Joint Open Genome and Omics Platform (JoGo)

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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
ACSF3_chr16_89088852_89161233	89157661	C C	CATATGTC others(217): Show CATATGTCACATGTATGTGTATCTCACATGCCTGCATGTCACATGTATGT GTATCTCACACGCCTGCATACACCACAGGTATGTATGTCACACGCCTGCA TATGTCACATGTATGTGTCTCGCACGCCTGCATAAGTCACATGCATGTGT GTCACGCCTGCATACACCACAGGTATGTATGTCTCACGCCTGCATGTCAC ATGTATGTATATCACACGCCTGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0307 a0004c0004t0003g0307	1	368	0.0027	224	c.34 others(235): Show c.3454_*3455insATATGTCACATGTATGTGTATCTCACATGCCTGC ATGTCACATGTATGTGTATCTCACACGCCTGCATACACCACAGGTATGTA TGTCACACGCCTGCATATGTCACATGTATGTGTCTCGCACGCCTGCATAA GTCACATGCATGTGTGTCACGCCTGCATACACCACAGGTATGTATGTCTC ACGCCTGCATGTCACATGTATGTATATCACACGCCTGCAT	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding		1429		chr16	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(217): Show GGGGAGGGAAGGAAAGGAGAGATGGGAGGGAGGGAAGGAAAGGAGGGATG GGAGGGTGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGAGAAGGAAAGGA TGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAAG GAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAG GGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0101 a0004c0003t0001g0101	1	228	0.0044	224	c.259 others(245): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCC ATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTC CCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100292165	G G	GGGAGTCA others(217): Show GGGAGTCACGAGAGACGCTCACCCCGTGGGGAGTCACGAGAGACGCTCAC CCCGTGGGGAGTCACGAGACACGCTCACCCCGTGGGGAGTCACGAGAGAC GCTCACCCCGTGGGGAGTCACGAGAGACGCTCAGCCCGTGGGGAGTCACG AGAGACGCTCACCCCGTGGGGAGTCACGAGAGACGCTCACCCCGTGGGGA GTCACGAGAGACGCTCAGCCCGTGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02080.hp1 HG02129.hp2 others(2): Show HG00408.hp1 HG02080.hp1 HG02129.hp2 HG02293.hp1 NA18943.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0001c0005 a0003c0009 others(2): Show a0001c0002 a0001c0005 a0003c0009 a0003c0012 a0005c0026	a0001c0002t0011 a0001c0005t0004 a0003c0009t0003 others(2): Show a0001c0002t0011 a0001c0005t0004 a0003c0009t0003 a0003c0012t0001 a0005c0026t0058	a0001c0002t0011g0160 a0001c0005t0004g0104 a0003c0009t0003g0043 others(2): Show a0001c0002t0011g0160 a0001c0005t0004g0104 a0003c0009t0003g0043 a0003c0012t0001g0131 a0005c0026t0058g0109	5	228	0.0219	224	c.617 others(243): Show c.617-10765_617-10764insTCACGGGCTGAGCGTCTCTCGTGACT CCCCACGGGGTGAGCGTCTCTCGTGACTCCCCACGGGGTGAGCGTCTCTC GTGACTCCCCACGGGCTGAGCGTCTCTCGTGACTCCCCACGGGGTGAGCG TCTCTCGTGACTCCCCACGGGGTGAGCGTGTCTCGTGACTCCCCACGGGG TGAGCGTCTCTCGTGACTCCCCACGGGGTGAGCGTCTCTCGTGACTCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	3/21			chr15	TogoVar
ADGRE3_chr19_14614117_14679844	14620388	A A	ACATGTAT others(217): Show ACATGTATATATGAATATATATGTATATTCATGTATATATGAATATATAT GTATATTCATGTATATATGAATATATATGTATATTCATGTATATATGAAT ATATATGTATATTCATGTATATATGAATATATATGTATATTCATGTATAT ATGAATATATATGTATATTCATGTATATATGAATATATATGTATATTCAT GTATATATGAATATATATGTATATT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01891.hp2 HG02015.hp2 others(3): Show HG00673.hp1 HG01891.hp2 HG02015.hp2 HG02602.hp1 HG03831.hp2 NA18980.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0008 a0001c0001 a0002c0003 a0006c0008	a0001c0001t0001 a0002c0003t0001 a0006c0008t0001 a0001c0001t0001 a0002c0003t0001 a0006c0008t0001	a0001c0001t0001g0151 a0002c0003t0001g0288 a0002c0003t0001g0331 others(3): Show a0001c0001t0001g0151 a0002c0003t0001g0288 a0002c0003t0001g0331 a0002c0003t0001g0343 a0006c0008t0001g0208 a0006c0008t0001g0222	6	372	0.0161	224	c.192 others(241): Show c.1921-918_1921-917insAATATACATATATATTCATATATACATG AATATACATATATATTCATATATACATGAATATACATATATATTCATATA TACATGAATATACATATATATTCATATATACATGAATATACATATATATT CATATATACATGAATATACATATATATTCATATATACATGAATATACATA TATATTCATATATACATGAATATACATATATATTCATATATACATG	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	15/15			chr19	TogoVar
AGBL4_chr1_48527854_50028954	49947952	A A	ATATATAT others(217): Show ATATATATATAAATATATATATTTATAAATATATATATTTATATATATAA ATATATATATTTATAAATATATATATTTATATATATAAATATATATATTT ATAAATATATATATTTATATATATAAATATATATATTTATAAATATATAT TTATATATATAAATATATATATTTATAAATATATATTTATATATATAAAT ATATATATTTATAAATATATATATT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	104	0.0096	224	c.34+ others(241): Show c.34+75810_34+75811insAATATATATATTTATAAATATATATATT TATATATATAAATATATATTTATAAATATATATATTTATATATATAAATA TATATTTATAAATATATATATTTATATATATAAATATATATATTTATAAA TATATATATTTATATATATAAATATATATATTTATAAATATATATATTTA TATATATAAATATATATATTTATAAATATATATATTTATATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGGF1_chr5_77025404_77070234	77043187	C C	CCCCCCCA others(217): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGTCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	438	0.0023	224	c.871 others(241): Show c.871-2946_871-2945insGGGGGGCTGACCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG AGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGG GGTCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	344423	A A	ATGTGTGA others(217): Show ATGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTG TGTGTGCGCGGGGGGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGGC TGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAGGCTG TGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGG GGAGCTGTGTGTGTGTGGGTGTGTG	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18747.hp1 HG03710.