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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Select column to sort.

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Results per page.

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
UMAD1_chr7_7635752_7884223	7678724	T T	TATATTTA others(16): Show TATATTTATATATTTAGTTTATAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG02895.hp1 others(4): Show HG02559.hp2 HG02630.hp2 HG02895.hp1 HG02970.hp2 HG03225.hp2 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0020 a0001c0001t0024 others(3): Show a0001c0001t0008 a0001c0001t0020 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0035	a0001c0001t0008g0159 a0001c0001t0008g0160 a0001c0001t0020g0156 others(4): Show a0001c0001t0008g0159 a0001c0001t0008g0160 a0001c0001t0020g0156 a0001c0001t0024g0230 a0001c0001t0026g0226 a0001c0001t0028g0041 a0001c0001t0035g0161	7	250	0.0280	23	c.82+ others(38): Show c.82+5275_82+5276insTTATATATTTAGTTTATAAATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7767128	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19088.hp1 NA19090.hp1 HG02056.hp1 NA19088.hp1 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0001c0001t0083 a0003c0005t0002 a0001c0001t0003 a0001c0001t0083 a0003c0005t0002	a0001c0001t0003g0208 a0001c0001t0083g0132 a0003c0005t0002g0079 a0001c0001t0003g0208 a0001c0001t0083g0132 a0003c0005t0002g0079	3	250	0.0120	23	c.83- others(40): Show c.83-34528_83-34527insTTTTTTTTTTTTTTTTTTTTTTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7777574	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0229 a0001c0001t0041g0229	1	250	0.0040	23	c.83- others(40): Show c.83-24096_83-24095insTATATATATATATATATATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3			chr7	TogoVar
UMAD1_chr7_7635752_7884223	7796244	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02486.hp2 HG02071.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0061 a0001c0001t0005 a0001c0001t0061	a0001c0001t0005g0048 a0001c0001t0061g0152 a0001c0001t0005g0048 a0001c0001t0061g0152	2	250	0.0080	23	c.83- others(38): Show c.83-5424_83-5402dupTTTTTTTTTTTTTTTTTTTTTTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7820195	G G	GTATGAGA others(16): Show GTATGAGATCTGAGGAAGATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(142): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00733.hp1 HG00733.hp2 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01884.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 NA18747.hp1 NA18906.hp2 NA18949.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18968.hp1 NA18968.hp2 NA18975.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19076.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0059 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0068 a0001c0001t0069 a0001c0001t0072 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0082 a0001c0001t0084 a0001c0002t0063 a0001c0002t0073 a0001c0004t0039 a0002c0003t0081	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0017 others(141): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0187 a0001c0001t0001g0212 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0062 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0083 a0001c0001t0002g0116 a0001c0001t0002g0167 a0001c0001t0003g0128 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0181 a0001c0001t0003g0200 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0238 a0001c0001t0004g0091 a0001c0001t0004g0131 a0001c0001t0004g0144 a0001c0001t0004g0170 a0001c0001t0005g0008 a0001c0001t0005g0011 a0001c0001t0005g0022 a0001c0001t0005g0036 a0001c0001t0005g0048 a0001c0001t0005g0077 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0096 a0001c0001t0006g0134 a0001c0001t0006g0171 a0001c0001t0006g0176 a0001c0001t0007g0032 a0001c0001t0007g0035 a0001c0001t0007g0059 a0001c0001t0007g0069 a0001c0001t0007g0105 a0001c0001t0007g0195 a0001c0001t0008g0058 a0001c0001t0008g0063 