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
CRTC3_chr15_90524923_90650345	90647419	T T	TCACACAC others(88): Show TCACACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATCCCTTCCCC CTCCTCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTCCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01123.hp2 HG01167.hp2 others(32): Show HG00438.hp2 HG01123.hp2 HG01167.hp2 HG01192.hp1 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02056.hp1 HG02300.hp2 HG06807.hp1 NA18939.hp1 NA18945.hp2 NA18949.hp2 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18966.hp1 NA18970.hp2 NA18981.hp1 NA18989.hp1 NA18993.hp2 NA19010.hp2 NA19011.hp2 NA19077.hp1 NA19079.hp2 NA19083.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005	a0001c0001t0002 a0001c0001t0023 a0001c0001t0024 others(3): Show a0001c0001t0002 a0001c0001t0023 a0001c0001t0024 a0002c0002t0002 a0003c0003t0002 a0004c0005t0026	a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0151 others(32): Show a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0002g0230 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0273 a0001c0001t0023g0147 a0001c0001t0024g0154 a0002c0002t0002g0065 a0002c0002t0002g0073 a0002c0002t0002g0079 a0002c0002t0002g0099 a0002c0002t0002g0103 a0002c0002t0002g0110 a0003c0003t0002g0162 a0003c0003t0002g0242 a0004c0005t0026g0088	35	276	0.1268	95	c.52 others(106): Show c.5279_*5280insCACACACCTCCTCAACCTTCACATCCCTCCCCCT CCACATCCCTTCCCCCTCCTCACCCCTCTCCCCTCATCACCTCTCCTCCT CCTCCACACCC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2075		chr15	TogoVar
CRY1_chr12_106986364_107098549	107026134	C C	CATATATA others(88): Show CATATATATTACATATATAACATATATAACATATGTTATATATGTTATAT ATGTAATATATATTATATATATATTACATATATATATAAAATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02572.hp2 others(1): Show HG01168.hp1 HG01169.hp2 HG02572.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 others(1): Show a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167	4	320	0.0125	95	c.159 others(112): Show c.159-3943_159-3942insATATATTTTATATATATATGTAATATAT ATATAATATATATTACATATATAACATATATAACATATGTTATATATGTT ATATATGTAATATATAT	CRY1	ENSG00000008405.12	transcript	ENST00000008527.10	protein_coding	1/12			chr12	TogoVar
CRY1_chr12_106986364_107098549	107026147	T T	TATATAAC others(88): Show TATATAACATATATAACATATATATGTTATATATGTTATATATGTAATAT ATATTATATATATATTACATATATATAAAATATATATATATATTAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18522.hp1 HG01884.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0169 a0001c0001t0008g0170 a0001c0001t0008g0169 a0001c0001t0008g0170	2	320	0.0063	95	c.159 others(112): Show c.159-3956_159-3955insGTAATATATATATATATTTTATATATAT GTAATATATATATAATATATATTACATATATAACATATATAACATATATA TGTTATATATGTTATAT	CRY1	ENSG00000008405.12	transcript	ENST00000008527.10	protein_coding	1/12			chr12	TogoVar
CRYL1_chr13_20398669_20530857	20455445	T T	TTGGAAAA others(88): Show TTGGAAAACTCAAGCTATACCATAATCATGAATTGGAAAACTCAAGCTAC ATCATAATCATGAATTGGAAAACTCAAGCTATACCATAATCATGAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0248 a0001c0003t0003g0248	1	250	0.0040	95	c.277 others(114): Show c.277-15692_277-15691insTTCATGATTATGGTATAGCTTGAGTT TTCCAATTCATGATTATGATGTAGCTTGAGTTTTCCAATTCATGATTATG GTATAGCTTGAGTTTTCCA	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	3/7			chr13	TogoVar
CRYL1_chr13_20398669_20530857	20497481	C C	CACACACA others(88): Show CACACACAACTACACACACACCACCATACACACAACTACACACACCACAT ATACACACTACACACACCACCATACACACTACACACACACCACAAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19240.hp2 HG02630.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0083 a0001c0002t0002g0073 a0001c0002t0001g0083 a0001c0002t0002g0073	2	250	0.0080	95	c.150 others(112): Show c.150-7986_150-7985insATTGTGGTGTGTGTGTAGTGTGTATGGT GGTGTGTGTAGTGTGTATATGTGGTGTGTGTAGTTGTGTGTATGGTGGTG TGTGTGTAGTTGTGTGT	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	2/7			chr13	TogoVar
