JoGo: Joint Open Genome and Omics Platform

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
PRKAG2_chr7_151551127_151882115	151603132	A A	ACTCACCG others(23): Show ACTCACCGCACACGGAGGGACACGCTCCGTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(89): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01192.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01516.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02258.hp2 HG02300.hp1 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp2 HG03209.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18971.hp1 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19010.hp2 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19074.hp1 NA19074.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0002c0004 a0003c0005 a0005c0011 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0003t0001 a0001c0003t0003 a0001c0007t0001 a0002c0004t0001 a0003c0005t0001 a0003c0005t0003 a0005c0011t0004 a0007c0013t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0026 others(89): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0002g0039 a0001c0001t0002g0047 a0001c0001t0002g0170 a0001c0001t0003g0016 a0001c0001t0003g0021 a0001c0001t0003g0056 a0001c0001t0003g0090 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0103 a0001c0001t0003g0111 a0001c0001t0003g0122 a0001c0001t0003g0131 a0001c0001t0003g0137 a0001c0001t0003g0145 a0001c0001t0003g0169 a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0214 a0001c0001t0004g0219 a0001c0001t0004g0231 a0001c0001t0004g0247 a0001c0001t0010g0159 a0001c0001t0011g0233 a0001c0001t0011g0237 a0001c0001t0011g0241 a0001c0001t0012g0220 a0001c0001t0012g0224 a0001c0001t0012g0243 a0001c0001t0014g0119 a0001c0001t0014g0120 a0001c0001t0015g0240 a0001c0001t0026g0108 a0001c0001t0027g0127 a0001c0001t0030g0222 a0001c0001t0032g0249 a0001c0003t0001g0185 a0001c0003t0003g0106 a0001c0003t0003g0109 a0001c0007t0001g0045 a0002c0004t0001g0023 a0002c0004t0001g0035 a0003c0005t0001g0014 a0003c0005t0001g0051 a0003c0005t0003g0050 a0005c0011t0004g0246 a0007c0013t0001g0208	92	252	0.3651	30	c.755 others(47): Show c.755-7708_755-7679dupGACGGAGCGTGTCCCTCCGTGTGCGGTG AG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151603279	C C	CGTCCTCA others(23): Show CGTCCTCACCGCACACGGAGGGACACGCTCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	252	0.0040	30	c.755 others(47): Show c.755-7826_755-7825insAGAGCGTGTCCCTCCGTGTGCGGTGAGG AC	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151603393	A A	ACGCTCCG others(23): Show ACGCTCCGTCCTCACCGCACACGGAGGCACC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp2 HG03486.hp2 others(3): Show HG03139.hp1 HG03195.hp2 HG03486.hp2 HG03491.hp2 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0007 a0001c0001t0005 a0001c0002t0007	a0001c0001t0005g0225 a0001c0002t0007g0017 a0001c0002t0007g0065 others(3): Show a0001c0001t0005g0225 a0001c0002t0007g0017 a0001c0002t0007g0065 a0001c0002t0007g0069 a0001c0002t0007g0144 a0001c0002t0007g0179	6	252	0.0238	30	c.755 others(47): Show c.755-7940_755-7939insGGTGCCTCCGTGTGCGGTGAGGACGGAG CG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151603467	C C	CCGCACAC others(23): Show CCGCACACGGAGGGACACGCTCCGTCCTCAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02818.hp2 HG02895.hp2 HG01109.hp2 HG02818.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015	a0001c0001t0006g0140 a0001c0001t0010g0159 a0001c0001t0015g0240 a0001c0001t0006g0140 a0001c0001t0010g0159 a0001c0001t0015g0240	3	252	0.0119	30	c.755 others(47): Show c.755-8014_755-8013insATGAGGACGGAGCGTGTCCCTCCGTGTG CG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151603483	C C	CCGCTCCG others(23): Show CCGCTCCGTCCTCACCGCACACGGAGGGACA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	252	0.0040	30	c.755 others(47): Show c.755-8059_755-8030dupTGTCCCTCCGTGTGCGGTGAGGACGGAG CG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151603543	C C	CCGCTCCG others(23): Show CCGCTCCGTCCTCACCGCACACGGAGGGACA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	252	0.0040	30	c.755 others(47): Show c.755-8119_755-8090dupTGTCCCTCCGTGTGCGGTGAGGACGGAG CG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151603633	C C	CCGCTCCG others(23): Show CCGCTCCGTCCTCACCGCACACGGAGGGACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00621.hp1 others(45): Show HG00408.