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
PLEKHG4B_chr5_87168_194966	165629	C C	CTAATGCT others(361): Show CTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAG CTCACACTAATGCTGTGACAGGGGTCGGAGCTCACACTAATGCTCTGACG GGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCT GTGACAGGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACA CTAATGCTGTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGGG CTCACACTAATGCTGTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGG GCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCT GACGGGGCGGGGCTCACAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0055 a0009c0014t0055	a0009c0014t0055g0201 a0009c0014t0055g0201	1	210	0.0048	368	c.347 others(387): Show c.3476+2092_3476+2093insCGGGGCGGGGCTCACAGTAATCCTCT GACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGTCGGAGCTCACACT AATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCT CACACTAATGCTGTGACAGGGGGCGGAGCTCACACTAATGCTCTGACGGG GCGGGGCTCACACTAATGCTGTGACGGGGCGGGGCTCACAGTAATCCTCT GACGGGGCGGGGCTCACACTAATGCTGTGACGGGGCGGGGCTCACAGTAA TGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCA CAGTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165993	G G	GTAATGCT others(361): Show GTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGGCGG GGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACG GGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCT CTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACT AATGCTGTGACAGGGGTCGGAGCTCACACTAATGCTGTGACGGGGCAGAG CTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGG GCGGGGCTCACAGTACTCCTCTGACGGGGCGGAGCTCACACTAATGCTCT GACGGGGTGGAGCTCACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0006 a0006	a0006c0068 a0006c0068	a0006c0068t0058 a0006c0068t0058	a0006c0068t0058g0194 a0006c0068t0058g0194	1	210	0.0048	368	c.347 others(387): Show c.3476+2449_3476+2450insGCTCTGACGGGGCGGAGCTCACACTA ATGCTGTGACAGGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGC TCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGG CGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTG ACGGGGCGGGGCTCACACTAATGCTGTGACAGGGGTCGGAGCTCACACTA ATGCTGTGACGGGGCAGAGCTCACACTAATGCTCTGACGGGGCGGGGCTC ACACTAATGCTCTGACGGGGCGGGGCTCACAGTACTCCTCTGACGGGGCG GAGCTCACACTAATGCTCTGACGGGGTGGAGCTCACACTAAT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(361): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCGGGACTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTG AGCCACCGCGCCCGGCCAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02027.hp2 HG02523.hp1 HG00597.hp1 HG02027.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0275 a0001c0001t0001g0284 a0001c0001t0001g0259 a0001c0001t0001g0275 a0001c0001t0001g0284	3	294	0.0102	368	c.550 others(385): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149809293	G G	GATAGATA others(361): Show GATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAG ATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGATAGA TAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGAT AGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGATA GATAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATAG ATCCATCTCTACCATAGATAGATAGATAGATAGATAGATAGATCCATCTC TACCATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT CGATCGATCCATCTCTACC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0255 a0001c0010t0001g0255	1	320	0.0031	368	c.79- others(385): Show c.79-11106_79-11105insCCATCTCTACCATAGATAGATAGATAGA TAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATAGAT AGATAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATA GATAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATAG ATCCATCTCTACCATAGATAGATAGATAGATAGATAGATCCATCTCTACC ATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGA TAGATAGATAGATAGATAGATAGATAGATAGATAGATCGATCGATCCATC TCTACCATAGATAGATAGATAGATAGATAGATAGATAGAT	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRDM16_chr1_3064203_3443621	3215369	G G	GTCCAGGA others(361): Show GTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCA AGGCCTACTGGGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCC CGGGGACAGGCAAGGCCTACTGGGGTCCAGGAGAACAGGGCCTCCAGGAG GGTCATGGGTCCCGGGGACAGGCAAGGCCCACGGGGTCCAGGAGAACAGG GCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGATCC AGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCTGGGGACAGGCAAGGC CCACGGGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGG ACAGGCAAGGCCCACAGGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0072 a0001c0001t0023g0072	1	210	0.0048	368	c.388 others(387): Show c.388-28662_388-28661insCTGGGGTCCAGGAGAACAGGGCCTCC AGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCTACTGGGGTCCAGGAG AACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACG GGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGG CAAGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTC CTGGGGACAGGCAAGGCCCACGGGGTCCAGGAGAACAGGGCCTCCAGGAG GGTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGG GCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCTA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133879	C C	CCCTCTCT others(361): Show CCCTCTCTCTCTTCCTCCCTCTCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCT CCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCCTCCTCCTCTCTCCACCTCCCCTCTCTCTCTCCTCCCTCTC CACCTCTCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCTCACCTCCCTCTCTCTCTCCCTCTCCTCTCTCCACCTCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	227	0.0044	368	