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
EXD3_chr9_137301896_137428162	137323197	A A	ACCCACGA others(173): Show ACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTG ATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGCTCTGCCGACACCC CACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGGCCCAC GAGGGGTGATCTGCCGACACCCCACCCCGGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	82	0.0122	180	c.218 others(197): Show c.2184+527_2184+528insCCCGGGGTGGGGTGTCGGCAGATCACCC CTCGTGGGCCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGG GTGGGGTGTCGGCAGAGCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCA GATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTG GG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137323197	A A	ACCCACGA others(173): Show ACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGGCCCACGAGGGGTG ATCTGCCGACACCCCACCCCGGGCCCACGAGGGGTGATCTGCCGACACCC CACCCCGGGCCCACGAGGGGTGATCTGCCGACACCCCACCCCGGGCCCAC GAGGGGTGATCTGCCGACACCCCACCCCGGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	82	0.0122	180	c.218 others(197): Show c.2184+527_2184+528insCCCGGGGTGGGGTGTCGGCAGATCACCC CTCGTGGGCCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGCCCGGG GTGGGGTGTCGGCAGATCACCCCTCGTGGGCCCGGGGTGGGGTGTCGGCA GATCACCCCTCGTGGGCCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTG GG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137328873	T T	TACACGGG others(173): Show TACACGGGGCTACACGGGACTACACGGGGCTACACGGGACTACACAGGGT CACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGAC TACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGAC TACACGGGACTACACGGGACTACACGGGGTC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	82	0.0122	180	c.199 others(199): Show c.1999-4731_1999-4730insGACCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCC GTGTGACCCTGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCC GTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329656	G G	GCTACACG others(173): Show GCTACACGGGGCTACACGGGGCTACACGGGACTACACGGGGCTACACGGG GCTACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGG ACTACACGGGGTCACACGGGACTACACGGGGCTACACGGGACTACACGGG GCTACACGGGACTACACAGGGTCACACGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0025 a0003c0003t0001g0025	1	82	0.0122	180	c.199 others(199): Show c.1999-5514_1999-5513insTCCCGTGTGACCCTGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGT GTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGT GTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137342180	G G	GGGGCTCA others(173): Show GGGGCTCAGGCACCAGGAGCCGTCTCCCAGGAGTCAGAGGAAACGGGGCT CAGGCACCAGGAGCCGTCTCCCAGGAGTCAGAGGAAACGGGGCTCAGGCA CCAGGAGCCGTCTCCCAGGGGAGTCAGAGGAAACGGGGCTCAGGCACCAG GAGCCGTCTCCCAGGGGAGTCAGAGGAAACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0023 a0023	a0023c0024 a0023c0024	a0023c0024t0001 a0023c0024t0001	a0023c0024t0001g0049 a0023c0024t0001g0049	1	82	0.0122	180	c.199 others(199): Show c.1998+5890_1998+5891insTGTTTCCTCTGACTCCCCTGGGAGAC GGCTCCTGGTGCCTGAGCCCCGTTTCCTCTGACTCCCCTGGGAGACGGCT CCTGGTGCCTGAGCCCCGTTTCCTCTGACTCCTGGGAGACGGCTCCTGGT GCCTGAGCCCCGTTTCCTCTGACTCCTGGGAGACGGCTCCTGGTGCCTGA GCCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC4_chr7_133248078_134070761	133896831	A A	ATTTTTGT others(173): Show ATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTATGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA21309.hp2 HG02559.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0002 a0001c0008t0015 a0001c0002t0002 a0001c0008t0015	a0001c0002t0002g0079 a0001c0008t0015g0078 a0001c0002t0002g0079 a0001c0008t0015g0078	2	102	0.0196	180	c.187 others(199): Show c.1871+1103_1871+1104insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTT TTGT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
FAF2_chr5_176443385_176515074	176451811	C C	CACATATA others(173): Show CACATATATATATACATATATATATACACATATATATATACATATATATA TACACATATATATATACATATATATATACACATATATATACATATATATA TACACATATATATATACATATATATATACACATATATATATACATATATA TATACACATATATATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	372	0.0027	180	c.63+ others(195): Show c.63+3344_63+3345insTATATATATACATATATATATACACATATA TATATACATATATATATACACATATATATATACATATATATATACACATA TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATATACA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAF2_chr5_176443385_176515074	176451811	C C	CACATATA others(173): Show CACATATATATATACATATATATATACACATATATATATACATATATATA TACACATATATATATACATATATATATACACATATATATATACATATATA TATACACATATATATATACATATATATATACACATATATATATACATATA TATATACACATATATATATACATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02055.hp2 NA20752.hp1 HG01496.hp1 HG02055.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0001 a0001c0001t0004 a0001c0001t0018	a0001c0001t0001g0202 a0001c0001t0004g0203 a0001c0001t0018g0204 a0001c0001t0001g0202 a0001c0001t0004g0203 a0001c0001t0018g0204	3	372	0.0081	180	c.63+ others(195): Show c.63+3344_63+3345insTATATATATACATATATATATACACATATA TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACACATATATATATACATATATATATACA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM168A_chr11_73395487_73603112	73545002	A A	AATTATAT others(173): Show AATTATATATTATATATAATATATATTATATATATTATATATAATATATT ATATATAATATATATTATATATATTATATATATTATATATAATATATATA ATATATAATATATATATTATATATAATATATATAATATATATAATATATA ATATATATATTATATATAATATATATAATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0067 a0001c0001t0006g0067	1	180	0.0056	180	c.-19 others(199): Show c.-19+52920_-19+52921insATATTATATATATTATATATAATATA TATATTATATATTATATATATTATATATATTATATATAATATATATATTA TATATTATATATATTATATATAATATATATAATATATATAATATATATTA TATATAATATATTATATATAATATATATAATATATATTATATATAATATA TAAT	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FAM83F_chr22_39989954_40048534	40047439	T T	TAAAAATA others(173): Show TAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG02976.hp1 HG01891.hp1 HG02630.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0078 a0002c0002t0060 a0002c0002t0061 a0001c0001t0078 a0002c0002t0060 a0002c0002t0061	a0001c0001t0078g0067 a0002c0002t0060g0073 a0002c0002t0061g0162 a0001c0001t0078g0067 a0002c0002t0060g0073 a0002c0002t0061g0162	3	234	0.0128	180	c.17 others(193): Show c.17874_*17875insAAAAATACAAAAAAATTAGCCGGGCGTGGTGG CGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding		3906		chr22	TogoVar
