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
CRACDL_chr2_98788846_98941225	98900199	G G	GGGGGACA others(179): Show GGGGGACAGAGGCTCAGTGGGAAGGGGAGGCAGATGGACAGAGGCTCAGT AGGAGGGGAGGCAGGGGGACAGAGGCTCAGTGGGAAGGGGAGGCAGATGG ACAGAGGCTCAGTAGGAGGGGAGGCAGGGGGACAGAGGCTCAGTGGGAGG GGAGGTAGGGGACAGAGGCTCAGTAGGAGGGAAGGCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02818.hp1 HG02896.hp2 others(3): Show HG02055.hp2 HG02818.hp1 HG02896.hp2 HG03471.hp2 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0015 a0001c0001 a0001c0013 a0001c0015	a0001c0001t0001 a0001c0013t0001 a0001c0015t0001 a0001c0001t0001 a0001c0013t0001 a0001c0015t0001	a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 others(3): Show a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0013t0001g0197 a0001c0015t0001g0202	6	316	0.0190	186	c.-11 others(205): Show c.-11+35738_-11+35739insTGCCTTCCCTCCTACTGAGCCTCTGT CCCCTACCTCCCCTCCCACTGAGCCTCTGTCCCCCTGCCTCCCCTCCTAC TGAGCCTCTGTCCATCTGCCTCCCCTTCCCACTGAGCCTCTGTCCCCCTG CCTCCCCTCCTACTGAGCCTCTGTCCATCTGCCTCCCCTTCCCACTGAGC CTCTGTCCCC	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	1/9			chr2	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(179): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATTTCTATATATATATATATATATATATATTTCTATATATATATAT TTCTATATATATATATTTCTATATATATATATATTTCTATATATATATAT TTCTATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	370	0.0027	186	c.56 others(197): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATATATATATATATTTCTATATATATATATATATATATATATT TCTATATATATATATTTCTATATATATATATTTCTATATATATATATATT TCTATATATATATATTTCTATATATATATATTTCTATATATATATATATT TC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(179): Show ATATATATATATATATATATATATATATATATATATATATATATTTCTAT ATATATATATATATATATTTCTATATATATATATATTTCTATATATATAT ATTTCTATATATATATATTTCTATATATATATATTTCTATATATATATAT TTCTATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0341 a0001c0001t0001g0341	1	370	0.0027	186	c.56 others(197): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATTTCTATATATATATATATATATATTTCTATATATATATATA TTTCTATATATATATATTTCTATATATATATATTTCTATATATATATATT TCTATATATATATATTTCTATATATATATATTTCTATATATATATATATT TC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRTC3_chr15_90524923_90650345	90569560	G G	GCCTCAGC others(179): Show GCCTCAGCCTACCAAAGTGCTAGGATTATAGGCGTGAGCCACTGTGCCTG GCCAAACATAACTTTTATATGCACTGGGAAACCAAAAAATTAATGTGACT TACTTTATTGTGATATTCATTTTATTGCAGTGGTCTGGAACTGAACCTGC AAAATCTCCAAAGTATACCTGTATGTTGTTATAGACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(169): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18970.hp1 NA18975.hp1 NA18975.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19010.hp1 NA19011.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009	a0001c0001 a0001c0004 a0001c0007 others(11): Show a0001c0001 a0001c0004 a0001c0007 a0001c0016 a0002c0002 a0002c0009 a0002c0010 a0003c0003 a0003c0013 a0004c0005 a0006c0011 a0007c0017 a0008c0014 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0004t0005 a0001c0004t0008 a0001c0007t0001 a0001c0016t0029 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0013 a0002c0002t0017 a0002c0002t0022 a0002c0002t0028 a0002c0002t0031 a0002c0002t0048 a0002c0009t0001 a0002c0010t0003 a0003c0003t0001 a0003c0003t0003 a0003c0003t0009 a0003c0003t0027 a0003c0003t0036 a0003c0013t0005 a0004c0005t0001 a0006c0011t0043 a0007c0017t0001 a0008c0014t0008 a0009c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(166): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0185 a0001c0001t0002g0251 a0001c0001t0002g0268 a0001c0001t0002g0273 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0264 a0001c0001t0006g0047 a0001c0001t0006g0050 a0001c0001t0006g0051 a0001c0001t0007g0219 a0001c0001t0009g0041 a0001c0001t0010g0035 a0001c0001t0010g0141 a0001c0001t0010g0142 a0001c0001t0016g0168 a0001c0004t0005g0004 a0001c0004t0005g0005 a0001c0004t0005g0009 a0001c0004t0008g0008 a0001c0004t0008g0015 a0001c0007t0001g0205 a0001c0007t0001g0206 a0001c0016t0029g0042 a0002c0002t0001g0027 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0087 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0113 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0193 a0002c0002t0002g0073 a0002c0002t0002g0079 a0002c0002t0003g0068 a0002c0002t0003g0078 a0002c0002t0004g0094 a0002c0002t0013g0131 a0002c0002t0017g0133 a0002c0002t0022g0107 a0002c0002t0028g0081 a0002c0002t0031g0128 a0002c0002t0048g0089 a0002c0009t0001g0098 a0002c0010t0003g0090 a0003c0003t0001g0045 a0003c0003t0001g0060 a0003c0003t0001g0184 a0003c0003t0001g0204 a0003c0003t0001g0210 a0003c0003t0001g0215 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0220 a0003c0003t0001g0234 a0003c0003t0001g0243 a0003c0003t0001g0262 a0003c0003t0001g0266 a0003c0003t0003g0019 a0003c0003t0009g0032 a0003c0003t0027g0022 a0003c0003t0036g0031 a0003c0013t0005g0014 a0004c0005t0001g0091 a0006c0011t0043g0083 a0007c0017t0001g0237 a0008c0014t0008g0007 a0009c0008t0001g0259	172	276	0.6232	186	c.232 others(205): Show c.232-24076_232-24075insCCTCAGCCTACCAAAGTGCTAGGATT ATAGGCGTGAGCCACTGTGCCTGGCCAAACATAACTTTTATATGCACTGG GAAACCAAAAAATTAATGTGACTTACTTTATTGTGATATTCATTTTATTG CAGTGGTCTGGAACTGAACCTGCAAAATCTCCAAAGTATACCTGTATGTT GTTATAGACA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	2/14			chr15	TogoVar