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0051 a0002c0002t0001 a0002c0002t0051	a0002c0002t0001g0101 a0002c0002t0051g0097 a0002c0002t0001g0101 a0002c0002t0051g0097	2	268	0.0075	224	c.62+ others(237): Show c.62+538_62+539insTGTGTGTGTGTGTGTGAGGCTGTGTGTGCGCG GGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAGGCTGTGGGGGGCTGTG TGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGT GTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTG TGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	424365	G G	GGGGTGTT others(217): Show GGGGTGTTAACCCATGTGTCTCTGGTGGGTGGGAGAGGGCTGGGCACTGA GCTCTGTGTACCCTGTGATGGTGTGGGGGTGTTAACCCATGTGTCTCTGG TGGGTGGGAGAGGGCTGGGCACTGAGCTCTGTGCACCCTGTGATGGTGTG GGGGTGTTAACCCATGTGTCCCTGGTGGGTGGGAGAGGGCCGGTGCTGAG CTCTGTGTACCCTGTGATGGTGTGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp1 HG02647.hp1 HG03225.hp1	a0012 a0014 a0012 a0014	a0012c0014 a0014c0012 a0012c0014 a0014c0012	a0012c0014t0020 a0014c0012t0020 a0012c0014t0020 a0014c0012t0020	a0012c0014t0020g0035 a0014c0012t0020g0239 a0012c0014t0020g0035 a0014c0012t0020g0239	2	268	0.0075	224	c.708 others(239): Show c.708+407_708+408insTCTGGTGGGTGGGAGAGGGCTGGGCACTGA GCTCTGTGTACCCTGTGATGGTGTGGGGGTGTTAACCCATGTGTCTCTGG TGGGTGGGAGAGGGCTGGGCACTGAGCTCTGTGCACCCTGTGATGGTGTG GGGGTGTTAACCCATGTGTCCCTGGTGGGTGGGAGAGGGCCGGTGCTGAG CTCTGTGTACCCTGTGATGGTGTGAGGGTGTTAACCCATGTGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	424436	A A	ATGGGGGT others(217): Show ATGGGGGTGTTAACCCATGTGTCTCTGGTAGGTGGGAGAGGGCTGGGCAC TGAGCTCTGTGTACCCTGTGATGGTGTGGGGGTGTTAACCCATGTGTCTC TGGTGGGGGGGCGAGGGCCGGTGCTGAGCTCTGTGCACCCTGTGATGGTA TGGGGGTGTTAACCCATGTGTCTCTGGTAGGTGGGAGAGGGCTGGGCACT GAGCTCTGTGCACCCTGTGATGGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00735.hp1 others(23): Show HG00140.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG02293.hp1 HG02683.hp2 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03834.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0012 a0003c0004t0028 others(2): Show a0003c0004t0004 a0003c0004t0012 a0003c0004t0028 a0003c0004t0053 a0003c0004t0054	a0003c0004t0004g0002 a0003c0004t0004g0003 a0003c0004t0004g0004 others(21): Show a0003c0004t0004g0002 a0003c0004t0004g0003 a0003c0004t0004g0004 a0003c0004t0004g0005 a0003c0004t0004g0009 a0003c0004t0004g0011 a0003c0004t0004g0014 a0003c0004t0004g0081 a0003c0004t0004g0093 a0003c0004t0004g0164 a0003c0004t0004g0169 a0003c0004t0004g0180 a0003c0004t0004g0183 a0003c0004t0004g0185 a0003c0004t0004g0200 a0003c0004t0004g0204 a0003c0004t0012g0001 a0003c0004t0012g0110 a0003c0004t0012g0168 a0003c0004t0012g0195 a0003c0004t0028g0006 a0003c0004t0028g0217 a0003c0004t0053g0198 a0003c0004t0054g0165	26	268	0.0970	224	c.708 others(239): Show c.708+487_708+488insAGGTGGGAGAGGGCTGGGCACTGAGCTCTG TGTACCCTGTGATGGTGTGGGGGTGTTAACCCATGTGTCTCTGGTGGGGG GGCGAGGGCCGGTGCTGAGCTCTGTGCACCCTGTGATGGTATGGGGGTGT TAACCCATGTGTCTCTGGTAGGTGGGAGAGGGCTGGGCACTGAGCTCTGT GCACCCTGTGATGGTGTGGGGGTGTTAACCCATGTGTCTCTGGT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	436269	C C	CCCCGCTG others(217): Show CCCCGCTGCACTGTGCATTGTGCCTCCCGTGTGGACGCCCTCTCTGTTGT TGGCCCGCGGGTGAGGGACCCACCACCCCGCTGCACTGTGCATTGTGCCT CCCGTGTGGACGCCCTCTCTGTTGTTGGCCCGCGGGTGAGGGACCCACCA CCCCGCTGCACTGTGCATTCTGCCTCCTGTGTGGACGCCCTCTCTGTTGT TGGCCCGCGGGTGAGGGACCCACCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp2 HG03540.hp2 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0046 a0001c0001t0045 a0001c0001t0046	a0001c0001t0045g0026 a0001c0001t0046g0252 a0001c0001t0045g0026 a0001c0001t0046g0252	2	268	0.0075	224	c.14 others(235): Show c.1438_*1439insGCTGCACTGTGCATTGTGCCTCCCGTGTGGACGC CCTCTCTGTTGTTGGCCCGCGGGTGAGGGACCCACCACCCCGCTGCACTG TGCATTGTGCCTCCCGTGTGGACGCCCTCTCTGTTGTTGGCCCGCGGGTG AGGGACCCACCACCCCGCTGCACTGTGCATTCTGCCTCCTGTGTGGACGC CCTCTCTGTTGTTGGCCCGCGGGTGAGGGACCCACCACCC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	11/11	1439	INFO_REALIGN_3_PRIME	chr5	TogoVar
AK8_chr9_132720578_132883284	132822310	T T	TATATGTG others(217): Show TATATGTGTATGTATATACAAATATATACATATGTGTATGTATATACAAA TATATACATATGTGTATGTATATACAAATATATACATATGTGTATGTATA TACAAATATATACATATGTGTATGTATATACAAATATATACATATGTGTA TGTATATACAAATATATACATATGTGTATGTATATACAAATATATACATA TGTGTATGTATATACAAATATATAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	266	0.0038	224	c.889 others(239): Show c.889+894_889+895insGTATATATTTGTATATACATACACATATGT ATATATTTGTATATACATACACATATGTATATATTTGTATATACATACAC ATATGTATATATTTGTATATACATACACATATGTATATATTTGTATATAC ATACACATATGTATATATTTGTATATACATACACATATGTATATATTTGT ATATACATACACATATGTATATATTTGTATATACATACACATAT	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
ALG13_chrX_111676170_111765649	111721071	A A	AAGAAGGA others(217): Show AAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAA TTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGA AGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCT TCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGA AGAAACTTAATTCTTCCTTCTTCAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01106.hp1 HG02559.hp1 others(6): Show HG00673.hp1 HG01106.hp1 HG02559.hp1 HG02809.hp1 HG02818.hp1 HG03098.hp1 HG03209.hp1 NA18612.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(6): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0168 a0002c0003t0001g0065	9	191	0.0471	224	c.132 others(240): Show c.1327-265_1327-42dupAACTTAATTCTTCCTTCTTCATAGAAGGA AGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCT TCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAA ACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTT CATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGA	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