CRYL1_chr13_20398669_20530857	20497481	C C	CACACACA others(88): Show CACACACAACTACACACACACCACCATACACACAACTACACACACCGCAT ATACACACCACACACACCACCATACACACTACACACACACCACAAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG01243.hp1 others(34): Show HG00639.hp1 HG01074.hp2 HG01243.hp1 HG01243.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02809.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0120 others(34): Show a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0120 a0001c0001t0001g0133 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0002g0021 a0001c0001t0002g0069 a0001c0001t0002g0096 a0001c0001t0002g0217 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0002t0001g0002 a0001c0002t0001g0082 a0001c0002t0001g0088 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0114 a0001c0002t0001g0135 a0001c0002t0001g0169 a0001c0002t0001g0210 a0001c0002t0001g0222 a0001c0002t0001g0239 a0001c0002t0001g0245 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0098 a0001c0002t0002g0122 a0001c0002t0002g0231 a0001c0003t0001g0023 a0001c0003t0001g0024	37	250	0.1480	95	c.150 others(112): Show c.150-7986_150-7985insATTGTGGTGTGTGTGTAGTGTGTATGGT GGTGTGTGTGGTGTGTATATGCGGTGTGTGTAGTTGTGTGTATGGTGGTG TGTGTGTAGTTGTGTGT	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	2/7			chr13	TogoVar
CRYL1_chr13_20398669_20530857	20497496	A A	ACACACCA others(88): Show ACACACCACCATACACACAACTACACACACCGCATATACACACCACACAC ACCACCATACACACTACACACACACCACAATACACACAACTACACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00544.hp2 others(75): Show HG00099.hp1 HG00140.hp2 HG00544.hp2 HG00642.hp2 HG01070.hp1 HG01074.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01884.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03540.hp2 HG03704.hp2 HG03927.hp1 HG06807.hp2 NA18522.hp2 NA18943.hp1 NA18945.hp2 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18977.hp2 NA18981.hp1 NA18983.hp2 NA18995.hp1 NA18998.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19062.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0006t0001 a0002c0007t0001	a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 others(75): Show a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0002g0034 a0001c0001t0002g0070 a0001c0001t0002g0094 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0167 a0001c0001t0002g0184 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0244 a0001c0001t0005g0246 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0146 a0001c0002t0002g0230 a0001c0003t0001g0012 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0002g0003 a0001c0003t0002g0013 a0001c0003t0002g0014 a0001c0003t0002g0015 a0001c0003t0003g0247 a0001c0003t0003g0248 a0001c0003t0003g0249 a0001c0004t0001g0016 a0001c0006t0001g0080 a0002c0007t0001g0150	78	250	0.3120	95	c.150 others(112): Show c.150-8001_150-8000insGGTGTAGTTGTGTGTATTGTGGTGTGTG TGTAGTGTGTATGGTGGTGTGTGTGGTGTGTATATGCGGTGTGTGTAGTT GTGTGTATGGTGGTGTG	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	2/7			chr13	TogoVar
CSF2RA_chrX_1263814_1314935	1314261	C C	CACACAGC others(88): Show CACACAGCATCTGCCCAACCACTCTGTGCCTGCCCAACCACACTGCACCT GCCTAACCGTACTGCACCTGCCCAACCGCACTGCACTTGCCCAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	159	0.0063	95	c.47 others(106): Show c.4782_*4783insACACAGCATCTGCCCAACCACTCTGTGCCTGCCC AACCACACTGCACCTGCCTAACCGTACTGCACCTGCCCAACCGCACTGCA CTTGCCCAATT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4327		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314319	A A	ACACTGCA others(88): Show ACACTGCACCTGCCCAACCACACAGCATCTGCCCAACCACTCTGTGCCTG CCCAACCACACTGCACCTGCCTAACCGCACTGCACCTGCCCAACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02622.hp1 HG01433.hp1 HG02622.hp1	