Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SRP68_chr17_76033785_76077517	76062741	A A	AATATACA others(215): Show AATATACATTATATATTATATAATATATAATATACATTATATATTATATA ATATACATTATATATTATATAATATACATTATATATTATATAATATATAA TATACATTATATATTATATAATATATAATATACATTATATATTATATAAT ATATAATATACATTATATATTATATAATATATACATTATATATTATATAT TATACAATATATTATATTTATTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	365	0.0027	222	c.562 others(239): Show c.562-1168_562-1167insAAATAAATATAATATATTGTATAATATA TAATATATAATGTATATATTATATAATATATAATGTATATTATATATTAT ATAATATATAATGTATATTATATATTATATAATATATAATGTATATTATA TATTATATAATATATAATGTATATTATATAATATATAATGTATATTATAT AATATATAATGTATATTATATATTATATAATATATAATGTATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRXN1_chr20_641615_658200	642352	G G	GGGGGGGG others(215): Show GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGG GGCCCAGCGGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 NA19064.hp1 HG00733.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0122 a0001c0002t0004g0007 a0001c0001t0004g0122 a0001c0002t0004g0007	2	422	0.0047	222	c.63 others(233): Show c.6361_*6362insGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAC AGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC TCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4262		chr20	TogoVar
STK32C_chr10_132202492_132312950	132265126	C C	CGCAAGGG others(215): Show CGCAAGGGCAGTGAGGTGGGCTCTGGGGGAGCTGCCAGGGCGGCGAGGTG GCTCTGGGGGAGCCGCAAGGGCAGTGAGGTGGGCTCTGGGGGAGCCGCAA GGGCAGTGAGGTGGGCTCTGGGGGAGCTGCCAGGGCGGCGAGGTGGCTCT GGGGGTGCCGCAAGGGCGGTGAGGTGGGCTCTGGGGGAGCCGCAAGGGCG GTGAGGTGGGCTCTGGGGGAGCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02922.hp1 HG01884.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0335 a0001c0001t0001g0047 a0001c0001t0001g0335	2	368	0.0054	222	c.263 others(241): Show c.263-19172_263-19171insAGCTCCCCCAGAGCCCACCTCACCGC CCTTGCGGCTCCCCCAGAGCCCACCTCACCGCCCTTGCGGCACCCCCAGA GCCACCTCGCCGCCCTGGCAGCTCCCCCAGAGCCCACCTCACTGCCCTTG CGGCTCCCCCAGAGCCCACCTCACTGCCCTTGCGGCTCCCCCAGAGCCAC CTCGCCGCCCTGGCAGCTCCCCCAGAGCCCACCTCACTGCCCTTGC	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
SUCO_chr1_172528150_172616833	172571926	A A	AGGTGGGG others(215): Show AGGTGGGGGTCAGCCCCTGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCTGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCCTCTGGGAAGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA19240.hp2 HG01081.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0121 a0001c0001t0002g0122	2	340	0.0059	222	c.104 others(241): Show c.1049+1196_1049+1197insGGTGGGGGTCAGCCCCTGCCAGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAG CTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCCTCTGGGAAGG	SUCO	ENSG00000094975.15	transcript	ENST00000263688.4	protein_coding	9/23			chr1	TogoVar
SYNDIG1_chr20_24464629_24671616	24661491	G G	GGGAGGAA others(215): Show GGGAGGAAAGAAAGAGGAGGTAGGAAGGAGAGAGGGAAGAGGGAGGAAAG AGGGAGGGAAGAGGGAGGAAGGAGGGAAGGAAGAGGGAGAGAAGAGGGAG GGAGGAGGGAGGGAGGAGGGAAGAAAGAAGGAGGAGTTAGGAAAGAGGGA GGGAAAGGGGAGGAAGGAGGGAGGAAAGAGGGAGGAGGTAGAAAGGAGGG AGGGAAGAGGAAGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02965.hp2 others(2): Show HG02109.hp1 HG02486.hp1 HG02965.hp2 HG03041.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0010 a0003c0004t0001 a0001c0001t0001 a0001c0001t0010 a0003c0004t0001	a0001c0001t0001g0020 a0001c0001t0001g0249 a0001c0001t0010g0144 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0249 a0001c0001t0010g0144 a0003c0004t0001g0182 a0003c0004t0001g0236	5	270	0.0185	222	c.619 others(239): Show c.619-3850_619-3849insAAAGAAAGAGGAGGTAGGAAGGAGAGAG GGAAGAGGGAGGAAAGAGGGAGGGAAGAGGGAGGAAGGAGGGAAGGAAGA GGGAGAGAAGAGGGAGGGAGGAGGGAGGGAGGAGGGAAGAAAGAAGGAGG AGTTAGGAAAGAGGGAGGGAAAGGGGAGGAAGGAGGGAGGAAAGAGGGAG GAGGTAGAAAGGAGGGAGGGAAGAGGAAGGAGGGAGGGAGGAGG	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
SYNDIG1_chr20_24464629_24671616	24661491	G G	GGGAGGAA others(215): Show GGGAGGAAAGAAGGAGGAAGTAGGAAGGAGAGAGGGAAGAGGGAGGAAAG AGGGAGGGAAGAGGGAGGAAGGAGGGAAGGAAGAGGGAGAGAAGAGGGAG GGAGGAGGGAGGGAGGAGGGAAGAAAGAAGGAGGAGTTAGGAAAGAGGGA GGGAAAGGGGAGGAAGGAGGGAGGAAAGAGGGAGGAGGTAGAAAGGAGGG AGGGAAGAGGAAGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02976.hp2 HG02486.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0229 a0001c0001t0001g0024 a0001c0001t0001g0229	2	270	0.0074	222	c.619 others(239): Show c.619-3850_619-3849insAAAGAAGGAGGAAGTAGGAAGGAGAGAG GGAAGAGGGAGGAAAGAGGGAGGGAAGAGGGAGGAAGGAGGGAAGGAAGA GGGAGAGAAGAGGGAGGGAGGAGGGAGGGAGGAGGGAAGAAAGAAGGAGG AGTTAGGAAAGAGGGAGGGAAAGGGGAGGAAGGAGGGAGGAAAGAGGGAG GAGGTAGAAAGGAGGGAGGGAAGAGGAAGGAGGGAGGGAGGAGG	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
