.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0001 a0001c0001t0003 a0004c0012t0001 a0001c0001t0001 a0001c0001t0003 a0004c0012t0001	a0001c0001t0001g0116 a0001c0001t0003g0005 a0004c0012t0001g0004 others(1): Show a0001c0001t0001g0116 a0001c0001t0003g0005 a0004c0012t0001g0004 a0004c0012t0001g0066	4	388	0.0103	-41	c.-75 others(50): Show c.-751_-711delGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGA AGAAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		379		chr7	TogoVar
NME8_chr7_37843597_37905397	37848220	AGAAGAAG others(34): Show AGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	388	0.0026	-41	c.-74 others(50): Show c.-748_-708delGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGA AGAAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		376		chr7	TogoVar
NOL6_chr9_33456353_33478924	33475144	ATATATAT others(34): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03516.hp1 HG02257.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0080 a0001c0002t0005g0081 a0001c0002t0005g0080 a0001c0002t0005g0081	2	438	0.0046	-41	c.-13 others(52): Show c.-1343_-1303delAAAAAAAAAAAAATATATATATATATATATATAT ATATATA	NOL6	ENSG00000165271.17	transcript	ENST00000297990.9	protein_coding		1221		chr9	TogoVar
NOP14_chr4_2932936_2968406	2960888	ATTATTAT others(34): Show ATTATTATATCAATATTATATTAATATTATATCGATATTATT	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	422	0.0024	-41	c.195 others(58): Show c.195+2196_195+2236delAATAATATCGATATAATATTAATATAAT ATTGATATAATAA	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOTCH3_chr19_15154038_15205995	15173727	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAGAAAAGAAGAAGGAGAAGGAGAAGGAG	A A	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp2 NA18999.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0279 a0001c0005t0001g0134 a0001c0001t0001g0279 a0001c0005t0001g0134	2	340	0.0059	-41	c.473 others(58): Show c.4736+300_4736+340delCTCCTTCTCCTTCTCCTTCTTCTTTTCT TTTTTTTTTTTTT	NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32			chr19	TogoVar
NPY4R_chr10_46456099_46470958	46466249	TTCTTTCT others(34): Show TTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0019	1	290	0.0035	-41	c.-82 others(50): Show c.-828_-788delGAGAGAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAG AAAGA	NPY4R	ENSG00000204174.8	transcript	ENST00000374312.5	protein_coding		292		chr10	TogoVar
NRDC_chr1_51784210_51883727	51846992	TGATTGGT others(34): Show TGATTGGTGCATTCACAAACCTTGAGATAGACACAGAGTGCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0160 a0002c0007t0001g0182 a0002c0007t0001g0160 a0002c0007t0001g0182	2	244	0.0082	-41	c.342 others(58): Show c.342-6519_342-6479delGGCACTCTGTGTCTATCTCAAGGTTTGT GAATGCACCAATC	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDC_chr1_51784210_51883727	51847093	CAGCTAGA others(34): Show CAGCTAGACACAGAGTGCAGATTGGTGCATTTACAAACCTTG	C C	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0009 a0001c0003t0001g0009	1	244	0.0041	-41	c.342 others(58): Show c.342-6620_342-6580delCAAGGTTTGTAAATGCACCAATCTGCAC TCTGTGTCTAGCT	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRXN1_chr2_49913503_51037132	50399789	TAAAAAAA others(34): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG02886.hp2 others(2): Show HG01884.hp1 HG02559.hp2 HG02886.hp2 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0014 a0001c0002t0005 a0001c0001t0006 a0001c0001t0014 a0001c0002t0005	a0001c0001t0006g0023 a0001c0001t0006g0027 a0001c0001t0014g0022 others(2): Show a0001c0001t0006g0023 a0001c0001t0006g0027 a0001c0001t0014g0022 a0001c0002t0005g0077 a0001c0002t0005g0083	5	116	0.0431	-41	c.336 others(62): Show c.3364+65612_3364+65652delTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NTAN1_chr16_15032857_15061074	15050888	AAACTAAA others(34): Show AAACTAAAGATTAAATGAACTGCAGTGTAAAATTAGATGGGC	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	453	0.0022	-41	c.82- others(56): Show c.82-2830_82-2790delGCCCATCTAATTTTACACTGCAGTTCATTT AATCTTTAGTT	NTAN1	ENSG00000157045.9	transcript	ENST00000287706.8	protein_coding	1/9			chr16	TogoVar
