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
CERT1_chr5_75372775_75516629	75503873	T T	TTGTTTAA others(178): Show TTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAA CATTTAAATTTTTTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTA ATTTAAATTAAACATTTAAATTAAATGTTTAATTTAAATTAAACATTAAA TTTTTTGTTTAATTTAAATTAAACATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01192.hp1 HG01256.hp2 others(7): Show HG01071.hp2 HG01192.hp1 HG01256.hp2 HG01261.hp1 HG02148.hp1 HG02257.hp2 HG02698.hp1 NA18974.hp2 NA18998.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 others(7): Show a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286	10	336	0.0298	185	c.231 others(202): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACAAAAAATTTAATGTTTAATTTAAATTAAACATTTAATTTAAATGTTTA ATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAATTAAACAAAAAA TTTAAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAA TTAAACA	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TTGTTTAA others(178): Show TTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAA CATTTAAATTTTTTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTA ATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTAAA TTTTTTGTTTAATTTAAATTAAACATTTAAATTAAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	336	0.0030	185	c.231 others(202): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACAAAAAATTTAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTA ATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAATTAAACAAAAAA TTTAAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAA TTAAACA	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CFAP61_chr20_20047532_20365698	20356977	T T	TGTGAGTG others(178): Show TGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACTGCGAGTG GAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCA CACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGG AAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(24): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG01074.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01943.hp2 HG01978.hp1 HG02071.hp2 HG02135.hp2 HG02293.hp1 HG02683.hp1 HG04228.hp2 NA18969.hp2 NA19007.hp1 NA19081.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0011 a0018	a0001c0001 a0001c0007 a0001c0015 others(6): Show a0001c0001 a0001c0007 a0001c0015 a0001c0047 a0002c0002 a0002c0004 a0008c0016 a0011c0050 a0018c0040	a0001c0001t0002 a0001c0001t0006 a0001c0007t0002 others(7): Show a0001c0001t0002 a0001c0001t0006 a0001c0007t0002 a0001c0015t0002 a0001c0047t0002 a0002c0002t0002 a0002c0004t0002 a0008c0016t0002 a0011c0050t0002 a0018c0040t0002	a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0042 others(24): Show a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0091 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0158 a0001c0001t0002g0180 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0006g0019 a0001c0007t0002g0077 a0001c0007t0002g0084 a0001c0015t0002g0233 a0001c0047t0002g0074 a0002c0002t0002g0071 a0002c0002t0002g0081 a0002c0002t0002g0182 a0002c0002t0002g0195 a0002c0002t0002g0227 a0002c0004t0002g0087 a0008c0016t0002g0165 a0011c0050t0002g0168 a0018c0040t0002g0160	27	236	0.1144	185	c.351 others(204): Show c.3514-3232_3514-3231insTGAGTGAGGAGGTAGTCACACTGAGG GGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAG TCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGG GAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCA TAGTGTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHEK2_chr22_28682743_28746820	28730264	G G	GAGGAGAG others(178): Show GAGGAGAGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGAGGGGAGGGGAGG GGAGGGGAGGAGAGGAGGGGAGGGGAGGGAGGAGAGGAGGGGAGGGGAGG GGAGGAGGGGAGGGGGGGAGAGGAGGGGAGGGGGAGGGGAGGGGAGGAGG GGAGAGAAGAGGAGAGGAGAAGAGAGTGGAAGGGAA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0051 a0001c0003t0001g0051	1	384	0.0026	185	c.319 others(202): Show c.319+4138_319+4139insTTCCCTTCCACTCTCTTCTCCTCTCCTC TTCTCTCCCCTCCTCCCCTCCCCTCCCCCTCCCCTCCTCTCCCCCCCTCC CCTCCTCCCCTCCCCTCCCCTCCTCTCCTCCCTCCCCTCCCCTCCTCTCC TCCCCTCCCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCTCTC CTCTCCT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28730264	G G	GAGGAGAG others(178): Show GAGGAGAGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGAGGGGAGGGGAGG GGAGGGGAGGAGAGGAGGGGAGGGGAGGGGAGGAGAGGAGGGGAGGGGAG GGGAGGAGGGGAGGGGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAGG GGAGAGAAGAGGAGAGGAGAAGAGAGTGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(64): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG01069.