a0005 a0007 a0005 a0007	a0005c0008 a0007c0017 a0005c0008 a0007c0017	a0005c0008t0001 a0007c0017t0001 a0005c0008t0001 a0007c0017t0001	a0005c0008t0001g0138 a0007c0017t0001g0143 a0005c0008t0001g0138 a0007c0017t0001g0143	2	159	0.0126	95	c.48 others(106): Show c.4840_*4841insCACTGCACCTGCCCAACCACACAGCATCTGCCCA ACCACTCTGTGCCTGCCCAACCACACTGCACCTGCCTAACCGCACTGCAC CTGCCCAACCG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4385		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314585	C C	CCACTGCA others(88): Show CCACTGCATCTGCCCAACCACTCTGTGCCTGCCCAACCACACTGCACCTG CCTAACCGTACTGCACCTGCCCAACCGCACTGCACTTGCCCAATTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0106 a0001c0007t0001g0106	1	159	0.0063	95	c.51 others(106): Show c.5106_*5107insCACTGCATCTGCCCAACCACTCTGTGCCTGCCCA ACCACACTGCACCTGCCTAACCGTACTGCACCTGCCCAACCGCACTGCAC TTGCCCAATTG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4651		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314691	G G	GCCCAACC others(88): Show GCCCAACCACACTGCACCTGCCTAACCGTACTGCACCTGCCCAACCGCAC TGCACTTGCCCAATTGCACTGCACCTGCCCAACCCCAATGCACCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	159	0.0063	95	c.52 others(106): Show c.5212_*5213insCCCAACCACACTGCACCTGCCTAACCGTACTGCA CCTGCCCAACCGCACTGCACTTGCCCAATTGCACTGCACCTGCCCAACCC CAATGCACCTA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4757		chrX	TogoVar
CSMD2_chr1_33508998_34170230	34102674	G G	GCCATATC others(88): Show GCCATATCCCTGTAATCCGGCCATATCCCTGTAATCCGGCCATATCCCTG TGATCCAGCCATATCCCTGTAATCCGGCCATATCCCTGTGATCCAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01978.hp2 HG02055.hp2 others(2): Show HG00438.hp1 HG01978.hp2 HG02055.hp2 HG02080.hp2 NA19043.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0014	a0001c0047 a0003c0003 a0005c0012 others(2): Show a0001c0047 a0003c0003 a0005c0012 a0006c0016 a0014c0054	a0001c0047t0001 a0003c0003t0005 a0005c0012t0001 others(2): Show a0001c0047t0001 a0003c0003t0005 a0005c0012t0001 a0006c0016t0004 a0014c0054t0008	a0001c0047t0001g0031 a0003c0003t0005g0029 a0005c0012t0001g0003 others(2): Show a0001c0047t0001g0031 a0003c0003t0005g0029 a0005c0012t0001g0003 a0006c0016t0004g0034 a0014c0054t0008g0030	5	66	0.0758	95	c.188 others(114): Show c.188-13482_188-13481insTTGGATCACAGGGATATGGCCGGATT ACAGGGATATGGCTGGATCACAGGGATATGGCCGGATTACAGGGATATGG CCGGATTACAGGGATATGG	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	1/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34102674	G G	GCCATATC others(88): Show GCCATATCCCTGTAATCTGGCCATATCCCTGTAATCCGGCCATATCCCTG TGATCCAGCCATATCCCTGTAATCCGGCCATATCCCTGTGATCCAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03471.hp1 HG02965.hp2 HG03471.hp1	a0001 a0006 a0001 a0006	a0001c0045 a0006c0013 a0001c0045 a0006c0013	a0001c0045t0013 a0006c0013t0003 a0001c0045t0013 a0006c0013t0003	a0001c0045t0013g0027 a0006c0013t0003g0058 a0001c0045t0013g0027 a0006c0013t0003g0058	2	66	0.0303	95	c.188 others(114): Show c.188-13482_188-13481insTTGGATCACAGGGATATGGCCGGATT ACAGGGATATGGCTGGATCACAGGGATATGGCCGGATTACAGGGATATGG CCAGATTACAGGGATATGG	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	1/70			chr1	TogoVar
CST8_chr20_23486117_23501010	23490057	A A	ATATATAT others(88): Show ATATATATATAAATTATATATATATAAAATATATATATAAATTATATATA TATAAAATATATATATAAATTATATATATATTAATTATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG02738.hp2 HG01346.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	440	0.0046	95	c.-14 others(106): Show c.-1429_-1428insTATATATATAAATTATATATATATAAAATATATA TATAAATTATATATATATAAAATATATATATAAATTATATATATATTAAT TATATATATAT	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		1059		chr20	TogoVar