c.24 others(379): Show c.2447_*2448insCCTCTCTCTCTTCCTCCCTCTCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCCTCCTCCTCTCTCCACCTCCCCTCTC TCTCTCCTCCCTCTCCACCTCTCCCTCTCTCTCCCTCCCTCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCTCACCTCCCTCTCTCTCTCCCTCTCC TCTCTCCACCTCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2167		chr19	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(361): Show CTCACCCCCTCCCTCATCCTTCACCCCCCTCCCCTCATCCTCACTCCTCT CTCATCACCCCTCCTCCATCCTTCACCCCCCCCATCGTCACCCCCCTCCC TCATCCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTC CCCCATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTC TATCCTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCC CTCATCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCC CTCCCTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCT TCACCCCCTCCCTCATCCT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	386	0.0026	368	c.-58 others(383): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGTGAAGGATGGGGGA GGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGA TGGGGGAGGGGGTGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTG AGGAGGAGGGGGCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGT GAGGATGAGGGTGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAG GATGAGGGAGGGGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGGT GACGATGGGGGGGGTGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAG GATGAGGGGAGGGGGGTGAAGGATGAGGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787267	A A	ACCCCCTC others(361): Show ACCCCCTCCCTCATCCTTCAACCCCTCCCTCATCCTCACTCCTCTCCTCA TCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCATCC TCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCCAT CCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCCTCCTCTATCC TCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCAT CCTCACCCCTGTCTCCTCCTCACCCCCCCCCCCCATCCTTCACCCCCTCC CTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCAC CCCCTCCCTCATCCTTCAC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	386	0.0026	368	c.-58 others(383): Show c.-58+265_-58+266insGTGAAGGATGAGGGAGGGGGTGAAGGATGG GGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGA AGGATGGGGGGGGGGGGTGAGGAGGAGACAGGGGTGAGGATGAGGGAGGG GAGTGAGGAGGAGGGGGCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAG GGGGGTGAGGATGAGGGTGAGGACGAGGAGGGGTGAAGGATGGGGGAGGG GGTGAGGATGAGGGAGGGGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAG GGGGTGACGATGGGGGGGTGAAGGATGGAGGAGGGGTGATGAGGAGAGGA GTGAGGATGAGGGAGGGGTTGAAGGATGAGGGAGGGGG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
RASA3_chr13_113972783_114137623	114044482	G G	GCACCCCC others(361): Show GCACCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCACCTCACTC GCTGAGCTCCCCCCCACGCCTCACTCGCTGAGCTCCCCCCCCCCGCCTCA CTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCC TCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCCG CCTCACTCGCTGAGCTCCCCCCCCCCGCCTCACTCGCTGAGCTCCCCCCC CCCGCCTCACTCGCTGAGCTCCCCCCCCCGCCTCACTCGCTGAGCCCCCC CGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCCCCCCGCCCCGCCTCAC TCGCTGAGCCCCCCCGCCC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	67	0.0149	368	c.278 others(385): Show c.278-3389_278-3388insGGGCGGGGGGGCTCAGCGAGTGAGGCGG GGCGGGGGGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTC AGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGGGGGGGAG CTCAGCGAGTGAGGCGGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGGGGG GAGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCG GGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGG GGGGGGGAGCTCAGCGAGTGAGGCGTGGGGGGGAGCTCAGCGAGTGAGGT GGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(361): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCC CGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC GCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCG GGAGGGAGGCGCGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03195.hp1 HG02976.hp2 HG03195.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0008 a0004c0012t0008	a0004c0012t0008g0137 a0004c0012t0008g0138 a0004c0012t0008g0137 a0004c0012t0008g0138	2	204	0.0098	368	c.880 others(385): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTGAC CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(361): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCC CGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC GCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCG GGAGGGAGGCGCGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0149 a0001c0002t0002g0149	1	204	0.0049	368	c.880 others(385): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(361): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCC GCACAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG GAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0003 a0002c0027t0003	a0002c0027t0003g0086 a0002c0027t0003g0086	1	204	0.0049	368	c.880 others(385): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGTGCGGGGGCTGA CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(361): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCC GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG GAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02132.hp1 HG02155.hp2 others(6): Show HG00280.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG03491.hp1 HG04228.hp2 NA19007.