CSPP1_chr8_67059392_67201614	67159924	C C	CTCTTTCT others(179): Show CTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCCTTCCTTCCTTCCTCCTTC CTTCCTTCTTCCTTCCTTCCTCCTTCCTTCCTTCTTCCTTCTTCCTTCCT TCCTTCTTTCTTTCTTTTCTTTTCCTTTCTTTCTTTCCTTCCTTCCTTCC TTCTCTTTCTTTCTTTCTTTTCTTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0126 a0005c0008t0002g0126	1	158	0.0063	186	c.253 others(203): Show c.2538+787_2538+788insTCTTTCTTTCTTTCTTTCTTTCCTTCTT TCCTTCCTTCCTTCCTCCTTCCTTCCTTCTTCCTTCCTTCCTCCTTCCTT CCTTCTTCCTTCTTCCTTCCTTCCTTCTTTCTTTCTTTTCTTTTCCTTTC TTTCTTTCCTTCCTTCCTTCCTTCTCTTTCTTTCTTTCTTTTCTTTCCTT CCTTCCTT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30			chr8	TogoVar
CST8_chr20_23486117_23501010	23490304	A A	ATATATAT others(179): Show ATATATATAAATTATATATAAAATATATATAATTTATATATATAAATTAT ATATAAAATATATATAATTTATATATATAAATTATATATAAAATATATAT AATTTATATATATAAATTATATATAAAATATATATAATTTATATATATAA ATTATATATAAAATATATATAATTTATATATATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	440	0.0023	186	c.-11 others(197): Show c.-1182_-1181insTATATATAAATTATATATAAAATATATATAATTT ATATATATAAATTATATATAAAATATATATAATTTATATATATAAATTAT ATATAAAATATATATAATTTATATATATAAATTATATATAAAATATATAT AATTTATATATATAAATTATATATAAAATATATATAATTTATATATATAA AT	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		812		chr20	TogoVar
CTDP1_chr18_79674803_79759503	79694341	C C	CGGGAGTG others(179): Show CGGGAGTGTGGGGGTTGCGAGCTCCTAGGGACACAGTGCCGGGCAGCCTC GTGTCCGCGGGGCGCGGTGGTCGGAGCAGCCCGGCTGGGATGGGAGTGTG GGGGCTGTGAGCACCTAGGGGCGGGTGCTGAGTGCTGGGCGGCCTCATGT CTGCAGGGCAGGGTGGTCGGAGCAGCCCAGCTGGGAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0071 a0001c0003t0001g0071	1	378	0.0027	186	c.315 others(201): Show c.315-851_315-850insAGTGCCGGGCAGCCTCGTGTCCGCGGGGCG CGGTGGTCGGAGCAGCCCGGCTGGGATGGGAGTGTGGGGGCTGTGAGCAC CTAGGGGCGGGTGCTGAGTGCTGGGCGGCCTCATGTCTGCAGGGCAGGGT GGTCGGAGCAGCCCAGCTGGGATGGGAGTGTGGGGGTTGCGAGCTCCTAG GGACAC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATGT others(179): Show ATATATGTGTGTATATATATATATATATATATATATGTGTATATATATAT ATATATATATATATATGTGTATATATATATATATATATATATGTGTATAT ATATATATATATATATATGTGTATATATATATATATATATATATATATGT GTATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0106 a0002c0002t0106	a0002c0002t0106g0245 a0002c0002t0106g0245	1	334	0.0030	186	c.290 others(201): Show c.290-150_290-149insTATGTGTGTATATATATATATATATATATA TATGTGTATATATATATATATATATATATATATGTGTATATATATATATA TATATATATGTGTATATATATATATATATATATATGTGTATATATATATA TATATATATATATATGTGTATATATATATATATATATATATATATATATA TATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATGT others(179): Show ATATATGTGTGTATATATATATATATATATATATGTGTGTATATATATAT ATATATATATATATGTGTATATATATATATATATATATATATGTGTATAT ATATATATATATATATATGTGTATATATATATATATATATATATGTGTAT ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0039 a0002c0002t0039	a0002c0002t0039g0255 a0002c0002t0039g0255	1	334	0.0030	186	c.290 others(201): Show c.290-150_290-149insTATGTGTGTATATATATATATATATATATA TGTGTGTATATATATATATATATATATATATGTGTATATATATATATATA TATATATATGTGTATATATATATATATATATATATGTGTATATATATATA TATATATATATGTGTATATATATATATATATATATATATATATATATATA TATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(179): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCCTCCCCTCCCCTC CTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	292	0.0034	186	c.165 others(201): Show c.165+476_165+477insGGGAGGGGAGGGGGGAGGAGGGGAGGGGAG GGGGGAGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGGGAGAGGAGAGGG GAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGGAGAGGAGAGGAGGGGA GGGGAAGGGGGAGGGGAGAGGGGAGGGGGAGGGGAGAGGAGTGGGGAGGA GAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(179): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC TCCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	292	0.0034	186	c.165 others(201): Show c.165+476_165+477insGGGAGGGGAGGGGGGAGGAGGGGAGGGGAG GGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGAGGAGAGGG GAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGGAGAGGAGAGGAGGGGA GGGGAAGGGGGAGGGGAGAGGGGAGGGGGAGGGGAGAGGAGTGGGGAGGA GAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(179): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC TCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	292	0.0034	186	c.165 others(201): Show c.165+476_165+477insGGGGAGGGGAGGGGGGAGGAGGGGAGGGGA GGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGAGGAGAGGG GAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGGAGAGGAGAGGAGGGGA GGGGAAGGGGGAGGGGAGAGGGGAGGGGGAGGGGAGAGGAGTGGGGAGGA GAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