CT45A1_chrX_135708639_135728228	135723962	C C	CATATATA others(88): Show CATATATATATGGTATATATACCATATATATATGGTATATATACCATATA TATATGGTATATATACCATATATGGTATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	57	0.0175	95	c.92 others(104): Show c.929_*930insATATATATATGGTATATATACCATATATATATGGTA TATATACCATATATATATGGTATATATACCATATATGGTATATATATATA TATATATAT	CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding		735		chrX	TogoVar
CTSD_chr11_1747755_1768927	1754533	A A	AGGGATGG others(88): Show AGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGAGATGGAGGGTCAT GAAGAGTCACAGAGGGATGAGGGGATGGAGGGATGGAGGGATGGAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0162 a0001c0001t0004g0162	1	386	0.0026	95	c.827 others(110): Show c.827+372_827+373insCTCCATCCCTCCATCCCTCCATCCCCTCAT CCCTCTGTGACTCTTCATGACCCTCCATCTCCTCCATCCCTCCATCCCCT CCATCCCTCCATCCC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATAGATTA others(88): Show ATAGATTATATATTATATGTATATTATGTATACATAATAGATTATATATT ATATGTATATTATGTATACATAATAGATTATATATTATATGTATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02027.hp1 HG02738.hp2 HG00408.hp1 HG02027.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0155 a0001c0001t0001g0202 a0001c0001t0001g0126 a0001c0001t0001g0155 a0001c0001t0001g0202	3	344	0.0087	95	c.896 others(112): Show c.896+3642_896+3643insATATACATATAATATATAATCTATTATG TATACATAATATACATATAATATATAATCTATTATGTATACATAATATAC ATATAATATATAATCTA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATAGATTA others(88): Show ATAGATTATATATTATATGTATATTATGTATACATAATAGATTATATATT ATATGTATATTATGTATACATAATATATTATATATTATATGTATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00738.hp1 others(6): Show HG00099.hp2 HG00597.hp1 HG00738.hp1 HG01167.hp2 HG01192.hp2 HG01515.hp1 HG01517.hp1 HG02083.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0009 a0001c0001t0001g0123 a0001c0001t0001g0124 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0162 a0001c0001t0001g0199 a0001c0001t0008g0103	9	344	0.0262	95	c.896 others(112): Show c.896+3642_896+3643insATATACATATAATATATAATATATTATG TATACATAATATACATATAATATATAATCTATTATGTATACATAATATAC ATATAATATATAATCTA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATAGATTA others(88): Show ATAGATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATATTATATATTATATGTATAT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	344	0.0029	95	c.896 others(112): Show c.896+3642_896+3643insATATACATATAATATATAATATATTATG TATACATAATATACATATAATATATAATATATTATGTATACATAATATAC ATATAATATATAATCTA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(88): Show ATATATTATATATTATATGTATATTATGTATACATAATAGATTATATATT ATATGTATATTATGTATACATAATAGATTATATATTATATGTATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	344	0.0029	95	c.896 others(112): Show c.896+3642_896+3643insATATACATATAATATATAATCTATTATG TATACATAATATACATATAATATATAATCTATTATGTATACATAATATAC ATATAATATATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(88): Show ATATATTATATATTATATGTATATTATGTATACATAATAGATTATATATT ATATGTATATTATGTATACATAATATATTATATATTATATGTATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00741.hp1 others(5): Show HG00280.hp2 HG00438.hp1 HG00741.hp1 HG01261.hp1 HG01934.hp2 HG02523.hp1 NA18747.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 others(5): Show a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0186 a0001c0001t0001g0200	8	344	0.0233	95	c.896 others(112): Show c.896+3642_896+3643insATATACATATAATATATAATATATTATG TATACATAATATACATATAATATATAATCTATTATGTATACATAATATAC ATATAATATATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(88): Show ATATATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATATTATATATTATATGTATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02258.hp2 HG02698.hp2 others(3): Show HG01074.hp1 HG02258.hp2 HG02698.hp2 NA18977.hp2 NA19058.hp2 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0177 a0001c0001t0001g0178 a0002c0002t0002g0006 others(1): Show a0001c0001t0001g0177 a0001c0001t0001g0178 a0002c0002t0002g0006 