a0001c0001t0008g0155 a0001c0001t0008g0160 a0001c0001t0009g0021 a0001c0001t0009g0098 a0001c0001t0009g0193 a0001c0001t0009g0194 a0001c0001t0010g0097 a0001c0001t0010g0100 a0001c0001t0010g0168 a0001c0001t0011g0040 a0001c0001t0011g0044 a0001c0001t0011g0045 a0001c0001t0012g0057 a0001c0001t0012g0080 a0001c0001t0012g0087 a0001c0001t0012g0108 a0001c0001t0012g0197 a0001c0001t0013g0049 a0001c0001t0013g0084 a0001c0001t0013g0104 a0001c0001t0013g0129 a0001c0001t0014g0002 a0001c0001t0014g0015 a0001c0001t0015g0111 a0001c0001t0015g0139 a0001c0001t0017g0135 a0001c0001t0017g0201 a0001c0001t0018g0106 a0001c0001t0018g0180 a0001c0001t0018g0198 a0001c0001t0019g0078 a0001c0001t0019g0192 a0001c0001t0020g0026 a0001c0001t0021g0006 a0001c0001t0021g0025 a0001c0001t0021g0042 a0001c0001t0022g0239 a0001c0001t0022g0244 a0001c0001t0024g0143 a0001c0001t0024g0230 a0001c0001t0025g0001 a0001c0001t0026g0056 a0001c0001t0026g0191 a0001c0001t0026g0226 a0001c0001t0027g0221 a0001c0001t0027g0228 a0001c0001t0028g0041 a0001c0001t0029g0215 a0001c0001t0029g0217 a0001c0001t0030g0243 a0001c0001t0030g0248 a0001c0001t0031g0209 a0001c0001t0031g0246 a0001c0001t0033g0088 a0001c0001t0034g0164 a0001c0001t0035g0161 a0001c0001t0035g0223 a0001c0001t0036g0225 a0001c0001t0037g0220 a0001c0001t0038g0199 a0001c0001t0040g0005 a0001c0001t0040g0234 a0001c0001t0041g0229 a0001c0001t0044g0120 a0001c0001t0045g0211 a0001c0001t0047g0183 a0001c0001t0049g0013 a0001c0001t0051g0130 a0001c0001t0052g0137 a0001c0001t0054g0227 a0001c0001t0055g0231 a0001c0001t0057g0122 a0001c0001t0059g0151 a0001c0001t0061g0152 a0001c0001t0064g0190 a0001c0001t0065g0214 a0001c0001t0068g0141 a0001c0001t0069g0051 a0001c0001t0072g0024 a0001c0001t0075g0016 a0001c0001t0076g0218 a0001c0001t0077g0179 a0001c0001t0078g0149 a0001c0001t0082g0068 a0001c0001t0084g0188 a0001c0002t0063g0158 a0001c0002t0073g0241 a0001c0004t0039g0154 a0002c0003t0081g0072	145	250	0.5800	23	c.156 others(42): Show c.156+18459_156+18460insTCTGAGGAAGATATATTATGAGA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7840503	C C	CATTGCCA others(16): Show CATTGCCAAGCCAATTCTTCTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(93): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00639.hp1 HG00733.hp2 HG00741.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01993.hp2 HG02004.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA18952.hp2 NA18960.hp1 NA18975.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0047 a0001c0001t0048 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0064 a0001c0001t0067 a0001c0001t0071 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078 a0001c0001t0079 a0001c0001t0084 a0001c0002t0001 a0001c0002t0063 a0001c0004t0039 a0002c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0054 others(92): Show a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0187 a0001c0001t0001g0212 a0001c0001t0002g0014 a0001c0001t0002g0030 a0001c0001t0002g0070 a0001c0001t0003g0107 a0001c0001t0003g0128 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0181 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0004g0012 a0001c0001t0004g0091 a0001c0001t0005g0033 a0001c0001t0006g0093 a0001c0001t0006g0096 a0001c0001t0006g0176 a0001c0001t0006g0184 a0001c0001t0008g0071 a0001c0001t0008g0155 a0001c0001t0009g0021 a0001c0001t0011g0065 a0001c0001t0013g0124 a0001c0001t0013g0129 a0001c0001t0014g0009 a0001c0001t0014g0015 a0001c0001t0014g0219 a0001c0001t0015g0111 a0001c0001t0015g0139 a0001c0001t0016g0146 a0001c0001t0016g0148 a0001c0001t0021g0042 a0001c0001t0022g0121 a0001c0001t0022g0244 a0001c0001t0023g0245 a0001c0001t0023g0249 a0001c0001t0024g0038 a0001c0001t0024g0230 a0001c0001t0025g0001 a0001c0001t0025g0095 a0001c0001t0026g0226 a0001c0001t0027g0221 a0001c0001t0027g0228 a0001c0001t0027g0237 a0001c0001t0028g0018 a0001c0001t0028g0041 a0001c0001t0029g0233 a0001c0001t0032g0019 a0001c0001t0033g0088 a0001c0001t0033g0203 a0001c0001t0035g0161 a0001c0001t0036g0163 a0001c0001t0037g0220 