FBN3_chr19_8060402_8154592	8086105	G G	GCAGGCAG others(173): Show GCAGGCAGTGGGGGGAACAGGCAGTGGGGGGGGACAGGCAGTGGGGGGGG ACAGGCAGTGGGGGGAACAGGCAGTGGGGGGGGACAGGCAGTGGGGGGAA CAGGCAGTGGGAGGGACAGGGAGTGAAGGGGGCAGGCAGTGGGGGGAACA GGCAGTGGGGGGGGACAGGCAGTGGGGGGAA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0034 a0034	a0034c0046 a0034c0046	a0034c0046t0001 a0034c0046t0001	a0034c0046t0001g0293 a0034c0046t0001g0293	1	380	0.0026	180	c.688 others(195): Show c.6880+94_6880+95insTTCCCCCCACTGCCTGTCCCCCCCCACTGC CTGTTCCCCCCACTGCCTGCCCCCTTCACTCCCTGTCCCTCCCACTGCCT GTTCCCCCCACTGCCTGTCCCCCCCCACTGCCTGTTCCCCCCACTGCCTG TCCCCCCCCACTGCCTGTCCCCCCCCACTGCCTGTTCCCCCCACTGCCTG	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	55/63			chr19	TogoVar
FHAD1_chr1_15242223_15403328	15388335	C C	CCCCTCCC others(173): Show CCCCTCCCCAGCCCCTGCCCCACCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCTTCCCTTCCCTCCCCAGTCCCTGTCCAACCTCCCTCCCTCCCTCC CTCCCTTCCCTCCCCAGTCCCTGCCCCACCTCCCTCCCTCCCTTCCCTCC CCAGGCCCTGCCCCACCTCCCTCCCTCCATT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG02257.hp1 others(14): Show HG00735.hp2 HG00738.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03516.hp1 HG03540.hp2 NA20300.hp2 NA21309.hp2	a0007 a0015 a0026 others(3): Show a0007 a0015 a0026 a0037 a0039 a0068	a0007c0012 a0007c0033 a0007c0059 others(8): Show a0007c0012 a0007c0033 a0007c0059 a0007c0082 a0007c0101 a0015c0017 a0026c0113 a0026c0117 a0037c0069 a0039c0078 a0068c0064	a0007c0012t0016 a0007c0012t0026 a0007c0033t0007 others(10): Show a0007c0012t0016 a0007c0012t0026 a0007c0033t0007 a0007c0033t0014 a0007c0059t0014 a0007c0082t0016 a0007c0101t0014 a0015c0017t0007 a0026c0113t0016 a0026c0117t0016 a0037c0069t0023 a0039c0078t0007 a0068c0064t0041	a0007c0012t0016g0187 a0007c0012t0016g0256 a0007c0012t0026g0245 others(14): Show a0007c0012t0016g0187 a0007c0012t0016g0256 a0007c0012t0026g0245 a0007c0012t0026g0246 a0007c0033t0007g0138 a0007c0033t0014g0068 a0007c0059t0014g0167 a0007c0082t0016g0180 a0007c0101t0014g0119 a0015c0017t0007g0008 a0015c0017t0007g0147 a0015c0017t0007g0148 a0026c0113t0016g0194 a0026c0117t0016g0234 a0037c0069t0023g0293 a0039c0078t0007g0232 a0068c0064t0041g0006	17	294	0.0578	180	c.426 others(197): Show c.4269+214_4269+215insCCCCTGCCCCACCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCTTCCCTTCCCTCCCCAGTCCCTGTCCAACCTCCC TCCCTCCCTCCCTCCCTTCCCTCCCCAGTCCCTGCCCCACCTCCCTCCCT CCCTTCCCTCCCCAGGCCCTGCCCCACCTCCCTCCCTCCATTCCCTCCCC AG	FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	32/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
FHAD1_chr1_15242223_15403328	15388335	C C	CCCCTCCC others(173): Show CCCCTCCCCAGCCCCTGCCCCACCTCCCTCCCTCCCTCCCTCCTTCCCTT CCCTCCCCAGTCCCTGTCCAACCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCCTCCCCAGTCCCTGCCCCACCTCCCTCCCTCCCTTCCCTCC CAGGCCCTGCCCCACCTCCCCTCCCTCCATT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0063 a0063	a0063c0106 a0063c0106	a0063c0106t0004 a0063c0106t0004	a0063c0106t0004g0042 a0063c0106t0004g0042	1	294	0.0034	180	c.426 others(197): Show c.4269+214_4269+215insCCCCTGCCCCACCTCCCTCCCTCCCTCC CTCCTTCCCTTCCCTCCCCAGTCCCTGTCCAACCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCCTCCCCAGTCCCTGCCCCACCTCCCTCCCT CCCTTCCCTCCCAGGCCCTGCCCCACCTCCCCTCCCTCCATTCCCTCCCC AG	FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	32/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
FHAD1_chr1_15242223_15403328	15388335	C C	CCCCTCCC others(173): Show CCCCTCCCCAGCCCCTGCCCCACCTCCCTCCCTCCCTCCCTCCTTCCCTT CCCTCCCCAGTCCCTGTCCAACCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCCTCCCCAGTCCCTGCCCCACCTCCCTCCCTCCCTTCCCTCC CCAGGCCCTGCCCCACCTCCCTCCCTCCATT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00609.hp1 others(35): Show HG00423.hp2 HG00438.hp2 HG00609.hp1 HG00673.hp1 HG01081.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01261.hp2 HG01433.hp1 HG01516.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02602.hp2 HG02738.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18950.hp1 NA18955.hp1 NA18970.hp2 NA18971.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA19003.hp1 NA19005.hp1 NA19064.hp2 NA19080.hp2 NA19090.hp2	a0002 a0004 a0006 others(7): Show a0002 a0004 a0006 a0008 a0011 a0014 a0019 a0055 a0057 a0064	a0002c0003 a0002c0007 a0002c0019 others(15): Show a0002c0003 a0002c0007 a0002c0019 a0004c0004 a0004c0057 a0004c0096 a0006c0014 a0006c0024 a0006c0045 a0008c0011 a0008c0071 a0011c0029 a0011c0043 a0014c0040 a0019c0022 a0055c0052 a0057c0131 a0064c0049	a0002c0003t0004 a0002c0003t0005 a0002c0003t0053 others(19): Show a0002c0003t0004 a0002c0003t0005 a0002c0003t0053 a0002c0007t0005 a0002c0019t0004 a0004c0004t0004 a0004c0004t0005 a0004c0057t0005 a0004c0096t0002 a0006c0014t0005 a0006c0024t0005 a0006c0045t0004 a0008c0011t0017 a0008c0071t0017 a0011c0029t0017 a0011c0029t0036 a0011c0043t0005 a0014c0040t0005 a0019c0022t0004 a0055c0052t0004 a0057c0131t0005 a0064c0049t0005	a0002c0003t0004g0017 a0002c0003t0004g0044 a0002c0003t0005g0135 others(35): Show a0002c0003t0004g0017 a0002c0003t0004g0044 