Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RERE_chr1_8347404_8822640	8385968	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0002 a0001c0030t0002	a0001c0030t0002g0182 a0001c0030t0002g0182	1	204	0.0049	-15	c.128 others(36): Show c.1285-20009_1285-19995delTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8386018	ATATATTT others(8): Show ATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0053 a0001c0002t0013g0053	1	204	0.0049	-15	c.128 others(36): Show c.1285-20059_1285-20045delAAAAAAAAAAATATA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8386020	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0204 a0001c0005t0009g0204	1	204	0.0049	-15	c.128 others(36): Show c.1285-20061_1285-20047delAAAAAAAAAAAAATA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8443875	TGGCAGCC others(8): Show TGGCAGCCTCTGCCAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00597.hp2 others(39): Show HG00140.hp2 HG00280.hp1 HG00597.hp2 HG00609.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG02004.hp2 HG02027.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02486.hp2 HG02523.hp1 HG02698.hp2 HG03491.hp2 HG03688.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp2 NA18944.hp1 NA18964.hp2 NA18967.hp1 NA18983.hp2 NA18985.hp2 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19070.hp2 NA19074.hp1 NA19085.hp2 NA19090.hp1 NA20300.hp1	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0008 a0013	a0001c0001 a0001c0004 a0001c0007 others(5): Show a0001c0001 a0001c0004 a0001c0007 a0001c0019 a0002c0006 a0007c0025 a0008c0020 a0013c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0036 a0001c0004t0001 a0001c0004t0003 a0001c0007t0004 a0001c0019t0001 a0002c0006t0003 a0007c0025t0003 a0008c0020t0001 a0013c0021t0001	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0038 others(39): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0003g0124 a0001c0001t0006g0170 a0001c0001t0006g0184 a0001c0001t0036g0194 a0001c0004t0001g0003 a0001c0004t0001g0049 a0001c0004t0003g0092 a0001c0007t0004g0044 a0001c0007t0004g0047 a0001c0019t0001g0005 a0002c0006t0003g0139 a0007c0025t0003g0135 a0008c0020t0001g0062 a0013c0021t0001g0069	42	204	0.2059	-15	c.120 others(36): Show c.1204-21083_1204-21069delTTGGCAGAGGCTGCC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	11/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8635942	TTTATTTT others(8): Show TTTATTTTATCTTATC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00639.hp2 others(17): Show HG00280.hp1 HG00544.hp2 HG00639.hp2 HG01358.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp2 HG03540.hp2 HG03654.hp2 HG03831.hp2 NA18939.hp1 NA18946.hp1 NA18973.hp1 NA18985.hp2 NA18993.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0003 a0001c0010 others(3): Show a0001c0001 a0001c0003 a0001c0010 a0001c0011 a0004c0017 a0009c0031	a0001c0001t0001 a0001c0001t0036 a0001c0003t0004 others(6): Show a0001c0001t0001 a0001c0001t0036 a0001c0003t0004 a0001c0003t0015 a0001c0010t0007 a0001c0010t0013 a0001c0011t0007 a0004c0017t0004 a0009c0031t0007	a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0036g0194 others(17): Show a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0036g0194 a0001c0003t0004g0007 a0001c0003t0004g0010 a0001c0003t0004g0011 a0001c0003t0004g0014 a0001c0003t0004g0019 a0001c0003t0004g0035 a0001c0003t0004g0036 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0015g0147 a0001c0010t0007g0026 a0001c0010t0013g0024 a0001c0011t0007g0027 a0001c0011t0007g0028 a0001c0011t0007g0029 a0004c0017t0004g0012 a0009c0031t0007g0025	20	204	0.0980	-15	c.326 others(34): Show c.326-11577_326-11563delGATAAGATAAAATAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	2/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15148847	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	300	0.0033	-15	c.62- others(32): Show c.62-27743_62-27729delAAAAAAAAAAAAAAA	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
REST_chr4_56902900_56940844	56922276	GTATTATT others(8): Show GTATTATTATTATTAT	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19082.hp2 NA18971.hp1 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0263 a0002c0002t0001g0267 a0002c0002t0001g0263 a0002c0002t0001g0267	2	408	0.0049	-15	c.982 others(32): Show c.982+2430_982+2444delTTATTATTATTATTA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