a0001c0001t0037g0224 a0001c0001t0038g0089 a0001c0001t0038g0199 a0001c0001t0040g0005 a0001c0001t0040g0234 a0001c0001t0041g0229 a0001c0001t0042g0162 a0001c0001t0044g0120 a0001c0001t0047g0183 a0001c0001t0048g0186 a0001c0001t0052g0137 a0001c0001t0053g0020 a0001c0001t0054g0227 a0001c0001t0055g0231 a0001c0001t0056g0064 a0001c0001t0058g0165 a0001c0001t0060g0213 a0001c0001t0061g0152 a0001c0001t0062g0235 a0001c0001t0064g0190 a0001c0001t0067g0222 a0001c0001t0071g0004 a0001c0001t0075g0016 a0001c0001t0076g0218 a0001c0001t0078g0149 a0001c0001t0079g0150 a0001c0001t0084g0188 a0001c0002t0001g0196 a0001c0002t0063g0158 a0001c0004t0039g0154 a0002c0003t0001g0047	96	250	0.3840	23	c.157 others(42): Show c.157-36764_157-36763insTCTTCTTTTATTGCCAAGCCAAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMOD_chr16_20328051_20357715	20345400	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0067 a0001c0003t0002g0067	1	404	0.0025	23	c.118 others(40): Show c.1182+725_1182+726insGAAAGAAAGAAAGAAAGAAAGAA	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UNC13A_chr19_17596336_17693354	17608385	T T	TATATATA others(16): Show TATATATATTATATATGTATATAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp1 HG01070.hp1 others(13): Show HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01168.hp1 HG01169.hp1 HG01261.hp1 HG01496.hp2 HG01516.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG03130.hp1 HG03831.hp2 NA19043.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0007 a0001c0011 others(7): Show a0001c0002 a0001c0007 a0001c0011 a0001c0020 a0001c0024 a0001c0066 a0002c0005 a0002c0009 a0004c0048 a0004c0064	a0001c0002t0005 a0001c0002t0019 a0001c0002t0020 others(10): Show a0001c0002t0005 a0001c0002t0019 a0001c0002t0020 a0001c0007t0005 a0001c0011t0020 a0001c0020t0005 a0001c0024t0019 a0001c0066t0019 a0002c0005t0020 a0002c0009t0005 a0002c0009t0043 a0004c0048t0005 a0004c0064t0005	a0001c0002t0005g0121 a0001c0002t0019g0092 a0001c0002t0020g0025 others(13): Show a0001c0002t0005g0121 a0001c0002t0019g0092 a0001c0002t0020g0025 a0001c0007t0005g0173 a0001c0011t0020g0035 a0001c0020t0005g0077 a0001c0024t0019g0100 a0001c0066t0019g0054 a0002c0005t0020g0088 a0002c0009t0005g0006 a0002c0009t0005g0007 a0002c0009t0005g0008 a0002c0009t0005g0182 a0002c0009t0043g0225 a0004c0048t0005g0177 a0004c0064t0005g0136	16	320	0.0500	23	c.481 others(42): Show c.4811+1554_4811+1555insTTATATACATATATAATATATAT	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	43/43			chr19	TogoVar
UNC13A_chr19_17596336_17693354	17631203	C C	CCTCCCTT others(16): Show CCTCCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp1 HG02647.hp1 HG02809.hp1	a0001 a0001	a0001c0056 a0001c0057 a0001c0056 a0001c0057	a0001c0056t0002 a0001c0057t0024 a0001c0056t0002 a0001c0057t0024	a0001c0056t0002g0124 a0001c0057t0024g0233 a0001c0056t0002g0124 a0001c0057t0024g0233	2	320	0.0063	23	c.342 others(40): Show c.3429-454_3429-453insAAGGAAGGAAGGAAGGAAGGGAG	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43			chr19	TogoVar
UNC13B_chr9_35157009_35410335	35157648	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03225.hp1 HG03471.hp2 others(4): Show HG02622.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 NA20300.hp2	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0001 a0002c0003 a0002c0011 others(1): Show a0001c0001 a0002c0003 a0002c0011 a0021c0047	a0001c0001t0001 a0002c0003t0001 a0002c0011t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0011t0001 a0021c0047t0001	a0001c0001t0001g0012 a0001c0001t0001g0162 a0002c0003t0001g0206 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0162 a0002c0003t0001g0206 a0002c0003t0001g0207 a0002c0011t0001g0175 a0002c0011t0001g0177 a0021c0047t0001g0164	7	224	0.0313	23	c.-46 others(34): Show c.-4636_-4635insTTTTTTTTTTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding		4360		chr9	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19002.hp2 HG00621.hp2 NA19002.