ANKRD11_chr16_89262630_89495561	89306380	T T	TTACCTCC others(217): Show TTACCTCCCACTCCGCAGACACGCGCCACCTCCCACTCCGCAGACACGCG CCACCCACCTCCCACTCCGCAGACACGCGCCACCCACCTCCCACTCCGCA GACACGCGCCACCCACCTCCCACTCCGCAGACACGCGCCACCCACCTCCC ACTCCGCAGACACGCGCCACCTCCCACTCCGCAGACACGCGCCACCTACC TCCCACTCCGCAGACACGCGCCACC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	310	0.0032	224	c.88- others(239): Show c.88-1037_88-1036insGGTGGCGCGTGTCTGCGGAGTGGGAGGTAG GTGGCGCGTGTCTGCGGAGTGGGAGGTGGCGCGTGTCTGCGGAGTGGGAG GTGGGTGGCGCGTGTCTGCGGAGTGGGAGGTGGGTGGCGCGTGTCTGCGG AGTGGGAGGTGGGTGGCGCGTGTCTGCGGAGTGGGAGGTGGGTGGCGCGT GTCTGCGGAGTGGGAGGTGGCGCGTGTCTGCGGAGTGGGAGGTA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
API5_chr11_43306996_43349529	43335390	C C	CAAAACTT others(217): Show CAAAACTTAATACGAGGGGTCGGGGGGAGGGGGGAGGGATAGCATTGGGA GATATACCTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAGCATG GCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTA AAACTTAGAATATAATAAAAAAAAAAAAAAGAAAGGAAAAAAAAAAATAA ATAAATAAATAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	384	0.0026	224	c.135 others(239): Show c.1355+51_1355+52insGGGTCGGGGGGAGGGGGGAGGGATAGCATT GGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAG CATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAATATAATAAAAAAAAAAAAAAGAAAGGAAAAAAAAAA ATAAATAAATAAATAAAAAAAAAAAAAAAAAAACTTAATACGAG	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
APOA4_chr11_116815700_116828304	116818382	A A	ATATATGA others(217): Show ATATATGAATATATATATGAATATATATATGAATATATATGAATATATAT ATGAATATATATATGAATATATATGAATATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATGAATATATATATGAATATAT ATGAATATATATATGAATTATATATGAATATATATATGAATATATATATG AATATATATGAATATATATATGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp1 NA19054.hp1 NA19088.hp2 NA18997.hp1 NA19054.hp1 NA19088.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0006 a0001c0005t0001g0006	3	462	0.0065	224	c.24 others(235): Show c.2484_*2485insATTCATATATATATTCATATATATTCATATATAT ATTCATATATATATTCATATATAATTCATATATATATTCATATATATTCA TATATATATTCATATATATTCATATATATATTCATATATATTCATATATA TATTCATATATATATTCATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2317		chr11	TogoVar
APOL3_chr22_36135329_36165755	36165240	T T	TAAAAATT others(217): Show TAAAAATTACTCAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0063 a0002c0005t0001g0063	1	366	0.0027	224	c.-46 others(235): Show c.-4660_-4659insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTGAGTAATTTTT	APOL3	ENSG00000128284.20	transcript	ENST00000424878.4	protein_coding		4486		chr22	TogoVar
ARHGEF10_chr8_1818926_1963641	1840361	G G	GCTGTCTG others(217): Show GCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGTCTGTCTGGTGTGGAAGA TGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGGGGACTG TCTGGTGTGGGGACTGTCTGCTGTGGAAGCTGTCTGCTGTGGAAGCTGTC TGGTGTGGGGACTGTCTGGTGTGGAAGCTCTCTGGTGTGGGGACTGTCTT GTGTGGGGACTGTCCGGTGTGGGGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02717.hp1 HG02818.hp2 others(5): Show HG01255.hp1 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG03139.hp1 HG03209.hp2 HG03540.hp2 NA18980.hp2	a0001 a0006 a0011 a0001 a0006 a0011	a0001c0002 a0001c0003 a0001c0009 others(4): Show a0001c0002 a0001c0003 a0001c0009 a0001c0012 a0001c0100 a0006c0113 a0011c0029	a0001c0002t0026 a0001c0003t0026 a0001c0009t0058 others(5): Show a0001c0002t0026 a0001c0003t0026 a0001c0009t0058 a0001c0012t0074 a0001c0100t0072 a0006c0113t0070 a0011c0029t0007 a0011c0029t0041	a0001c0002t0026g0192 a0001c0003t0026g0190 a0001c0009t0058g0200 others(5): Show a0001c0002t0026g0192 a0001c0003t0026g0190 a0001c0009t0058g0200 a0001c0012t0074g0191 a0001c0100t0072g0199 a0006c0113t0070g0304 a0011c0029t0007g0202 a0011c0029t0041g0201	8	363	0.0220	224	c.-47 others(241): Show c.-47-2987_-47-2986insTGGTGTGGAAGCTGTCTGGTGTGGGGTC TGTCTGGTGTGGAAGATGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTG TCCGGTGTGGGGACTGTCTGGTGTGGGGACTGTCTGCTGTGGAAGCTGTC TGCTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGAAGCTCTCTG GTGTGGGGACTGTCTTGTGTGGGGACTGTCCGGTGTGGGGACTGTC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1873433	A A	AGCCCGCG others(217): Show AGCCCGCGGGGTAGTGCACCCGCGTTTCCTCGTTGCGTTGAGAGGTGCTG CGGGGTAGTGCAGCTGCATTTCCTCGTTGCGTTGAGAGGTGCCCGCGGGG TGGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGCGCCCGCGGGGTAGTG CACCTGCATTTCCTCGTTGCGTTGAGAGGTGCCCGCGGGGTAGCGCACCT GCAGTTCCTCGTTGCGTTGAGAGGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01934.hp1 HG02258.hp2 others(8): Show HG01884.hp1 HG01934.hp1 HG02258.