a0002c0003t0005g0135 a0002c0003t0005g0172 a0002c0003t0005g0177 a0002c0003t0053g0176 a0002c0007t0005g0210 a0002c0007t0005g0212 a0002c0019t0004g0118 a0004c0004t0004g0027 a0004c0004t0004g0029 a0004c0004t0004g0030 a0004c0004t0004g0067 a0004c0004t0004g0073 a0004c0004t0004g0074 a0004c0004t0004g0086 a0004c0004t0004g0116 a0004c0004t0004g0168 a0004c0004t0005g0164 a0004c0004t0005g0173 a0004c0004t0005g0174 a0004c0057t0005g0189 a0004c0096t0002g0033 a0006c0014t0005g0220 a0006c0024t0005g0227 a0006c0045t0004g0170 a0008c0011t0017g0263 a0008c0011t0017g0294 a0008c0071t0017g0291 a0011c0029t0017g0276 a0011c0029t0036g0269 a0011c0043t0005g0012 a0011c0043t0005g0013 a0014c0040t0005g0137 a0019c0022t0004g0022 a0055c0052t0004g0120 a0057c0131t0005g0219 a0064c0049t0005g0236	38	294	0.1293	180	c.426 others(197): Show c.4269+214_4269+215insCCCCTGCCCCACCTCCCTCCCTCCCTCC CTCCTTCCCTTCCCTCCCCAGTCCCTGTCCAACCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCCTCCCCAGTCCCTGCCCCACCTCCCTCCCT CCCTTCCCTCCCCAGGCCCTGCCCCACCTCCCTCCCTCCATTCCCTCCCC AG	FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	32/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
FHIT_chr3_59742277_61256452	59986789	T T	TATATTTA others(173): Show TATATTTATATAAATATATAAATATATAAATATAAATATATTTATATAAA TATATAAATATATAATATAAATATATTTATATAAATATATAAATATATAA TATAAATATATTTATATTATATATTTATATAAATATATTTATATAAATAT ATAAATATAAATATATTTATATAAATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01981.hp1 HG00639.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0030 a0001c0002t0002g0032 a0001c0002t0001g0030 a0001c0002t0002g0032	2	46	0.0435	180	c.279 others(199): Show c.279+24581_279+24582insTATATATTTATATAAATATATTTATA TTTATATATTTATATAAATATATTTATATAAATATATAATATAAATATAT TTATATTATATATTTATATATTTATATAAATATATTTATATTATATATTT ATATATTTATATAAATATATTTATATTTATATATTTATATATTTATATAA ATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	59986789	T T	TATATTTA others(173): Show TATATTTATATAAATATATACATATATAAATATAAATATATTTATATAAA TATATAAATATATAATATAAATATATTTATATAAATATATAAATATATAA TATAAATATATTTATATTATATATTTATATAAATATATTTATATAAATAT ATAAATATAAATATATTTATATAAATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03017.hp1 HG03225.hp2 others(1): Show HG02145.hp2 HG03017.hp1 HG03225.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0012 a0001c0001t0001g0042 a0001c0001t0002g0015 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0042 a0001c0001t0002g0015 a0001c0001t0008g0036	4	46	0.0870	180	c.279 others(199): Show c.279+24581_279+24582insTATATATTTATATAAATATATTTATA TTTATATATTTATATAAATATATTTATATAAATATATAATATAAATATAT TTATATTATATATTTATATATTTATATAAATATATTTATATTATATATTT ATATATTTATATAAATATATTTATATTTATATATGTATATATTTATATAA ATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9			chr3	TogoVar
FLRT2_chr14_85525144_85659428	85615721	T T	TATTTATA others(173): Show TATTTATAACCTATAGTTACGACTGTGGAAATGTGCATAAAATCTATAAA TTGCTTTAGTGTTTCCAGATTTGTAGTGTAGTTAGGCCTGTGGATTATGT ACCTACCTGTGTCTGATTTTTGGCATGAACTGCTTAACTCCAGAAGCTAT AAGTCAGATATGACCCTGGGAAAATTTTCTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(121): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01433.hp1 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18943.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp2 NA18956.hp2 NA18965.hp2 NA18968.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18982.hp2 NA18984.hp2 NA18990.hp1 NA18991.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19066.hp2 NA19074.hp1 NA19077.hp2 NA19082.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0012 a0003c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(109): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0036 a0001c0001t0037 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0173 a0001c0001t0174 a0001c0001t0175 a0001c0001t0176 a0001c0001t0177 a0001c0001t0178 a0001c0001t0179 a0001c0001t0180 a0001c0001t0181 a0001c0001t0182 a0001c0001t0184 a0001c0001t0185 a0001c0001t0186 a0001c0001t0187 a0001c0001t0235 a0001c0001t0267 a0001c0001t0268 a0001c0001t0269 a0001c0001t0270 a0001c0001t0271 a0001c0001t0272 a0001c0001t0273 a0001c0001t0274 a0001c0001t0275 a0001c0001t0276 a0001c0001t0277 a0001c0001t0278 a0001c0001t0279 a0001c0001t0280 a0001c0001t0281 a0001c0001t0282 a0001c0001t0287 a0001c0001t0288 a0001c0001t0290 a0001c0001t0291 a0001c0001t0292 a0001c0001t0293 a0001c0001t0294 a0001c0001t0295 a0001c0001t0296 a0001c0001t0297 a0001c0001t0298 a0001c0001t0299 a0001c0001t0303 a0001c0001t0304 a0001c0001t0305 a0001c0001t0306 a0001c0001t0309 a0001c0001t0310 a0001c0001t0311 a0001c0001t0312 a0001c0003t0019 a0001c0003t0253 a0001c0003t0255 a0001c0003t0256 a0001c0003t0257 a0001c0003t0258 a0001c0003t0259 a0001c0003t0260 a0001c0003t0261 a0001c0003t0262 a0001c0003t0263 a0001c0003t0264 a0001c0003t0265 a0001c0003t0266 a0001c0004t0031 a0001c0004t0032 a0001c0004t0033 a0001c0004t0034 a0001c0004t0112 a0001c0011t0183 a0001c0012t0230 a0003c0007t0252 a0003c0007t0254	a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0085 others(121): Show a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0085 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0168 a0001c0001t0009g0170 a0001c0001t0009g0181 a0001c0001t0010g0276 a0001c0001t0010g0328 a0001c0001t0011g0161 a0001c0001t0011g0166 a0001c0001t0012g0134 a0001c0001t0012g0135 a0001c0001t0013g0190 a0001c0001t0013g0203 a0001c0001t0020g0138 a0001c0001t0020g0153 a0001c0001t0021g0026 a0001c0001t0021g0197 a0001c0001t0022g0025 a0001c0001t0023g0041 a0001c0001t0036g0128 a0001c0001t0037g0297 a0001c0001t0106g0187 a0001c0001t0107g0133 a0001c0001t0108g0186 a0001c0001t0109g0167 a0001c0001t0110g0184 a0001c0001t0111g0001 a0001c0001t0154g0083 a0001c0001t0155g0125 a0001c0001t0156g0043 