a0002c0002t0002g0047	6	344	0.0174	95	c.896 others(112): Show c.896+3642_896+3643insATATACATATAATATATAATATATTATG TATACATAATATACATATAATATATAATATATTATGTATACATAATATAC ATATAATATATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CUX2_chr12_111029165_111355554	111257470	T T	TTCTTCCT others(88): Show TTCTTCCTCCCCCTCCCACTTCTTCCTCCCCCTCCCACTTCTTCCTCCTC CTCCCACTTCTTCCTCCCCCTCCCACTTCTTCCTCCCCCTCCCACC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	100	0.0100	95	c.223 others(112): Show c.223-6256_223-6255insACTTCTTCCTCCTCCTCCCACTTCTTCC TCCCCCTCCCACTTCTTCCTCCCCCTCCCACCTCTTCCTCCCCCTCCCAC TTCTTCCTCCCCCTCCC	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CYP1A1_chr15_74714542_74730528	74714561	G G	GTATATAT others(88): Show GTATATATTATATATATTATATATGTGTATATATTATATATGTGTATATA TTATATATGTGTATATATAATATATATTATATATGTGTATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	434	0.0023	95	c.59 others(106): Show c.5927_*5928insTTATATATACACATATATAATATATATTATATAT ACACATATATAATATATACACATATATAATATATACACATATATAATATA TATAATATATA	CYP1A1	ENSG00000140465.15	transcript	ENST00000379727.8	protein_coding		4980		chr15	TogoVar
CYP1A1_chr15_74714542_74730528	74714561	G G	GTATATAT others(88): Show GTATATATTATATATGTGTATATATTATATATGTGTATATATAATATATA TTATATATGTGTATATATAATATATATTATATATGTGTATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02818.hp2 HG02145.hp2 HG02818.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0003 a0009c0009t0003 a0001c0001t0003 a0009c0009t0003	a0001c0001t0003g0010 a0009c0009t0003g0033 a0001c0001t0003g0010 a0009c0009t0003g0033	2	434	0.0046	95	c.59 others(106): Show c.5927_*5928insTTATATATACACATATATAATATATATTATATAT ACACATATATAATATATATTATATATACACATATATAATATATACACATA TATAATATATA	CYP1A1	ENSG00000140465.15	transcript	ENST00000379727.8	protein_coding		4980		chr15	TogoVar
CYSLTR1_chrX_78266468_78332611	78269442	T T	TTATATAT others(88): Show TTATATATAATATATATAAATATGGAACATATATTATATATTATATATAA TATAGAATATATATTATATATAATATATATAAATATGGAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0006 a0004c0007t0006	a0004c0007t0006g0123 a0004c0007t0006g0123	1	240	0.0042	95	c.32 others(106): Show c.3290_*3291insTATATATTCCATATTTATATATATTATATATAAT ATATATTCTATATTATATATAATATATAATATATGTTCCATATTTATATA TATTATATATA	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2025		chrX	TogoVar
D2HGDH_chr2_241729630_241773811	241766058	G G	GGGAGATG others(88): Show GGGAGATGGGAGCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGG GGAGATGGGAGCCCGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0010 a0004c0005t0010	a0004c0005t0010g0040 a0004c0005t0010g0040	1	412	0.0024	95	c.130 others(114): Show c.1307-1650_1307-1649insAGATGGGAGCCCGGGCTGAGGGAGTA GGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCGGCTGAGGGAGTAGG AAGAGGGGGGAGAAGTTGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24359355	A A	ATATATAT others(88): Show ATATATATATTATATATATTTTATATATTATATATTATATATATTTTATA TATTATATATTATATATATTTTATATATTATATATTATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG03130.hp1 others(1): Show HG02572.hp2 HG02647.hp2 HG03130.hp1 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0004 a0003c0003 a0002c0002 a0002c0004 a0003c0003	a0002c0002t0001 a0002c0002t0004 a0002c0004t0004 others(1): Show a0002c0002t0001 a0002c0002t0004 a0002c0004t0004 a0003c0003t0002	a0002c0002t0001g0093 a0002c0002t0004g0077 a0002c0004t0004g0092 others(1): Show a0002c0002t0001g0093 a0002c0002t0004g0077 a0002c0004t0004g0092 a0003c0003t0002g0095	4	216	0.0185	95	c.-16 others(106): Show c.-1606_-1605insAAATATATATAATATATAATATATAAAATATATA TAATATATAATATATAAAATATATATAATATATAATATATAAAATATATA TAATATATATA	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding		1297		chr6	TogoVar