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02280.hp2 HG02572.hp1 HG02647.hp2 HG02818.hp2 HG02895.hp1 HG02976.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03942.hp2 HG04199.hp1 NA18747.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18962.hp2 NA18963.hp2 NA18971.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18986.hp2 NA18992.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19007.hp2 NA19043.hp2 NA19056.hp1 NA19065.hp1 NA19079.hp1 NA19083.hp1 NA20805.hp2 NA20905.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0003 a0005c0006 others(1): Show a0001c0001 a0001c0003 a0005c0006 a0006c0012	a0001c0001t0001 a0001c0003t0001 a0005c0006t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0005c0006t0001 a0006c0012t0001	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0016 others(64): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0254 a0001c0001t0001g0337 a0001c0001t0001g0361 a0001c0003t0001g0076 a0005c0006t0001g0137 a0006c0012t0001g0038	67	384	0.1745	185	c.319 others(202): Show c.319+4138_319+4139insTTCCCTTCCACTCTCTTCTCCTCTCCTC TTCTCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCCCCTCCC CTCCTCCCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCCCCTCCTCTCC TCCCCTCCCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCTCTC CTCTCCT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28730264	G G	GAGGAGAG others(178): Show GAGGAGAGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGAGGGGAGGGGGAG GGGAGGGGAGGAGAGGAGGGGAGGGGAGGGAGGAGAGGAGGGGAGGGGAG GGGAGGAGGGGAGGGGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAGG GGAGAGAAGAGGAGAGGAGAAGAGAGTGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	384	0.0026	185	c.319 others(202): Show c.319+4138_319+4139insTTCCCTTCCACTCTCTTCTCCTCTCCTC TTCTCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCCCCTCCC CTCCTCCCCTCCCCTCCCCTCCTCTCCTCCCTCCCCTCCCCTCCTCTCCT CCCCTCCCCTCCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCTCTC CTCTCCT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHODL_chr21_18239833_18272370	18251520	T T	TAAATATT others(178): Show TAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAA TAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAA TAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATTAAA ATAAATATTTATTTTATTTATTTATTTTAATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02886.hp2 HG02895.hp2 others(5): Show HG02258.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03098.hp2 HG03225.hp2 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0046 a0001c0001t0002g0005 a0001c0001t0002g0046	8	402	0.0199	185	c.80- others(200): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATA TATAA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251520	T T	TAAATATT others(178): Show TAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAA TAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAA TTAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATTAAA ATAAATATTTATTTTATTTATTTATTTTAATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	402	0.0025	185	c.80- others(200): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATTAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATA TATAA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHRNA7_chr15_32025515_32178018	32154878	C C	CACCTCAC others(178): Show CACCTCACACACACACACACCACTCAGTACTCACACACACCACTCACACC ACTCACACTACTCACACCACTCATACACACCACCCACACACACTGTTCAC ACAACACACACACCACTATCACACACACCACTCACACAACCACTCACATA CCACCCACATGACTCAACACACACACCACTCACACA	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18522.hp2 NA19043.hp1 others(1): Show HG02886.hp2 NA18522.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0111 a0001c0002t0005g0192 a0001c0002t0005g0202 others(1): Show a0001c0002t0005g0111 a0001c0002t0005g0192 a0001c0002t0005g0202 a0001c0002t0005g0220	4	307	0.0130	185	c.430 others(200): Show c.430+893_430+894insCCTCACACACACACACACCACTCAGTACTC ACACACACCACTCACACCACTCACACTACTCACACCACTCATACACACCA CCCACACACACTGTTCACACAACACACACACCACTATCACACACACCACT CACACAACCACTCACATACCACCCACATGACTCAACACACACACCACTCA CACAA	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