CYP3A5_chr7_99643194_99684996	99675643	T T	TCTCCTCC others(179): Show TCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCCTTCC CCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCC CCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	292	0.0034	186	c.165 others(201): Show c.165+471_165+472insGAGGAGGGGAGGGGAGGGGGGAGGAGGGGA GGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGAGGA GAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGGAGAGGAGAGGA GGGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGGGAGGGGAGAGGAGTGGG GAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
CYTH2_chr19_48464369_48487314	48478771	G G	GCCGGGGG others(179): Show GCCGGGGGCCTGGACCCCTGGGTCTGACGGAGGAGGGGCCGGGGGCCTGG ACCCCTGGGTCTGACGGAGGAGGGGCCGGGGGCCTGGACCCCTGGGTCTG ACGGAGGAGGGGCCGGGGGCCTGGACCCCTGGGTCTGACGGAGGAGGGGC CGGGGGCCTGGACCCCTGGGTCTGACGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp1 HG02897.hp2 others(2): Show HG01884.hp1 HG02818.hp1 HG02897.hp2 HG03540.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0020 a0001c0001t0008g0038 a0001c0001t0008g0039 others(1): Show a0001c0001t0008g0020 a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0001t0008g0041	5	366	0.0137	186	c.111 others(203): Show c.1112+180_1112+181insCGGGGGCCTGGACCCCTGGGTCTGACGG AGGAGGGGCCGGGGGCCTGGACCCCTGGGTCTGACGGAGGAGGGGCCGGG GGCCTGGACCCCTGGGTCTGACGGAGGAGGGGCCGGGGGCCTGGACCCCT GGGTCTGACGGAGGAGGGGCCGGGGGCCTGGACCCCTGGGTCTGACGGAG GAGGGGCC	CYTH2	ENSG00000105443.17	transcript	ENST00000452733.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DEAF1_chr11_639233_700222	664411	C C	CCAGCTAT others(179): Show CCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACT CTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCA CACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAG GACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00735.hp2 others(14): Show HG00323.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01099.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02293.hp1 HG02602.hp1 HG03041.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0007 a0001c0001t0001g0272 a0001c0001t0001g0277 others(14): Show a0001c0001t0001g0007 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0289 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0006g0031	17	345	0.0493	186	c.150 others(206): Show c.1503+9939_1503+10124dupAGCCAGGACTCAGAGTGACCGAGTG TGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAG AGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGA GCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGT GTGAATAGCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DEAF1_chr11_639233_700222	664411	C C	CCAGCTAT others(179): Show CCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACT CTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCA CACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAG GCCAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	345	0.0029	186	c.150 others(207): Show c.1503+10124_1503+10125insAGCCAGGACTCAGAGTGACCGAGT GTGACGCCCTGGCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCA GAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG AGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGG TGTGAATAGCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DEAF1_chr11_639233_700222	665002	C C	CGTCACAC others(179): Show CGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGG AGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATT CACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCT GGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02074.hp1 HG02129.hp1 others(1): Show HG00280.hp2 HG02074.hp1 HG02129.hp1 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0227 a0001c0002t0001g0228 others(1): Show a0001c0002t0001g0220 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0247	4	345	0.0116	186	c.150 others(205): Show c.1503+9533_1503+9534insACCCTGTCCTCCTCCTCTCGGTGTGA ATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTC CTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGC CCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGAC CGAGTGTGAC	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DGKD_chr2_233349494_233477098	233397300	T T	TGGGGGGG others(179): Show TGGGGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTG AGGGGGGCAGCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCA GAGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGC CAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	336	0.0030	186	c.348 others(203): Show c.348+6827_348+6828insGCCAGAGCGAGAGGACACCAGAGGGGAC CAGGGTGGCTGAGGGGGGCAGCAGAGTGAGAGGACTCCAGAGGGGACCAG GGTGGCTGGCAGAGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGG CTGGCAGAGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGG GGGGGGGG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2C_chr10_269201_694668	608439	A A	ACACACGC others(179): Show ACACACGCCCCCCCCACACACACACACGCCCCCCCCACACACACACACGC CCCCCCCACACACACACACGCCCCCCCACACACACACACGCCCCCCCACA CACACACACGCCCCCCCACACACACACATCCCCCCCACACACACACATCC CCCCCACACACACACATCCCCCCCACACACACACATC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0082 a0001c0002t0003g0082	1	88	0.0114	186	c.85+ others(203): Show c.85+81054_85+81055insGATGTGTGTGTGTGGGGGGGATGTGTGT GTGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGC GTGTGTGTGTGTGGGGGGGCGTGTGTGTGTGTGGGGGGGCGTGTGTGTGT GTGGGGGGGGCGTGTGTGTGTGTGGGGGGGGCGTGTGTGTGTGTGGGGGG GGCGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1164217	A A	ATTTTGGT others(179): Show ATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCTCAGGGCCCGTCGT TTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCAGGGCCCGTCGTT TTGGTTTGTGGGGACTGATTGTGAGCCCCCCAGGGTTTGTTTTTGTTTGT GGGGACAGATTTTTCTGTGAGCCCCCAGGGCCCGTCG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0008 a0002c0010t0008	a0002c0010t0008g0040 a0002c0010t0008g0040	1	40	0.0250	186	c.74- others(203): Show c.74-94599_74-94598insTCAGGGCCCGTCGTTTTGGTTTGTGGGG ACAGATTTTTCTGTGAGCCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGA CTGATTGTGAGCCCCCCAGGGTTTGTTTTTGTTTGTGGGGACAGATTTTT CTGTGAGCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGACAGATTTTTCT GTGAGCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32554924	A A	AGAAAGAA others(179): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02129.hp1 HG01258.hp1 HG02129.hp1	a0012 a0019 a0012 a0019	a0012c0035 a0019c0034 a0012c0035 a0019c0034	a0012c0035t0001 a0019c0034t0001 a0012c0035t0001 a0019c0034t0001	a0012c0035t0001g0106 a0019c0034t0001g0013 a0012c0035t0001g0106 a0019c0034t0001g0013	2	126	0.0159	186	c.199 others(205): Show c.1993-9591_1993-9590insCTTTCTTTCTTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DNAH10_chr12_123757301_123940714	123912126	C C	CGGGGGGG others(179): Show CGGGGGGGTCTGTCCCGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGG GGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTC TGTCCTGGGTGGGTCTGTCCTGGGTGGGTCTGTCCTGGGGGGGGGTCTGT CCTGGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0049 a0001c0003t0002g0049	1	170	0.0059	186	c.101 others(205): Show c.10135-958_10135-957insCGGGGGGGTCTGTCCTGGGGGGGGTC TGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCC TGGGGGGTCTGTCCTGGGTGGGTCTGTCCTGGGTGGGTCTGTCCTGGGGG GGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGG GGGTCTGTCC	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912128	G G	GGGGGTCT others(179): Show GGGGGTCTGTCCCGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG TCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTTCTGGGGGGGGTCT GTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCC TGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0047 a0047	a0047c0063 a0047c0063	a0047c0063t0001 a0047c0063t0001	a0047c0063t0001g0170 a0047c0063t0001g0170	1	170	0.0059	186	c.101 others(205): Show c.10135-966_10135-965insTCTGTCCCGGGGGGGTCTGTCCTGGG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGG TCTGTTCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTG TCCTGGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGT CCTGGTGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DOCK8_chr9_209865_470255	400154	C C	CCACCACC others(179): Show CCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCAC CACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCA TCACCACCACCTCCACCATCACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0146 a0003c0004t0001g0146	1	256	0.0039	186	c.323 others(203): Show c.3234+902_3234+903insTCCACCATCACCACCACCTCCACCATCA CCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCAC CACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCA TCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400638	