DCLK1_chr13_35763652_36136382	35826539	A A	AAGGAAGG others(88): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	230	0.0044	95	c.140 others(114): Show c.1407+1095_1407+1096insCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	10/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35826539	A A	AAGGAAGG others(88): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0022	1	230	0.0044	95	c.140 others(114): Show c.1407+1095_1407+1096insCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	10/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35826539	A A	AAGGAAGG others(88): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0023 a0001c0008t0010g0023	1	230	0.0044	95	c.140 others(114): Show c.1407+1095_1407+1096insCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	10/16			chr13	TogoVar
DEAF1_chr11_639233_700222	690256	G G	GAGGGGAG others(88): Show GAGGGGAGGGCAGGAGAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGGG GAAGGCAGGGCAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02109.hp2 HG02717.hp1 others(3): Show HG01346.hp1 HG02109.hp2 HG02717.hp1 HG02895.hp2 HG03041.hp2 HG03540.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0010 a0001c0002 a0005c0010	a0001c0002t0001 a0005c0010t0001 a0001c0002t0001 a0005c0010t0001	a0001c0002t0001g0204 a0001c0002t0001g0237 a0001c0002t0001g0238 others(3): Show a0001c0002t0001g0204 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0257 a0005c0010t0001g0236	6	345	0.0174	95	c.387 others(112): Show c.387+1244_387+1245insGCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTGCCCTGCCTTCCCCTCCCCTCCCCTGCCCTCCCCTGCCCTCCC CTCTCCTGCCCTCCCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690266	C C	CAGGAGAG others(88): Show CAGGAGAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGGGGAAGGCAGGG CAGGGGAGGGGAGGGGAGGGGAGGGCAGGGGAGGGCAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03540.hp1 HG02698.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0251 a0001c0002t0001g0252	2	345	0.0058	95	c.387 others(112): Show c.387+1234_387+1235insCCCCTCCCCTGCCCTCCCCTGCCCTCCC CTCCCCTCCCCTCCCCTGCCCTGCCTTCCCCTCCCCTCCCCTGCCCTCCC CTGCCCTCCCCTCTCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690266	C C	CAGGAGAG others(88): Show CAGGAGAGGGGAGGGGAGGGCAGGGCAGGGGAGGGCAGGGGAGGGGAGGG CAGGGCAGGGGAGGGGAGGGGAGGGGAGGGGAGGGCAGGGCAGGGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0031 a0001c0001t0006g0031	1	345	0.0029	95	c.387 others(112): Show c.387+1234_387+1235insCCCCTGCCCTGCCCTCCCCTCCCCTCCC CTCCCCTCCCCTGCCCTGCCCTCCCCTCCCCTGCCCTCCCCTGCCCTGCC CTCCCCTCCCCTCTCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690326	C C	CAGGGCAG others(88): Show CAGGGCAGGGGAGGGGAGGGGAGGGGAGGGGAGGGCAGGGGAGGGGAGGG GAGGGCAGGGCAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGGAG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18963.hp1 NA18964.hp2 others(5): Show NA18612.hp2 NA18963.hp1 NA18964.hp2 NA18969.hp2 NA18993.hp2 NA19054.hp1 NA19066.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 others(5): Show a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321	8	345	0.0232	95	c.387 others(112): Show c.387+1174_387+1175insCTCCTCCCCTCCCCTGCCCTCCCCTGCC CTCCCCTGCCCTGCCCTCCCCTCCCCTCCCCTGCCCTCCCCTCCCCTCCC CTCCCCTCCCCTGCCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690331	G G	GAGGGGAG others(88): Show GAGGGGAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGGGCAGGGGAGGG CAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGGGCAGGGGAGGGC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0230 a0001c0002t0001g0230	1	345	0.0029	95	c.387 others(112): Show c.387+1169_387+1170insGCCCTCCCCTGCCCTCCCCTCCCCTGCC CTCCCCTGCCCTCCCCTGCCCTCCCCTGCCCTCCCCTCCCCTGCCCTCCC CTGCCCTCCCCTCCCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(88): Show CGGGGGGGCGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCAGGGG GGGGCCACGAGGACAGGGCGGGGGGGGGGGCGGCGAGGACAGGGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(34): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01169.hp1 HG01169.hp2 HG01496.hp1 HG01952.hp2 HG02015.