RETREG2_chr2_219173275_219190475	219188597	TTTTTATT others(8): Show TTTTTATTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp2 HG02109.hp2 others(14): Show HG02004.hp1 HG02004.hp2 HG02109.hp2 HG02258.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG03130.hp1 HG03540.hp2 HG03579.hp1 HG04204.hp1 NA18970.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0002 a0001c0003 a0002c0010 others(1): Show a0001c0002 a0001c0003 a0002c0010 a0009c0018	a0001c0002t0004 a0001c0002t0007 a0001c0002t0013 others(6): Show a0001c0002t0004 a0001c0002t0007 a0001c0002t0013 a0001c0002t0014 a0001c0002t0028 a0001c0003t0002 a0002c0010t0021 a0002c0010t0037 a0009c0018t0003	a0001c0002t0004g0003 a0001c0002t0007g0001 a0001c0002t0013g0001 others(7): Show a0001c0002t0004g0003 a0001c0002t0007g0001 a0001c0002t0013g0001 a0001c0002t0014g0001 a0001c0002t0014g0005 a0001c0002t0028g0024 a0001c0003t0002g0001 a0002c0010t0021g0011 a0002c0010t0037g0011 a0009c0018t0003g0003	17	430	0.0395	-15	c.59 others(26): Show c.5969_*5983delTTTTATTTTATTTTA	RETREG2	ENSG00000144567.11	transcript	ENST00000430297.7	protein_coding		3123		chr2	TogoVar
RETREG3_chr17_42574515_42614374	42596359	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02809.hp1 HG03098.hp1 others(3): Show HG01243.hp2 HG02809.hp1 HG03098.hp1 HG06807.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0020	a0001c0001t0003g0167 a0001c0001t0005g0322 a0001c0001t0009g0332 others(3): Show a0001c0001t0003g0167 a0001c0001t0005g0322 a0001c0001t0009g0332 a0001c0001t0009g0333 a0001c0001t0009g0335 a0001c0001t0020g0321	6	360	0.0167	-15	c.240 others(32): Show c.240-4212_240-4198delTTTTTTTTTTTTTTT	RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding	1/8			chr17	TogoVar
RETREG3_chr17_42574515_42614374	42597602	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	360	0.0028	-15	c.240 others(32): Show c.240-5455_240-5441delTATATATATATATAT	RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding	1/8			chr17	TogoVar
RETREG3_chr17_42574515_42614374	42597604	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	360	0.0028	-15	c.240 others(32): Show c.240-5457_240-5443delTATATATATATATAT	RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding	1/8			chr17	TogoVar
RETREG3_chr17_42574515_42614374	42597605	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01934.hp2 HG02523.hp1 others(8): Show HG00597.hp2 HG01934.hp2 HG02523.hp1 HG03688.hp2 NA18939.hp1 NA18955.hp1 NA18994.hp2 NA19000.hp2 NA19063.hp1 NA19077.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0029 a0001c0001t0001g0064 a0001c0001t0001g0066 others(8): Show a0001c0001t0001g0029 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0012g0065 a0001c0001t0012g0096	11	360	0.0306	-15	c.240 others(32): Show c.240-5458_240-5444delATATATATATATATA	RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding	1/8			chr17	TogoVar
RETREG3_chr17_42574515_42614374	42597607	ATATATAT others(8): Show ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00673.hp2 others(26): Show HG00099.hp2 HG00544.hp2 HG00673.hp2 HG00738.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01993.hp2 HG02027.hp2 HG02056.hp2 HG02083.hp1 HG02132.hp2 HG02809.hp2 HG03490.hp2 NA18943.hp1 NA18964.hp1 NA18965.hp1 NA18968.hp2 NA18972.hp2 NA18983.hp2 NA18995.hp2 NA19005.hp2 NA19058.hp1 NA19058.hp2 NA19070.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0022 a0001c0008t0001 a0001c0001t0001 a0001c0001t0022 a0001c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0036 others(25): Show a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0022g0323 a0001c0008t0001g0325	29	360	0.0806	-15	c.240 others(32): Show c.240-5460_240-5446delAAATATATATATATA	RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding	1/8			chr17	TogoVar
RETREG3_chr17_42574515_42614374	42597609	ATATATAT others(8): Show ATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01934.hp1 HG01975.hp1 others(19): Show HG01928.hp2 HG01934.hp1 HG01975.hp1 HG02015.hp2 HG02071.hp1 HG02155.hp1 HG02293.hp2 HG02698.hp1 HG03540.hp2 NA18940.hp2 NA18948.hp1 NA18956.hp1 NA18971.hp1 NA18974.hp2 NA18983.hp1 NA19004.hp2 NA19007.hp2 NA19057.hp2 NA19068.hp1 NA19087.hp1 NA19088.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0021 a0002c0002t0001 a0001c0001t0001 a0001c0001t0021 a0002c0002t0001	a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 others(19): Show a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0021g0113 a0002c0002t0001g0039 a0002c0002t0001g0082	22	360	0.0611	-15	c.240 others(32): Show c.240-5462_240-5448delAAAAATATATATATA	RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding	1/8			chr17	TogoVar