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG01070.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01943.hp1 HG02015.hp2 HG02056.hp2 HG02083.hp1 HG02293.hp1 HG02300.hp2 HG02602.hp1 HG02698.hp1 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03942.hp2 NA18747.hp2 NA18906.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18954.hp1 NA18971.hp2 NA18983.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0021 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0021 a0001c0001t0022 a0001c0002t0007 a0001c0007t0002 a0002c0004t0003 a0002c0004t0023	a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0019 others(45): Show a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0030 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0048 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0092 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0133 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0164 a0001c0001t0002g0168 a0001c0001t0002g0181 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0005g0213 a0001c0001t0005g0225 a0001c0001t0005g0228 a0001c0001t0005g0229 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0245 a0001c0001t0021g0008 a0001c0001t0022g0009 a0001c0002t0007g0017 a0001c0002t0007g0065 a0001c0002t0007g0069 a0001c0002t0007g0144 a0001c0002t0007g0153 a0001c0002t0007g0179 a0001c0007t0002g0034 a0002c0004t0003g0121 a0002c0004t0023g0033	48	252	0.1905	30	c.755 others(47): Show c.755-8180_755-8179insTGTCCCTCCGTGTGCGGTGAGGACGGAG CG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151669882	T T	TTGCATGC others(23): Show TTGCATGCACACACACCTGCATGCACATACC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(144): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01168.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01516.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0002c0004 a0003c0005 a0005c0011 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0002t0007 a0001c0003t0003 a0001c0006t0002 a0001c0006t0003 a0001c0007t0001 a0001c0007t0002 a0001c0009t0031 a0002c0004t0001 a0002c0004t0003 a0002c0004t0023 a0003c0005t0001 a0003c0005t0003 a0005c0011t0004 a0006c0012t0006	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0020 others(144): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0092 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0001t0002g0124 a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0164 a0001c0001t0002g0168 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0003g0016 a0001c0001t0003g0021 a0001c0001t0003g0090 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0103 a0001c0001t0003g0111 a0001c0001t0003g0122 a0001c0001t0003g0131 a0001c0001t0003g0137 a0001c0001t0003g0169 a0001c0001t0003g0180 a0001c0001t0003g0191 a0001c0001t0004g0211 a0001c0001t0004g0218 a0001c0001t0004g0221 a0001c0001t0004g0226 a0001c0001t0004g0231 a0001c0001t0004g0234 a0001c0001t0004g0238 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0247 a0001c0001t0005g0213 a0001c0001t0005g0225 a0001c0001t0005g0227 a0001c0001t0005g0239 a0001c0001t0005g0245 a0001c0001t0006g0085 a0001c0001t0006g0152 a0001c0001t0008g0123 a0001c0001t0008g0135 a0001c0001t0008g0136 a0001c0001t0009g0004 a0001c0001t0009g0005 a0001c0001t0010g0132 a0001c0001t0010g0159 a0001c0001t0010g0160 a0001c0001t0011g0237 a0001c0001t0011g0241 a0001c0001t0014g0119 a0001c0001t0014g0120 a0001c0001t0015g0230 a0001c0001t0016g0250 a0001c0001t0017g0001 a0001c0001t0018g0007 a0001c0001t0020g0006 a0001c0001t0021g0008 a0001c0001t0022g0009 a0001c0001t0025g0125 a0001c0001t0028g0210 a0001c0001t0029g0217 a0001c0001t0033g0252 a0001c0002t0007g0017 a0001c0002t0007g0065 a0001c0002t0007g0069 a0001c0002t0007g0153 a0001c0002t0007g0179 a0001c0003t0003g0106 