a0001c0001t0157g0047 a0001c0001t0158g0255 a0001c0001t0159g0011 a0001c0001t0160g0050 a0001c0001t0161g0323 a0001c0001t0162g0235 a0001c0001t0163g0324 a0001c0001t0164g0227 a0001c0001t0165g0143 a0001c0001t0166g0070 a0001c0001t0167g0310 a0001c0001t0168g0003 a0001c0001t0169g0260 a0001c0001t0170g0273 a0001c0001t0171g0337 a0001c0001t0172g0092 a0001c0001t0173g0220 a0001c0001t0174g0124 a0001c0001t0175g0072 a0001c0001t0176g0012 a0001c0001t0177g0173 a0001c0001t0178g0317 a0001c0001t0179g0164 a0001c0001t0180g0280 a0001c0001t0181g0237 a0001c0001t0182g0063 a0001c0001t0184g0142 a0001c0001t0185g0059 a0001c0001t0186g0322 a0001c0001t0187g0321 a0001c0001t0235g0300 a0001c0001t0267g0183 a0001c0001t0268g0152 a0001c0001t0269g0141 a0001c0001t0270g0140 a0001c0001t0271g0230 a0001c0001t0272g0145 a0001c0001t0273g0144 a0001c0001t0274g0289 a0001c0001t0275g0290 a0001c0001t0276g0150 a0001c0001t0277g0147 a0001c0001t0278g0148 a0001c0001t0279g0192 a0001c0001t0280g0093 a0001c0001t0281g0234 a0001c0001t0282g0061 a0001c0001t0287g0228 a0001c0001t0288g0188 a0001c0001t0290g0089 a0001c0001t0291g0224 a0001c0001t0292g0060 a0001c0001t0293g0132 a0001c0001t0294g0174 a0001c0001t0295g0176 a0001c0001t0296g0198 a0001c0001t0297g0218 a0001c0001t0298g0312 a0001c0001t0299g0231 a0001c0001t0303g0178 a0001c0001t0304g0177 a0001c0001t0305g0179 a0001c0001t0306g0062 a0001c0001t0309g0330 a0001c0001t0310g0086 a0001c0001t0311g0335 a0001c0001t0312g0320 a0001c0003t0019g0019 a0001c0003t0019g0306 a0001c0003t0253g0189 a0001c0003t0255g0302 a0001c0003t0256g0113 a0001c0003t0257g0301 a0001c0003t0258g0155 a0001c0003t0259g0024 a0001c0003t0260g0108 a0001c0003t0261g0031 a0001c0003t0262g0030 a0001c0003t0263g0226 a0001c0003t0264g0018 a0001c0003t0265g0298 a0001c0003t0266g0042 a0001c0004t0031g0038 a0001c0004t0032g0091 a0001c0004t0033g0151 a0001c0004t0034g0154 a0001c0004t0112g0007 a0001c0011t0183g0238 a0001c0012t0230g0279 a0003c0007t0252g0055 a0003c0007t0254g0053	124	338	0.3669	180	c.-37 others(199): Show c.-376-5417_-376-5416insTTTATAACCTATAGTTACGACTGTGG AAATGTGCATAAAATCTATAAATTGCTTTAGTGTTTCCAGATTTGTAGTG TAGTTAGGCCTGTGGATTATGTACCTACCTGTGTCTGATTTTTGGCATGA ACTGCTTAACTCCAGAAGCTATAAGTCAGATATGACCCTGGGAAAATTTT CTAA	FLRT2	ENSG00000185070.12	transcript	ENST00000330753.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FLT3_chr13_27998274_28105576	28065648	A A	ATAATAAT others(173): Show ATAATAATAATAATAATAATAATAATAATAATCCAGGTGTGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGC CTAGGAGGTTGAGGCTGAAGTGAGCTATGTTTGTGTCACTGCACTCCAGC CTGGACAACAGAGCGAGATCTTGTCTCAAAG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0223 a0004c0005t0002g0223	1	292	0.0034	180	c.166 others(197): Show c.166-3580_166-3579insCTTTGAGACAAGATCTCGCTCTGTTGTC CAGGCTGGAGTGCAGTGACACAAACATAGCTCACTTCAGCCTCAACCTCC TAGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCACACCTGGATTATTATTATTATTATTATTATTATTAT TA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding	2/23			chr13	TogoVar
FLT3_chr13_27998274_28105576	28065648	A A	ATAATAAT others(173): Show ATAATAATAATAATAATAATAATAATAATAATCCAGGTGTGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGC CTAGGAGGTTGAGGCTGAAGTGAGCTATGTTTGTGTCACTGCACTCCAGC CTGGACAACGGAGCGAGATCTTGTCTCAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(121): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02895.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18986.hp2 NA18991.hp2 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0007 a0012 a0014 a0015 a0022 a0023 a0024	a0001c0001 a0001c0004 a0001c0012 others(15): Show a0001c0001 a0001c0004 a0001c0012 a0001c0029 a0002c0002 a0003c0003 a0004c0005 a0004c0006 a0004c0046 a0004c0047 a0004c0048 a0007c0015 a0012c0045 a0014c0031 a0015c0037 a0022c0027 a0023c0036 a0024c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0012t0001 a0001c0029t0005 a0002c0002t0001 a0002c0002t0002 a0003c0003t0002 a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0004c0005t0008 a0004c0006t0001 a0004c0006t0002 a0004c0006t0003 a0004c0006t0007 a0004c0046t0005 a0004c0047t0002 a0004c0048t0001 a0007c0015t0001 a0007c0015t0002 a0012c0045t0001 a0014c0031t0004 a0015c0037t0002 a0022c0027t0001 a0023c0036t0001 a0024c0032t0002	a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0032 others(121): Show a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0110 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0169 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0112 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0159 a0001c0001t0002g0164 a0001c0001t0002g0173 a0001c0001t0003g0048 a0001c0001t0003g0094 a0001c0004t0001g0010 a0001c0004t0001g0026 a0001c0004t0001g0043 a0001c0004t0001g0068 a0001c0004t0001g0078 a0001c0004t0001g0079 a0001c0004t0001g0100 a0001c0004t0001g0138 a0001c0004t0001g0148 a0001c0004t0001g0178 a0001c0004t0002g0011 a0001c0004t0002g0027 a0001c0004t0002g0072 a0001c0004t0002g0098 a0001c0004t0002g0104 a0001c0004t0002g0105 a0001c0004t0002g0111 a0001c0004t0002g0132 a0001c0004t0002g0139 a0001c0004t0002g0149 a0001c0004t0006g0144 a0001c0004t0006g0163 a0001c0012t0001g0018 a0001c0012t0001g0019 a0001c0012t0001g0147 a0001c0029t0005g0092 a0002c0002t0001g0061 a0002c0002t0002g0012 a0003c0003t0002g0253 a0004c0005t0001g0206 a0004c0005t0001g0215 a0004c0005t0001g0232 a0004c0005t0001g0252 a0004c0005t0001g0254 a0004c0005t0001g0263 a0004c0005t0001g0266 a0004c0005t0001g0271 a0004c0005t0002g0198 a0004c0005t0002g0204 a0004c0005t0002g0205 a0004c0005t0002g0231 a0004c0005t0002g0235 a0004c0005t0002g0243 a0004c0005t0002g0251 a0004c0005t0002g0264 a0004c0005t0003g0281 a0004c0005t0008g0001 a0004c0006t0001g0211 a0004c0006t0001g0212 a0004c0006t0001g0283 a0004c0006t0002g0213 a0004c0006t0002g0234 a0004c0006t0002g0244 a0004c0006t0003g0247 a0004c0006t0007g0002 a0004c0046t0005g0278 a0004c0047t0002g0282 a0004c0048t0001g0238 a0007c0015t0001g0054 a0007c0015t0002g0171 a0012c0045t0001g0220 a0014c0031t0004g0153 a0015c0037t0002g0270 a0022c0027t0001g0157 a0023c0036t0001g0214 a0024c0032t0002g0066	124	292	0.4247	180	c.166 others(197): Show c.166-3580_166-3579insCTTTGAGACAAGATCTCGCTCCGTTGTC CAGGCTGGAGTGCAGTGACACAAACATAGCTCACTTCAGCCTCAACCTCC TAGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCACACCTGGATTATTATTATTATTATTATTATTATTAT TA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding	2/23			chr13	TogoVar