RETREG3_chr17_42574515_42614374	42597611	ATATATAT others(8): Show ATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	360	0.0028	-15	c.240 others(32): Show c.240-5464_240-5450delAAAAAAATATATATA	RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding	1/8			chr17	TogoVar
RETSAT_chr2_85336955_85359528	85359274	GGTACTAT others(8): Show GGTACTATCAAGCTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01081.hp1 others(1): Show HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01515.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0021 a0001c0001 a0009c0021	a0001c0001t0004 a0009c0021t0004 a0001c0001t0004 a0009c0021t0004	a0001c0001t0004g0005 a0009c0021t0004g0050 a0001c0001t0004g0005 a0009c0021t0004g0050	4	384	0.0104	-15	c.-47 others(26): Show c.-4782_-4768delACAGCTTGATAGTAC	RETSAT	ENSG00000042445.14	transcript	ENST00000295802.9	protein_coding		4747		chr2	TogoVar
REV1_chr2_99395477_99495017	99454550	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02886.hp1 HG02976.hp2 HG01258.hp2 HG02886.hp1 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0228 a0002c0002t0001g0279 a0002c0002t0003g0276 a0002c0002t0001g0228 a0002c0002t0001g0279 a0002c0002t0003g0276	3	324	0.0093	-15	c.182 others(32): Show c.182-5061_182-5047delTTTTTTTTTTTTTTT	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	3/22			chr2	TogoVar
REV3L_chr6_111294033_111488218	111303686	TTTAACAG others(8): Show TTTAACAGACTATGAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19085.hp1 HG02647.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0222 a0002c0002t0001g0185 a0002c0002t0001g0222	2	288	0.0069	-15	c.925 others(34): Show c.9253-3545_9253-3531delGTCATAGTCTGTTAA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31			chr6	TogoVar
REV3L_chr6_111294033_111488218	111303701	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG04228.hp2 NA18906.hp1 HG02818.hp1 HG04228.hp2 NA18906.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0014 a0001c0001 a0011c0014	a0001c0001t0001 a0011c0014t0001 a0001c0001t0001 a0011c0014t0001	a0001c0001t0001g0078 a0001c0001t0001g0113 a0011c0014t0001g0121 a0001c0001t0001g0078 a0001c0001t0001g0113 a0011c0014t0001g0121	3	288	0.0104	-15	c.925 others(34): Show c.9253-3560_9253-3546delAAAAAAAAAAAAAAA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31			chr6	TogoVar
REV3L_chr6_111294033_111488218	111408602	AAAAACAA others(8): Show AAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02818.hp1 HG03453.hp1 HG01261.hp2 HG02818.hp1 HG03453.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0022 a0003c0008 a0001c0001 a0002c0022 a0003c0008	a0001c0001t0001 a0002c0022t0003 a0003c0008t0004 a0001c0001t0001 a0002c0022t0003 a0003c0008t0004	a0001c0001t0001g0078 a0002c0022t0003g0249 a0003c0008t0004g0281 a0001c0001t0001g0078 a0002c0022t0003g0249 a0003c0008t0004g0281	3	288	0.0104	-15	c.404 others(32): Show c.404+2863_404+2877delGTTTTGTTTTGTTTT	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	3/31			chr6	TogoVar
REXO5_chr16_20801527_20854665	20820529	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	372	0.0027	-15	c.476 others(32): Show c.476-1232_476-1218delATATATATATATATA	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19			chr16	TogoVar
REXO5_chr16_20801527_20854665	20820530	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01168.hp2 HG01169.hp1 others(4): Show HG00558.hp1 HG01168.hp2 HG01169.hp1 HG01496.hp1 HG01891.hp1 HG02056.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0137 a0001c0001t0001g0140 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0154	7	372	0.0188	-15	c.476 others(32): Show c.476-1230_476-1216delATATATATATATATT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
REXO5_chr16_20801527_20854665	20820532	ATATATAT others(8): Show ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02886.hp1 others(2): Show HG02258.hp1 HG02559.hp1 HG02886.hp1 HG03130.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0144 others(2): Show a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0156	5	372	0.0134	-15	c.476 others(32): Show c.476-1228_476-1214delATATATATATATTTT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