SYNDIG1_chr20_24464629_24671616	24661491	G G	GGGAGGAA others(215): Show GGGAGGAAAGAAGGAGGAGGTAGGAAGGAGAGAGGGAAGAGGGACGAAAG AGGGAGGGAAGAGGGAGGAAGGAGGGAAGGAAGAGGGAGAGAAGAGGGAG GGAGGAGGGAGGGAGGAGGGAAGAAAGAAGGAGGAGTTAGGAAAGAGGGA GGGAAAGGGGAGGAAGGAGGGAGGAAAGAGGGAGGAGGTAGAAAGGAGGG AGGGAAGAGGAAGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01261.hp1 HG02257.hp1 others(6): Show HG01109.hp2 HG01261.hp1 HG02257.hp1 HG02559.hp2 HG02630.hp1 HG02976.hp1 HG03139.hp2 HG03209.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0025 a0001c0001t0001g0239 a0001c0001t0001g0240 others(6): Show a0001c0001t0001g0025 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0014g0009	9	270	0.0333	222	c.619 others(239): Show c.619-3850_619-3849insAAAGAAGGAGGAGGTAGGAAGGAGAGAG GGAAGAGGGACGAAAGAGGGAGGGAAGAGGGAGGAAGGAGGGAAGGAAGA GGGAGAGAAGAGGGAGGGAGGAGGGAGGGAGGAGGGAAGAAAGAAGGAGG AGTTAGGAAAGAGGGAGGGAAAGGGGAGGAAGGAGGGAGGAAAGAGGGAG GAGGTAGAAAGGAGGGAGGGAAGAGGAAGGAGGGAGGGAGGAGG	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
SYNDIG1_chr20_24464629_24671616	24661491	G G	GGGAGGAA others(215): Show GGGAGGAAAGAAGGAGGAGGTAGGAAGGAGAGAGGGAAGAGGGAGGAAAG AGGGAGGGAAGAGGGAGGAAGGAGGGAAGGAAGAGGGAGAGAAGAGGGAG GGAGGAGGGAGGGAGGAGGGAAGAAAGAAGGAGGAGTTAGGAAAGAGGGA GGGAAAGGGGAGGAAGGAGGGAGGAAAGAGGGAGGAGGTAGAAAGGAGGG AGGGAAGAGGAAGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(230): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0005 a0001c0001 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0002c0003t0001 a0002c0003t0011 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(230): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0002g0047 a0001c0001t0002g0055 a0001c0001t0002g0081 a0001c0001t0002g0107 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0129 a0001c0001t0002g0139 a0001c0001t0002g0143 a0001c0001t0002g0194 a0001c0001t0002g0212 a0001c0001t0004g0167 a0001c0001t0004g0233 a0001c0001t0004g0257 a0001c0001t0005g0043 a0001c0001t0005g0140 a0001c0001t0006g0142 a0001c0001t0006g0253 a0001c0001t0007g0045 a0001c0001t0007g0270 a0001c0001t0008g0265 a0001c0001t0009g0117 a0001c0001t0012g0112 a0001c0001t0013g0235 a0001c0001t0015g0120 a0002c0003t0001g0040 a0002c0003t0011g0076 a0004c0005t0001g0269	233	270	0.8630	222	c.619 others(239): Show c.619-3850_619-3849insAAAGAAGGAGGAGGTAGGAAGGAGAGAG GGAAGAGGGAGGAAAGAGGGAGGGAAGAGGGAGGAAGGAGGGAAGGAAGA GGGAGAGAAGAGGGAGGGAGGAGGGAGGGAGGAGGGAAGAAAGAAGGAGG AGTTAGGAAAGAGGGAGGGAAAGGGGAGGAAGGAGGGAGGAAAGAGGGAG GAGGTAGAAAGGAGGGAGGGAAGAGGAAGGAGGGAGGGAGGAGG	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
SYNDIG1_chr20_24464629_24671616	24661491	G G	GGGAGGAA others(215): Show GGGAGGAAAGAAGGAGGAGGTAGGAAGGAGAGAGGGAAGAGGGAGGAAAG ATGGAGGGAAGAGGGAGGAAGGAGGGAAGGAAGAGGGAGAGAAGAGGGAG GGAGGAGGGAGGGAGGAGGGAAGAAAGAAGGAGGAGTTAGGAAAGAGGGA GGGAAAGGGGAGGAAGGAGGGAGGAAAGAGGGAGGAGGTAGAAAGGAGGG AGGGAAGAGGAAGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp2 HG02895.hp1 others(2): Show HG02055.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 others(2): Show a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0156	5	270	0.0185	222	c.619 others(239): Show c.619-3850_619-3849insAAAGAAGGAGGAGGTAGGAAGGAGAGAG GGAAGAGGGAGGAAAGATGGAGGGAAGAGGGAGGAAGGAGGGAAGGAAGA GGGAGAGAAGAGGGAGGGAGGAGGGAGGGAGGAGGGAAGAAAGAAGGAGG AGTTAGGAAAGAGGGAGGGAAAGGGGAGGAAGGAGGGAGGAAAGAGGGAG GAGGTAGAAAGGAGGGAGGGAAGAGGAAGGAGGGAGGGAGGAGG	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
SYT1_chr12_78859774_79457008	79179532	G G	GATATAGA others(215): Show GATATAGATATATCTATATAGATATAGATATAGATATATCTATATAGATA TAGATATAGATATATCTATATAGATATAGATATAGATATATCTATATAGA TATAGATATAGATATATCTATATAGATATAGATATAGATATATCTATATA GATATAGATATAGATATATCTATATCGATATAGATATAGATATATCTATA TAGATATAGATATAGATATATCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0005 a0001c0003t0002g0005	1	62	0.0161	222	c.-17 others(241): Show c.-17-37960_-17-37959insTCTATATAGATATAGATATAGATATA TCTATATAGATATAGATATAGATATATCTATATAGATATAGATATAGATA TATCTATATAGATATAGATATAGATATATCTATATAGATATAGATATAGA TATATCTATATAGATATAGATATAGATATATCTATATCGATATAGATATA GATATATCTATATAGATATAGATATAGATATATCTATATAGATATA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
TAF4_chr20_61969798_62070881	62058033	C C	CGGGGGCC others(215): Show CGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCA GGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGG GGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACAC CAGGCCACAGACAGTGGGGCTCG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0279 a0001c0002t0001g0279	1	314	0.0032	222	c.136 others(241): Show c.1360+6417_1360+6418insCGAGCCCCACTGTCTGTGGCCTGGTG TGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCG AGCCCCATTGTCTGTGGCCTGGTGTGTAGGCCTGTGTCCGTCCTTCCTGA GGTCTTGCTGAGGTTGGCCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTG TAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TARBP1_chr1_234386313_234484179	234397808	A A	AAGAGGGG others(215): Show AAGAGGGGGAGAAGGGGAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGG GAGGGGGAAGGGGGAGGAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGG GGAAGGAGGGGGAAAGAGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGG GAGGGGGTAGAGGGAGGGGACGGGAGGAGGGAGGGGAGGGGGAAGAGGGG GAGGAGGTGGAGGGGAGGAGGGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	274	0.0037	222	c.424 others(239): Show c.4243+573_4243+574insCCCCTCCTCCCCTCCACCTCCTCCCCCT CTTCCCCCTCCCCTCCCTCCTCCCGTCCCCTCCCTCTACCCCCTCCCCTC CCTCCTCCCCTCCCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCCCCTCC CCCTTCTTCCCCTCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCCC TCCCCCTCTTCCCCCACCTCCTCCCCCTCCCCTTCTCCCCCTCT	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397808	A A	AGAGGGGG others(215): Show AGAGGGGGAGAAGGGGAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGG AGGGGGAAGGGGGAGGAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGG GAAGGAGGGGGAAAGAGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGG AGGGGGGTAGAGGGAGGGGACGGGAGGAGGGAGGGGAGGGGGAAGAGGGG GAGGAGGTGGAGGGGAGGAGGGG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp2 HG02738.hp1 others(1): Show HG01928.hp1 HG01928.hp2 HG02738.hp1 NA18956.hp1	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0011	a0002c0002 a0003c0012 a0006c0013 others(1): Show a0002c0002 a0003c0012 a0006c0013 a0011c0042	a0002c0002t0001 a0003c0012t0001 a0006c0013t0002 others(1): Show a0002c0002t0001 a0003c0012t0001 a0006c0013t0002 a0011c0042t0002	a0002c0002t0001g0142 a0003c0012t0001g0166 a0006c0013t0002g0259 others(1): Show a0002c0002t0001g0142 a0003c0012t0001g0166 a0006c0013t0002g0259 a0011c0042t0002g0257	4	274	0.0146	222	c.424 others(239): Show c.4243+573_4243+574insCCCCTCCTCCCCTCCACCTCCTCCCCCT CTTCCCCCTCCCCTCCCTCCTCCCGTCCCCTCCCTCTACCCCCCTCCCCT CCCTCCTCCCCTCCCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCCCCTC CCCCTTCTTCCCCTCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCC CTCCCCCTCTTCCCCCACCTCCTCCCCCTCCCCTTCTCCCCCTC	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397808	A A	AGAGGGGG others(215): Show AGAGGGGGAGAAGGGGAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGG AGGGGGAAGGGGGAGGAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGG GAAGGAGGGGGAAAGAGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGG AGGGGGTAGAGGGAGGGGACGGGAGGAGGGAGGGGAGGGGGAAGAGGGGG AGGAGGTGGAGGGGAGGAGGGGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0016 a0016	a0016c0035 a0016c0035	a0016c0035t0001 a0016c0035t0001	a0016c0035t0001g0143 a0016c0035t0001g0143	1	274	0.0037	222	c.424 others(239): Show c.4243+573_4243+574insCCCCCTCCTCCCCTCCACCTCCTCCCCC TCTTCCCCCTCCCCTCCCTCCTCCCGTCCCCTCCCTCTACCCCCTCCCCT CCCTCCTCCCCTCCCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCCCCTC CCCCTTCTTCCCCTCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCC CTCCCCCTCTTCCCCCACCTCCTCCCCCTCCCCTTCTCCCCCTC	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397808	A A	AGAGGGGG others(215): Show AGAGGGGGAGAAGGGGAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGG AGGGGGAAGGGGGAGGAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGG GAAGGAGGGGGAAAGAGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGG AGGGGGTAGAGGGAGGGGACGGGAGGAGGGAGGGGAGGGGGAAGAGGGGG GAGGAGGTGGAGGGGAGGAGGGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0001 a0001c0050t0001	a0001c0050t0001g0047 a0001c0050t0001g0047	1	274	0.0037	222	c.424 others(239): Show c.4243+573_4243+574insCCCCTCCTCCCCTCCACCTCCTCCCCCC TCTTCCCCCTCCCCTCCCTCCTCCCGTCCCCTCCCTCTACCCCCTCCCCT CCCTCCTCCCCTCCCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCCCCTC CCCCTTCTTCCCCTCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCC CTCCCCCTCTTCCCCCACCTCCTCCCCCTCCCCTTCTCCCCCTC	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397808	A A	AGAGGGGG others(215): Show AGAGGGGGAGAAGGGGAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGG AGGGGGAAGGGGGAGGAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGG GAAGGAGGGGGAAAGAGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGG AGGGGGTAGAGGGAGGGGACGGGAGGAGGGAGGGGAGGGGGGAAGAGGGG GAGGAGGTGGAGGGGAGGAGGGG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0160 a0007c0018t0001g0160	1	274	0.0037	222	c.424 others(239): Show c.4243+573_4243+574insCCCCTCCTCCCCTCCACCTCCTCCCCCT CTTCCCCCCTCCCCTCCCTCCTCCCGTCCCCTCCCTCTACCCCCTCCCCT CCCTCCTCCCCTCCCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCCCCTC CCCCTTCTTCCCCTCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCC CTCCCCCTCTTCCCCCACCTCCTCCCCCTCCCCTTCTCCCCCTC	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397808	A A	AGAGGGGG others(215): Show AGAGGGGGAGAAGGGGAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGG AGGGGGAAGGGGGAGGAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGGAGG GAAGGAGGGGGAAAGAGGGTGAAGAGGGAGGGGAAGGGGAGGAGGGAGGG GAGGGGGTAGAGGGAGGGGACGGGAGGAGGGAGGGGAGGGGGAAGAGGGG GAGGAGGTGGAGGGGAGGAGGGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0013 a0001c0006t0003g0013	1	274	0.0037	222	c.424 others(239): Show c.4243+573_4243+574insCCCCTCCTCCCCTCCACCTCCTCCCCCT CTTCCCCCTCCCCTCCCTCCTCCCGTCCCCTCCCTCTACCCCCTCCCCTC CCTCCTCCCCTTCCCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCCCTCC CCCCTTCTTCCCCTCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCC CTCCCCCTCTTCCCCCACCTCCTCCCCCTCCCCTTCTCCCCCTC	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397808	A A	AGAGGGGG others(215): Show AGAGGGGGAGAAGGGGAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGG AGGGGGAAGGGGGGAGGAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGG GGAAGGAGGGGGAAAGAGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGG GAGGGGGGTAGAGGGAGGGGACGGGAGGAGGGAGGGGAGGGGAAGAGGGG GAGGAGGTGGAGGGGAGGAGGGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	274	0.0037	222	c.424 others(239): Show c.4243+573_4243+574insCCCCTCCTCCCCTCCACCTCCTCCCCCT CTTCCCCTCCCCTCCCTCCTCCCGTCCCCTCCCTCTACCCCCCTCCCCTC CCTCCTCCCCTCCCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCCCCTCC CCCTTCTTCCCCTCTTCCCCCTCCCCCTCCTCCCCCCTTCCCCCTCCCCC CTCCCCCTCTTCCCCCACCTCCTCCCCCTCCCCTTCTCCCCCTC	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397808	A A	AGAGGGGG others(215): Show AGAGGGGGAGAAGGGGAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGG GAGGGGGAAGGGGGAGGAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGG GGAAGGAGGGGGAAAGAGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGG GAGGGGGTAGAGGGAGGGGACGGGAGGAGGGAGGGGAGGGGGAAGAGGGG GAGGAGGTGGAGGGGAGGAGGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0022 a0022	a0022c0046 a0022c0046	a0022c0046t0002 a0022c0046t0002	a0022c0046t0002g0261 a0022c0046t0002g0261	1	274	0.0037	222	c.424 others(239): Show c.4243+573_4243+574insCCCCTCCTCCCCTCCACCTCCTCCCCCT CTTCCCCCTCCCCTCCCTCCTCCCGTCCCCTCCCTCTACCCCCTCCCCTC CCTCCTCCCCTCCCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCCCCTCC CCCTTCTTCCCCTCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCCC CTCCCCCTCTTCCCCCACCTCCTCCCCCTCCCCTTCTCCCCCTC	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397808	A A	AGAGGGGG others(215): Show AGAGGGGGAGAAGGGGAGGGGGAGGAGGTGGGGGGAAGAGGGGGAGGGGG GAGGGGGAAGGGGGAGGAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGG GGAAGGAGGGGGAAAGAGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGG GAGGGGGTAGAGGGAGGGGACGGGAGGAGGGAGGGGAGGGGGAAGAGGGG GAGGAGGTGGAGGGGAGGAGGGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0134 a0002c0002t0001g0134	1	274	0.0037	222	c.424 others(239): Show c.4243+573_4243+574insCCCCTCCTCCCCTCCACCTCCTCCCCCT CTTCCCCCTCCCCTCCCTCCTCCCGTCCCCTCCCTCTACCCCCTCCCCTC CCTCCTCCCCTCCCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCCCCTCC CCCTTCTTCCCCTCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCCC TCCCCCTCTTCCCCCCACCTCCTCCCCCTCCCCTTCTCCCCCTC	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TBCD_chr17_82747065_82950914	82846319	C C	CCTGTGCC others(215): Show CCTGTGCCGTGTCCTCTCGTCCAGCCCTCTGCTGCCCCCTCCACGCGCTG CGTCCCCTGTGCCGTGTCCTCTCGTCCAGCCCTCTGCTGCCCCCTCCACG CGCTGCGTCCTCTGTGCCACGTCCCCTCGTCCAGCCCTCTGCTGCCCCCT CCACGCGCTGCGTCCTCTGTGCCACGTCCCCTCGTCCAGCCCTCTGCTGC CCCCTCCACGCGCTGTGTCCCAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0031 a0004c0005t0031	a0004c0005t0031g0115 a0004c0005t0031g0115	1	318	0.0031	222	c.131 others(243): Show c.1319-23905_1319-23904insCTGTGCCGTGTCCTCTCGTCCAGC CCTCTGCTGCCCCCTCCACGCGCTGCGTCCCCTGTGCCGTGTCCTCTCGT CCAGCCCTCTGCTGCCCCCTCCACGCGCTGCGTCCTCTGTGCCACGTCCC CTCGTCCAGCCCTCTGCTGCCCCCTCCACGCGCTGCGTCCTCTGTGCCAC GTCCCCTCGTCCAGCCCTCTGCTGCCCCCTCCACGCGCTGTGTCCCAT	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38			chr17	TogoVar
TBCE_chr1_235362427_235457443	235412193	C C	CCCTTCCC others(215): Show CCCTTCCCCCTCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTTCC CCCCTCCCCCCTCCCCCCCTCCCCTCCCCCCCTCCCCCTCCTCTCCCTTC CCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCATCCCCTCCTCTCCCCTC CCCCCTCCCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0132 a0001c0001t0007g0132	1	268	0.0037	222	c.186 others(239): Show c.186-2238_186-2237insTTCCCCCTCCCCTCCCCTCCCCTCCCCA TCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCTCCTCTCCCCTTCCCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCC CTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCC CATCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF12_chr15_56913644_57294853	57170722	T T	TATATATT others(215): Show TATATATTATATATAATATATATATTATATATTATATATATATATTATAT ATAATATATATATTATATATTATATATATATTATATATAATATATATATT ATATATTATATATATATTATATATAATATATTATATATATTATATATAAT ATATATTATATATTATATATATATTATATATAATATATATATAATATATA TTATATATTATATATATATTATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0326 a0001c0001t0011g0326	1	330	0.0030	222	c.390 others(239): Show c.390+4256_390+4257insATATATTATATATAATATATATATTATA TATTATATATATATATTATATATAATATATATATTATATATTATATATAT ATTATATATAATATATATATTATATATTATATATATATTATATATAATAT ATTATATATATTATATATAATATATATTATATATTATATATATATTATAT ATAATATATATATAATATATATTATATATTATATATATATTATA	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	6/20			chr15	TogoVar