FLT4_chr5_180596506_180654600	180635201	G G	GGTGGATG others(173): Show GGTGGATGGAAGTATGGGTGGATGGGAGGGTGGGTGGATGCATGGATGGA TGGAAGTATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGCATGGATG GATGGAAGTATGGGTGGATGGGTGGGTGGATGGAAGTATGGGTGGATGGG TGGATGGGTGGGTGGGTGGGTGGATGGATGC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0254 a0002c0002t0001g0254	1	388	0.0026	180	c.59- others(195): Show c.59-3424_59-3423insGCATCCATCCACCCACCCACCCACCCATCC ACCCATCCACCCATACTTCCATCCACCCACCCATCCACCCATACTTCCAT CCATCCATGCATCCATCCACCCACCCACCCATCCATCCACCCATACTTCC ATCCATCCATGCATCCACCCACCCTCCCATCCACCCATACTTCCATCCAC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FMN1_chr15_32760544_33199714	32949978	T T	TATATATA others(173): Show TATATATATATATATACACATATATATATATATATATATACACATATATA TATATATATATATATACACATATATATATATATATATATATACACATATA TATATATATATATATACACATATATATATATACACATATATATATACACA TACACATATATATATACACATATATATATAC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0022 a0001c0001t0037g0022	1	196	0.0051	180	c.313 others(201): Show c.3138+14128_3138+14129insGTATATATATATGTGTATATATAT ATGTGTATGTGTATATATATATGTGTATATATATATATGTGTATATATAT ATATATATATATGTGTATATATATATATATATATATATGTGTATATATAT ATATATATATATATGTGTATATATATATATATATATATGTGTATATATAT ATATAT	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20			chr15	TogoVar
FOXN3_chr14_89151177_89422233	89361563	C C	CACCACCA others(173): Show CACCACCACCACCACCACCACCACCTCCACCACCACCACCTCCACCACCA CCACCACTACCACCACCACCACCACCACCACCACCACCACCACCACTACC ACCACCACCACCACCACCACCACCACCACCACCACTACCACCACCACCTC CACCACCACCACCTCCACCACCACCACCACT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0043 a0001c0001t0022g0043	1	230	0.0044	180	c.544 others(199): Show c.544-10756_544-10755insAGTGGTGGTGGTGGTGGAGGTGGTGG TGGTGGAGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGT GGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGG TGGT	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361919	C C	CCACCTCC others(173): Show CCACCTCCAGCACCACCTCCACCACCACCTCCACCACCACCACCTCCAGC ACCACCTCCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAC CACCACCTCCACCACTACCACCTCCACCACCACCACCTCCACCACCACCT CCACCACCACCTCCACCACCACCACCTCCAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0090 a0001c0001t0024g0090	1	230	0.0044	180	c.544 others(199): Show c.544-11112_544-11111insCTGGAGGTGGTGGTGGTGGAGGTGGT GGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTAGTGGTGGAGG TGGTGGTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAG GTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGA GGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXP1_chr3_70949708_71588728	71396955	T T	TATATATA others(173): Show TATATATATACACACATATATATGTGTGTATATATATATATACACATATA TATATGTGTGTATATATATATACACATATATATGTGTATATATATATACA TATATATGTGTATATATACACACATATATATATGTGTATATATATATACA CACATATATATATGTGTATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02132.hp2 NA21309.hp2 HG01071.hp2 HG02132.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0032 a0001c0001t0049 a0001c0001t0002 a0001c0001t0032 a0001c0001t0049	a0001c0001t0002g0080 a0001c0001t0032g0089 a0001c0001t0049g0070 a0001c0001t0002g0080 a0001c0001t0032g0089 a0001c0001t0049g0070	3	96	0.0313	180	c.-16 others(201): Show c.-167-37712_-167-37711insGTGTATATATATATACACATATAT ATATGTGTGTATATATATATACACATATATATATGTGTGTATATATACAC ATATATATGTATATATATATACACATATATATGTGTATATATATATACAC ACATATATATATGTGTATATATATATATACACACATATATATGTGTGTAT ATATAT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71396955	T T	TATATATA others(173): Show TATATATATACACACATATATATGTGTGTATATATATATATACACATATA TATGTGTGTATATATATATACACATATATATGTGTATATATATATACATA TATATGTGTATATATATATACATATATATATGTGTATATATATATATACA CACATATATATATGTGTGTATATATATACAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0084 a0001c0001t0052g0084	1	96	0.0104	180	c.-16 others(201): Show c.-167-37712_-167-37711insGTGTATATATATACACACATATAT ATATGTGTGTATATATATATATACACATATATATATGTATATATATATAC ACATATATATGTATATATATATACACATATATATGTGTATATATATATAC ACACATATATATGTGTATATATATATATACACACATATATATGTGTGTAT ATATAT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71396955	T T	TATATATA others(173): Show TATATATATATACACACATATATATGTGTGTATATATATATATACACATA TATATATGTGTGTATATATATATACACATATATATGTGTATATATATACA TATATATGTGTATATATACACACATATATATATGTGTATATATATATACA CACATATATATATGTGTATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0083 a0001c0001t0026g0083	1	96	0.0104	180	c.-16 others(201): Show c.-167-37712_-167-37711insGTGTATATATATATACACATATAT ATATGTGTGTATATATATATACACATATATATATGTGTGTATATATACAC ATATATATGTATATATATACACATATATATGTGTATATATATATACACAC ATATATATATGTGTATATATATATATACACACATATATATGTGTGTATAT ATATAT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FRMPD1_chr9_37645954_37751904	37683763	A A	AAGTTGGC others(173): Show AAGTTGGCGGGTAGGCAGGGCCAGATCACAAAAGGCTTTGGGGGGAACGA CAGGTAATACAGTTCTGCAGAGTGTTGTGTGAGGGAGATGAAGTTGGCGG GTAGGCAGGGCCAGATCACAAAAGGCTTTGGGGGGAACGACAGGTAATAC AGTTCTGCAGAGTGTTGTGTGAGGGAGATGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01891.hp1 HG02615.hp1 others(4): Show HG01496.hp1 HG01891.hp1 HG02615.hp1 HG02622.hp2 HG03195.hp2 HG03471.hp1 HG06807.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0001c0045 a0006c0014 a0001c0003 a0001c0045 a0006c0014	a0001c0003t0001 a0001c0045t0001 a0006c0014t0001 a0001c0003t0001 a0001c0045t0001 a0006c0014t0001	a0001c0003t0001g0190 a0001c0003t0001g0213 a0001c0045t0001g0037 others(4): Show a0001c0003t0001g0190 a0001c0003t0001g0213 a0001c0045t0001g0037 a0006c0014t0001g0032 a0006c0014t0001g0036 a0006c0014t0001g0179 a0006c0014t0001g0191	7	334	0.0210	180	c.-4- others(195): Show c.-4-8815_-4-8814insGTTCTGCAGAGTGTTGTGTGAGGGAGATGA AGTTGGCGGGTAGGCAGGGCCAGATCACAAAAGGCTTTGGGGGGAACGAC AGGTAATACAGTTCTGCAGAGTGTTGTGTGAGGGAGATGGAGTTGGCGGG TAGGCAGGGCCAGATCACAAAAGGCTTTGGGGGGAACGACAGGTAATACA	FRMPD1	ENSG00000070601.10	transcript	ENST00000377765.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