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0022 a0002c0006 a0009c0017	a0001c0001t0003 a0001c0001t0030 a0001c0002t0006 others(5): Show a0001c0001t0003 a0001c0001t0030 a0001c0002t0006 a0001c0004t0025 a0001c0007t0003 a0001c0022t0008 a0002c0006t0003 a0009c0017t0003	a0001c0001t0003g0100 a0001c0001t0030g0143 a0001c0002t0006g0145 others(6): Show a0001c0001t0003g0100 a0001c0001t0030g0143 a0001c0002t0006g0145 a0001c0004t0025g0080 a0001c0007t0003g0099 a0001c0022t0008g0082 a0002c0006t0003g0089 a0002c0006t0003g0090 a0009c0017t0003g0101	9	204	0.0441	368	c.880 others(385): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTGA CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(361): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCC GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG GAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01169.hp1 HG01175.hp1 others(22): Show HG00639.hp1 HG01169.hp1 HG01175.hp1 HG01255.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp2 HG02027.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02257.hp2 HG02293.hp2 HG02486.hp1 HG02818.hp1 HG02896.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG04199.hp1 HG04228.hp1 NA18939.hp2 NA19085.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0023 a0001c0024	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0033 a0001c0005t0009 a0001c0023t0002 a0001c0024t0002	a0001c0001t0001g0033 a0001c0002t0002g0152 a0001c0002t0002g0158 others(22): Show a0001c0001t0001g0033 a0001c0002t0002g0152 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0161 a0001c0002t0002g0165 a0001c0002t0002g0169 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0183 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0190 a0001c0002t0002g0192 a0001c0002t0005g0116 a0001c0002t0033g0186 a0001c0005t0009g0200 a0001c0005t0009g0201 a0001c0005t0009g0202 a0001c0005t0009g0204 a0001c0023t0002g0175 a0001c0024t0002g0182	25	204	0.1226	368	c.880 others(385): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(361): Show AATATATATATTTAAATATATATATTTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATAAATATATATTTAAATATATATATTTAAATA TATATTATATATTTAAAGATATATATTAAATTATATATATTAAAATATGT ATATTAATATATATTTAAATTATATAATTTAAATATACATATTTAAAAAT ATATATATTTTTATATATATATTTTTAATATATATATTTTTAAATATATA TATATATTTATATATATATTTTTATATATATATATTTATATATATATTTT TAAATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03486.hp1 HG03098.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0053 a0001c0002t0007g0053	2	408	0.0049	368	c.182 others(385): Show c.182-2703_182-2702insTATATATATTTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATAAATATATATTTAAATATATATATT TAAATATATATTATATATTTAAAGATATATATTAAATTATATATATTAAA ATATGTATATTAATATATATTTAAATTATATAATTTAAATATACATATTT AAAAATATATATATTTTTATATATATATTTTTAATATATATATTTTTAAA TATATATATATATTTATATATATATTTTTATATATATATATTTATATATA TATTTTTAAATATATATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATT others(361): Show AATATATTTAAATATATATATCTTTAAATATGTATATTTAAATTATATAA TTTAAATATATATTAATATACATATTTTAATATATATAATTTAATATTTA TAATATATATATAATTTAATATATATAATTTAATATTTAAAGATATATAT TAAATTATATAATTAAAATATGTATATTAATATATATTTAAATTATATAA TTTAAATATACATATTTAAAGATATATATATTTAAATATATATATTTTTA ATATATATATTTAAATATATATATTTTTAATATATATATTTTTAAATATA TATATATTTATATATATATTTTTATATATATATATTTATATATATATTTT TAAATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	408	0.0025	368	c.182 others(385): Show c.182-2712_182-2711insTTAAATATATATATCTTTAAATATGTAT ATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATATAT ATAATTTAATATTTATAATATATATATAATTTAATATATATAATTTAATA TTTAAAGATATATATTAAATTATATAATTAAAATATGTATATTAATATAT ATTTAAATTATATAATTTAAATATACATATTTAAAGATATATATATTTAA ATATATATATTTTTAATATATATATTTAAATATATATATTTTTAATATAT ATATTTTTAAATATATATATATTTATATATATATTTTTATATATATATAT TTATATATATATTTTTAAATATATATATATATTTATATAT	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF17_chr13_24759169_24884921	24881896	C C	CTATATAG others(361): Show CTATATAGATATATAATCTATATAGATATATAATCTATATAGATATATAG ATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACAT CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	426	0.0024	368	c.21 others(379): Show c.2170_*2171insTATATAGATATATAATCTATATAGATATATAATC TATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA GATATATAGATACATCTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1976		chr13	TogoVar
RPTOR_chr17_80539838_80971368	80963426	C C	CTGCGGCC others(361): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0070 a0001c0070	a0001c0070t0020 a0001c0070t0020	a0001c0070t0020g0003 a0001c0070t0020g0003	1	196	0.0051	368	c.393 others(385): Show c.3939+391_3939+392insGTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCT GCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963449	C C	CTGCGGCC others(361): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0103 a0001c0009t0012g0103	1	196	0.0051	368	c.393 others(385): Show c.3939+437_3939+438insCTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963587	G G	GTGCGGCC others(361): Show GTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG TGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0004 a0001c0036t0004	a0001c0036t0004g0167 a0001c0036t0004g0168 a0001c0036t0004g0167 a0001c0036t0004g0168	2	196	0.0102	368	c.393 others(385): Show c.3939+575_3939+576insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGG CCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963633	C C	CTGCGGCC others(361): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0006 a0001c0072t0006	a0001c0072t0006g0108 a0001c0072t0006g0108	1	196	0.0051	368	c.393 