REXO5_chr16_20801527_20854665	20820534	ATATATAT others(8): Show ATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02257.hp1 NA18964.hp1 HG02165.hp1 HG02257.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0134 a0001c0001t0001g0224 a0001c0001t0001g0061 a0001c0001t0001g0134 a0001c0001t0001g0224	3	372	0.0081	-15	c.476 others(32): Show c.476-1226_476-1212delATATATATATTTTTT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
REXO5_chr16_20801527_20854665	20820536	ATATATAT others(8): Show ATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18522.hp1 NA18947.hp1 HG00621.hp2 NA18522.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0062 a0001c0001t0001g0298 a0001c0001t0003g0322 a0001c0001t0001g0062 a0001c0001t0001g0298 a0001c0001t0003g0322	3	372	0.0081	-15	c.476 others(32): Show c.476-1224_476-1210delATATATATTTTTTTT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
REXO5_chr16_20801527_20854665	20850973	CATAAGAT others(8): Show CATAAGATCTGGTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	372	0.0027	-15	c.14 others(26): Show c.1494_*1508delATAAGATCTGGTCCT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding		1309		chr16	TogoVar
RFC1_chr4_39282456_39371362	39292940	CAGCCTGT others(8): Show CAGCCTGTATACGTAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0089 a0001c0003t0001g0089	1	276	0.0036	-15	c.295 others(34): Show c.2955-1103_2955-1089delTTACGTATACAGGCT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	22/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39342007	AGATTATT others(8): Show AGATTATTGACTTTGG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	276	0.0036	-15	c.331 others(30): Show c.331+323_331+337delCCAAAGTCAATAATC	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39348424	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG01169.hp1 others(12): Show HG00597.hp2 HG00673.hp2 HG01169.hp1 HG01978.hp1 HG02280.hp1 HG02622.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03139.hp2 NA18954.hp1 NA19064.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0006c0011	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0004t0001 a0001c0004t0004 a0006c0011t0003	a0001c0001t0001g0025 a0001c0001t0005g0082 a0001c0002t0002g0026 others(12): Show a0001c0001t0001g0025 a0001c0001t0005g0082 a0001c0002t0002g0026 a0001c0002t0002g0106 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0147 a0001c0002t0002g0175 a0001c0004t0001g0092 a0001c0004t0001g0094 a0001c0004t0004g0269 a0001c0004t0004g0270 a0001c0004t0004g0271 a0001c0004t0004g0273 a0006c0011t0003g0028	15	276	0.0544	-15	c.132 others(32): Show c.132+2909_132+2923delCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFK_chr9_76380526_76399426	76383964	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0096 a0001c0001t0025g0096	1	408	0.0025	-15	c.34 others(26): Show c.3420_*3434delAAAAAAAAAAAAAAA	RFK	ENSG00000135002.12	transcript	ENST00000376736.6	protein_coding		1561		chr9	TogoVar
RFT1_chr3_53083483_53135435	53092656	TTGCCCTG others(8): Show TTGCCCTGGACAAGGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(64): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG01070.hp2 HG01081.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01517.hp1 HG01884.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18945.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18965.hp1 NA18966.hp2 NA18969.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp2 NA19012.hp1 NA19054.hp1 NA19058.hp1 NA19064.hp1 NA19068.hp2 NA19081.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0007c0007t0003	a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0008 others(48): Show a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0125 a0001c0001t0003g0192 a0001c0001t0003g0257 a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0005g0064 a0001c0001t0007g0005 a0001c0001t0007g0013 a0001c0001t0007g0052 a0001c0001t0007g0053 a0001c0001t0007g0055 a0001c0001t0007g0061 a0001c0001t0007g0063 a0001c0001t0007g0073 a0001c0001t0007g0088 a0001c0001t0007g0156 a0001c0001t0013g0068 a0007c0007t0003g0042	67	324	0.2068	-15	c.120 others(30): Show c.1209-53_1209-39delGCCTTGTCCAGGGCA	RFT1	ENSG00000163933.10	transcript	ENST00000296292.8	protein_coding	11/12			chr3	TogoVar