a0001c0003t0003g0109 a0001c0006t0002g0104 a0001c0006t0003g0011 a0001c0007t0001g0045 a0001c0007t0002g0034 a0001c0009t0031g0248 a0002c0004t0001g0023 a0002c0004t0001g0035 a0002c0004t0003g0121 a0002c0004t0023g0033 a0003c0005t0001g0014 a0003c0005t0001g0051 a0003c0005t0003g0050 a0005c0011t0004g0246 a0006c0012t0006g0149	147	252	0.5833	30	c.684 others(47): Show c.684+5508_684+5537dupGGTATGTGCATGCAGGTGTGTGTGCATG CA	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	4/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151669887	T T	TGCACACA others(23): Show TGCACACACACCTGCATGCACATACCTGCAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(73): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp2 HG00621.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02083.hp1 HG02135.hp1 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG03017.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp2 HG04199.hp2 NA18939.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18962.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19011.hp1 NA19060.hp1 NA19060.hp2 NA19074.hp1 NA19074.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0003 a0001c0010 others(2): Show a0001c0001 a0001c0003 a0001c0010 a0004c0008 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0026 a0001c0003t0001 a0001c0003t0002 a0001c0010t0024 a0004c0008t0002 a0007c0013t0001	a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0036 others(73): Show a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0002g0030 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0078 a0001c0001t0002g0091 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0129 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0170 a0001c0001t0002g0181 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0003g0056 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0193 a0001c0001t0004g0215 a0001c0001t0004g0219 a0001c0001t0005g0216 a0001c0001t0005g0223 a0001c0001t0005g0228 a0001c0001t0005g0229 a0001c0001t0005g0232 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0006g0060 a0001c0001t0006g0140 a0001c0001t0006g0174 a0001c0001t0008g0093 a0001c0001t0008g0100 a0001c0001t0009g0002 a0001c0001t0011g0233 a0001c0001t0013g0031 a0001c0001t0013g0032 a0001c0001t0015g0240 a0001c0001t0016g0251 a0001c0001t0026g0108 a0001c0003t0001g0185 a0001c0003t0002g0165 a0001c0010t0024g0162 a0004c0008t0002g0207 a0007c0013t0001g0208	76	252	0.3016	30	c.684 others(47): Show c.684+5532_684+5533insGTGCAGGTATGTGCATGCAGGTGTGTGT GC	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	4/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151832265	A A	AAGGGAGG others(23): Show AAGGGAGGAGGGAGGAGGGAGGGAAGGGAGG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0145	1	252	0.0040	30	c.114 others(49): Show c.114+44241_114+44242insCCTCCCTTCCCTCCCTCCTCCCTCCT CCCT	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151874183	T T	TATGTATA others(23): Show TATGTATATGATGTATATGTATATGTATATG	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19057.hp1 HG02486.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0130 a0001c0001t0001g0115 a0001c0001t0001g0130	2	252	0.0079	30	c.114 others(47): Show c.114+2323_114+2324insCATATACATATACATATACATCATATAC AT	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAR2A_chr3_48741586_48852874	48829590	A A	ACACACAC others(23): Show ACACACACATAAATGTGTGTGTATACGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18612.hp1 NA19003.hp2 others(1): Show HG03098.hp2 NA18612.hp1 NA19003.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0125 a0001c0001t0001g0137 others(1): Show a0001c0001t0001g0099 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0156	4	166	0.0241	30	c.262 others(49): Show c.262+17744_262+17745insCACACGTATACACACACATTTATGTG TGTG	PRKAR2A	ENSG00000114302.17	transcript	ENST00000265563.13	protein_coding	1/10			chr3	TogoVar