TCN2_chr22_30602174_30632271	30623891	T T	TATATACA others(215): Show TATATACACATATATACACACATATATACACATATATACACACATATATA CACACACATATATACACACATATATATACACACATATACACATATATACA CACATATGTATACATATATACACACATATATGTATACATATATACACACA TATGTATACATATATATACACACATATATGTATACATATATACACACATA TATGTATACATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0064 a0005c0005t0002g0064	1	466	0.0022	222	c.122 others(239): Show c.1222+813_1222+814insCACATATATACACACATATATACACATA TATACACACATATATACACACACATATATACACACATATATATACACACA TATACACATATATACACACATATGTATACATATATACACACATATATGTA TACATATATACACACATATGTATACATATATATACACACATATATGTATA CATATATACACACATATATGTATACATATATATACACACATATA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1272635	C C	CAGTCACC others(215): Show CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACAT CAGACCCCTGTGACCAACCACCATCCACAGTCACCACATCAGACCCCACG ACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCATCCACAG TCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCCCATGACCAACCACCATCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	392	0.0026	222	c.228 others(239): Show c.2287-356_2287-355insAGATGGTGGTTGGTCATGGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGGTGACTGTGGATGGTGGTTGGTCACAGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273733	C C	CCACATCA others(215): Show CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCTGTGACCGATCACCATCCAGTCACCACACA TCAGACCCCACGACTGCCATCCACAGTCACCACACATCAGACCCCTGTGA CCGATCACCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	392	0.0026	222	c.228 others(241): Show c.2287-1454_2287-1453insTGGTGACTGTGGATGGTGATCGGTCA CAGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGT GTGGTGACTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273782	C C	CACGACTG others(215): Show CACGACTGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCAC CATCCACAGTCACCACACATCAGACCCCACGACTGCCATCCACAGTCACC ACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGA TCACCATCCACAGTCACCACACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02280.hp2 HG03130.hp1 others(3): Show HG00609.hp1 HG02280.hp2 HG03130.hp1 HG03831.hp2 HG03927.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 a0001c0001 a0001c0002 a0001c0014	a0001c0001t0001 a0001c0002t0001 a0001c0014t0001 a0001c0001t0001 a0001c0002t0001 a0001c0014t0001	a0001c0001t0001g0145 a0001c0001t0001g0215 a0001c0001t0001g0237 others(3): Show a0001c0001t0001g0145 a0001c0001t0001g0215 a0001c0001t0001g0237 a0001c0001t0001g0255 a0001c0002t0001g0052 a0001c0014t0001g0109	6	392	0.0153	222	c.228 others(241): Show c.2287-1503_2287-1502insTGTGTGGTGACTGTGGATGGTGATCG GTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGT GACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTG ATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TIMM22_chr17_992129_1008671	993432	A A	ATAATCCA others(215): Show ATAATCCACCCTCACATAATCCACCCCTCACATAATCCACCCACACTCAC ATAATCCACCTCACATAATCCACCCTCACATAATCCACCCTCACATAATC CACCTCACATAATCCACCCTCACATAATCCACCCACCCTCACATAATCCA CCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCTCACA TAATCCACCCTCACATAATCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA19066.hp2 NA18940.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0025 a0001c0001t0002g0013 a0001c0001t0002g0025	2	439	0.0046	222	c.-37 others(233): Show c.-3711_-3710insTAATCCACCCTCACATAATCCACCCCTCACATAA TCCACCCACACTCACATAATCCACCTCACATAATCCACCCTCACATAATC CACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCCA CCCTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCAC ATAATCCACCTCACATAATCCACCCTCACATAATCCAC	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3696		chr17	TogoVar
TIMM22_chr17_992129_1008671	993432	A A	ATAATCCA others(215): Show ATAATCCACCCTCACATAATCCACCCCTCACATAATCCACCTCACATAAT CCACCCACACTCACATAATCCACCTCACATAATCCACCCTCACATAATCC ACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCCAC CCTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACA TAATCCACCCTCACATAATCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA19066.hp1 NA18947.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0018 a0001c0001t0010g0018	2	439	0.0046	222	c.-37 others(233): Show c.-3711_-3710insTAATCCACCCTCACATAATCCACCCCTCACATAA TCCACCTCACATAATCCACCCACACTCACATAATCCACCTCACATAATCC ACCCTCACATAATCCACCCTCACATAATCCACCTCACATAATCCACCCTC ACATAATCCACCCACCCTCACATAATCCACCTCACATAATCCACCTCACA TAATCCACCCTCACATAATCCACCCTCACATAATCCAC	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3696		chr17	TogoVar
TIMM22_chr17_992129_1008671	993489	A A	ACCTCACA others(215): Show ACCTCACATAATCCACCCTCACATAATCCACCCTCACGTAATCCACCCTC ACGTAATCCACCTCACATAATCCACCCACCCTCACATAATCCACCTCACA TAATCCACCTCACATAATCCACCCTCACATAATCCACCTCACATAATCCA CCCTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCAC ATAATCCACCTCACATAATCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0112 a0001c0001t0013g0112	1	439	0.0023	222	c.-36 others(233): Show c.-3654_-3653insCCTCACATAATCCACCCTCACATAATCCACCCTC ACGTAATCCACCCTCACGTAATCCACCTCACATAATCCACCCACCCTCAC ATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACATAATCC ACCTCACATAATCCACCCTCACATAATCCACCTCACATAATCCACCTCAC ATAATCCACCCTCACATAATCCACCTCACATAATCCAC	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3639		chr17	TogoVar