CNOT3_chr19_54132762_54160681	54133833	C C	CTCTCCAC others(178): Show CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	223	0.0045	185	c.-42 others(196): Show c.-4211_-4210insTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCC ACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGT CTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCT G	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3928		chr19	TogoVar
COL6A1_chr21_45976770_46010048	45987790	G G	GGGGTCCA others(178): Show GGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGA GTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTC CAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGA TGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0048 a0001c0009t0002g0048	1	128	0.0078	185	c.804 others(200): Show c.804+139_804+140insTCCAGATGGAGGGGACGGCGGGGTCCAGAT GGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGG AGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGG GACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACG GCGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COMMD10_chr5_116080025_116298287	116129570	A A	ATATATAC others(178): Show ATATATACTATATACTAATGTAATATACATTAGTATATATACTATATACT AATGTAATATACATTAGTATATATATACTATATACTAATGTAATATACAT TAGTATATATATACTATATACTAATGTAATATACATTAGTATATATATAC TATATACTAATGTAATATACATTAGTATATATATAC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA19005.hp2 NA19079.hp2 NA18964.hp2 NA19005.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0206 a0001c0001t0001g0239 a0001c0001t0001g0240	3	350	0.0086	185	c.400 others(202): Show c.400-4458_400-4457insCTATATACTAATGTAATATACATTAGTA TATATATACTATATACTAATGTAATATACATTAGTATATATATACTATAT ACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATATA CATTAGTATATATATACTATATACTATATACTAATGTAATATACATTAGT ATATATA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(178): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	350	0.0029	185	c.510 others(204): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(178): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02602.hp2 NA19011.hp2 HG01192.hp1 HG02602.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0146 a0001c0002t0001g0152 a0001c0002t0001g0095 a0001c0002t0001g0146 a0001c0002t0001g0152	3	350	0.0086	185	c.510 others(204): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(178): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG04115.hp1 HG00738.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0149 a0001c0002t0001g0144 a0001c0002t0001g0149	2	350	0.0057	185	c.510 others(204): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(178): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	350	0.0029	185	c.510 others(204): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(178): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18942.hp2 NA18979.hp1 NA18612.hp2 NA18942.hp2 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116	3	350	0.0086	185	c.510 others(204): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(178): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCT CTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA19006.hp1 NA19088.hp2 HG00408.hp1 NA19006.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0124 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0124	3	350	0.0086	185	c.510 others(204): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