PRKAR2B_chr7_107039705_107166811	107158200	T T	TAGTAAAG others(23): Show TAGTAAAGGTGAGTGAGTGAAAGTCTATTAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG01070.hp1 others(31): Show HG00280.hp1 HG00423.hp2 HG01070.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01884.hp1 HG01934.hp2 HG01943.hp2 HG02027.hp2 HG02056.hp1 HG02109.hp2 HG02129.hp1 HG02622.hp1 HG02683.hp2 HG02970.hp1 HG03098.hp2 HG03239.hp2 HG03669.hp1 HG03704.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18955.hp2 NA18964.hp2 NA18973.hp1 NA18992.hp1 NA19001.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0006t0002	a0001c0001t0001g0088 a0001c0001t0001g0275 a0001c0001t0002g0009 others(31): Show a0001c0001t0001g0088 a0001c0001t0001g0275 a0001c0001t0002g0009 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0062 a0001c0001t0002g0078 a0001c0001t0002g0084 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0165 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0006t0002g0205 a0001c0006t0002g0219	34	282	0.1206	30	c.112 others(47): Show c.1123+906_1123+935dupCAGTAAAGGTGAGTGAGTGAAAGTCTAT TA	PRKAR2B	ENSG00000005249.14	transcript	ENST00000265717.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
PRKCA_chr17_66297613_66815743	66368364	G G	GTGTATGT others(23): Show GTGTATGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0112 a0001c0001t0087g0112	1	178	0.0056	30	c.205 others(49): Show c.205+62238_205+62239insGTATGTATATATATATATATATATAT ATAT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66495525	G G	GTATTTTA others(23): Show GTATTTTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp2 HG01891.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0016 a0001c0009t0034 a0001c0001t0016 a0001c0009t0034	a0001c0001t0016g0098 a0001c0009t0034g0158 a0001c0001t0016g0098 a0001c0009t0034g0158	2	178	0.0112	30	c.206 others(45): Show c.206-664_206-635dupATTTTATTTTATTTTATTTTATTTTATTTT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66587683	G G	GTGTGTGT others(23): Show GTGTGTGTATATGTATACATATATACGTATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	178	0.0056	30	c.289 others(49): Show c.289-53574_289-53545dupATATGTATACATATATACGTATATGT GTGT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66765418	C C	CTATCTAT others(23): Show CTATCTATATCTATATATCTATATATCTATA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02083.hp2 HG02273.hp2 others(4): Show HG02004.hp2 HG02083.hp2 HG02273.hp2 HG03453.hp2 NA18945.hp1 NA18999.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0007 a0001c0001t0086 a0001c0002t0083 others(4): Show a0001c0001t0007 a0001c0001t0086 a0001c0002t0083 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008	a0001c0001t0007g0029 a0001c0001t0086g0122 a0001c0002t0083g0138 others(4): Show a0001c0001t0007g0029 a0001c0001t0086g0122 a0001c0002t0083g0138 a0001c0003t0001g0086 a0001c0003t0004g0079 a0001c0003t0005g0082 a0001c0003t0008g0030	7	178	0.0393	30	c.152 others(49): Show c.1525-8566_1525-8565insCTATATCTATATATCTATATATCTAT ATAT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799547	G G	GTGGTGGT others(23): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	178	0.0056	30	c.185 others(49): Show c.1855-4306_1855-4305insGTGGTGGTGATGGTGGTGGTGGTGGT GGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCB_chr16_23830983_24225611	23882017	T T	TCTCTTTC others(23): Show TCTCTTTCTTTCTTTCTTTCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0002 a0001c0002t0018g0002	1	148	0.0068	30	c.205 others(49): Show c.205+44613_205+44614insCTTTCTTTCTTTCTTTCTTCCTTCCT TCCT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23882021	T T	TCTCTTTC others(23): Show TCTCTTTCTTTCTTTCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA20300.hp1 HG01496.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0055 a0001c0001t0007 a0001c0002t0055	a0001c0001t0007g0005 a0001c0002t0055g0114 a0001c0001t0007g0005 a0001c0002t0055g0114	2	148	0.0135	30	c.205 others(49): Show c.205+44617_205+44618insCTTTCTTTCTTTCTTCCTTCCTTCCT TCCT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23882021	T T	TCTCTTTC others(23): Show TCTCTTTCTTTCTTTCTTTCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02735.hp1 HG02602.