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0036 a0002c0010t0001g0099 a0002c0010t0001g0036 a0002c0010t0001g0099	2	224	0.0089	23	c.152 others(38): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35257308	A A	ATATAAAT others(16): Show ATATAAATATTTATAAAAATATTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA21309.hp2 HG02080.hp1 NA21309.hp2	a0008 a0020 a0008 a0020	a0008c0012 a0020c0044 a0008c0012 a0020c0044	a0008c0012t0001 a0020c0044t0001 a0008c0012t0001 a0020c0044t0001	a0008c0012t0001g0070 a0020c0044t0001g0150 a0008c0012t0001g0070 a0020c0044t0001g0150	2	224	0.0089	23	c.469 others(40): Show c.469-1685_469-1684insTATAAATATTTATAAAAATATTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	6/39			chr9	TogoVar
UNC13B_chr9_35157009_35410335	35297561	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTGTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01255.hp1 HG02738.hp1 HG01175.hp2 HG01255.hp1 HG02738.hp1	a0002 a0029 a0002 a0029	a0002c0004 a0029c0030 a0002c0004 a0029c0030	a0002c0004t0001 a0029c0030t0001 a0002c0004t0001 a0029c0030t0001	a0002c0004t0001g0034 a0002c0004t0001g0212 a0029c0030t0001g0072 a0002c0004t0001g0034 a0002c0004t0001g0212 a0029c0030t0001g0072	3	224	0.0134	23	c.761 others(40): Show c.761+1637_761+1638insTTTTTTTTGTTTTTTTGTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	8/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	AAAAATTT others(16): Show AAAAATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0082 a0001c0002t0002g0082	1	158	0.0063	23	c.298 others(44): Show c.2983+22238_2983+22239insAAAATTTTTTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32			chr15	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	ATAAAAAT others(16): Show ATAAAAATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA20129.hp1 HG01243.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0141 a0001c0002t0001g0040 a0001c0001t0002g0141 a0001c0002t0001g0040	2	158	0.0127	23	c.298 others(44): Show c.2983+22239_2983+22240insAAAAATTTTTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	ATATAAAT others(16): Show ATATAAATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0158 a0001c0001t0037g0158	1	158	0.0063	23	c.298 others(44): Show c.2983+22239_2983+22240insATAAATTTTTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54138953	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0081 a0001c0002t0008g0081	1	158	0.0063	23	c.298 others(42): Show c.2984-4062_2984-4040dupTTTTTTTTTTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54408199	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0089 a0001c0001t0036g0089	1	158	0.0063	23	c.484 others(42): Show c.4848-6775_4848-6753dupAAAAAAAAAAAAAAAAAAAAAAA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	18/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC45B_chr17_35142817_35194343	35166086	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG01099.hp1 others(9): Show HG00280.hp2 HG00639.hp1 HG01099.hp1 HG01891.hp2 HG02723.hp1 HG02735.hp2 HG02976.hp1 HG03098.hp1 HG03486.hp2 NA19000.hp2 NA19060.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0021 a0004c0007 a0001c0001 a0001c0021 a0004c0007	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0021t0005 a0004c0007t0005	a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0005g0035 others(8): Show a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0005g0035 a0001c0001t0005g0211 a0001c0001t0005g0212 a0001c0001t0005g0215 a0001c0001t0006g0039 a0001c0001t0011g0257 a0001c0021t0005g0039 a0004c0007t0005g0268 a0004c0007t0005g0269	12	434	0.0277	23	c.115 others(42): Show c.1151+1923_1151+1945dupAAAAAAAAAAAAAAAAAAAAAAA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC5C_chr4_95157504_95553973	95354479	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0078 a0001c0003t0013g0078	1	204	0.0049	23	c.125 others(42): Show c.125-18849_125-18848insAAAAATATATATATATATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95354480	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0042 a0001c0009t0004g0042	1	204	0.0049	23	c.125 others(42): Show c.125-18850_125-18849insTATATATATATATATATATATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35230512	C C	CACACACA others(16): Show CACACACACACACACACAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	64	0.0156	23	c.-52 others(34): Show c.-5273_-5272insACACACACACACACACAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding		4962		chr8	TogoVar