CPLX1_chr4_779957_831129	820728	G G	GCACCCCT others(178): Show GCACCCCTCACCAGCCTCACGTGAACCCCCAAGGTGGACACCCCTCACCA GCCTCGCGTGAACCCCCAAGGTGGACACCCCTCACCAGCCTCACGTGAAC CCCCAAGGTGGACACCCCTCACCAGCCTCACGTGAACCCCCAAGGTGGAC ACCCCTCACCAGCCTCGCGTGAACCCCCAAGGTGGA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	416	0.0024	185	c.31+ others(200): Show c.31+3763_31+3764insTCCACCTTGGGGGTTCACGCGAGGCTGGTG AGGGGTGTCCACCTTGGGGGTTCACGTGAGGCTGGTGAGGGGTGTCCACC TTGGGGGTTCACGTGAGGCTGGTGAGGGGTGTCCACCTTGGGGGTTCACG CGAGGCTGGTGAGGGGTGTCCACCTTGGGGGTTCACGTGAGGCTGGTGAG GGGTG	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding	2/3			chr4	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(178): Show GCCCCGCCCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCCACAC CGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGG AGTCCCCCCGGCCGCCCCCGCCCCCCGCCCCCGCCCCCCGCCCCCGCCCC CCCCCCCGCCGCCCCCGCCCCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0279 a0002c0005t0002g0279	1	348	0.0029	185	c.927 others(200): Show c.927+237_927+238insACCCCGCCCCCTCAGTCAGTGGCCCCGCCC CCCTCCACACCGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCC AGATACCTGGAGTCCCCCCGGCCGCCCCCGCCCCCCGCCCCCGCCCCCCG CCCCCGCCCCCCCCCCCGCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCC GCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(178): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATTCTATATATATATATATATATATATATTTCTATATATATATATT TCTATATATATATATTTCTATATATATATATATTTCTATATATATATATT TCTATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	370	0.0027	185	c.56 others(196): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATATATATATATATTCTATATATATATATATATATATATATTT CTATATATATATATTTCTATATATATATATTTCTATATATATATATATTT CTATATATATATATTTCTATATATATATATTTCTATATATATATATATTT C	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRY1_chr12_106986364_107098549	107026147	T T	TATATAAC others(178): Show TATATAACATATATAACATATATATGTTATATATGTTATATATGTAATAT ATATTATATATATATTACATATATATATAAAATATATATATATTACATAT ATATATAAAATATATATATATATTACATATATATATAAAATATATATATA TATTACATATATATATAAAATATATATATATATTAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	320	0.0031	185	c.159 others(202): Show c.159-3956_159-3955insGTAATATATATATATATTTTATATATAT ATGTAATATATATATATATTTTATATATATATGTAATATATATATATATT TTATATATATATGTAATATATATATATTTTATATATATATGTAATATATA TATAATATATATTACATATATAACATATATAACATATATATGTTATATAT GTTATAT	CRY1	ENSG00000008405.12	transcript	ENST00000008527.10	protein_coding	1/12			chr12	TogoVar
CTSD_chr11_1747755_1768927	1754525	G G	GGGGATGT others(178): Show GGGGATGTGGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGA GGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGATGGA GGGATGGAGGGGATGGAGGGATGGAGGGATAGACAGATGGAGGGGATGGA GGGTCATGGAGAGTCACAGAGGGATGTGGGGATGGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG02683.hp2 HG00741.hp2 HG01081.hp1 HG02683.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0020 a0002c0003t0002g0020	3	386	0.0078	185	c.827 others(200): Show c.827+380_827+381insTCCATCCCCACATCCCTCTGTGACTCTCCA TGACCCTCCATCCCCTCCATCTGTCTATCCCTCCATCCCTCCATCCCCTC CATCCCTCCATCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCTCC ATCCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCTCCATCCCCAC ATCCC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(178): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC TCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp2 others(109): Show HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01070.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02258.hp1 HG02280.hp1 HG02572.hp2 HG02630.hp2 HG02723.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0008 a0010 a0001 a0008 a0010	a0001c0001 a0001c0010 a0008c0013 others(1): Show a0001c0001 a0001c0010 a0008c0013 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0010t0002 a0008c0013t0002 a0010c0012t0002	a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0002g0001 others(74): Show a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0056 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0187 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0003g0043 a0001c0010t0002g0114 a0008c0013t0002g0147 a0010c0012t0002g0129	112	292	0.3836	185	c.165 others(200): Show c.165+476_165+477insGGGAGGGGAGGGGGGAGGAGGGGAGGGGAG GGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGAGGAGAGGGG AGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGGAGAGGAGAGGAGGGGAG GGGAAGGGGGAGGGGAGAGGGGAGGGGGAGGGGAGAGGAGTGGGGAGGAG AGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(178): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCTCTCCCCTCCCCT CCTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC TCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0168 a0005c0009t0002g0168	1	292	0.0034	185	c.165 others(200): Show c.165+476_165+477insGGGAGGGGAGGGGGGAGGAGGGGAGGGGAG GGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGAGGAGAGGGG AGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGGAGAGGAGAGGAGGGGAG GGGAGGAGGGGAGGGGAGAGGGAGGGGGAGGGGAGAGGAGTGGGGAGGAG AGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