NTM_chr11_131365615_132341822	131465801	GTGGCAGG others(34): Show GTGGCAGGAATTATACCTAGCTTCATAGAAAAGGTCTGTGGT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02145.hp1 HG02145.hp2 others(5): Show HG01074.hp1 HG02145.hp1 HG02145.hp2 HG02615.hp2 HG02809.hp2 HG03471.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0086 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0086 a0001c0001t0002g0064 a0001c0001t0003g0081 a0001c0001t0005g0001 a0001c0001t0007g0021 a0001c0001t0008g0045	8	86	0.0930	-41	c.82+ others(58): Show c.82+94916_82+94956delGCAGGAATTATACCTAGCTTCATAGAAA AGGTCTGTGGTTG	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131671519	GCCCTCAC others(34): Show GCCCTCACCCTCCTCTGGGCTGGCAGGGCCTACCGGTGGCTA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18522.hp1 HG02145.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0081 a0001c0001t0007g0059 a0001c0001t0003g0081 a0001c0001t0007g0059	2	86	0.0233	-41	c.83- others(60): Show c.83-240027_83-239987delGCTGGCAGGGCCTACCGGTGGCTACC CTCACCCTCCTCTGG	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131873599	CATATATA others(34): Show CATATATATATACCGTATATATATACATATATATATACACAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03130.hp2 HG03471.hp2 HG02615.hp1 HG03130.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0001c0001t0001 a0001c0001t0004 a0001c0002t0003	a0001c0001t0001g0002 a0001c0001t0004g0072 a0001c0002t0003g0041 a0001c0001t0001g0002 a0001c0001t0004g0072 a0001c0002t0003g0041	3	86	0.0349	-41	c.83- others(58): Show c.83-37955_83-37915delTACCGTATATATATACATATATATATAC ACATATATATATA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131873609	TACCGTAT others(34): Show TACCGTATATATATACATATATATATACACATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG02735.hp1 others(2): Show HG00558.hp2 HG00642.hp1 HG02735.hp1 HG03041.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010	a0001c0001t0001g0037 a0001c0001t0003g0056 a0001c0001t0004g0043 others(2): Show a0001c0001t0001g0037 a0001c0001t0003g0056 a0001c0001t0004g0043 a0001c0001t0008g0070 a0001c0001t0010g0019	5	86	0.0581	-41	c.83- others(58): Show c.83-37952_83-37912delCGTATATATATACATATATATATACACA TATATATATACAC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUDT1_chr7_2237226_2256145	2240589	TTGTTACA others(34): Show TTGTTACAATAAATGTAACAATTTATTCACAGCCCACAATAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	414	0.0024	-41	c.-16 others(52): Show c.-1679_-1639delTGTTACAATAAATGTAACAATTTATTCACAGCCC ACAATAG	NUDT1	ENSG00000106268.16	transcript	ENST00000356714.6	protein_coding		1636		chr7	TogoVar
NUP62CL_chrX_107118427_107211433	107204883	TTTTAAAT others(34): Show TTTTAAATAAATTATTTAAATAAATTTTAAATAAATTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02886.hp1 HG02257.hp2 HG02486.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113	3	280	0.0107	-41	c.-92 others(58): Show c.-92+1349_-92+1389delTAAATAATTTATTTAAAATTTATTTAAA TAATTTATTTAAA	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8			chrX	TogoVar
NWD2_chr4_37239743_37454463	37331076	GTACAATA others(34): Show GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02451.hp1 others(3): Show HG01243.hp2 HG02145.hp1 HG02451.hp1 HG02922.hp1 HG03041.hp1 NA19030.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0011	a0001c0001 a0002c0003 a0005c0032 others(1): Show a0001c0001 a0002c0003 a0005c0032 a0011c0028	a0001c0001t0001 a0001c0001t0002 a0002c0003t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0009 a0005c0032t0002 a0011c0028t0003	a0001c0001t0001g0053 a0001c0001t0002g0033 a0001c0001t0002g0034 others(3): Show a0001c0001t0001g0053 a0001c0001t0002g0033 a0001c0001t0002g0034 a0002c0003t0009g0035 a0005c0032t0002g0054 a0011c0028t0003g0091	6	296	0.0203	-41	c.240 others(58): Show c.240+5093_240+5133delATACAATACCACCAGAATCATCACCCTA CTTGAGTATTTCT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37331212	AGAATCAT others(34): Show AGAATCATCACCCTACTTGAGTATTTCTATACAATACCACCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18522.hp1 HG01891.