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0066 a0001c0001t0033 a0001c0001t0066	a0001c0001t0033g0060 a0001c0001t0066g0007 a0001c0001t0033g0060 a0001c0001t0066g0007	2	148	0.0135	30	c.205 others(49): Show c.205+44617_205+44618insCTTTCTTTCTTTCTTTCTTCCTTCCT TCCT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23882021	T T	TCTTTCTC others(23): Show TCTTTCTCTTTCTTTCTTTCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0121 a0001c0002t0031g0121	1	148	0.0068	30	c.205 others(49): Show c.205+44618_205+44619insTCTCTTTCTTTCTTTCTTCCTTCCTT CCTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23882021	T T	TCTTTCTT others(23): Show TCTTTCTTTCTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0082 a0001c0006t0082	a0001c0006t0082g0093 a0001c0006t0082g0093	1	148	0.0068	30	c.205 others(49): Show c.205+44618_205+44619insTCTTTCTCTTTCTTTCTTTCTTTCTT CCTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24110128	A A	ACCGTGGA others(23): Show ACCGTGGAAAGAGAGGGAGAGGGAGACCGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG03041.hp2 others(4): Show HG02109.hp1 HG02615.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03471.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0018	a0001c0001t0010 a0001c0001t0041 a0001c0001t0049 others(4): Show a0001c0001t0010 a0001c0001t0041 a0001c0001t0049 a0001c0002t0012 a0001c0002t0083 a0001c0006t0039 a0001c0018t0008	a0001c0001t0010g0053 a0001c0001t0041g0097 a0001c0001t0049g0101 others(4): Show a0001c0001t0010g0053 a0001c0001t0041g0097 a0001c0001t0049g0101 a0001c0002t0012g0148 a0001c0002t0083g0068 a0001c0006t0039g0025 a0001c0018t0008g0048	7	148	0.0473	30	c.822 others(47): Show c.822-2845_822-2844insCCGTGGAAAGAGAGGGAGAGGGAGACCG TG	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16			chr16	TogoVar
PRKCB_chr16_23830983_24225611	24182873	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01358.hp1 HG02896.hp2 others(2): Show HG01070.hp2 HG01358.hp1 HG02896.hp2 NA18998.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0002 a0001c0002t0043 a0001c0003t0001 others(2): Show a0001c0002t0002 a0001c0002t0043 a0001c0003t0001 a0001c0003t0010 a0001c0006t0002	a0001c0002t0002g0017 a0001c0002t0043g0059 a0001c0003t0001g0128 others(2): Show a0001c0002t0002g0017 a0001c0002t0043g0059 a0001c0003t0001g0128 a0001c0003t0010g0143 a0001c0006t0002g0035	5	148	0.0338	30	c.153 others(49): Show c.1533+1974_1533+1975insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCD_chr3_53156209_53197717	53156624	A A	AGGCGGGG others(23): Show AGGCGGGGCGGGGCGGGGCGGGGCGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0235 a0001c0002t0002g0235	1	322	0.0031	30	c.-49 others(41): Show c.-4936_-4935insGGCGGGGCGGGGCGGGGCGGGGCGGGGCGG	PRKCD	ENSG00000163932.16	transcript	ENST00000330452.8	protein_coding		4584		chr3	TogoVar
PRKCE_chr2_45646675_46192990	45958791	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	168	0.0060	30	c.413 others(49): Show c.413-17612_413-17611insATATATATATATATATATATATATAT ATAT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTCC others(23): Show CCTCCTCCTCCTCCTCCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA19010.hp1 HG04228.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0272 a0001c0007t0001g0151 a0001c0001t0001g0272 a0001c0007t0001g0151	2	362	0.0055	30	c.176 others(47): Show c.1765-231_1765-230insCCTCCTCCTCCTCCTTCTTCTTCTTCTT CT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTCC others(23): Show CCTCCTCCTCCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0153 a0001c0004t0001g0153	1	362	0.0028	30	c.176 others(47): Show c.1765-231_1765-230insCCTCCTCCTTCTTCTTCTTCTTCTTCTT CT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTCC others(23): Show CCTCCTCCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02970.hp2 HG01361.