CYP3A5_chr7_99643194_99684996	99675643	T T	TCTCCTCC others(178): Show TCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCCTTCC CCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCC CCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	292	0.0034	185	c.165 others(200): Show c.165+471_165+472insGGGAGGGGAGGGGAGGGGGGAGGAGGGGAG GGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGAGGAG AGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGGAGAGGAGAGGAG GGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGGGAGGGGAGAGGAGTGGGG AGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
CYP4F3_chr19_15635897_15667825	15650738	T T	TTCTTTCT others(178): Show TTCTTTCTTTCTTTCTTTTTCTCTCTTTCTTTCTTTCTCTTTCTTTCTTT CTTTTCCTTCCTTCCTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCGT TCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTT TCTTTCTCTTTCTCTTTCTTTCTTTCTTTCTTTTCC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	424	0.0024	185	c.918 others(200): Show c.918+556_918+557insCTTTCTTTCTTTCTTTTTCTCTCTTTCTTT CTTTCTCTTTCTTTCTTTCTTTTCCTTCCTTCCTTCCATCTTTCTTTCTT TCTTTTTCTTTCGTTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTT CTTTCTTTCTTTCTTCTTTCTTTCTCTTTCTCTTTCTTTCTTTCTTTCTT TTCCT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
DCLK2_chr4_150073445_150262438	150251133	T T	TCCCCCAC others(178): Show TCCCCCACACACCCCCCAACACCCCCACACCCCCACACACCCCCCACACA CCCCCCACACCCCCAAATCCCCCACACCCCCCACATCTCCCCACACCCCC CACATCCCCACACCCCCATCCCCCACACTCCCCACACCCCCCACACCCCC CACATCCCCACACACCACACATCCCCCACACCCCAA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	116	0.0086	185	c.207 others(204): Show c.2073+1449_2073+1450insCCCCCACACACCCCCCAACACCCCCA CACCCCCACACACCCCCCACACACCCCCCACACCCCCAAATCCCCCACAC CCCCCACATCTCCCCACACCCCCCACATCCCCACACCCCCATCCCCCACA CTCCCCACACCCCCCACACCCCCCACATCCCCACACACCACACATCCCCC ACACCCCAA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DCLK2_chr4_150073445_150262438	150251256	C C	CCCCCCAC others(178): Show CCCCCCACACCCCCCACATCCCCACACACCACAAATCCTCCACACCCCCC AACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCAACACC CCCACACCTCCCACACCCCCCAAATCCCCCACACCCCCCACATCCCCCAT ACCCCTCACACCACACATTCCCTCACACCCCTCACA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	116	0.0086	185	c.207 others(204): Show c.2073+1574_2073+1575insCCCACACCCCCCACATCCCCACACAC CACAAATCCTCCACACCCCCCAACACCCCCACACACCCCCCACACCACAC ATCCCTCACACCCCCAACACCCCCACACCTCCCACACCCCCCAAATCCCC CACACCCCCCACATCCCCCATACCCCTCACACCACACATTCCCTCACACC CCTCACACC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DENND6A_chr3_57620454_57698077	57695315	C C	CAAAAAAG others(178): Show CAAAAAAGAACATAAGTTGTTCCACAGGGCTGGTTCTTCGACGCATAGAC ACAAACTGCAATTCTGTGAAGTGTTGCTTTATAATATTGGGTTAAGGAGA AGGTCAAGGCTGCAGTGAGCCATCACTGTGCCACTCTACTCCAGCCTGGG CAACACAGCAAGACCCTGTGTCAAAAACCAGCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	332	0.0030	185	c.-22 others(196): Show c.-2298_-2297insTGGTGCTGGTTTTTGACACAGGGTCTTGCTGTGT TGCCCAGGCTGGAGTAGAGTGGCACAGTGATGGCTCACTGCAGCCTTGAC CTTCTCCTTAACCCAATATTATAAAGCAACACTTCACAGAATTGCAGTTT GTGTCTATGCGTCGAAGAACCAGCCCTGTGGAACAACTTATGTTCTTTTT T	DENND6A	ENSG00000174839.13	transcript	ENST00000311128.10	protein_coding		2239		chr3	TogoVar