C C	CCACCACC others(179): Show CCACCACCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACC ACTTCCTTCACCACCACCACCATCTTCACCGTCACCACCACCTCCACCAC CACCACCTCCTCCACCACCACCACCACCTCCACCACCATCACCACCACCT CCACCATCACCACCACCTCCACCACCACCAGCATCTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0024 a0024	a0024c0163 a0024c0163	a0024c0163t0001 a0024c0163t0001	a0024c0163t0001g0014 a0024c0163t0001g0014	1	256	0.0039	186	c.323 others(205): Show c.3234+1384_3234+1385insCCACCACCACCTCCACCACCACCACC ACCTCCACCATCACCACCACTTCCTTCACCACCACCACCATCTTCACCGT CACCACCACCTCCACCACCACCACCTCCTCCACCACCACCACCACCTCCA CCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGC ATCTTCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPP9_chr19_4670227_4728842	4702841	G G	GGGGAGGG others(179): Show GGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAG AGGGAGGGAGAGGGAGGGAGAGGGAGGGAAGGAAAGGGAAGGAGAGAGGG AGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGG AGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	314	0.0032	186	c.770 others(201): Show c.770-126_770-125insTCTCCCTCCCTCTCCCTCCCTCTCCCTCCC TCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCC TCTCCCTCCCTCTCTCCTTCCCTTTCCTTCCCTCCCTCTCCCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTC CCTCCC	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding	7/21			chr19	TogoVar
DPP9_chr19_4670227_4728842	4702841	G G	GGGGAGGG others(179): Show GGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAG AGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAAGGAAAGGGAA GGAGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGG AGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	314	0.0032	186	c.770 others(201): Show c.770-126_770-125insTCTCCCTCCCTCTCCCTCCCTCTCCCTCCC TCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCC TCTCTCCTTCCCTTTCCTTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTC CCTCCC	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding	7/21			chr19	TogoVar
EFTUD2_chr17_44844948_44904445	44873900	T T	TTTTTTTT others(179): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG02647.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	2	370	0.0054	186	c.870 others(203): Show c.870-1331_870-1330insTTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	EFTUD2	ENSG00000108883.13	transcript	ENST00000426333.7	protein_coding	10/27			chr17	TogoVar
EHMT1_chr9_137614005_137841127	137723399	C C	CGGGGTGT others(179): Show CGGGGTGTGTCCGTGTCTGTGGTTCTGGGCCTGAGCCCGGGGTGTGTCTG TGTCCGTGGTTCTGGGCCTGAGCCCGGGGTGTGTCCGTGTCTGTGGTTCT GGGCCTGAGCCCGGGGTGTGTCTGTGTCCGTGGTTCTGGGCCTGAGCCCG GGGTGTGCCCTGTGTCTGTGGTTCTGGGCCTGAGCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02922.hp2 HG02109.hp1 HG02486.hp2 HG02922.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0146 a0001c0006t0001g0147 a0001c0006t0001g0148 a0001c0006t0001g0146 a0001c0006t0001g0147 a0001c0006t0001g0148	3	170	0.0177	186	c.643 others(203): Show c.643-4942_643-4941insTCCGTGTCTGTGGTTCTGGGCCTGAGCC CGGGGTGTGTCTGTGTCCGTGGTTCTGGGCCTGAGCCCGGGGTGTGTCCG TGTCTGTGGTTCTGGGCCTGAGCCCGGGGTGTGTCTGTGTCCGTGGTTCT GGGCCTGAGCCCGGGGTGTGCCCTGTGTCTGTGGTTCTGGGCCTGAGCCT GGGGTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781232	G G	GGTGATGA others(179): Show GGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGA CGCCGGGACGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGAGA CGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGT GATGACGCTGGGATGTGTGGTGATGACGCTGAGACGT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	170	0.0059	186	c.227 others(205): Show c.2276-1055_2276-1054insTGACGCCGAGACGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGGGACG TGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGA TGACGCCGAGACGTGTGGTGATGACGCTGGGATGTGTGGTGATGACGCTG AGACGTGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781232	G G	GGTGATGA others(179): Show GGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGA CGCCGGGACGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGAGA CGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGCTGAGACGTGTGGT GATGACGCTGGGATGTGTGGTGATGACGCTGAGACGT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	170	0.0059	186	c.227 others(205): Show c.2276-1055_2276-1054insTGACGCCGAGACGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGGGACG TGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGA TGACGCTGAGACGTGTGGTGATGACGCTGGGATGTGTGGTGATGACGCTG AGACGTGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781232	G G	GGTGATGA others(179): Show GGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGA CGCCGGGACGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGAGA CGTGTGGTGATGACGCCGAGACGTGTGGTGATGATGCTGAGACGTGTGGT GATGACGCTGGGATGTGTGGTGATGACGCTGAGACGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG01070.hp2 others(25): Show HG00323.hp2 HG00639.hp2 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01496.hp2 HG01934.hp1 HG01981.hp2 HG02129.hp2 HG02273.hp1 HG02293.hp1 HG02602.hp1 HG03017.hp1 HG03831.hp1 NA18947.hp2 NA18973.hp2 NA18979.hp2 NA18982.hp1 NA19007.hp2 NA19070.hp1 NA19080.hp1 NA20805.hp1 NA20905.