FRMPD4_chrX_12133473_12729523	12332026	A A	ATATATAT others(173): Show ATATATATTTATATACTATATATAAATATATATATTTATATACTATATAT AAATTATATATATTTATATACTATATATAAATTATATAATTTATATACTA TATATAAATTATATATATTTATATACTATATATAAATTATATATATTATA TATTTATATACTATATATAAATTATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0046 a0002c0004t0001g0046	1	174	0.0058	180	c.42- others(199): Show c.42-166628_42-166627insATATATATTTATATACTATATATAAA TTATATATATTTATATACTATATATAAATTATATAATTTATATACTATAT ATAAATTATATATATTTATATACTATATATAAATTATATATATTATATAT TTATATACTATATATAAATTATATATATTATATATTTATATACTATATAT AAAT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FTCD_chr21_46131779_46160579	46134701	G G	GAGGGTGA others(173): Show GAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGA GGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGG GTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGT GAGGGTGAGGGTGAGGGTGAGGGTGAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0051 a0001c0003t0003g0051	1	230	0.0044	180	c.22 others(191): Show c.2285_*2286insGACCCTCACCCTCACCCTCACCCTCACCCTCACC CTCACCCTCACCCTGACCCTCACCCTAAACCTGACCCTGACCCTGACCCT GACCCTAAACCTGACCCTAAACCTGACCCTGACCCTAAACCTGACCCTCA CCCTGACCCTGACCCTGACCCTAAACCTGACCCTCACCCTCACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2077		chr21	TogoVar
GALNS_chr16_88808734_88861947	88831567	A A	AGGAGAGC others(173): Show AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAG GCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGT GCGTGGGGGGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGA GCGGTGAGGCCGAGCACGGGGTGCGTGGGGG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0096	1	404	0.0025	180	c.100 others(197): Show c.1002+430_1002+431insCCCCCACGCACCCCGTGCTCGGCCTCAC CGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCCCCCCA CGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTC GGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCT CC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831607	G G	GAGCGGTG others(173): Show GAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCG AGCACGGGGTGCGTGGGGAGGACAGCGGTGAGGCGGAGCACGGGGTGCGT GGGGAGGAGAGCGGTGAGGCGGAGCACGGGGTGCGTGGGGAGGAGAGCGG TGAGGCCGAGCACGGGGTGCGTGGGGAGGAC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0056 a0001c0004t0001g0056	1	404	0.0025	180	c.100 others(197): Show c.1002+390_1002+391insGTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCACGCACCCCGTGCTCCGCCTCACCGCTCTCCTC CCCACGCACCCCGTGCTCCGCCTCACCGCTGTCCTCCCCACGCACCCCGT GCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCG CT	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831751	G G	GAGCGGTG others(173): Show GAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGACAGCGGTGAGGCCG AGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGT GGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGG TGAGGCCGAGCACGGGGTGCGTGGGGAGGAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18522.hp2 HG01167.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0290 a0001c0001t0001g0164 a0001c0001t0001g0290	2	404	0.0050	180	c.100 others(197): Show c.1002+246_1002+247insGTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTC CCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGT GCTCGGCCTCACCGCTGTCCTCCCCACGCACCCCGTGCTCGGCCTCACCG CT	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831751	G G	GAGCGGTG others(173): Show GAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCG AGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGT GGGGAGGAGAGCGGTGAGGCGGAGCACGGGGTGCGTGGGGAGGAGAGCGG TGAGGCCGAGCACGGGGTGCGTGGGGAGGAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01975.hp2 HG01981.hp1 others(4): Show HG00423.hp1 HG01975.hp2 HG01981.hp1 HG02293.hp2 HG02300.hp1 HG03669.hp1 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0021 a0001c0002 a0001c0021	a0001c0002t0002 a0001c0021t0001 a0001c0002t0002 a0001c0021t0001	a0001c0002t0002g0071 a0001c0002t0002g0074 a0001c0002t0002g0075 others(4): Show a0001c0002t0002g0071 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0094 a0001c0002t0002g0137 a0001c0002t0002g0145 a0001c0021t0001g0222	7	404	0.0173	180	c.100 others(197): Show c.1002+246_1002+247insGTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCACGCACCCCGTGCTCCGCCTCACCGCTCTCCTC CCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGT GCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCG CT	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNT9_chr12_132191372_132334589	132240869	G G	GTCCCTAT others(173): Show GTCCCTATACCCATTACACACACACCACACACCCTTCCCGGGGCCCTCCC TATCCCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATAC CCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATT ACACACACAACACACACCCTTCCAGGGGCCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02083.hp2 HG00673.