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0257 a0001c0001t0004g0215 a0001c0001t0001g0257 a0001c0001t0004g0215	2	362	0.0055	30	c.176 others(47): Show c.1765-231_1765-230insCCTCCTTCTTCTTCTTCTTCTTCTTCTT CT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTTC others(23): Show CCTCCTTCTTCTTCTTCCTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0145 a0001c0006t0003g0145	1	362	0.0028	30	c.176 others(47): Show c.1765-231_1765-230insCCTTCTTCTTCTTCCTCTTCTTCTTCTT CT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTTCTTC others(23): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	362	0.0028	30	c.176 others(47): Show c.1765-226_1765-197dupCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCH_chr14_61316579_61555976	61528973	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0088 a0001c0003t0002g0088	1	208	0.0048	30	c.143 others(45): Show c.1434-98_1434-69dupTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCZ_chr1_2045411_2190395	2122808	C C	CACGGTGG others(23): Show CACGGTGGTGGTTAGGGTTGTGGTGGTTAGG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	286	0.0035	30	c.335 others(49): Show c.335-12454_335-12453insACGGTGGTGGTTAGGGTTGTGGTGGT TAGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKD2_chr19_46669316_46722114	46680924	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01106.hp2 HG00280.hp1 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0154 a0001c0001t0002g0344 a0001c0001t0001g0154 a0001c0001t0002g0344	2	378	0.0053	30	c.207 others(47): Show c.2070+725_2070+726insTATATATATATATATATATATATATATA TA	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17			chr19	TogoVar
PRKD2_chr19_46669316_46722114	46703958	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	378	0.0027	30	c.889 others(45): Show c.889+181_889+210dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	5/17			chr19	TogoVar
PRKD3_chr2_37245502_37329833	37249643	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0326 a0001c0002t0001g0326	1	388	0.0026	30	c.35 others(41): Show c.3504_*3533dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PRKD3	ENSG00000115825.11	transcript	ENST00000234179.8	protein_coding		858		chr2	TogoVar
PRKDC_chr8_47768111_47965136	47775431	G G	GGGCCTTT others(23): Show GGGCCTTTCAAGTTGAATGGAGTCATCATTA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0113 a0001c0011t0001g0113	1	198	0.0051	30	c.121 others(51): Show c.12183-1055_12183-1054insTAATGATGACTCCATTCAACTTGA AAGGCC	PRKDC	ENSG00000253729.9	transcript	ENST00000314191.7	protein_coding	85/85			chr8	TogoVar
PRKDC_chr8_47768111_47965136	47831635	A A	AGAGCGCC others(23): Show AGAGCGCCATGAGGGCTGCATCCCTGTGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	198	0.0051	30	c.826 others(47): Show c.8265+149_8265+178dupCCCCACAGGGATGCAGCCCTCATGGCGC TC	PRKDC	ENSG00000253729.9	transcript	ENST00000314191.7	protein_coding	60/85			chr8	TogoVar
PRKG1_chr10_51069487_52303350	51115372	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02622.hp2 HG03130.hp1 others(2): Show HG00639.hp1 HG02622.hp2 HG03130.hp1 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 a0001c0002t0001 a0001c0006t0007	a0001c0001t0001g0038 a0001c0001t0005g0031 a0001c0001t0014g0032 others(2): Show a0001c0001t0001g0038 a0001c0001t0005g0031 a0001c0001t0014g0032 a0001c0002t0001g0017 a0001c0006t0007g0050	5	64	0.0781	30	c.312 others(49): Show c.312-37779_312-37778insTATATATATATATATATATATATATA TATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51374093	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0024 a0001c0002t0006g0024	1	64	0.0156	30	c.479 others(49): Show c.479-93629_479-93628insAAAAAATATATATATATATATATATA TATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51553752	A A	ATATTAGA others(23): Show ATATTAGATACGTGTATATAATATATGTATG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp1 HG02109.hp2 HG01099.hp1 HG01192.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0001 a0001c0001t0005 a0001c0001t0013	a0001c0001t0001g0047 a0001c0001t0005g0061 a0001c0001t0013g0012 a0001c0001t0001g0047 a0001c0001t0005g0061 a0001c0001t0013g0012	3	64	0.0469	30	c.592 others(49): Show c.592+85945_592+85946insGTATTAGATACGTGTATATAATATAT GTAT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51554004	C C	CATATTAT others(23): Show CATATTATATGTGCGTATGTGATACGTGTAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp2 HG00140.hp1 HG01099.