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0006 a0014	a0001c0002 a0001c0010 a0001c0014 others(4): Show a0001c0002 a0001c0010 a0001c0014 a0004c0013 a0005c0019 a0006c0021 a0014c0017	a0001c0002t0001 a0001c0010t0001 a0001c0014t0001 others(4): Show a0001c0002t0001 a0001c0010t0001 a0001c0014t0001 a0004c0013t0001 a0005c0019t0001 a0006c0021t0001 a0014c0017t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(25): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0032 a0001c0002t0001g0065 a0001c0002t0001g0124 a0001c0002t0001g0141 a0001c0010t0001g0034 a0001c0014t0001g0008 a0004c0013t0001g0031 a0005c0019t0001g0007 a0006c0021t0001g0016 a0014c0017t0001g0023	28	170	0.1647	186	c.227 others(205): Show c.2276-1055_2276-1054insTGACGCCGAGACGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGGGACG TGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGA TGATGCTGAGACGTGTGGTGATGACGCTGGGATGTGTGGTGATGACGCTG AGACGTGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781232	G G	GGTGATGA others(179): Show GGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGA CGCCGGGACGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGAGA CGTGTGGTGATGACGCCGAGACGTGTGGTGATGATGCTGAGATGTGTGGT GATGACGCTGGGATGTGTGGTGATGACGCTGAGACGT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	170	0.0059	186	c.227 others(205): Show c.2276-1055_2276-1054insTGACGCCGAGACGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGGGACG TGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGA TGATGCTGAGATGTGTGGTGATGACGCTGGGATGTGTGGTGATGACGCTG AGACGTGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781232	G G	GGTGATGA others(179): Show GGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGA CGCCGGGACGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGGGA CGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGCTGAGACGTGTGGT GATGACGCTGGGATGTGTGGTGATGACGCTGAGACGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0036 a0001c0010t0001g0036	1	170	0.0059	186	c.227 others(205): Show c.2276-1055_2276-1054insTGACGCCGAGACGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGGGACG TGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGAGACGTGTGGTGA TGACGCTGAGACGTGTGGTGATGACGCTGGGATGTGTGGTGATGACGCTG AGACGTGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781232	G G	GGTGATGA others(179): Show GGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGA CGCCGGGACGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGGGA CGTGTGGTGATGACGCCGAGACGTGTGGTGATGATGCTGAGACGTGTGGT GATGACGCTGGGATGTGTGGTGATGACGCTGAGACGT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	170	0.0059	186	c.227 others(205): Show c.2276-1055_2276-1054insTGACGCCGAGACGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGGGACG TGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGAGACGTGTGGTGA TGATGCTGAGACGTGTGGTGATGACGCTGGGATGTGTGGTGATGACGCTG AGACGTGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781232	G G	GGTGATGA others(179): Show GGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGA CGCCGGGATGTGTGGTGATGACGCCGGGATGTGTGGTGATGACGCCGAGA CGTGTGGTGATGACGCCGAGACGTGTGGTGATGATGCTGAGACGTGTGGT GATGACGCTGGGATGTGTGGTGATGACGCTGAGACGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02965.hp1 NA18906.hp2 HG01891.hp1 HG02965.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0139 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0139	3	170	0.0177	186	c.227 others(205): Show c.2276-1055_2276-1054insTGACGCCGAGACGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGGGATGTGTGGTGATGACGCCGGGATG TGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGA TGATGCTGAGACGTGTGGTGATGACGCTGGGATGTGTGGTGATGACGCTG AGACGTGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF3B_chr7_2349827_2385745	2378433	C C	CGCGAGTG others(179): Show CGCGAGTGCTGCTGGGAAGCTGTGTTGTGTGAATGACCCTGGGTGTCATG GAGGAAGGAACAGGCGAGCGCTCCTGGGATGCTGTGTTGTGTGAATGACC CTCGGTGTCATGGAGGAAGGAACAGGCGAGCGTTCCTGGGATGCTGTGTT GTGTGAATGACCCTTGGTGTCATGGAGGAAGGAACAG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0001 a0015c0024t0001	a0015c0024t0001g0285 a0015c0024t0001g0285	1	384	0.0026	186	c.215 others(203): Show