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0062 a0001c0001t0001g0011 a0001c0001t0001g0062	2	183	0.0109	180	c.107 others(199): Show c.1077+6861_1077+7040dupGGGCCCCTGGAAGGGTGTGTGTTGTG TGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGT AATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGG GGATAGGGAGGGCCCCGGGAAGGGTGTGTGGTGTGTGTGTAATGGGTATA GGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132240869	G G	GTCCCTAT others(173): Show GTCCCTATACCCATTACACACACACCACACACCCTTCCCGGGGCCCTCCC TATCCCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATAC CCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATCCCCATT ACACACACGCCACACCCCCTTCCCGGGGCCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0002 a0002c0032t0002	a0002c0032t0002g0167 a0002c0032t0002g0167	1	183	0.0055	180	c.107 others(199): Show c.1077+7040_1077+7041insGGGCCCCGGGAAGGGGGTGTGGCGTG TGTGTAATGGGGATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGT AATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGG GGATAGGGAGGGCCCCGGGAAGGGTGTGTGGTGTGTGTGTAATGGGTATA GGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241237	A A	ACACATTA others(173): Show ACACATTACACACACACCACACCCCCTTCCCAGGGCCCTCCCTATCCCCA TTACACACACACCACACCCCCTTCCCAGGGCCCTCCCTATCCCCATTACA CACACAACACACACCCTTCCCGGGGCCCTCCCTATACACATTACACACAC GCCACACCCCCTTCCCAGGGCCCTCCCTATC	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA18522.hp1 HG00733.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0027 a0001c0002t0001g0068 a0001c0001t0001g0027 a0001c0002t0001g0068	2	183	0.0109	180	c.107 others(199): Show c.1077+6672_1077+6673insGATAGGGAGGGCCCTGGGAAGGGGGT GTGGCGTGTGTGTAATGTGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTT GTGTGTGTAATGGGGATAGGGAGGGCCCTGGGAAGGGGGTGTGGTGTGTG TGTAATGGGGATAGGGAGGGCCCTGGGAAGGGGGTGTGGTGTGTGTGTAA TGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241477	G G	GCCACACA others(173): Show GCCACACACCCTTCCCAGAGCCGTCCCTATACCCATTACACACACGCCAC ACACCCTTCCCGGGGCCATCCCTATACCCATTACACACACACCACACACC CTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCC CAGGGCCATCCCTATACCCATTACACACACA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0008 a0001c0005t0001g0008	1	183	0.0055	180	c.107 others(199): Show c.1077+6432_1077+6433insTGTGTGTGTAATGGGTATAGGGATGG CCCTGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCT GGAAGGGTGTGTGGTGTGTGTGTAATGGGTATAGGGATGGCCCCGGGAAG GGTGTGTGGCGTGTGTGTAATGGGTATAGGGACGGCTCTGGGAAGGGTGT GTGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241889	C C	CCCCTTCC others(173): Show CCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCT TCCCGGAGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCCAG GGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCC CTCCCTATACCCATTACACACACACCACACA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18980.hp1 NA18747.hp2 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0070 a0001c0004t0001g0056 a0001c0002t0001g0070 a0001c0004t0001g0056	2	183	0.0109	180	c.107 others(199): Show c.1077+6020_1077+6021insTGTGTGGTGTGTGTGTAATGGGTATA GGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAG GGCCCCTGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCTC CGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGA AGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242018	C C	CCACACAC others(173): Show CCACACACCCTTCCCGGAGCCCTCCCTATACGCATTACACACACGCCACA CACCCTTCCAGGGGCCCTCCCTATACCCATTACACACACAACACACACCC TTCCCGGAGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCC GGGGCCCTCCCTATACCCATTACACACACAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0047 a0001c0018t0001g0047	1	183	0.0055	180	c.107 others(199): Show c.1077+5891_1077+5892insTTGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCTCC GGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAA GGGTGTGTGGCGTGTGTGTAATGCGTATAGGGAGGGCTCCGGGAAGGGTG TGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242114	C C	CCCCTTCC others(173): Show CCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACGCCCCCT TCCCGGGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCCG GGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGGGCC CTCCCTATACCCATTACACACACAACACACA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0076 a0001c0004t0001g0076	1	183	0.0055	180	c.107 others(199): Show c.1077+5795_1077+5796insTGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAG GGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCC CGGGAAGGGGGCGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGA AGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242444	C C	CTCCCTAT others(173): Show CTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGGGCCCTCCC TATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCTATAC CCATTACACACACACCACACCCCCTTCCCGGGGCCCTCCCTATACCCATT ACACACACAACACACCCCCTTCCCGGGGCCT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0179 a0001c0012t0002g0179	1	183	0.0055	180	c.107 others(199): Show c.1077+5465_1077+5466insAGGCCCCGGGAAGGGGGTGTGTTGTG TGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGTGTGT AATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGG GTATAGGGAGGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATA GGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242558	C C	CCACACCC others(173): Show CCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACA CCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACACAC TTCCCGGAGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCA GGGGCCCTCCCTATACCCATTACACACACAA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0169 a0001c0009t0002g0169	1	183	0.0055	180	c.107 others(199): Show c.1077+5351_1077+5352insTTGTGTGTGTAATGGGTATAGGGAGG GCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCTCC GGGAAGTGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGG TGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242752	C C	CGGGGCCC others(173): Show CGGGGCCCTCCCTATACCCATTACACACACAACACACACACTTCCCGGAG CCCTCCCTATACCCATTACACACACGCCACACACCCTTCCAGGGGCCCTC CCTATACCCATTACACACACAACACACCCCCTTCCCGGGGCCTTCCCTAT ACCCATTACACACACGCCACACCCCCTTCCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19011.hp1 HG02257.hp2 NA19011.