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0051 a0002c0004t0001g0044 a0001c0001t0001g0051 a0002c0004t0001g0044	2	64	0.0313	30	c.592 others(49): Show c.592+86282_592+86311dupCGTGTATATATTATATGTGCGTATGT GATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51554118	C C	CGTGTATA others(23): Show CGTGTATATATTATATGTGCGTATGTGATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp1 HG02109.hp2 others(1): Show HG01099.hp1 HG01192.hp1 HG02109.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0001 a0001c0001t0005 a0001c0001t0013	a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0005g0061 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0005g0061 a0001c0001t0013g0012	4	64	0.0625	30	c.592 others(49): Show c.592+86328_592+86357dupGTGCGTATGTGATATGTGTATATATT ATAT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51570067	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02559.hp1 HG02886.hp1 others(2): Show HG00735.hp1 HG02559.hp1 HG02886.hp1 HG03453.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0046 a0001c0001t0003g0060 a0001c0001t0005g0018 others(2): Show a0001c0001t0001g0046 a0001c0001t0003g0060 a0001c0001t0005g0018 a0001c0001t0007g0007 a0001c0002t0001g0052	5	64	0.0781	30	c.592 others(51): Show c.592+102232_592+102233insATATATATATATATATATATATAT ATATGT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51570067	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18522.hp1 HG03225.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0031 a0001c0002t0002g0025 a0001c0001t0005g0031 a0001c0002t0002g0025	2	64	0.0313	30	c.592 others(51): Show c.592+102232_592+102233insATATATATATATATATATATATAT ATGTGT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51858399	A A	ATTATTAA others(23): Show ATTATTAATATATATAATATATATATAATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01123.hp2 HG02109.hp2 others(1): Show HG00140.hp2 HG01123.hp2 HG02109.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012	a0001c0001t0001g0047 a0001c0001t0002g0036 a0001c0001t0004g0035 others(1): Show a0001c0001t0001g0047 a0001c0001t0002g0036 a0001c0001t0004g0035 a0001c0001t0012g0045	4	64	0.0625	30	c.699 others(49): Show c.699-49108_699-49107insTTATTAATATATATAATATATATATA ATAT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17			chr10	TogoVar
PRKG1_chr10_51069487_52303350	52249011	T T	TCCTTCCC others(23): Show TCCTTCCCTCCCCTTCCCTCCCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp2 HG02615.hp1 others(14): Show HG01123.hp1 HG01243.hp2 HG02615.hp1 HG02615.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03486.hp2 HG03579.hp1 HG03688.hp1 NA18522.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0002t0003 a0001c0002t0006 a0001c0003t0002 a0001c0005t0002 a0001c0007t0004 a0001c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0019 others(14): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0057 a0001c0001t0002g0005 a0001c0001t0002g0059 a0001c0001t0004g0028 a0001c0001t0006g0011 a0001c0001t0008g0027 a0001c0002t0003g0014 a0001c0002t0003g0030 a0001c0002t0003g0034 a0001c0002t0006g0013 a0001c0003t0002g0033 a0001c0005t0002g0037 a0001c0007t0004g0056 a0001c0008t0001g0020	17	64	0.2656	30	c.107 others(49): Show c.1077-2519_1077-2490dupCCCTTCCCTCCCCTTCCCTCCCCTTC CCTC	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKN_chr6_161342417_162732766	161368382	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0008 a0002c0002t0009g0008	1	32	0.0313	30	c.116 others(49): Show c.1168-8178_1168-8177insATATATATATATATATATATATATAT ATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	10/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161757833	A A	ATCTCTCT others(23): Show ATCTCTCTCCCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0027 a0001c0003t0003g0027	1	32	0.0313	30	c.871 others(49): Show c.871+27938_871+27939insGAGAGAGAGAGAGAGAGAGAGGGAGA GAGA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar

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Search Results (Total: 10000 hits)