UNC5D_chr8_35230475_35801540	35230512	C C	CACACACA others(16): Show CACACACACACACACACACAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	64	0.0156	23	c.-52 others(34): Show c.-5273_-5272insACACACACACACACACACAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding		4962		chr8	TogoVar
UNC5D_chr8_35230475_35801540	35230512	C C	CACACACA others(16): Show CACACACACACACACACACACAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0011 a0001c0001t0019g0011	1	64	0.0156	23	c.-52 others(34): Show c.-5273_-5272insACACACACACACACACACACAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding		4962		chr8	TogoVar
UNC5D_chr8_35230475_35801540	35749989	T T	TTTGTAAA others(16): Show TTTGTAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19240.hp2 HG02922.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0014 a0001c0003t0003 a0001c0003t0014	a0001c0003t0003g0009 a0001c0003t0014g0040 a0001c0003t0003g0009 a0001c0003t0014g0040	2	64	0.0313	23	c.193 others(40): Show c.1936-593_1936-592insTTGTAAAAAAAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	12/16			chr8	TogoVar
UNC79_chr14_93425939_93712876	93695890	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18988.hp2 HG02109.hp1 NA18988.hp2	a0002 a0003 a0002 a0003	a0002c0008 a0003c0004 a0002c0008 a0003c0004	a0002c0008t0001 a0003c0004t0001 a0002c0008t0001 a0003c0004t0001	a0002c0008t0001g0095 a0003c0004t0001g0126 a0002c0008t0001g0095 a0003c0004t0001g0126	2	193	0.0104	23	c.788 others(42): Show c.7881+1498_7881+1499insAAAAAAAAAAAAAAAAAAAAAAA	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	50/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNK_chr17_75779806_75830799	75782239	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA20300.hp1 NA18981.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0002 a0001c0006t0005 a0001c0003t0002 a0001c0006t0005	a0001c0003t0002g0119 a0001c0006t0005g0112 a0001c0003t0002g0119 a0001c0006t0005g0112	2	358	0.0056	23	c.-26 others(34): Show c.-2642_-2641insTTTTTTTTTTTTTTTTTTTTTTT	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding		2566		chr17	TogoVar
UNK_chr17_75779806_75830799	75784188	T T	TGGCAAAG others(16): Show TGGCAAAGGTAAATGAAGCGCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0236	1	358	0.0028	23	c.-69 others(32): Show c.-693_-692insGGCAAAGGTAAATGAAGCGCCTC	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding		617		chr17	TogoVar
UPF2_chr10_11915022_12047809	11991956	G G	GCCAACAT others(16): Show GCCAACATGATGAAACCCTGTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01192.hp1 HG02970.hp2 others(3): Show HG00140.hp2 HG01192.hp1 HG02970.hp2 HG03139.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0007 a0001c0006t0008 a0001c0006t0013 a0001c0004t0007 a0001c0006t0008 a0001c0006t0013	a0001c0004t0007g0114 a0001c0004t0007g0115 a0001c0004t0007g0116 others(3): Show a0001c0004t0007g0114 a0001c0004t0007g0115 a0001c0004t0007g0116 a0001c0004t0007g0117 a0001c0006t0008g0330 a0001c0006t0013g0331	6	334	0.0180	23	c.184 others(42): Show c.1844+5693_1844+5715dupGAGACAGGGTTTCATCATGTTGG	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	8/21			chr10	TogoVar
UPK1B_chr3_119168598_119210143	119179507	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0332 a0001c0001t0010g0332	1	422	0.0024	23	c.-29 others(40): Show c.-29+5889_-29+5890insTTTTTTTTTTTTTTTTTTTTTTT	UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