DGKD_chr2_233349494_233477098	233397214	G G	GGTGCCAG others(178): Show GGTGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGC CAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGCCA GAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGAGGGGGGGCAGCAGA GTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCA	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0225 a0001c0001t0029g0225	1	336	0.0030	185	c.348 others(202): Show c.348+6732_348+6733insTGCCAGAGTGAGAGGACTCCAGAGGGGA CCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGG GTGGCTGGGGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGT GGCTGAGGGGGGGCAGCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGG CTGGCAG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233397300	T T	TGGGGGGG others(178): Show TGGGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGA GGGGGGCAGCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAG AGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCC AGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02071.hp2 HG01257.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0217 a0001c0001t0003g0196 a0001c0001t0003g0217	2	336	0.0060	185	c.348 others(202): Show c.348+6979_348+6980insTCCAGAGGGGACCAGGGTGGCTGGGGGG GGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGAGGGGGG CAGCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCA GAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTG AGAGGAC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233397300	T T	TGGGGGGG others(178): Show TGGGGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTG AGGGGGGCAGCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCA GAGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGC CAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	336	0.0030	185	c.348 others(202): Show c.348+6827_348+6828insGCCAGAGCGAGAGGACACCAGAGGGGAC CAGGGTGGCTGAGGGGGGCAGCAGAGTGAGAGGACTCCAGAGGGGACCAG GGTGGCTGGCAGAGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGG CTGGCAGAGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGG GGGGGGG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2B_chr12_50499985_50753657	50593796	T T	TCCCCCCT others(178): Show TCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA20905.hp1 HG03492.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0141 a0001c0001t0001g0142	2	284	0.0070	185	c.101 others(204): Show c.101-32176_101-32175insCCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCCCCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DLGAP2_chr8_732628_1713476	1016696	T T	TGACCAGG others(178): Show TGACCAGGACAGACGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCC ACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAG GACAGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTG TGTGTGACCAGGACAGACGACGCCTCCACTGTGTGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0039 a0001c0002t0009g0039	1	40	0.0250	185	c.73+ others(204): Show c.73+108744_73+108745insCCTCCACTGTGTGTGTGACCAGGACA GACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTG TGTGACCAGGACAGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCC TCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGAGACCA GGACAGACG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH10_chr12_123757301_123940714	123912128	G G	GGGGGGGT others(178): Show GGGGGGGTCTGTCCCGGGGGGTCTGTCCCGGGGGGGTCTGTCCTGGGGGG GGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCT GTTCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCC TGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0040 a0040	a0040c0087 a0040c0087	a0040c0087t0001 a0040c0087t0001	a0040c0087t0001g0015 a0040c0087t0001g0015	1	170	0.0059	185	c.101 others(204): Show c.10135-965_10135-964insGTCTGTCCCGGGGGGTCTGTCCCGGG GGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGG TCTGTCCTGGGGGGGTCTGTTCTGGGGGGGGTCTGTCCTGGGGGGTCTGT CCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCC TGGTGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(178): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATGATATATATATCCCATATATATGATATATATATGATATATATGAT ATATATGGGATATATATATCATATATATATCATATATATGGGATATATAT ATCATATATATCATATATATGGGATATATATATCAT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG04199.hp1 NA21309.hp1 HG02273.hp2 HG04199.