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02976.hp2 HG03209.hp1 HG03453.hp1 HG03579.hp2 NA19030.hp1	a0001 a0003 a0019 others(1): Show a0001 a0003 a0019 a0020	a0001c0002 a0001c0005 a0001c0007 others(7): Show a0001c0002 a0001c0005 a0001c0007 a0001c0012 a0001c0016 a0001c0023 a0001c0101 a0003c0040 a0019c0103 a0020c0089	a0001c0002t0001 a0001c0005t0018 a0001c0007t0003 others(7): Show a0001c0002t0001 a0001c0005t0018 a0001c0007t0003 a0001c0012t0001 a0001c0016t0014 a0001c0023t0001 a0001c0101t0001 a0003c0040t0009 a0019c0103t0002 a0020c0089t0034	a0001c0002t0001g0198 a0001c0002t0001g0327 a0001c0005t0018g0337 others(8): Show a0001c0002t0001g0198 a0001c0002t0001g0327 a0001c0005t0018g0337 a0001c0007t0003g0143 a0001c0012t0001g0031 a0001c0016t0014g0343 a0001c0023t0001g0034 a0001c0101t0001g0040 a0003c0040t0009g0038 a0019c0103t0002g0039 a0020c0089t0034g0350	11	363	0.0303	224	c.680 others(241): Show c.680-3116_680-3115insGTTTCCTCGTTGCGTTGAGAGGTGCTGC GGGGTAGTGCAGCTGCATTTCCTCGTTGCGTTGAGAGGTGCCCGCGGGGT GGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGCGCCCGCGGGGTAGTGC ACCTGCATTTCCTCGTTGCGTTGAGAGGTGCCCGCGGGGTAGCGCACCTG CAGTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCACCCGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1873433	A A	AGCCCGCG others(217): Show AGCCCGCGGGGTAGTGCACCCGCGTTTCCTCGTTGCGTTGAGAGGTGCTG CGGGGTAGTGCAGCTGCATTTCCTCGTTGCGTTGAGAGGTGCCCGCGGGG TGGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGCGCCCGCGGGGTAGTG CACCTGCATTTCCTCGTTGCGTTGAGAGGTGCCCGCGGGGTAGCGCACCT GCATTTCCTCGTTGCGTTGAGAGGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00597.hp2 others(25): Show HG00423.hp1 HG00544.hp1 HG00597.hp2 HG01069.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01952.hp2 HG02165.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18964.hp2 NA18967.hp2 NA18990.hp1 NA19012.hp1 NA19058.hp2 NA19060.hp2 NA19065.hp1 NA19070.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0002 a0001c0005 others(20): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0010 a0001c0012 a0001c0016 a0001c0085 a0001c0096 a0001c0153 a0001c0155 a0001c0156 a0002c0022 a0002c0054 a0002c0082 a0002c0149 a0002c0150 a0002c0151 a0002c0152 a0004c0038 a0007c0053 a0007c0147 a0007c0148	a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 others(22): Show a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 a0001c0007t0001 a0001c0010t0001 a0001c0010t0008 a0001c0012t0001 a0001c0012t0018 a0001c0016t0002 a0001c0085t0001 a0001c0096t0033 a0001c0153t0002 a0001c0155t0003 a0001c0156t0002 a0002c0022t0001 a0002c0054t0002 a0002c0082t0001 a0002c0149t0055 a0002c0150t0001 a0002c0151t0001 a0002c0152t0002 a0004c0038t0018 a0007c0053t0001 a0007c0147t0002 a0007c0148t0002	a0001c0001t0002g0239 a0001c0002t0001g0274 a0001c0005t0001g0238 others(25): Show a0001c0001t0002g0239 a0001c0002t0001g0274 a0001c0005t0001g0238 a0001c0007t0001g0222 a0001c0007t0001g0323 a0001c0010t0001g0182 a0001c0010t0008g0307 a0001c0012t0001g0236 a0001c0012t0018g0311 a0001c0016t0002g0261 a0001c0085t0001g0231 a0001c0096t0033g0175 a0001c0153t0002g0014 a0001c0155t0003g0179 a0001c0156t0002g0007 a0002c0022t0001g0235 a0002c0054t0002g0020 a0002c0054t0002g0023 a0002c0082t0001g0282 a0002c0149t0055g0009 a0002c0150t0001g0005 a0002c0151t0001g0011 a0002c0152t0002g0019 a0004c0038t0018g0085 a0007c0053t0001g0010 a0007c0053t0001g0016 a0007c0147t0002g0004 a0007c0148t0002g0003	28	363	0.0771	224	c.680 others(241): Show c.680-3116_680-3115insGTTTCCTCGTTGCGTTGAGAGGTGCTGC GGGGTAGTGCAGCTGCATTTCCTCGTTGCGTTGAGAGGTGCCCGCGGGGT GGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGCGCCCGCGGGGTAGTGC ACCTGCATTTCCTCGTTGCGTTGAGAGGTGCCCGCGGGGTAGCGCACCTG CATTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCACCCGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF1_chr19_41878184_41912452	41896787	T T	TCCCCCTC others(217): Show TCCCCCTCCTCTCTCACCTCCCCTCTCCTCTCTCACCTCCCCCCTCCTCT CTCACCTACCCCCTCCTCTCACCTCCCCGCTCCTCTCTCACCTCCCCTCT CTTCTCTCACCTCCCTCTTCCTCTCTCACCTCCCCCCTCCTCTCACCTCC CCCCTCCTCTCTCACCTCCCCCCTCCTCTCTCACCTCCCCTCTCCTCTCT CACCTCCCCCATCCTCTCTCACCTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19240.hp1 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0071 a0001c0002t0001g0072	2	234	0.0086	224	c.112 others(241): Show c.1121+347_1121+348insCTCCTCTCTCACCTACCCCCTCCTCTCA CCTCCCCGCTCCTCTCTCACCTCCCCTCTCTTCTCTCACCTCCCTCTTCC TCTCTCACCTCCCCCCTCCTCTCACCTCCCCCCTCCTCTCTCACCTCCCC CCTCCTCTCTCACCTCCCCTCTCCTCTCTCACCTCCCCCATCCTCTCTCA CCTCCCCCCTCCTCTCTCACCTCCCCTCTCCTCTCTCACCTCCCCC	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARID1B_chr6_156772378_157215779	157147300	C C	CCTGCCCG others(217): Show CCTGCCCGCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCA CCCCAGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTG CCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGTCCTCCGTCCCCCACCCC AGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGACCCTGCCCT CCGTCCCCCACCCCCGCCTCCGGCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp1 HG02572.hp2 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0145 a0002c0003t0002g0027 a0001c0001t0001g0145 a0002c0003t0002g0027	2	150	0.0133	224	c.276 others(243): Show c.2762-1318_2762-1317insGCCTTCCCTCACCCCCGCCTCCGGCC CTGCCCTCCGGCCCTCACCCCAGCCTCCGACCCTGCCCTCCGTCCCCCAC CCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGT CCTCCGTCCCCCACCCCAGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCC GCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCTCTGCCC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157147522	G G	GCCCTGCC others(217): Show GCCCTGCCCTCCGTCCCCCACCCCCGTCTCCGGCCCTGCCCGCCAGCCCT CACCCCCGCCTCCGACCCTGCCGTCCGTCCCCCACCCCAGCCTCCGACCC TGCCCGCCAGCCCTCACCCCCGCCTCCGACCCTGCCCTCCGTCCCTCACC TCCGCCTCCGACCCTGACCTCCGTCCCTCACCCCCGCCTCCGGCCCTGCC CCCCGTCCCTCACCTCCGCCTCCGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp1 NA18522.hp1 HG02559.hp1 HG03195.hp1 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0004c0009t0001 a0001c0001t0001 a0004c0009t0001	a0001c0001t0001g0065 a0001c0001t0001g0120 a0004c0009t0001g0094 a0001c0001t0001g0065 a0001c0001t0001g0120 a0004c0009t0001g0094	3	150	0.0200	