UPK3A_chr22_45279949_45300874	45282183	T T	TAGAAGAA others(16): Show TAGAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0022	1	444	0.0023	23	c.-28 others(34): Show c.-2831_-2830insAGAAGAAAGAAAGAAAGAAAGAA	UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding		2765		chr22	TogoVar
UPK3BL1_chr7_102632025_102647791	102643232	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0101 a0001c0001t0008g0101	1	140	0.0071	23	c.-49 others(32): Show c.-492_-491insTTTTTTTTTTTTTTTTTTTTTTT	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		442		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547866	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0021 a0001c0006t0008g0021	1	182	0.0055	23	c.-42 others(34): Show c.-4231_-4230insCTTTCTTTCTTTCTTTCTTTCTT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4171		chr7	TogoVar
UQCC1_chr20_35297578_35416973	35338888	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp1 HG02258.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0046 a0002c0002t0003g0048 a0002c0002t0003g0046 a0002c0002t0003g0048	2	256	0.0078	23	c.573 others(40): Show c.573+8275_573+8276insATATATATATATATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338890	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02129.hp2 HG03239.hp1 others(4): Show HG01891.hp1 HG02129.hp2 HG03239.hp1 HG04115.hp1 NA18941.hp2 NA18978.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0191 others(4): Show a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0213 a0002c0002t0004g0040	7	256	0.0273	23	c.573 others(40): Show c.573+8273_573+8274insATATATATATATATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	256	0.0039	23	c.573 others(40): Show c.573+8271_573+8272insATATATATATATATATATTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18967.hp2 HG02145.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0170 a0001c0001t0001g0176	2	256	0.0078	23	c.573 others(40): Show c.573+8271_573+8272insATATATATATATATATATATATT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03654.hp2 HG03942.hp1 HG00597.hp1 HG03654.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0174 a0001c0001t0001g0229 a0001c0001t0001g0144 a0001c0001t0001g0174 a0001c0001t0001g0229	3	256	0.0117	23	c.573 others(40): Show c.573+8271_573+8272insATATATATATATATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35410704	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp2 HG01081.hp2 others(10): Show HG00639.hp2 HG01071.hp2 HG01081.hp2 HG01257.hp2 HG02630.hp2 HG02809.hp2 NA18947.hp2 NA18953.hp1 NA18974.hp2 NA18980.hp1 NA19064.hp2 NA19087.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0006 a0001c0001t0001 a0002c0002t0001 a0002c0002t0006	a0001c0001t0001g0142 a0001c0001t0001g0195 a0001c0001t0001g0236 others(10): Show a0001c0001t0001g0142 a0001c0001t0001g0195 a0001c0001t0001g0236 a0001c0001t0001g0237 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0101 a0002c0002t0006g0084	13	256	0.0508	23	c.24+ others(38): Show c.24+1235_24+1236insTTTTTTTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	1/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35412617	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG02886.hp2 HG01891.hp1 HG02615.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0031 a0002c0002t0004g0039 a0002c0002t0004g0040 a0002c0002t0004g0031 a0002c0002t0004g0039 a0002c0002t0004g0040	3	256	0.0117	23	c.-65 others(32): Show c.-655_-654insTTTTTTTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding		645		chr20	TogoVar
UQCC1_chr20_35297578_35416973	35415259	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0147 a0001c0007t0001g0147	1	256	0.0039	23	c.-32 others(34): Show c.-3297_-3296insAAAAAAAAAAAAAAAAAAAAAAA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding		3287		chr20	TogoVar
UQCC5_chr3_52531605_52546890	52542619	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01993.hp1 HG02486.hp2 others(4): Show HG00735.hp1 HG01993.hp1 HG02486.hp2 HG04184.hp2 NA19010.hp2 NA19056.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	7	388	0.0180	23	c.21 others(34): Show c.2134_*2135insAAAAAAAAAAAAAAAAAAAAAAA	UQCC5	ENSG00000168273.8	transcript	ENST00000477703.6	protein_coding		730		chr3	TogoVar