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02559.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp1 HG03490.hp1 HG03834.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18944.hp1 NA18960.hp1 NA18962.hp2 NA18970.hp2 NA19010.hp1 NA19056.hp2 NA19064.hp2 NA19079.hp1 NA19081.hp1 NA20300.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0008 a0012	a0001c0001 a0001c0009 a0001c0011 others(6): Show a0001c0001 a0001c0009 a0001c0011 a0002c0015 a0004c0013 a0004c0023 a0006c0031 a0008c0024 a0012c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0030 a0001c0001t0045 a0001c0009t0002 a0001c0011t0002 a0002c0015t0001 a0004c0013t0003 a0004c0023t0002 a0006c0031t0003 a0008c0024t0008 a0012c0025t0002	a0001c0001t0001g0042 a0001c0001t0001g0120 a0001c0001t0002g0001 others(32): Show a0001c0001t0001g0042 a0001c0001t0001g0120 a0001c0001t0002g0001 a0001c0001t0002g0025 a0001c0001t0002g0076 a0001c0001t0002g0097 a0001c0001t0002g0109 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0002g0142 a0001c0001t0003g0002 a0001c0001t0003g0027 a0001c0001t0003g0068 a0001c0001t0003g0077 a0001c0001t0003g0084 a0001c0001t0003g0125 a0001c0001t0003g0130 a0001c0001t0003g0324 a0001c0001t0008g0152 a0001c0001t0008g0156 a0001c0001t0011g0111 a0001c0001t0017g0085 a0001c0001t0030g0079 a0001c0001t0045g0135 a0001c0009t0002g0061 a0001c0009t0002g0132 a0001c0009t0002g0133 a0001c0011t0002g0078 a0002c0015t0001g0049 a0002c0015t0001g0090 a0004c0013t0003g0099 a0004c0023t0002g0039 a0006c0031t0003g0121 a0008c0024t0008g0150 a0012c0025t0002g0052	37	326	0.1135	95	c.453 others(110): Show c.453+356_453+357insCACCCTGTCCTCGCCGCCCCCCCCCCCGCC CTGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCGCCCTGT CCTCGCCGCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(88): Show CGGGGGGGCGGCGAGGACAGGGCGGGGGGGGCGGCGAGGACAGGGCAGGG GGGGGCCACGAGGACAGGGCGGGGGGGGGGCGGCGAGGACAGGGTG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	326	0.0031	95	c.453 others(110): Show c.453+356_453+357insCACCCTGTCCTCGCCGCCCCCCCCCCGCCC TGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCCGCCCTGT CCTCGCCGCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(88): Show CGGGGGGGGGGGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCGGG GGGGCGGCGAGGACAGGGCAGGGGGGGGCCACGAGGACAGGGTGGG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0245 a0002c0008t0001g0245	1	326	0.0031	95	c.453 others(110): Show c.453+356_453+357insCCCACCCTGTCCTCGTGGCCCCCCCCTGCC CTGTCCTCGCCGCCCCCCCGCCCTGTCCTCGCCGCCCCCCCGCCCTGTCC TCGCCCCCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DGKD_chr2_233349494_233477098	233397016	T T	TGGGGGGG others(88): Show TGGGGGGGGCGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGC GGGGGGGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0258 a0001c0009t0001g0258	1	336	0.0030	95	c.348 others(112): Show c.348+6541_348+6542insCGCCAGAGTGAGAGGACTCCAGAGGGGA CCAGGGTGGCTGCGGGGGGGGCCAGAGTGAGAGGACTCCAGAGGGGACCA GGGTGGCTGGGGGGGGG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233397164	G G	GGGCCAGA others(88): Show GGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGG GTGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	336	0.0030	95	c.348 others(112): Show c.348+6689_348+6690insCGAGAGGACTCCAGAGGGGACCAGGGTG GCTGGGGGGGGGGGTGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTG GCTGGCAGAGGCCAGAG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2C_chr10_269201_694668	414733	G G	GTGTGTAT others(88): Show GTGTGTATATATATATATATATATATATATATATAATGTGTATATATATA TATATATATATATATAATGTGTATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0077 a0001c0007t0002g0077	1	88	0.0114	95	c.860 others(110): Show c.860-624_860-623insTTATATATATATATATATATATATACACAT