224	c.276 others(243): Show c.2762-1097_2762-1096insCCCTCCGTCCCCCACCCCCGTCTCCG GCCCTGCCCGCCAGCCCTCACCCCCGCCTCCGACCCTGCCGTCCGTCCCC CACCCCAGCCTCCGACCCTGCCCGCCAGCCCTCACCCCCGCCTCCGACCC TGCCCTCCGTCCCTCACCTCCGCCTCCGACCCTGACCTCCGTCCCTCACC CCCGCCTCCGGCCCTGCCCCCCGTCCCTCACCTCCGCCTCCGACCCTG	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ASAP1_chr8_130047104_130448674	130050091	C C	CACATGGG others(217): Show CACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGG GCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGCAGAGGGGA ATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGG GGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGG AGAACACATGGGGGCAGAGGGGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	308	0.0033	224	c.46 others(235): Show c.4639_*4640insATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCC CCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCATGTGTT CTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTG CCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCATGTG TTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2012		chr8	TogoVar
ASAP2_chr2_9201812_9410678	9406031	G G	GTGTCACT others(217): Show GTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGG CTTCCTCAGGCCTTCAGTGTGTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0179 a0002c0001t0001g0179	1	210	0.0048	224	c.27 others(235): Show c.2704_*2705insTGTCACTGAGTGGACCTCTGTGACATCTAGGCTT CCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCT CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		354		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406031	G G	GTGTCACT others(217): Show GTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGT CTTCCTCAGGCCTTCAGTGTGTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 NA20300.hp2 HG00323.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0182 a0002c0001t0001g0207 a0001c0002t0001g0182 a0002c0001t0001g0207	2	210	0.0095	224	c.27 others(235): Show c.2704_*2705insTGTCACTGAGTGGACCTCTGTGACATCTAGTCTT CCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCT CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		354		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406079	G G	GTGTGTGT others(217): Show GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGG CCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTC CTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTC GTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGA CATCTAGTCTTCCTCAGGCCTTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0018 a0001c0010t0018	a0001c0010t0018g0173 a0001c0010t0018g0173	1	210	0.0048	224	c.27 others(235): Show c.2752_*2753insTGTGTGTTTGTCACTGAGTGGACCTCTGTGACAT CTAGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTG AGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		402		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406284	C C	CGTCTTCC others(217): Show CGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTAGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAATGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0188 a0001c0002t0003g0188	1	210	0.0048	224	c.29 others(235): Show c.2957_*2958insGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAATGTGTGTTT GTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGT GTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTT CAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		607		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406342	T T	TCTTCCTC others(217): Show TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0163 a0002c0001t0001g0163	1	210	0.0048	224	c.30 others(235): Show c.3015_*3016insCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGA GTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGT CACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGT GTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCA GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		665		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406398	T T	TCTTCCTC others(217): Show TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	210	0.0048	224	c.30 others(235): Show c.3071_*3072insCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGA GTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGT CACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGT GTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCA GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		721		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406452	A A	AGTCTTCC others(217): Show AGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0105 a0001c0003t0006g0105	1	210	0.0048	224	c.31 others(235): Show c.3125_*3126insGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTT GTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGT GTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		775		chr2	TogoVar