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0030 a0001c0003t0001g0162 a0001c0003t0001g0030 a0001c0003t0001g0162	2	183	0.0109	180	c.107 others(199): Show c.1077+5157_1077+5158insTGGAAGGGGGTGTGGCGTGTGTGTAA TGGGTATAGGGAAGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGGT ATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGG GAGGGCTCCGGGAAGTGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGG CCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242804	T T	TTCCCTAT others(173): Show TTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCC TATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATAC CCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATT ACACACACGCCACACCCCCTTCCCGGGGCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp2 HG03017.hp2 HG00140.hp2 HG01106.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0042 a0001c0001t0001g0117 a0001c0001t0001g0122	3	183	0.0164	180	c.107 others(199): Show c.1077+5105_1077+5106insGGGCCCCGGGAAGGGGGTGTGGCGTG TGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGT AATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGG GTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATA GGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242924	A A	ACCCTTCC others(173): Show ACCCTTCCCGGAGCCCCCCCTATACCCATTACACACACGCCACACCCCCT TCCAGGGGCCCTCCCTATACCCATTACACACACAACACACCCCCTTCCCG GGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCAGGGGCC CTCCCTATACCCATTACACACACGCCACACC	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18953.hp1 HG02895.hp1 NA18953.hp1	a0001 a0001	a0001c0004 a0001c0035 a0001c0004 a0001c0035	a0001c0004t0001 a0001c0035t0009 a0001c0004t0001 a0001c0035t0009	a0001c0004t0001g0121 a0001c0035t0009g0140 a0001c0004t0001g0121 a0001c0035t0009g0140	2	183	0.0109	180	c.107 others(199): Show c.1077+4985_1077+4986insGGTGTGGCGTGTGTGTAATGGGTATA GGGAGGGCCCCTGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAG GGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCC CTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGGGGGCTCCGGGA AGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132243014	C C	CCCCTTCC others(173): Show CCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCT TCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCG GGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCC CTCCCTATACCCATTACACACACGCCACACA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	183	0.0055	180	c.107 others(199): Show c.1077+4716_1077+4895dupTGTGTGGCGTGTGTGTAATGGGTATA GGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAG GGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCC CGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGA AGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132243067	C C	CGGGGCCC others(173): Show CGGGGCCCTCCCTATACCCATTACACACACAACACACCCCCTTCCCGGGG CCCTCCCTATCCCCATTACACACACAACACACCCCCTTCCCGGGGCCCTC CCTATACCCATTACACACACACCACACCCCCTTCCCGGGGCCCTCCCTAT CCCCATTACACACACAACACACCCCCTTCCA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0103 a0001c0003t0001g0103	1	183	0.0055	180	c.107 others(199): Show c.1077+4842_1077+4843insTGGAAGGGGGTGTGTTGTGTGTGTAA TGGGGATAGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGTGTGTAATGGGT ATAGGGAGGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGGGATAGG GAGGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGG CCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GK_chrX_30648423_30736462	30663964	T T	TATATATA others(173): Show TATATATATTTTATATATATCTATATATATTTTATAGATATATATTTTAT ATATATCTATATATATTTTATAGATATATATTTTATATATATCTATATAT ATTTTATAGATATATATTTTATATATATCTATATATATTTTATAGATATA TATTTTATATATATCTATATATATTTTATAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	286	0.0035	180	c.79- others(195): Show c.79-1387_79-1386insTATCTATATATATTTTATAGATATATATTT TATATATATCTATATATATTTTATAGATATATATTTTATATATATCTATA TATATTTTATAGATATATATTTTATATATATCTATATATATTTTATAGAT ATATATTTTATATATATCTATATATATTTTATAGATATATATTTTATATA	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GK_chrX_30648423_30736462	30664103	T T	TTATAGAT others(173): Show TTATAGATATATATTTTATATATATCTATATATATTGTATAGATATATAT TTTATATATATCTATATATATTGTATAGATATATATTTTATATATATCTA TATATATTTTATAGATATATATTTTATATATATCTATATATATTTTATAG ATATATATTTTATATATATCTATATATATTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	286	0.0035	180	c.79- others(195): Show c.79-1387_79-1386insTATCTATATATATTGTATAGATATATATTT TATATATATCTATATATATTGTATAGATATATATTTTATATATATCTATA TATATTTTATAGATATATATTTTATATATATCTATATATATTTTATAGAT ATATATTTTATATATATCTATATATATTGTATAGATATATATTTTATATA	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLB1L2_chr11_134326988_134381324	134369530	C C	CAGGTGTG others(173): Show CAGGTGTGAGCCACTGCACAAGCGATCCTCCTGCCTTGGCCTCCCAAAGT GCTGGGATTATAGGTGTGAGCCACTGCACAAGCGATCCTCCTGCCTTGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACAAGCGATCCTC CTGCCTTGGCCTCCCAAAGTGCTGGGATTAT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	414	0.0024	180	c.102 others(197): Show c.1028-217_1028-216insATAGGTGTGAGCCACTGCACAAGCGATC CTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGC ACAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGT GAGCCACTGCACAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGA TT	GLB1L2	ENSG00000149328.16	transcript	ENST00000535456.7	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr11	TogoVar

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