TATATATATATATATATATATATATACACATTATATATATATATATATAT ATATATATATACACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	7/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478321	A A	AGGGAGGG others(88): Show AGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGAAGA AGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	88	0.0114	95	c.158 others(112): Show c.158-5773_158-5772insCTCCCCTCCCCTCCCTTCTTCTCCCCTC CCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCTTCTTCTCCCCTC CCCTCCCCTCCCCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478321	A A	AGGGAGGG others(88): Show AGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGAAGA AGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0009	1	88	0.0114	95	c.158 others(112): Show c.158-5773_158-5772insCTCCCCTCCCTTCTTCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCTTCTTCTCCCCTC CCCTCCCCTCCCCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608596	C C	CCCCCCCC others(88): Show CCCCCCCCACACACACACATCCCCCCCACACACACACACCCCCCCCACAC ACACACATCCCCCCCACACACACACATCCCCCCCACACACACACAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0081 a0001c0022t0002g0081	1	88	0.0114	95	c.85+ others(112): Show c.85+80897_85+80898insATGTGTGTGTGTGGGGGGGATGTGTGTG TGTGGGGGGGATGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGGGGGGGAT GTGTGTGTGTGGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1471180	C C	CCATCCTT others(88): Show CCATCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGCCTTTCCT GACCCCTCCAGGCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	40	0.0250	95	c.107 others(114): Show c.107-30184_107-30183insTCCTTTCCCGACCCCTCCAGGCTTTC CCGACCCCTCCAGCCTTTCCTGACCCCTCCAGGCTTTCCCGACCCCTCCA GCCTTTCCCGACCCCTGCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1471343	C C	CGACCCCT others(88): Show CGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTCCAG CCTTTCCCGACCCCTGCAGCCTTTCCCGACCCCTCCAGCTTTTCCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	40	0.0250	95	c.107 others(114): Show c.107-30011_107-30010insCTTTCCCGACCCCTCCAGCTTTTCCT GACCCCTCCAGCCTTTCCCGACCCCTGCAGCCTTTCCCGACCCCTCCAGC TTTTCCTGACCCCTCCAGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAAF3_chr19_55153665_55171613	55153733	A A	AAAAAAAA others(88): Show AAAAAAAAAAAAAAAAGGAAATTAAAAAAAATTTTTTTTAAACCTCAAAG ATTACAGGCATAAGCAACTGCACCTGGACAGCAGAGACTCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0002 a0003c0002t0001g0002	1	398	0.0025	95	c.53 others(106): Show c.5328_*5329insGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCT TATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAATTTCCTTTT TTTTTTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4931		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55153734	A A	AAAAAAAA others(88): Show AAAAAAAAAAAAAAAGGAAATTAAAAAAAATTTTTTTTTAAACCTCAAAG ATTACAGGCATAAGCAACTGCACCTGGACAGCAGAGACTCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0015 a0001c0004t0001g0015	1	398	0.0025	95	c.53 others(106): Show c.5327_*5328insGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCT TATGCCTGTAATCTTTGAGGTTTAAAAAAAAATTTTTTTTAATTTCCTTT TTTTTTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4930		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55153755	A A	AAAAAAAA others(88): Show AAAAAAAAAATTTTTTTAAACCTCAAAGATTACAGGCATAAGCAACTGCA CCTGGACAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGGAAATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03225.hp2 HG03139.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	2	398	0.0050	95	c.53 others(106): Show c.5306_*5307insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCT CTGCTGTCCAGGTGCAGTTGCTTATGCCTGTAATCTTTGAGGTTTAAAAA AATTTTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4909		chr19	TogoVar

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