ATG2B_chr14_96274195_96368341	96340103	A A	AATATATG others(217): Show AATATATGATATATATGAATATATATATCATATATGATATATATGAATAT ATATATCATATATGATATATATGAATATATATATCATATATGATATATAT GAATATATATATCATATATGATATATATGAATATATATATCATATATGAT ATATATGAATATATATATCATATATGATATATATGAATATATATATCATA TATGATATATATGAATATATATATC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0025 a0003c0004t0025	a0003c0004t0025g0249 a0003c0004t0025g0249	1	356	0.0028	224	c.924 others(241): Show c.924+1418_924+1419insGATATATATATTCATATATATCATATAT GATATATATATTCATATATATCATATATGATATATATATTCATATATATC ATATATGATATATATATTCATATATATCATATATGATATATATATTCATA TATATCATATATGATATATATATTCATATATATCATATATGATATATATA TTCATATATATCATATATGATATATATATTCATATATATCATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATP5ME_chr4_667436_679276	679234	C C	CAGGGCGG others(217): Show CAGGGCGGGTGGGACAGCCCAAGCCTGGAAACTCAGAGCCCTGAAGCTGC GAGGTGATGGCCCTGGCCGCCCTTGGTTCCATCAGAGCTGGCAGAGAGCA TCCCAGGGTGAGACAGGGCGGGTGGGACAGCCCAAGCCTGGAAACTCAGA GCCCTGAAGCTGCGAGGTGATGGCCCTGGCCGCCCTTGGTTCCATCAGAG CTGGCAGAGAGCATCCCAGGGTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03195.hp1 HG02922.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	394	0.0051	224	c.-49 others(235): Show c.-4988_-4987insCTCACCCTGGGATGCTCTCTGCCAGCTCTGATGG AACCAAGGGCGGCCAGGGCCATCACCTCGCAGCTTCAGGGCTCTGAGTTT CCAGGCTTGGGCTGTCCCACCCGCCCTGTCTCACCCTGGGATGCTCTCTG CCAGCTCTGATGGAACCAAGGGCGGCCAGGGCCATCACCTCGCAGCTTCA GGGCTCTGAGTTTCCAGGCTTGGGCTGTCCCACCCGCCCT	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		4959		chr4	TogoVar
ATXN7L1_chr7_105599772_105881599	105733772	G G	GTCCACCC others(217): Show GTCCACCCATCCATCCACCCATCCATCCATTCATCCATCCACCCATCCAT CCATTCATCCATCCACCCATCCATCCATCCTTCCATCCATCCACCCAACC ACCCATCCTTCCATCCATCCACCCAACCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCTATGCTTCCATCC ATCCACCCATCCATCCATTCATCCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG00323.hp1 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0019 a0001c0001t0005 a0001c0001t0019	a0001c0001t0005g0182 a0001c0001t0019g0062 a0001c0001t0005g0182 a0001c0001t0019g0062	2	252	0.0079	224	c.355 others(243): Show c.355+54831_355+54832insTGGATGAATGGATGGATGGGTGGATG GATGGAAGCATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGGTGGTTGGGTGGATGGATGGAAGGATGGGTG GTTGGGTGGATGGATGGAAGGATGGATGGATGGGTGGATGGATGAATGGA TGGATGGGTGGATGGATGAATGGATGGATGGGTGGATGGATGGGTGGA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(217): Show GGGAGGGAGAGAGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGGAGG GGGGAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGG GGAGGGGGGAGGGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGA GGGGGGAGGGGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACT GGGGAGGAGGTGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0085 a0001c0005t0012g0085	1	298	0.0034	224	c.51+ others(237): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCCCTCCCCCCTCCCCCCTCC CCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCC CCCTCTCCCTCCCTCCCCCTCCCCCCTCCCCTCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81056794	C C	CTTCTGCT others(217): Show CTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTT TCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTC TGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTG CTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCT GTTGCGTTTTTCTGCTGTTGCGTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01070.hp2 HG01071.hp2 others(25): Show HG00609.hp1 HG01070.hp2 HG01071.hp2 HG01167.hp2 HG01433.hp2 HG01943.hp2 HG01993.hp1 HG02040.hp1 HG02523.hp1 HG02559.hp2 HG03017.hp2 HG03130.hp2 HG03831.hp1 NA18946.hp2 NA18947.hp1 NA18954.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18993.hp2 NA19007.hp1 NA19070.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0022 a0001c0003t0001 a0001c0004t0011 a0001c0007t0001 a0002c0002t0002 a0002c0002t0021 a0002c0005t0002	a0001c0001t0001g0039 a0001c0001t0001g0115 a0001c0001t0001g0276 others(25): Show a0001c0001t0001g0039 a0001c0001t0001g0115 a0001c0001t0001g0276 a0001c0001t0001g0354 a0001c0001t0003g0141 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0170 a0001c0001t0003g0368 a0001c0001t0004g0058 a0001c0001t0004g0061 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0165 a0001c0001t0008g0056 a0001c0001t0009g0034 a0001c0001t0022g0291 a0001c0003t0001g0194 a0001c0004t0011g0028 a0001c0007t0001g0360 a0001c0007t0001g0361 a0002c0002t0002g0086 a0002c0002t0002g0089 a0002c0002t0002g0094 a0002c0002t0002g0118 a0002c0002t0002g0355 a0002c0002t0021g0055 a0002c0005t0002g0288	28	376	0.0745	224	c.131 others(239): Show c.131-939_131-938insGCTGTTGCGTTTTTCTGCTGTTGCGTTTTT CTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCT GCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGC TGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTG TTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81056794	C C	CTTCTGCT others(217): Show CTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTT TCTGCTGTTGCGTTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTT CTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCT GCTGTTGCGTTTTCTGCTGTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTG TTGCGTTTTTTCTGCTGTTGCGTTT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0033 a0001c0001t0038g0033	1	376	0.0027	224	c.131 others(241): Show c.131-1021_131-1020insTCTGCTGTTGCGTTTTTCTGCTGTTGCG TTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTT TTTCTGCTGTTGCGTTTTCTGCTGTGCGTTTTTCTGCTGTTGCGTTTTTC TGCTGTTGCGTTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCT GCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81056838	C C	CGTTTTTC others(217): Show CGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCG TTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTT TTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTT TCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTC TGCTGTTGCGTTTTTCTGCTGTTGT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	376	0.0027	224	c.131 others(239): Show c.131-939_131-938insGCTGTTGCGTTTTTCTGCTGTTGCGTTTTT CTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCT GCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGTGTTTTTCTGC TGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTG TTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BEAN1_chr16_66422295_66487833	66474581	A A	AGAGGGAG others(217): Show AGAGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAGAGAGGGAGGGAGGA AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGAGGGAGGGAGGGAG GGAGAGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGAGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG AGAGGGAGGGAGGAAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0087 a0001c0001t0005g0087	1	298	0.0034	224	c.290 others(241): Show c.290-2968_290-2967insAGAGGGAGGGAGGGAGGGAGGGAGAGAG GGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGAGGG AGGGAGGGAGGGAGAGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGAGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGAGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BRSK2_chr11_1384934_1467689	1423659	C C	CTGCCCCA others(217): Show CTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03579.hp2 HG00642.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0031 a0001c0003t0014 a0001c0003t0031	a0001c0003t0014g0036 a0001c0003t0031g0007 a0001c0003t0014g0036 a0001c0003t0031g0007	2	360	0.0056	224	c.92- others(241): Show c.92-12374_92-12373insGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1423667	A A	AGCCTCCC others(217): Show AGCCTCCCCCGCTGGGCATTCCGGGTGCCCCAAGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGGTGCCCCAG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0190 a0001c0001t0004g0190	1	360	0.0028	224	c.92- others(241): Show c.92-12357_92-12356insATTCCGGGTGCCCCAAGCCTCCCCCGCT GGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCC AGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGC GTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGC CTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1441501	G G	GTCCCCCC others(217): Show GTCCCCCCATTAGCTGCCCCTCAAGTGCACCGTCCCCCCATAGCGGCCCC TCAAGTGCACCATCCCCCCCATTAACTACCCCTCAAGTGCACCATCCCCC CCATTAGCGGCCCCTCAAGTGCACCGTGCCCCCCATTAGCTGCCCCTCAA GTGCACTGTCCCCCCATAGTGGCCCCTCAGGTGCACCGTCCCCCCCATTA GCTACTCCTCAAGTGCACCATCCCC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0320 a0002c0002t0002g0320	1	360	0.0028	224	c.413 others(239): Show c.413+576_413+577insCCCCATTAGCTGCCCCTCAAGTGCACCGTC CCCCCATAGCGGCCCCTCAAGTGCACCATCCCCCCCATTAACTACCCCTC AAGTGCACCATCCCCCCCATTAGCGGCCCCTCAAGTGCACCGTGCCCCCC ATTAGCTGCCCCTCAAGTGCACTGTCCCCCCATAGTGGCCCCTCAGGTGC ACCGTCCCCCCCATTAGCTACTCCTCAAGTGCACCATCCCCTCC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BSN_chr3_49549477_49676549	49606254	A A	ATACATAT others(217): Show ATACATATATTATATATGTATATATATAATATATACATATATTATATATG TATATATTATATATACATATATTATATATGTATATATTATATATAAAATA TATATAATATATATTAAAAATATATATTATATATATTAAAAATATATATT ATATATATTAAAAATATATATTATATATATTAAAATATATATATAATATA TATTAAAAATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03195.hp2 HG03139.hp2 HG03195.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0020 a0003c0003t0004g0023 a0003c0003t0004g0020 a0003c0003t0004g0023	2	186	0.0108	224	c.225 others(243): Show c.225-18719_225-18718insCATATATTATATATGTATATATATAA TATATACATATATTATATATGTATATATTATATATACATATATTATATAT GTATATATTATATATAAAATATATATAATATATATTAAAAATATATATTA TATATATTAAAAATATATATTATATATATTAAAAATATATATTATATATA TTAAAATATATATATAATATATATTAAAAATATATATTATATATATTA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BTRC_chr10_101349165_101562313	101366940	A A	ATATATAA others(217): Show ATATATAAATATATATTTATATATATTAATATATATTTATATATATATTT ATATATAAATATATATTTATATATATTAATATATATTAATATATATTTTT ATATATTTATATATTTATATATATTAATATATATATTTATATATTTATAT ATATTTATATATATTTATATATATATTTATATATTTATATATATTTATAT ATTTATATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	266	0.0038	224	c.48+ others(241): Show c.48+12718_48+12719insAATATATATTTATATATATTAATATATA TTTATATATATATTTATATATAAATATATATTTATATATATTAATATATA TTAATATATATTTTTATATATTTATATATTTATATATATTAATATATATA TTTATATATTTATATATATTTATATATATTTATATATATATTTATATATT TATATATATTTATATATTTATATATATATTTATATATATTTATATA	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
C10orf90_chr10_126419997_126675693	126564843	T T	TAATATAT others(217): Show TAATATATATTATATATAATATATATTATATATATTATATATTATATATA TATATTATATATAATATATATTATATATTATATAAAATATATATTATATA TAATATATATTATATATTATATAAAATATATATTATATATAATATATAAT ATATATTATATAAAATATATATTATATATAATATATATTATATATTATAT AATATATATTTTATATAATATATAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG03471.hp2 HG02055.hp2 HG02572.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0002c0012 a0001c0001 a0002c0011 a0002c0012	a0001c0001t0001 a0002c0011t0001 a0002c0012t0001 a0001c0001t0001 a0002c0011t0001 a0002c0012t0001	a0001c0001t0001g0162 a0002c0011t0001g0163 a0002c0012t0001g0014 a0001c0001t0001g0162 a0002c0011t0001g0163 a0002c0012t0001g0014	3	218	0.0138	224	c.314 others(243): Show c.314-50905_314-50904insTTATATATTATATAAAATATATATTA TATAATATATAATATATATTATATATAATATATATTTTATATAATATATA TTATATATTATATATAATATATATTTTATATAATATATAATATATATTAT ATATAATATATATTTTATATAATATATAATATATATTATATATAATATAT ATATATAATATATAATATATATAATATATATTATATATAATATATATT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126564843	T T	TAATATAT others(217): Show TAATATATATTATATATAATATATATTATATATATTATATATTATATATA TATATTATATATAATATATATTATATATTATATATAATATATATTATATA TAATATATATTATATATTATATAAAATATATATTATATATAATATATAAT