TMEM120B_chr12_121707752_121787068	121747263	T T	TGGGAGGC others(215): Show TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAAAA GGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0248 a0001c0001t0003g0248	1	314	0.0032	222	c.189 others(239): Show c.189-1044_189-1043insTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAA AAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747310	C C	CTGGGGTA others(215): Show CTGGGGTAGAAGGTGGGAGGCTGGGGTAAAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGTAGA AGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGA GGCACTGGGGTAGAAGGTGGGAG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0046 a0001c0001t0067g0046	1	314	0.0032	222	c.189 others(239): Show c.189-1016_189-1015insTGGGGTAGAAGGTGGGAGGCTGGGGTAA AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747833	G G	GCACTGGG others(215): Show GCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTG GGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0052 a0001c0001t0010g0052	1	314	0.0032	222	c.189 others(237): Show c.189-492_189-491insACTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGG CGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAG GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128658067	T T	TCAAGGCA others(215): Show TCAAGGCAGGAGCAGGGACGCAGCTCCCATGGAGGCCTCAAGGCAGGAGC AGGGACGCAGCTCCCATGGAGGCCACAAGGCAGGAGCAGGGACGCAGCTC CCATGGAGGCCACAAGGCAGGAGCAGGGACGCAGCTCCCATGGAGGCCAC AAGGCAGGAGCAGGGACGCAGCTCCCATGGAGGCCACAAGGCAGGAGCAG GGACGCAGCTCCCATGGAGGCCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp1 HG03209.hp2 others(1): Show HG02630.hp2 HG02723.hp1 HG03209.hp2 HG03516.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0013	a0002c0037 a0003c0072 a0005c0032 others(1): Show a0002c0037 a0003c0072 a0005c0032 a0013c0062	a0002c0037t0002 a0003c0072t0007 a0005c0032t0002 others(1): Show a0002c0037t0002 a0003c0072t0007 a0005c0032t0002 a0013c0062t0002	a0002c0037t0002g0022 a0003c0072t0007g0118 a0005c0032t0002g0050 others(1): Show a0002c0037t0002g0022 a0003c0072t0007g0118 a0005c0032t0002g0050 a0013c0062t0002g0011	4	170	0.0235	222	c.130 others(243): Show c.1306-11314_1306-11313insTCAAGGCAGGAGCAGGGACGCAGC TCCCATGGAGGCCACAAGGCAGGAGCAGGGACGCAGCTCCCATGGAGGCC ACAAGGCAGGAGCAGGGACGCAGCTCCCATGGAGGCCACAAGGCAGGAGC AGGGACGCAGCTCCCATGGAGGCCACAAGGCAGGAGCAGGGACGCAGCTC CCATGGAGGCCACAAGGCAGGAGCAGGGACGCAGCTCCCATGGAGGCC	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM65_chr8_124301189_124377701	124302505	A A	ACATATAT others(215): Show ACATATATATTCTTTTATATATTTATATAAATATATATTCTTTTATATAT TTATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTC TTTTATATATTTATATATAAATATATATTCTTTTATTTATATATAAATAT ATATTCTTTTATATATTTATATATAAATATATATTCTTTTATTTATATAT AAATATATATTCTTTTATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	348	0.0029	222	c.11 others(235): Show c.11454_*11455insAATATATAAAAGAATATATATTTATATATAAA TAAAAGAATATATATTTATATATAAATATATAAAAGAATATATATTTATA TATAAATAAAAGAATATATATTTATATATAAATATATAAAAGAATATATA TTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATAAA AGAATATATATTTATATAAATATATAAAAGAATATATATG	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3683		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(215): Show TTATATATAAATATATATTTTTATATATTTATATATAAATATATATTCTT TTATATATTTATATATATATTTATATATAAATATATATTCTTTTATATAT TTATATATAAATATATATTCTTTTATATATTTATATATAAATATACTTTT ATATATTTATATATAAATATATATTCTTTTATATATTTATATATAAATAT ATATTCTTTTATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00609.hp2 others(39): Show HG00423.hp2 HG00558.hp1 HG00609.hp2 HG00673.hp1 HG00738.hp2 HG01069.hp1 HG01258.hp1 HG01433.hp2 HG01516.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02129.hp2 HG02602.hp1 HG02683.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04199.hp2 NA18939.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp2 NA18968.hp2 NA18971.hp1 NA18975.hp1 NA18983.hp1 NA18993.hp1 NA18995.hp2 NA18999.hp2 NA19054.hp1 NA19057.hp1 NA19065.hp2 NA19067.hp2 NA19077.hp1 NA19078.hp1 NA19082.hp1 NA19085.hp2 NA19090.