others(385): Show c.3939+580_3939+581insGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACC CCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGT CCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCC TGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTG CGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGC CCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTC ACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963633	C C	CTGCGGCC others(361): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp1 HG02922.hp1 others(1): Show HG02280.hp2 HG02886.hp1 HG02922.hp1 HG03041.hp1	a0001 a0001	a0001c0007 a0001c0009 a0001c0066 a0001c0007 a0001c0009 a0001c0066	a0001c0007t0030 a0001c0007t0090 a0001c0009t0006 others(1): Show a0001c0007t0030 a0001c0007t0090 a0001c0009t0006 a0001c0066t0058	a0001c0007t0030g0020 a0001c0007t0090g0025 a0001c0009t0006g0142 others(1): Show a0001c0007t0030g0020 a0001c0007t0090g0025 a0001c0009t0006g0142 a0001c0066t0058g0126	4	196	0.0204	368	c.393 others(385): Show c.3939+580_3939+581insGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACC CCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGT CCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCC TGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTG CGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGC CCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTC ACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963679	G G	GTGCGGCC others(361): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG TGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0182 a0001c0003t0001g0182	1	196	0.0051	368	c.394 others(385): Show c.3940-515_3940-514insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCT GCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963702	G G	GTGCGGCC others(361): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG TGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0013 a0001c0013t0013	a0001c0013t0013g0062 a0001c0013t0013g0062	1	196	0.0051	368	c.394 others(385): Show c.3940-538_3940-537insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGG CCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RXRA_chr9_134321455_134445585	134444377	C C	CCCTCCTT others(361): Show CCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCT CCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCT CCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCTTCCCTCTCCCT CCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTT CCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTT CCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTCCCTT CCCCCTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCCCCCTCCTCCCT TCCCCCTCCCTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	232	0.0043	368	c.77 others(379): Show c.7763_*7764insCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCC TCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCT TCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCT TCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCT TCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCT TCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCC CCTCCCTCCTCCCTTCCCCCTCCCTCTTCCCTTCCCCCTCCCTCCTCCCT TCCCCCCTCCTCCCTTCCCCCTCCCTCCTTCCTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3793		chr9	TogoVar
SATL1_chrX_85087284_85248779	85088071	C C	CGTATTAA others(361): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACGTATTAATACATATATGTATAAATACATACATATTTATACATATATG TATACATACATATTTATACATATATATGTATAAATACGTACATATTTATA CATATATATGTATAAATACATACGTATTTATACATATATATGTATAAATA CGTACATATTTATACATATATATGTATAAATACGTACATATTTATACATA TATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTA CATATTTATACATATATATGTATAAATACGTACATATTTATACATATATA TGTATAAATACGTACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	232	0.0043	368	c.43 others(379): Show c.4319_*4320insATATGTACGTATTTATACATATATATGTATAAAT ATGTACGTATTTATACATATATATGTATAAATATGTACGTATTTATACAT ATATATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGT ACGTATTTATACATATATATGTATAAATATGTACGTATTTATACATATAT ATGTATAAATACGTATGTATTTATACATATATATGTATAAATATGTACGT ATTTATACATATATATGTATAAATATGTATGTATACATATATGTATAAAT ATGTATGTATTTATACATATATGTATTAATACGTATTTATACATATATGT ATTAATACGTATTTATACATATATGTATTAATAC	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4212		chrX	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(361): Show GGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAG GGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGG GGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGAG TGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTG AGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAG GGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0281 a0005c0016t0001g0281	1	290	0.0035	368	c.464 others(381): Show c.464+91_464+92insTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTT GGGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGG GGTTGAGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGG TTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTT GGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(361): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG02572.hp1 others(5): Show HG01243.hp1 HG02486.hp1 HG02572.hp1 HG03139.hp2 HG03195.hp1 HG04115.hp1 NA18943.hp1 NA18995.