RFT1_chr3_53083483_53135435	53106391	AACAGTAC others(8): Show AACAGTACTTTCTTAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18522.hp2 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0105 a0001c0001t0002g0106	2	324	0.0062	-15	c.826 others(30): Show c.826+413_826+427delATAAGAAAGTACTGT	RFT1	ENSG00000163933.10	transcript	ENST00000296292.8	protein_coding	8/12			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16384761	CAAATAAA others(8): Show CAAATAAAATAAAATT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0267 a0001c0001t0001g0268	2	268	0.0075	-15	c.442 others(32): Show c.442-6674_442-6660delAATTTTATTTTATTT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16391867	TTGTTTTT others(8): Show TTGTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG01106.hp2 others(4): Show HG00099.hp1 HG00642.hp1 HG01106.hp2 HG01978.hp1 HG03831.hp1 HG04184.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0011	a0001c0001t0001g0147 a0001c0001t0001g0216 a0001c0001t0001g0230 others(4): Show a0001c0001t0001g0147 a0001c0001t0001g0216 a0001c0001t0001g0230 a0001c0002t0002g0059 a0001c0002t0002g0088 a0001c0002t0007g0051 a0001c0002t0011g0053	7	268	0.0261	-15	c.442 others(34): Show c.442-13780_442-13766delCAAAAAAAAAAAACA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN2_chr2_197563224_197680587	197625663	TCTCTCCT others(8): Show TCTCTCCTCTCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp2 HG02615.hp1 others(2): Show HG02145.hp2 HG02486.hp2 HG02615.hp1 HG02723.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0069 a0001c0001t0003g0160 a0001c0001t0012g0142 others(2): Show a0001c0001t0003g0069 a0001c0001t0003g0160 a0001c0001t0012g0142 a0001c0001t0012g0163 a0001c0001t0012g0190	5	312	0.0160	-15	c.928 others(32): Show c.928+5333_928+5347delGAGAGGAGAGGAGAG	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	5/8			chr2	TogoVar
RFWD3_chr16_74616399_74671877	74646903	TCAACAAC others(8): Show TCAACAACAACAACAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0308 a0002c0001t0001g0308	1	412	0.0024	-15	c.793 others(32): Show c.793-2183_793-2169delTTGTTGTTGTTGTTG	RFWD3	ENSG00000168411.14	transcript	ENST00000361070.9	protein_coding	4/12			chr16	TogoVar
RFX1_chr19_13956530_14011320	14010122	TCAAACCC others(8): Show TCAAACCCACCAAAAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	280	0.0036	-15	c.-40 others(26): Show c.-4087_-4073delGTTTTGGTGGGTTTG	RFX1	ENSG00000132005.9	transcript	ENST00000254325.9	protein_coding		3803		chr19	TogoVar
RFX2_chr19_5988164_6115500	6096430	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02080.hp1 HG02109.hp2 others(15): Show HG02055.hp2 HG02080.hp1 HG02109.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG03139.hp1 HG03486.hp1 HG03834.hp1 HG04184.hp1 NA19030.hp2 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0006c0010t0005	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(15): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0300 a0001c0001t0002g0011 a0001c0001t0003g0009 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0306 a0001c0001t0005g0307 a0001c0001t0008g0301 a0006c0010t0005g0305	18	308	0.0584	-15	c.-9+ others(32): Show c.-9+13948_-9+13962delCAAAACAAAACAAAA	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6098965	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	308	0.0033	-15	c.-9+ others(32): Show c.-9+11413_-9+11427delTTTTTTTTTTTTTTT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX3_chr9_3213297_3531001	3291389	CAAAAACA others(8): Show CAAAAACAAAACAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp1 HG01891.hp2 others(11): Show HG00741.hp1 HG01884.hp1 HG01891.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02647.hp2 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03130.hp2 HG03471.