URB1_chr21_32306018_32398012	32361159	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0017 a0017	a0017c0041 a0017c0041	a0017c0041t0039 a0017c0041t0039	a0017c0041t0039g0100 a0017c0041t0039g0100	1	338	0.0030	23	c.164 others(38): Show c.1640-37_1640-36insCTTTCTTTCTTTCTTTCTTTCTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	12/38			chr21	TogoVar
USO1_chr4_75719577_75819286	75759246	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0169 a0001c0009t0007g0169	1	288	0.0035	23	c.295 others(40): Show c.295+1691_295+1692insTTTTTTTTTTTTTTTTTTTTTTT	USO1	ENSG00000138768.15	transcript	ENST00000514213.7	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP10_chr16_84695000_84784922	84702993	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0338 a0001c0006t0001g0338	1	430	0.0023	23	c.21+ others(38): Show c.21+2902_21+2903insAAAAAAAAAAAAAAAAAAAAAAA	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
USP13_chr3_179648040_179794401	179728930	C C	CAGAGGGA others(16): Show CAGAGGGAGACCGTGGAGAGAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp1 HG02027.hp1 others(9): Show HG00140.hp2 HG01099.hp1 HG02027.hp1 HG02129.hp1 HG02523.hp1 HG02683.hp2 HG02698.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA19000.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0002 a0001c0001t0037 a0001c0004t0002 others(4): Show a0001c0001t0002 a0001c0001t0037 a0001c0004t0002 a0001c0004t0006 a0001c0004t0012 a0001c0006t0001 a0001c0006t0002	a0001c0001t0002g0003 a0001c0001t0002g0117 a0001c0001t0002g0212 others(9): Show a0001c0001t0002g0003 a0001c0001t0002g0117 a0001c0001t0002g0212 a0001c0001t0002g0257 a0001c0001t0037g0029 a0001c0004t0002g0182 a0001c0004t0002g0267 a0001c0004t0006g0107 a0001c0004t0006g0225 a0001c0004t0012g0062 a0001c0006t0001g0153 a0001c0006t0002g0138	12	300	0.0400	23	c.108 others(42): Show c.1089-1243_1089-1221dupAGAGAGGGAGAGGGAGACCGTGG	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP13_chr3_179648040_179794401	179774527	G G	GTTCCTCC others(16): Show GTTCCTCCTGTCCAGAGTTGCTCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp2 HG02965.hp1 others(2): Show HG01109.hp1 HG02572.hp2 HG02965.hp1 HG03453.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0006 a0001c0002t0006 a0001c0006t0006 a0001c0001t0006 a0001c0002t0006 a0001c0006t0006	a0001c0001t0006g0241 a0001c0001t0006g0288 a0001c0001t0006g0297 others(2): Show a0001c0001t0006g0241 a0001c0001t0006g0288 a0001c0001t0006g0297 a0001c0002t0006g0169 a0001c0006t0006g0181	5	300	0.0167	23	c.241 others(42): Show c.2414-7200_2414-7199insAGAGTTGCTCATTCCTCCTGTCC	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP14_chr18_153557_219629	171023	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19084.hp2 NA19081.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0115 a0001c0001t0001g0098 a0001c0001t0001g0115	2	380	0.0053	23	c.195 others(40): Show c.195+4204_195+4205insTATATATATATATATATATATAT	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15			chr18	TogoVar
USP14_chr18_153557_219629	171025	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02723.hp2 HG01167.hp1 HG01169.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0056 a0001c0001t0003 a0001c0001t0056	a0001c0001t0003g0019 a0001c0001t0056g0161 a0001c0001t0003g0019 a0001c0001t0056g0161	3	380	0.0079	23	c.195 others(40): Show c.195+4207_195+4208insATATATATATATATATATATATA	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
USP14_chr18_153557_219629	171025	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0172 a0001c0001t0035g0172	1	380	0.0026	23	c.195 others(40): Show c.195+4206_195+4207insTATATATATATATATATATATAT	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15			chr18	TogoVar

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