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0027 others(1): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0027 a0001c0001t0032	a0001c0001t0002g0004 a0001c0001t0002g0167 a0001c0001t0002g0169 others(38): Show a0001c0001t0002g0004 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0016g0009 a0001c0001t0016g0332 a0001c0001t0016g0333 a0001c0001t0016g0334 a0001c0001t0027g0145 a0001c0001t0032g0182 a0001c0001t0032g0191	42	348	0.1207	222	c.11 others(235): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGTATA TTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATAAA AGAATATATATTTATATATAAATATATATATAAATATATAAAAGAATATA TATTTATATATAAATATATAAAAATATATATTTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TPO_chr2_1408463_1548673	1537060	C C	CCGCCCCA others(215): Show CCGCCCCAATCTGTGCAACCTCCCACTCTACCCCCCCACTGTGTGCAACC CCCCAAAATCCCCCCACTGTGTGCATCCTCCTCAAATCACTATTGTGTGA AACCTCCCCAAATCCCCCCCACTGTGTGCAACCTCCTCAAATCCCCCCAC TGTGTGCAACCACCCCAAACCCCCCACAGTTTGAAACCTCCCCAAATCCC TGCCACTGTGTGCAACTTCAATT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0008 a0004c0007t0008	a0004c0007t0008g0102 a0004c0007t0008g0102	1	130	0.0077	222	c.261 others(241): Show c.2619-3533_2619-3532insGCCCCAATCTGTGCAACCTCCCACTC TACCCCCCCACTGTGTGCAACCCCCCAAAATCCCCCCACTGTGTGCATCC TCCTCAAATCACTATTGTGTGAAACCTCCCCAAATCCCCCCCACTGTGTG CAACCTCCTCAAATCCCCCCACTGTGTGCAACCACCCCAAACCCCCCACA GTTTGAAACCTCCCCAAATCCCTGCCACTGTGTGCAACTTCAATTC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1537471	C C	CAAATCCC others(215): Show CAAATCCCAATGTGTGCCACCTCCCCAAATCCCCCCACTGTGTGCCACCT CCCCAAATCCCCCCACTGTAAGTAACCTCCTCAAATCTCCCTGCATTGTG CAACCTCCCCAAATCCCCCCACTGTGTGCAACCTCCCCAAATCCCCCCCA CTGTGTGCCACCTCAACATATCCCCCCACTGTGTGCAACCTTCCTAAATT CTTCCACTCTGTGCAACCTCCCG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01167.hp2 others(10): Show HG01069.hp2 HG01071.hp2 HG01167.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 NA19043.hp1 NA19043.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0002c0002 a0002c0015 others(4): Show a0001c0001 a0002c0002 a0002c0015 a0006c0026 a0008c0011 a0008c0016 a0008c0028	a0001c0001t0003 a0002c0002t0003 a0002c0015t0003 others(4): Show a0001c0001t0003 a0002c0002t0003 a0002c0015t0003 a0006c0026t0003 a0008c0011t0006 a0008c0016t0003 a0008c0028t0003	a0001c0001t0003g0077 a0001c0001t0003g0128 a0002c0002t0003g0056 others(10): Show a0001c0001t0003g0077 a0001c0001t0003g0128 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0060 a0002c0002t0003g0063 a0002c0015t0003g0111 a0006c0026t0003g0052 a0008c0011t0006g0048 a0008c0011t0006g0092 a0008c0016t0003g0020 a0008c0028t0003g0003	13	130	0.1000	222	c.261 others(241): Show c.2619-3119_2619-3118insCCCAATGTGTGCCACCTCCCCAAATC CCCCCACTGTGTGCCACCTCCCCAAATCCCCCCACTGTAAGTAACCTCCT CAAATCTCCCTGCATTGTGCAACCTCCCCAAATCCCCCCACTGTGTGCAA CCTCCCCAAATCCCCCCCACTGTGTGCCACCTCAACATATCCCCCCACTG TGTGCAACCTTCCTAAATTCTTCCACTCTGTGCAACCTCCCGAAAT	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPSD1_chr16_1251069_1264008	1255062	G G	GGGACTAG others(215): Show GGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGA GCTGGGCTGGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGG GTGAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGTCCATGGGAGCT GGGCTGGGGCTGGGACTAGTCCATGGGAGCTGGGCTGGGGCTGGACTAGT TCATGGGGAGCTGGGCTGGGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0001 a0011c0017t0001g0001	1	270	0.0037	222	c.-12 others(233): Show c.-1219_-1218insGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGG ACTAGTCCATGGGGAGCTGGGCTGGGGCTGGGACTAGTTCATGGGGAGCT GGGCTGGGGCTGGGGGTGAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGT GAGTCCATGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGAGCTGGGC TGGGGCTGGACTAGTTCATGGGGAGCTGGGCTGGGGCT	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding		1006		chr16	TogoVar
TRPC4AP_chr20_34997404_35097807	35097565	A A	ATGTGTGT others(215): Show ATGTGTGTGTATATACATATATACATATACACACATGTGTGTGTATATAC ATATACACACATGTGTGTGTATATACATATACACGCGTGTGTATATATAC ATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATAC ACGCGTGTGTATATACATATACACGCGTGCGTATATATACATATACACGC GTGCGTATATATACATATACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	334	0.0030	222	c.-47 others(233): Show c.-4785_-4784insCGTGTATATGTATATATACGCACGCGTGTATATG TATATATACGCACGCGTGTATATGTATATACACACGCGTGTATATGTATA TACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATATACA CACGCGTGTATATGTATATACACACACATGTGTGTATATGTATATACACA CACATGTGTGTATATGTATATATGTATATACACACACA	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4759		chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATAACAT others(215): Show TATAACATGATGATATGATACTATATCATCATATAACATGATGATATGAT ACTATATCATCATATAACATGATGATATGATACTATATCATCATATAACA TGATGATATGATACTATATCATCATATAACATGATGATATGATACTATAT CATCATATAACATGATGATATGATACTATATCATCATATAACATGATGAT ATGATACTATATCATCATATAAC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0121 a0001c0002t0002g0121	1	174	0.0058	222	c.41- others(239): Show c.41-49245_41-49244insAACATGATGATATGATACTATATCATCA TATAACATGATGATATGATACTATATCATCATATAACATGATGATATGAT ACTATATCATCATATAACATGATGATATGATACTATATCATCATATAACA TGATGATATGATACTATATCATCATATAACATGATGATATGATACTATAT CATCATATAACATGATGATATGATACTATATCATCATATAACAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TULP4_chr6_158307465_158516828	158331720	C C	CGTATATA others(215): Show CGTATATATACGTGTATATATACACGTATATATATATATATACGTGTATA TATACACGTATATATATATATATATACGTGTATATATACACGTATATATA TATATATATACGTGTATATATACACGTATATATATATATATATATACGTG TATATATACACGTATATATATATATATACGTGTATATATACACGTATATA TATATATATATATACGTGTATAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	268	0.0037	222	c.252 others(241): Show c.252+17452_252+17453insGTATATATACGTGTATATATACACGT ATATATATATATATACGTGTATATATACACGTATATATATATATATATAC GTGTATATATACACGTATATATATATATATATACGTGTATATATACACGT ATATATATATATATATATACGTGTATATATACACGTATATATATATATAT ACGTGTATATATACACGTATATATATATATATATATACGTGTATAT	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13			chr6	TogoVar