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0016 others(5): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0016 a0001c0001t0023 a0001c0001t0051 a0001c0001t0053 a0001c0001t0072 a0001c0001t0073	a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0142 others(11): Show a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0142 a0001c0001t0008g0003 a0001c0001t0008g0005 a0001c0001t0008g0006 a0001c0001t0008g0184 a0001c0001t0016g0022 a0001c0001t0023g0004 a0001c0001t0023g0072 a0001c0001t0051g0125 a0001c0001t0053g0128 a0001c0001t0072g0193 a0001c0001t0073g0192	14	196	0.0714	-15	c.731 others(32): Show c.731+1673_731+1687delTTTTGTTTTGTTTTT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	6/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3291390	AAAAACAA others(8): Show AAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG03098.hp1 others(1): Show HG01243.hp2 HG02723.hp1 HG03098.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0062 a0001c0001t0069 a0001c0001t0017 a0001c0001t0062 a0001c0001t0069	a0001c0001t0017g0085 a0001c0001t0017g0086 a0001c0001t0062g0059 others(1): Show a0001c0001t0017g0085 a0001c0001t0017g0086 a0001c0001t0062g0059 a0001c0001t0069g0189	4	196	0.0204	-15	c.731 others(32): Show c.731+1672_731+1686delGTTTTGTTTTGTTTT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	6/16			chr9	TogoVar
RFX4_chr12_106578004_106767803	106737162	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 NA20805.hp1 HG02109.hp2 HG02145.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0128 a0001c0002t0001g0131 a0001c0002t0005g0060 a0001c0002t0001g0128 a0001c0002t0001g0131 a0001c0002t0005g0060	3	296	0.0101	-15	c.163 others(34): Show c.1633+4103_1633+4117delTTTTTTTTTTTTTTT	RFX4	ENSG00000111783.13	transcript	ENST00000392842.6	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFX6_chr6_116872242_116937161	116878828	TTATTATT others(8): Show TTATTATTTATTTAAA	T T	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	372	0.0027	-15	c.380 others(30): Show c.380+882_380+896delTTTATTTAAATATTA	RFX6	ENSG00000185002.10	transcript	ENST00000332958.3	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
RFX7_chr15_56082280_56248879	56179759	TCAACACA others(8): Show TCAACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0303 a0001c0003t0005g0303	1	360	0.0028	-15	c.162 others(30): Show c.162-471_162-457delTGTGTGTGTGTGTTG	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	2/9			chr15	TogoVar
RFX8_chr2_101392359_101480112	101462660	GTACTATT others(8): Show GTACTATTATTAATAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00735.hp1 others(83): Show HG00099.hp2 HG00544.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2 HG03688.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18943.hp1 NA18951.hp2 NA18955.hp2 NA18959.hp2 NA18962.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18999.hp1 NA19004.hp2 NA19009.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp2 NA19077.hp2 NA19082.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0009 a0011 a0014 a0015	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0006c0009 a0009c0006 a0011c0012 a0014c0017 a0015c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0003c0003t0001 a0003c0003t0002 a0006c0009t0001 a0006c0009t0002 a0009c0006t0001 a0011c0012t0001 a0014c0017t0001 a0015c0016t0002	a0001c0001t0001g0015 a0001c0001t0001g0107 a0001c0001t0001g0134 others(77): Show a0001c0001t0001g0015 a0001c0001t0001g0107 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0174 a0001c0001t0001g0201 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0307 a0001c0001t0001g0312 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0082 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0003g0098 a0002c0002t0001g0019 a0002c0002t0001g0191 a0002c0002t0001g0211 a0002c0002t0001g0221 a0002c0002t0001g0246 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0263 a0002c0002t0001g0266 a0002c0002t0001g0304 a0002c0002t0002g0029 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0073 a0002c0002t0002g0085 a0002c0002t0002g0088 a0002c0002t0005g0022 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0235 a0003c0003t0002g0030 a0006c0009t0001g0182 a0006c0009t0002g0032 a0009c0006t0001g0158 a0009c0006t0001g0164 a0009c0006t0001g0165 a0011c0012t0001g0175 a0011c0012t0001g0177 a0014c0017t0001g0186 a0015c0016t0002g0065 a0015c0016t0002g0083	86	352	0.2443	-15	c.72+ others(30): Show c.72+4102_72+4116delATATTAATAATAGTA	RFX8	ENSG00000196460.14	transcript	ENST00000428343.6	protein_coding	2/11			chr2	TogoVar