c.2155-251_2155-250insTGCTGCTGGGAAGCTGTGTTGTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAACAGGCGAGCGCTCCTGGGATGCTG TGTTGTGTGAATGACCCTCGGTGTCATGGAGGAAGGAACAGGCGAGCGTT CCTGGGATGCTGTGTTGTGTGAATGACCCTTGGTGTCATGGAGGAAGGAA CAGGCGAG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EML1_chr14_99788413_99947060	99927975	G G	GTGGTGGT others(179): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGAT GGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0210 a0003c0002t0001g0210	1	288	0.0035	186	c.190 others(205): Show c.1909+7109_1909+7110insATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENTREP1_chr9_69320215_69397456	69367816	T T	TATATATA others(179): Show TATATATAAATATATATACACACATATATATAAATATATATACACACATA TATATAAATATATATATACACATATATATAAATATATATATACACATATA TATAAAAATATATATATACATATATAAATATATATATACACATATATATA AATATATATATACACATATATAAATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	342	0.0029	186	c.472 others(203): Show c.472-3666_472-3665insCACACATATATATAAATATATATACACA CATATATATAAATATATATATACACATATATATAAATATATATATACACA TATATATAAAAATATATATATACATATATAAATATATATATACACATATA TATAAATATATATATACACATATATAAATATATATACACACATATATAAA TATATATA	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69367816	T T	TATATATA others(179): Show TATATATAAATATATATATACACATATATATAAATATATATACACACATA TATATAAATATATATACACACATATATATAAATATATATATACACATATA TATAAATATATATATACACATATATATAAAAATATATATATACATATATA AATATATATATACACATATATAAATATATATACACAC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0252 a0001c0001t0003g0252	1	342	0.0029	186	c.472 others(203): Show c.472-3652_472-3651insAATATATATACACACATATATATAAATA TATATACACACATATATATAAATATATATATACACATATATATAAATATA TATATACACATATATATAAAAATATATATATACATATATAAATATATATA TACACATATATAAATATATATACACACATATATAAATATATATATACACA TATATATA	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
EPHX2_chr8_27486143_27550564	27501387	C C	CTTCTTCT others(179): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTTC TTCTTCTTTCTTCTTCTTTCTTCTTCTTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0093 a0001c0001t0006g0093	1	374	0.0027	186	c.186 others(201): Show c.186+385_186+386insCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTT CTTCTTCTTTCTTCTTCTTTCTTCTTCTTTCTTCTTCTTTCTTCTTCTTT CTTCTT	EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERBB3_chr12_56075165_56108505	56091333	A A	ATAAATAT others(179): Show ATAAATATATATATAAATAATATATATAAATATAAATATATATTACAAAT ATATATTATAAATATAAACATATAAATATATATTATATATAAATATATAT ATATTTATGTTTATATTTATAATATATATTTGTAACATATATTTATATTT ATATATAAATTTATATATATATAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02896.hp1 others(1): Show HG01167.hp2 HG01169.hp1 HG02896.hp1 HG02897.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0022 a0001c0001 a0009c0022	a0001c0001t0009 a0009c0022t0009 a0001c0001t0009 a0009c0022t0009	a0001c0001t0009g0201 a0001c0001t0009g0202 a0001c0001t0009g0203 others(1): Show a0001c0001t0009g0201 a0001c0001t0009g0202 a0001c0001t0009g0203 a0009c0022t0009g0204	4	392	0.0102	186	c.111 others(205): Show c.1110-1414_1110-1413insTAAATATATATATAAATAATATATAT AAATATAAATATATATTACAAATATATATTATAAATATAAACATATAAAT ATATATTATATATAAATATATATATATTTATGTTTATATTTATAATATAT ATTTGTAACATATATTTATATTTATATATAAATTTATATATATATAAAAT ATATATATAT	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	9/27			chr12	TogoVar
EVA1C_chr21_32407706_32520387	32477700	A A	ACCTCCCC others(179): Show ACCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCC CCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTC ACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCACCTCCC CCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0273 a0001c0002t0001g0273	1	346	0.0029	186	c.634 others(203): Show c.634+9913_634+9914insACCTCCCCCGTACGCCCTCCCCTCCCCC GTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCC CTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCT CCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGT ACGCCCTC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EXOC3L4_chr14_103089725_103115559	103109506	T T	TCCCTCCC others(179): Show TCCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCT CTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTTCCTCTCCACCCTGTCC CCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTC CCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0001 a0002c0032t0001	a0002c0032t0001g0095 a0002c0032t0001g0095	1	404	0.0025	186	c.197 others(203): Show c.1977-523_1977-522insCTCCCTCCCTCTCCACCCTGTCCCCGTG TCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCC CTTCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACC CTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCGTGTC TCCCTCCC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC4_chr7_133248078_134070761	133896831	A A	ATTTTTGT others(179): Show ATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0065 a0001c0002t0006g0065	1	102	0.0098	186	c.187 others(205): Show c.1871+1103_1871+1104insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCT AATTTTTTGT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EYA4_chr6_133236357_133537128	133410619	T T	TAGAACTA others(179): Show TAGAACTAAGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG01168.hp2 others(9): Show HG00642.hp2 HG00673.hp1 HG01168.hp2 HG01517.hp1 HG01943.hp1 HG02074.hp2 HG02486.hp1 HG03017.hp1 HG03669.hp2 HG04199.hp2 NA18998.hp1 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0025 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0025 a0002c0002t0001 a0002c0002t0004	a0001c0001t0002g0017 a0001c0001t0002g0028 a0001c0001t0002g0062 others(9): Show a0001c0001t0002g0017 a0001c0001t0002g0028 a0001c0001t0002g0062 a0001c0001t0002g0070 a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0003g0163 a0001c0001t0025g0210 a0002c0002t0001g0003 a0002c0002t0004g0029 a0002c0002t0004g0174	12	264	0.0455	186	c.83+ others(203): Show c.83+28192_83+28193insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGAGAACT AAGGTCTT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
FER1L5_chr2_96637764_96709883	96659354	C C	CTTTCTTT others(179): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0155 a0002c0001t0001g0155	1	226	0.0044	186	c.748 others(201): Show c.748-985_748-984insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FGD2_chr6_37000655_37034069	37012986	G G	GTGTATAC others(179): Show GTGTATACATATATATACGTATATATACACGTATATATACGTATATATAT ACGTGTATATATGTATATATACGTGTATATACACGTATATATACGTGTAT ATACACGTATATATACGTGTATATACACGTATATATACGTGTATATACAC GTATATATACGTGTATATACACGTATATATACGTGTA	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18946.hp2 NA18966.hp1 others(4): Show HG02723.hp1 NA18946.hp2 NA18966.hp1 NA18968.hp1 NA18977.hp2 NA19078.hp1 NA19079.hp2	a0002 a0007 a0002 a0007	a0002c0003 a0002c0004 a0002c0009 others(1): Show a0002c0003 a0002c0004 a0002c0009 a0007c0017	a0002c0003t0002 a0002c0004t0003 a0002c0004t0015 others(2): Show a0002c0003t0002 a0002c0004t0003 a0002c0004t0015 a0002c0009t0002 a0007c0017t0001	a0002c0003t0002g0124 a0002c0004t0003g0041 a0002c0004t0015g0141 others(4): Show a0002c0003t0002g0124 a0002c0004t0003g0041 a0002c0004t0015g0141 a0002c0009t0002g0139 a0002c0009t0002g0140 a0007c0017t0001g0041 a0007c0017t0001g0179	7	430	0.0163	186	c.528 others(201): Show c.528-622_528-621insGTATACATATATATACGTATATATACACGT ATATATACGTATATATATACGTGTATATATGTATATATACGTGTATATAC ACGTATATATACGTGTATATACACGTATATATACGTGTATATACACGTAT ATATACGTGTATATACACGTATATATACGTGTATATACACGTATATATAC GTGTAT	FGD2	ENSG00000146192.15	transcript	ENST00000274963.13	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
FGFR4_chr5_177081915_177103144	177097094	C C	CTCCTCCT others(179): Show CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTC CTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0037 a0037	a0037c0013 a0037c0013	a0037c0013t0001 a0037c0013t0001	a0037c0013t0001g0131 a0037c0013t0001g0131	1	372	0.0027	186	c.215 others(203): Show c.2154-191_2154-190insCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCT CCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCC TCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTC TTCCTCCT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FLT3_chr13_27998274_28105576	27998863	T T	TATATTTA others(179): Show TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG02155.hp2 HG03834.hp1 others(3): Show HG01175.hp2 HG02155.hp2 HG03834.hp1 NA18522.hp2 NA19004.hp1 NA19058.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0021	a0001c0001 a0001c0004 a0003c0003 others(2): Show a0001c0001 a0001c0004 a0003c0003 a0005c0007 a0021c0033	a0001c0001t0002 a0001c0004t0002 a0003c0003t0001 others(2): Show a0001c0001t0002 a0001c0004t0002 a0003c0003t0001 a0005c0007t0001 a0021c0033t0001	a0001c0001t0002g0081 a0001c0001t0002g0159 a0001c0004t0002g0132 others(3): Show a0001c0001t0002g0081 a0001c0001t0002g0159 a0001c0004t0002g0132 a0003c0003t0001g0236 a0005c0007t0001g0249 a0021c0033t0001g0200	6	292	0.0206	186	c.51 others(197): Show c.5188_*5189insTTATATGTATATAAATATATATATTTATATGTAT ATAAATATATATATTTATATGTATATAAATATATATATTTATATGTATAT AAATATATATATTTATATGTATATAAATATATATATTTATATGTATATAA ATATATATATTTATATGTATATAAATATATATATTTATATGTATATAAAT AT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4410		chr13	TogoVar

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