TXNDC16_chr14_52425596_52557505	52530565	A A	AATAATAT others(215): Show AATAATATAATATATATAATTATATATTATTATATATTATTATATATAAT TATATATATTATATATATTATATATTATTATATATAATATATATATAATT ATATATATATTATATATATTATTTATAATATATATAATATATATATAATT ATTTATAATATATATAATTATATATATTATATATAATAAATAATAATATA TAATTATATATATTATATATAAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0170 a0002c0003t0003g0170	1	238	0.0042	222	c.392 others(239): Show c.392+6153_392+6154insATTATATATAATATATATAATTATATAT TATTATTTATTATATATAATATATATAATTATATATATTATAAATAATTA TATATATATTATATATATTATAAATAATATATATAATATATATATAATTA TATATATATTATATATAATAATATATAATATATATAATATATATAATTAT ATATAATAATATATAATAATATATAATTATATATATTATATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(215): Show TATATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	320	0.0031	222	c.-38 others(233): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACACATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355870	T T	TATACACA others(215): Show TATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACACA TATATGTGTGTGTATACGCATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01515.hp1 HG00099.hp2 HG00280.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0140 a0001c0001t0001g0152 a0001c0001t0001g0006 a0001c0001t0001g0140 a0001c0001t0001g0152	3	320	0.0094	222	c.-38 others(233): Show c.-3846_-3845insATACACAAGTGTGTATATACGTATATACACAAGT GTGTATATACGCATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTAT ACGCATACACACACATATATGTGTGTGTATACGCATAC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3729		chr11	TogoVar
UCN3_chr10_5359966_5379692	5369997	G G	GTATGTGT others(215): Show GTATGTGTGTGTATATGTGTGTGTGTATGTGTGTATATGCGTGTGTATAT GCGTGTGTATATGCGTGTGTATATGCGTGTATATGTGTGTGTATATGTGT GTGTGTGTATATGTGCGTGTATGTGTGCGTGTGTATATGTGCGTGTATGT GTGTGTGTATATGTGTGTGTATATGTGTGTGTATATGTGTGTGTGTGTAT GTGTGTGTATGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0223 a0001c0001t0006g0223	1	468	0.0021	222	c.-6- others(237): Show c.-6-3717_-6-3716insATGTGTGTGTATATGTGTGTGTGTATGTGT GTATATGCGTGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTAT ATGTGTGTGTATATGTGTGTGTGTGTATATGTGCGTGTATGTGTGCGTGT GTATATGTGCGTGTATGTGTGTGTGTATATGTGTGTGTATATGTGTGTGT ATATGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370811	G G	GTATATGC others(215): Show GTATATGCGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATGT GTGTGTGTATGCGTGTGTATATGCGTGTGTATATGTGTGTGTATATGTGT GTGTATGTGTGTGTGTATATGCGTGTGTATATGTGTGTGTATGTGTGTGT GTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTATATGCGTGTGTAT ATGTGTGTGTATATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0390 a0002c0002t0005g0390	1	468	0.0021	222	c.-6- others(237): Show c.-6-2903_-6-2902insATATGCGTGTGTATATGTGTGTGTATGTGT GTGTATGTGTGTGTATGTGTGTGTGTATGCGTGTGTATATGCGTGTGTAT ATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATAT GTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGT GTGTATATGCGTGTGTATATGTGTGTGTATATGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
ULK1_chr12_131889622_131928150	131917102	G G	GTCGGAGG others(215): Show GTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTGG GGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGA GGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCT GTGGGATGGGGGTCGGGTGGGGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	344	0.0029	222	c.218 others(237): Show c.2182+60_2182+61insCTCGAGGCTGTGGGACGGGGGTCGGGTGGG GCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAG GCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTG TGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917190	G G	GGGGAGCT others(215): Show GGGGAGCTCGGAGGCTGTGGGATGGGGGTCGGGGGGAGCTCGGAGGCTGT GGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGC TGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGAT GGGGCTCGGAGGCTGTGGGACAGGGGTCGGGGGGAGCTCGGAGGCTGTGG GATGGGGGTCGGAGGCTGTGGGA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	2	344	0.0058	222	c.218 others(239): Show c.2182+128_2182+129insGGGAGCTCGGAGGCTGTGGGATGGGGGT CGGGGGGAGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGG GGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGAT GGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACAGGGGTCG GGGGGAGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
VPS8_chr3_184807166_185057604	184895600	C C	CCCCCCCT others(215): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0273 a0002c0002t0001g0273	1	274	0.0037	222	c.200 others(239): Show c.2004+709_2004+710insTCCTCCTCCCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar

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