ATATATTATATAAAATATATATTATATATAATATATATTATATATTATAT AATATATATTTTATATAATATATAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0165 a0002c0004t0001g0165	1	218	0.0046	224	c.314 others(243): Show c.314-50905_314-50904insTTATATATTATATAAAATATATATTA TATAATATATAATATATATTATATATAATATATATTTTATATAATATATA TTATATATTATATATAATATATATTTTATATAATATATAATATATATTAT ATATAATATATATTATATATAATATATAATATATATTATATATAATATAT ATATATAATATATAATATATATAATATATATTATATATAATATATATT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565147	A A	ATATGTAA others(217): Show ATATGTAATATAATATTTATATTACATATTATGTAATATAATATTTATAT TACATATTATGTAATATAATATTTATATTACATAATATGTAATATAATAT TTATATTACATATTATGTAATATAATATTTATATTACATAATATGTAATA TAATATTTATATTACATATTATGTAATATAATATTTATATTACATATTAT GTAATATAATATTTATATTACATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02970.hp1 HG02622.hp2 HG02970.hp1	a0002 a0011 a0002 a0011	a0002c0004 a0011c0027 a0002c0004 a0011c0027	a0002c0004t0001 a0011c0027t0001 a0002c0004t0001 a0011c0027t0001	a0002c0004t0001g0021 a0011c0027t0001g0036 a0002c0004t0001g0021 a0011c0027t0001g0036	2	218	0.0092	224	c.314 others(243): Show c.314-51209_314-51208insATATGTAATATAAATATTATATTACA TAATATGTAATATAAATATTATATTACATAATATGTAATATAAATATTAT ATTACATATTATGTAATATAAATATTATATTACATAATATGTAATATAAA TATTATATTACATATTATGTAATATAAATATTATATTACATAATATGTAA TATAAATATTATATTACATAATATGTAATATAAATATTATATTACATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565152	T T	TAATATAA others(217): Show TAATATAATATTTATATTACATATTATGGAATATAATATTTATATTACAT ATTATGGAATATAATATTTATATTACATATTATGGAATATAATAATTATA TTACATATTATGGAATATAATAATTATATTACATATTATGGAATATAATA TTTATATTACATATTATGGAATATAATATTTATATTACATATTATGGAAT ATAATATTTATATTACATATTATGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0003 a0007c0010t0003	a0007c0010t0003g0154 a0007c0010t0003g0154	1	218	0.0046	224	c.314 others(243): Show c.314-51214_314-51213insCCATAATATGTAATATAAATATTATA TTCCATAATATGTAATATAAATATTATATTCCATAATATGTAATATAAAT ATTATATTCCATAATATGTAATATAATTATTATATTCCATAATATGTAAT ATAATTATTATATTCCATAATATGTAATATAAATATTATATTCCATAATA TGTAATATAAATATTATATTCCATAATATGTAATATAAATATTATATT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126672434	G G	GCAGGACT others(217): Show GCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACC CCGAGAACAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCA GCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGG TCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAG GACTGGTCATCAGCTACCCCGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG01069.hp1 others(16): Show HG00280.hp2 HG00423.hp2 HG01069.hp1 HG01106.hp1 HG02074.hp1 HG02109.hp2 HG02293.hp2 HG02300.hp2 HG02683.hp2 HG03490.hp1 HG03927.hp2 NA18941.hp2 NA18966.hp2 NA18971.hp1 NA19054.hp1 NA19060.hp2 NA19068.hp1 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0009 a0002c0003 others(4): Show a0001c0001 a0001c0009 a0002c0003 a0003c0002 a0003c0017 a0004c0005 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0009t0003 a0002c0003t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0017t0001 a0004c0005t0002 a0005c0006t0001	a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0002g0185 others(16): Show a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0002g0185 a0001c0001t0004g0176 a0001c0001t0004g0192 a0001c0009t0003g0178 a0002c0003t0001g0177 a0002c0003t0001g0187 a0003c0002t0001g0031 a0003c0002t0001g0173 a0003c0002t0001g0179 a0003c0002t0001g0184 a0003c0002t0002g0188 a0003c0002t0003g0175 a0003c0017t0001g0189 a0004c0005t0002g0186 a0004c0005t0002g0190 a0004c0005t0002g0191 a0005c0006t0001g0180	19	218	0.0872	224	c.-19 others(235): Show c.-1955_-1954insGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCG GGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTG GTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCA GTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGTTCTCGGGGTAGCTGA TGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		1742		chr10	TogoVar
C1QTNF8_chr16_1083226_1101244	1092978	T T	TGCACACA others(217): Show TGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCGGCGCTCAACC AATCACTGCACACAGTCGGCGCTCAACCAATCACAGCACACAGTCGGCGC TCAATCAATCCCTGCACACAGTCGGCGCTCAACGAATCCGTGCACACAGT CGGCGCTCAATCAATCCCTGCACACAGTCGGCGCTCAACCAATCCCTGCA CACAGTCGGCGCTCAACAAATCACA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	396	0.0025	224	c.4+ others(237): Show c.4+518_*4+519insTGTGATTTGTTGAGCGCCGACTGTGTGCAGGG ATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGT GCACGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGA CTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGTTGAG CGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C1QTNF8_chr16_1083226_1101244	1093199	C C	CCCTGCAC others(217): Show CCCTGCACACAGTCGGCGCTCAACAAATCACAGCACACAGTCGGCGCTCA ATCAATCCCTGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCGG CGCTCAACCAATCACTGCACACAGTCGGCGCTCAACCAATCACAGCACAC AGTCGGCGCTCAACCAATCCCTGCACACAGTCGGTGCTCAACAAATCACT GCACACAGTCGGCGCTCAATCAATT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	396	0.0025	224	c.4+ others(237): Show c.4+297_*4+298insAATTGATTGAGCGCCGACTGTGTGCAGTGATT TGTTGAGCACCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGTGCT GTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGTTGAGCGCCGACTG TGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGC CGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGG	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar

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