RGCC_chr13_41452550_41475871	41469283	TAATAATA others(8): Show TAATAATAATAATAAG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01256.hp2 HG01258.hp1 others(4): Show HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG02083.hp1 HG03710.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0148 a0001c0002t0001g0162 others(1): Show a0001c0002t0001g0023 a0001c0002t0001g0148 a0001c0002t0001g0162 a0001c0002t0001g0168	7	448	0.0156	-15	c.406 others(30): Show c.406+448_406+462delTAATAATAATAAGAA	RGCC	ENSG00000102760.13	transcript	ENST00000379359.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
RGCC_chr13_41452550_41475871	41469286	TAATAATA others(8): Show TAATAATAATAAGAAG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG01081.hp1 others(20): Show HG00544.hp2 HG00597.hp2 HG01081.hp1 HG01168.hp2 HG01261.hp2 HG01361.hp2 HG01517.hp1 HG01934.hp1 HG02056.hp2 HG02132.hp2 HG02683.hp2 HG02922.hp1 HG02976.hp2 HG03491.hp1 HG03710.hp1 HG03942.hp1 HG04228.hp2 NA18612.hp2 NA18944.hp1 NA18950.hp1 NA18956.hp1 NA18970.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0085 a0001c0001t0001g0108 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0085 a0001c0001t0001g0108 a0001c0001t0001g0133 a0001c0001t0001g0220 a0001c0001t0001g0228 a0001c0002t0001g0003 a0001c0002t0001g0126 a0001c0002t0001g0149 a0001c0002t0001g0163 a0001c0002t0001g0234	23	448	0.0513	-15	c.406 others(30): Show c.406+451_406+465delTAATAATAAGAAGAA	RGCC	ENSG00000102760.13	transcript	ENST00000379359.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
RGCC_chr13_41452550_41475871	41469289	TAATAATA others(8): Show TAATAATAAGAAGAAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00621.hp1 others(35): Show HG00099.hp2 HG00323.hp2 HG00621.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01175.hp2 HG01243.hp1 HG02004.hp1 HG02015.hp2 HG02055.hp2 HG02074.hp2 HG02148.hp2 HG02273.hp1 HG02300.hp2 HG02602.hp1 HG02615.hp1 HG02698.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp2 HG04204.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18962.hp1 NA18969.hp2 NA18973.hp2 NA18983.hp1 NA18987.hp2 NA18997.hp1 NA19010.hp1 NA19058.hp1 NA19064.hp1 NA19089.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0032 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0082 a0001c0001t0001g0109 a0001c0001t0001g0135 a0001c0001t0001g0183 a0001c0001t0001g0221 a0001c0002t0001g0002 a0001c0002t0001g0150 a0001c0002t0001g0155 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0176 a0001c0002t0001g0233 a0001c0002t0001g0235	38	448	0.0848	-15	c.406 others(30): Show c.406+454_406+468delTAATAAGAAGAAGAA	RGCC	ENSG00000102760.13	transcript	ENST00000379359.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
RGCC_chr13_41452550_41475871	41469292	TAATAAGA others(8): Show TAATAAGAAGAAGAAG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00621.hp2 others(28): Show HG00423.hp1 HG00438.hp2 HG00621.hp2 HG01168.hp1 HG01169.hp2 HG01884.hp2 HG01993.hp2 HG02040.hp1 HG02083.hp2 HG02165.hp2 HG02293.hp1 HG02738.hp1 HG02896.hp1 HG03669.hp1 NA18940.hp2 NA18947.hp1 NA18950.hp2 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18972.hp1 NA18974.hp2 NA18984.hp2 NA18993.hp2 NA19003.hp2 NA19011.hp1 NA19054.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0042 a0001c0001t0001g0134 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0042 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0002t0001g0001 a0001c0002t0001g0058 a0001c0002t0001g0169	31	448	0.0692	-15	c.406 others(30): Show c.406+457_406+471delTAAGAAGAAGAAGAA	RGCC	ENSG00000102760.13	transcript	ENST00000379359.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
RGCC_chr13_41452550_41475871	41469295	TAAGAAGA others(8): Show TAAGAAGAAGAAGAAG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01255.hp2 HG01361.hp1 others(9): Show HG00642.hp1 HG01255.hp2 HG01361.hp1 HG01515.hp1 HG02572.hp1 HG03491.hp2 HG03492.hp2 NA18952.hp2 NA18997.hp2 NA19007.hp1 NA19085.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0073 a0001c0001t0001g0217 a0001c0001t0001g0222 others(3): Show a0001c0001t0001g0073 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0002t0001g0013 a0001c0002t0001g0029 a0001c0002t0001g0180	12	448	0.0268	-15	c.406 others(30): Show c.406+481_406+495delGAAGAAGAAGAAGAA	RGCC	ENSG00000102760.13	transcript	ENST00000379359.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr13	TogoVar

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