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0003 a0001c0010 a0002c0003	a0001c0010t0002 a0002c0003t0009 a0001c0010t0002 a0002c0003t0009	a0001c0010t0002g0177 a0002c0003t0009g0171 a0001c0010t0002g0177 a0002c0003t0009g0171	2	296	0.0068	-41	c.240 others(58): Show c.240+5229_240+5269delGGAATCATCACCCTACTTGAGTATTTCT ATACAATACCACC	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37331445	GTACAATA others(34): Show GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18522.hp1 HG01891.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0003 a0001c0010 a0002c0003	a0001c0010t0002 a0002c0003t0009 a0001c0010t0002 a0002c0003t0009	a0001c0010t0002g0177 a0002c0003t0009g0171 a0001c0010t0002g0177 a0002c0003t0009g0171	2	296	0.0068	-41	c.240 others(58): Show c.240+5503_240+5543delATACAATACCACCAGAATCATCACCCTA CTTGAGTATTTCT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NXNL1_chr19_17450425_17465926	17463917	GAAGAAAA others(34): Show GAAGAAAAGAAGAAGAAGAAAAGAAGAAGAAGAAGAAGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02630.hp2 others(5): Show HG01069.hp1 HG01071.hp1 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp2 HG03139.hp2 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0020 a0001c0001t0002g0009 a0001c0001t0002g0081 others(3): Show a0001c0001t0001g0020 a0001c0001t0002g0009 a0001c0001t0002g0081 a0001c0001t0002g0086 a0002c0002t0002g0005 a0002c0002t0002g0079	8	408	0.0196	-41	c.-30 others(52): Show c.-3089_-3049delTCTTCTTCTTCTTCTTCTTCTTTTCTTCTTCTTC TTTTCTT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2992		chr19	TogoVar
NXPH2_chr2_138664157_138785390	138766981	TAATATTA others(34): Show TAATATTAGATGGCTTCTATTAACTTCTTACTATGTAAGATA	T T	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	350	0.0029	-41	c.51+ others(58): Show c.51+13169_51+13209delTATCTTACATAGTAAGAAGTTAATAGAA GCCATCTAATATT	NXPH2	ENSG00000144227.5	transcript	ENST00000272641.4	protein_coding	1/1			chr2	TogoVar
OCLN_chr5_69487790_69563104	69522506	TAAAAATT others(34): Show TAAAAATTTACAGTGATTTTTAGCAAACTTAGAAGTGTCGTG	T T	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	290	0.0035	-41	c.891 others(58): Show c.891+8398_891+8438delAAAAATTTACAGTGATTTTTAGCAAACT TAGAAGTGTCGTG	OCLN	ENSG00000197822.12	transcript	ENST00000396442.7	protein_coding	4/8			chr5	TogoVar
ODAD3_chr19_11415605_11440121	11434252	TGGCTCAC others(34): Show TGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCGAGGCG	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03831.hp1 NA19080.hp2 HG02602.hp1 HG03831.hp1 NA19080.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0026 a0004c0004t0001g0027 a0004c0004t0001g0028 a0004c0004t0001g0026 a0004c0004t0001g0027 a0004c0004t0001g0028	3	398	0.0075	-41	c.244 others(56): Show c.244+480_244+520delCGCCTCGGCCTCCCAAACTGCTGGGATTAC AGGCGTGAGCC	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	1/12			chr19	TogoVar
OPCML_chr11_132409981_133537501	133140999	ACGACGAC others(34): Show ACGACGACGACGACGACGACGACGACGACGACGACGACGACG	A A	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	68	0.0147	-41	c.62- others(60): Show c.62-198030_62-197990delCGTCGTCGTCGTCGTCGTCGTCGTCG TCGTCGTCGTCGTCG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPHN1_chrX_68037344_68438495	68314007	ATTTTTTT others(34): Show ATTTTTTTAAAAAGAAATAAATGAGAGGACATTACTACCAAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	155	0.0065	-41	c.155 others(60): Show c.155-14952_155-14912delATTGGTAGTAATGTCCTCTCATTTAT TTCTTTTTAAAAAAA	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPN3_chr1_241588124_241645369	241639739	GAGCGGGG others(34): Show GAGCGGGGCGGTGTAGGGCGGGGGGCGCGGGGCCGAGCGGGA	G G	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	410	0.0024	-41	c.373 others(56): Show c.373+102_373+142delTCCCGCTCGGCCCCGCGCCCCCCGCCCTAC ACCGCCCCGCT	OPN3	ENSG00000054277.14	transcript	ENST00000366554.3	protein_coding	1/3			chr1	TogoVar

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Search Results (Total: 1267 hits)