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0044 a0001c0001t0001g0135 a0001c0001t0002g0015 a0001c0001t0001g0044 a0001c0001t0001g0135 a0001c0001t0002g0015	3	336	0.0089	185	c.22- others(202): Show c.22-13175_22-13174insATGATATATATATCCCATATATATGATA TATATGATATATATATCCCATATATATGATATATATATGATATATATATC CCATATATATCATATATATCATATATATATCATATATATGGGATATATAT ATCATATATATATCATATATATATCATATATATGGGATATATATATCATA TATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DOCK1_chr10_126900428_127457516	127362922	T T	TACACATC others(178): Show TACACATCCCCACACACACATACACATGCACGTCCCCCCACACACATACA CATGCACATCCCCACACACACACACACACACACACACACATGCGCATCCC CACACACACACACATACACATACACATCCCCCCCACACACACGCACATCC CCACACACACGTACACATGCACATCCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0123 a0001c0028t0001g0123	1	136	0.0074	185	c.343 others(202): Show c.3432+716_3432+717insCCCCACACACACATACACATGCACGTCC CCCCACACACATACACATGCACATCCCCACACACACACACACACACACAC ACACATGCGCATCCCCACACACACACACATACACATACACATCCCCCCCA CACACACGCACATCCCCACACACACGTACACATGCACATCCCCACACACA CACACAT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	33/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOP1A_chr6_83062671_83173471	83145181	G G	GTATATAT others(178): Show GTATATATATAATATATATAATATATATATAATATGTATATATAATATAT ATATAATATGTATATATAATATATATATAATATATATATTATATATAATA TATATATATAATATATATATAATATATATATTATATATATAATATATATA TAATATATATATTATATATATATAATATATATATAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	298	0.0034	185	c.554 others(202): Show c.5542-324_5542-323insATATATATATAATATGTATATATAATAT ATATATAATATGTATATATAATATATATATAATATATATATTATATATAA TATATATATATAATATATATATAATATATATATTATATATATAATATATA TATAATATATATATTATATATATATAATATATATATAATATATATATAAT ATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(178): Show AATATATATAATATGTATATATAATATATATATAATATGTATAATATATA TATAATATATATATAATATATATAATATATATATAATATATATATTATAT ATATAATATATATATTTAAAAGTATATATATATAATATATATATAATATA TATATAATATATATATAATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG01099.hp2 others(5): Show HG00408.hp2 HG00621.hp1 HG01099.hp2 HG02074.hp2 HG02738.hp1 NA18954.hp2 NA18972.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0017t0001 a0001c0001t0001 a0001c0017t0001	a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 others(5): Show a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0017t0001g0272	8	298	0.0269	185	c.554 others(202): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATAATATATATATAATATATATATAATATATATAATATATAT ATAATATATATATTATATATATAATATATATATTTAAAAGTATATATATA TAATATATATATAATATATATATAATATATATATAATATATATAATATAT ATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(178): Show AATATATATAATATGTATATATAATATATATATAATATGTATATATAATA TATATATTATATATATAATATATATATAATATATATAATATATATATAAT ATATATATTATATATATTATATATATATATATATATATATATATAATATA TATATAATATATATATTTAAAAGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	298	0.0034	185	c.554 others(202): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATTATATATATAATATATATATAATAT ATATAATATATATATAATATATATATTATATATATTATATATATATATAT ATATATATATATAATATATATATAATATATATATTTAAAAGTATATATAT ATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPEP1_chr16_89608642_89643433	89618921	T T	TCCCCTCC others(178): Show TCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCC CTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	250	0.0040	185	c.-10 others(204): Show c.-107+5205_-107+5206insCTCCCTGCAGCTCCCTGCCCCCCCCG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CTGCTCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DYNC2I1_chr7_158851558_158951189	158916764	T T	TAAGGATG others(178): Show TAAGGATGATTGTGAAACGTCGCTGGTTGACATTAAGGATGACTGTGAAA CATCGACAGGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACATGCT GGTTGAGATTAAGGATGATTGTGAAACCTCGACACAGTGGTTGATATTAA GGATGATTGTGAAACCTCTACACGCTGGTTGAGATC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01123.hp2 HG01243.hp1 others(4): Show HG00733.hp2 HG01123.hp2 HG01243.hp1 HG01346.hp2 HG01516.hp1 HG01975.hp2 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0055 a0002c0002t0001g0066 others(4): Show a0002c0002t0001g0040 a0002c0002t0001g0055 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0073 a0002c0002t0001g0080	7	274	0.0256	185	c.179 others(204): Show c.1792-1955_1792-1954insCTGGTTGACATTAAGGATGACTGTGA AACATCGACAGGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACATG CTGGTTGAGATTAAGGATGATTGTGAAACCTCGACACAGTGGTTGATATT AAGGATGATTGTGAAACCTCTACACGCTGGTTGAGATCAAGGATGATTGT GAAACGTCG	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158916764	T T	TAAGGATG others(178): Show TAAGGATGATTGTGAAACGTCGCTGGTTGACATTAAGGATGACTGTGAAA CGTCGACAGGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACATGCT GGTTGAGATTAAGGATGATTGTGAAACCTCGACACAGTGGTTGATATTAA GGATGATTGTGAAACCTCTACACGCTGGTTGAGATC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	274	0.0037	185	c.179 others(204): Show c.1792-1955_1792-1954insCTGGTTGACATTAAGGATGACTGTGA AACGTCGACAGGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACATG CTGGTTGAGATTAAGGATGATTGTGAAACCTCGACACAGTGGTTGATATT AAGGATGATTGTGAAACCTCTACACGCTGGTTGAGATCAAGGATGATTGT GAAACGTCG	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYSF_chr2_71448561_71691763	71479156	T T	TAAGAGCC others(178): Show TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18947.hp1 HG01433.hp1 NA18947.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0001 a0001c0003t0001 a0001c0006t0001	a0001c0003t0001g0157 a0001c0006t0001g0070 a0001c0003t0001g0157 a0001c0006t0001g0070	2	192	0.0104	185	c.89- others(200): Show c.89-1720_89-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAGCC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	1/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71479156	T T	TAAGAGCC others(178): Show TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18947.hp2 HG01433.hp1 NA18947.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0002 a0001c0006t0001 a0001c0003t0002 a0001c0006t0001	a0001c0003t0002g0161 a0001c0006t0001g0121 a0001c0003t0002g0161 a0001c0006t0001g0121	2	208	0.0096	185	c.92- others(200): Show c.92-1720_92-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAGCC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	1/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF4G3_chr1_20801479_21181897	21180026	T T	TATATTAT others(178): Show TATATTATATTATATATAATATATATTACATAATATATTACATATATTAT GTAATATATGTTATATATTACATATAATATATTATATGTAATATATAATA TATTATATATTATATATTATACATAATATATAATATATAATATATAATAT ATATATTATGTATAATATATATATAATATATTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	312	0.0032	185	c.-37 others(196): Show c.-3761_-3760insGTATAATATATTATATATATATTATACATAATAT ATATATTATATATTATATATTATATATTATGTATAATATATAATATATAA TATATTATATATTACATATAATATATTATATGTAATATATAACATATATT ACATAATATATGTAATATATTATGTAATATATATTATATATAATATAATA T	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3130		chr1	TogoVar
EIPR1_chr2_3183970_3382818	3315283	C C	CCCCCTAC others(178): Show CCCCCTACCACCACGATCACCACCATCCCCATCCACACCCCCTACCACCA CCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCAT CCCTATCCACACCCCCTACCACCATCCTCACCACCATCCCCATCCACAGC CCCTACCACCACCATCACCACCATCCCCATCCACAG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	250	0.0040	185	c.259 others(204): Show c.259+22733_259+22734insCTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGGCTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGT GTGGATAGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATG GTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATCGTGG TGGTAGGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3316062	C C	CACCACCA others(178): Show CACCACCATCCTCACCACCATCCCCATACACACCCCCTACCACCACCATC ACCACCATCCCCATACACACCCCCTACCACCACCATCACCACCATCCCCA TCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTA CCACCACCATCACCACCATCCCCACACACACCCCCT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	250	0.0040	185	c.259 others(204): Show c.259+21954_259+21955insAGGGGGTGTGTGTGGGGATGGTGGTG ATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAG GGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGG GGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGAG GATGGTGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EPHX2_chr8_27486143_27550564	27501387	C C	CTTCTCCT others(178): Show CTTCTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCT TCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTT CTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTC TTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	374	0.0027	185	c.186 others(200): Show c.186+381_186+382insCCTTCTTCCTTCTTCCTTCTTCCTTCTTCC TTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCT TCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTT CTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTC TTTCT	EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar

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