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0002c0002t0001 a0004c0006t0003	a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0006g0036 others(5): Show a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0006g0036 a0001c0001t0010g0135 a0002c0002t0001g0118 a0002c0002t0001g0119 a0004c0006t0003g0026 a0004c0006t0003g0027	8	370	0.0216	368	c.-30 others(387): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTC CCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SIGIRR_chr11_400716_419999	410987	A A	AGGGGGGT others(361): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGGT GCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTCT GACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGA TACAGTCGGTGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGT GGGGGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGG GGTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGTGCTCAGC TCTGACCATGTCTGGATGCAGTCGGGGGGGGTGCCCAGCTCTGACCATGT CTCAATGCAGTCGGGGGGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02486.hp2 HG02027.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0186 a0001c0001t0001g0153 a0001c0001t0001g0186	2	242	0.0083	368	c.-15 others(385): Show c.-153-961_-153-960insCCCCCCCGACTGCATTGAGACATGGTCA GAGCTGGGCACCCCCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCAC CCCTCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCGA CTGTATCCAGACATGGTCAGAGCTGGGCACCACCCCCCCCCACCGACTGT ATCCAGACATGGTCAGAGCTGGGCACCCCCCACCGACTGTATCCAGACAT GGTCAGAGCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGG CACCCCCCGCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTC CCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	410987	A A	AGGGGGGT others(361): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGGT GCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTCT GACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGA TACAGTCGGTGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGT GGGGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGG GTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGTGCTCAGCT CTGACCATGTCTGGATGCAGTCGGGGGGGGTGCCCAGCTCTGACCATGTC TCAATGCAGTCGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19005.hp2 NA19067.hp2 NA18966.hp2 NA19005.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0099 a0001c0001t0001g0164 a0001c0001t0001g0054 a0001c0001t0001g0099 a0001c0001t0001g0164	3	242	0.0124	368	c.-15 others(385): Show c.-153-961_-153-960insCCCCCCCCGACTGCATTGAGACATGGTC AGAGCTGGGCACCCCCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCA CCCCTCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCG ACTGTATCCAGACATGGTCAGAGCTGGGCACCACCCCCCCCACCGACTGT ATCCAGACATGGTCAGAGCTGGGCACCCCCCACCGACTGTATCCAGACAT GGTCAGAGCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGG CACCCCCCGCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTC CCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411029	A A	AGGGGGGT others(361): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGC CCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCA TGTCTGGATACAGTCGGTGGGGGGTGCCCAGCTCTGACCATGTCTGGATA CAGTCGGTGGGGGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGT CGGGGAGGGGTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGG TGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGTGCCCAGCTCT GACCATGTCTCAATGCAGTCGGGGGGGGGGGGTGCCCAGCTCTGACCATG TCTGAATGCAGTCGGGGAG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	242	0.0041	368	c.-15 others(387): Show c.-153-1003_-153-1002insCTCCCCGACTGCATTCAGACATGGTC AGAGCTGGGCACCCCCCCCCCCCGACTGCATTGAGACATGGTCAGAGCTG GGCACCCCCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCTCC CCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCGACTGTAT CCAGACATGGTCAGAGCTGGGCACCACCCCCCCCCACCGACTGTATCCAG ACATGGTCAGAGCTGGGCACCCCCCACCGACTGTATCCAGACATGGTCAG AGCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCC CCGCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SKI_chr1_2223319_2315213	2281734	C C	CGAGAAGA others(361): Show CGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAA GACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC GGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCG GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGA GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG CCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT CTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0098 a0001c0001t0007g0098	1	330	0.0030	368	c.970 others(387): Show c.970-21230_970-21229insCGGCGGCGATCTTCAGAGAGAGAGAT GCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAG AAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAG GCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGG CGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGAT CTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA GAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGT GGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281859	C C	CGCCCGAG others(361): Show CGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGA GAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACA GGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAA GACACGTGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCC GAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGA CAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGG TGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGA GATCTTCATAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0186 a0002c0004t0002g0186	1	330	0.0030	368	c.970 others(387): Show c.970-21111_970-21110insGGACAGGCGGCGGCGGAGATCTTCAG AGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG ACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA GATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGCGGCGGAGATCTTC AGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGA GGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCC CGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAG ACAGGCGGTGGCGGAGATCTTCATAGAGAGAGATGCCCGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281906	C C	CGAGAAGA others(361): Show CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAA GACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGC GGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCG GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGA GAGGATGCCCGAGAGGACAGGCAGTGGTGGAGATCTTCAGAGAGAGGACG CCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT CTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	330	0.0030	368	c.970 others(387): Show c.970-21068_970-21067insAGACAGGCGGTGGCGGAGATCTTCAG AGAGAGAGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAG GAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCC GAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGA CAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGG CGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCAGTGGTGGA GATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTC ATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282247	C C	CGCCTGAG others(361): Show CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGA GAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACA GGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTG GTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGA TCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGA CAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0085 a0001c0001t0010g0085	1	330	0.0030	368	c.970 others(387): Show c.970-20728_970-20727insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGACGCCTGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG AGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAT GCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAG AAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAG AGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282294	T T	TGAGAAGA others(361): Show TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAG ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG GCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGG AGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTT CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGG CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	330	0.0030	368	c.970 others(387): Show c.970-20642_970-20641insTGAGAAGACAGGCGGCGGCGGCGATC TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAG AGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGAC GCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGA TCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAG AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCC GAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(361): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCG GGAGGGGGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGG GGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGG AGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGG GGGGAGGGAGGGGAAGGAGGCGGGGGGGCGGGAGGGGGAGGACGCGGGGG GGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG02976.hp2 others(4): Show HG02451.hp1 HG02615.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp2 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 others(3): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016	a0001c0001t0005g0119 a0001c0001t0008g0194 a0001c0001t0009g0030 others(4): Show a0001c0001t0005g0119 a0001c0001t0008g0194 a0001c0001t0009g0030 a0001c0001t0010g0061 a0001c0001t0015g0051 a0001c0001t0015g0145 a0001c0001t0016g0198	7	222	0.0315	368	c.914 others(387): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCCC CCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCGCCCCCCCGCCTCCCCCCT CCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCCCGCCT CCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCC CCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGC CTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTC CCCCCTGCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(361): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGGCGGCAGGGGGAGGAGG CGGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGG AGGCGGGAGTGGGAGGAGGCGTGGGGGCGGGAGGGGGAGGAGGCGGGGAG GCGGGAGGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGGGGC GGGAGGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGG AGGGGGCGGGAGGGGGAGGAGGCGGGGGGCGGGGGGGCGGGAGGGGAAGG AGGCGGGGGGGCGGGGGGGGCGGGGGGGCGGGAGGGGGAGGACGCGGGGG GGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0217 a0001c0001t0016g0217	1	222	0.0045	368	c.914 others(387): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCGCCCCCCCCGCCCCCCCGCCTCCTTCCC CTCCCGCCCCCCCGCCCCCCGCCTCCTCCCCCTCCCGCCCCCTCCCGCCC CCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCCTCCCGCCCCCC CGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCCTCCCGCCTCCCCG CCTCCTCCCCCTCCCGCCCCCACGCCTCCTCCCACTCCCGCCTCCCCGCC TCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTC CCCCTGCCGCCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC25A21_chr14_36672921_37177606	36789846	A A	ATTTAATA others(361): Show ATTTAATATTATATATATTTATATATATATTTATATATATTTATATATTT ATATATATTTATATATATATTTATATATATTTATATATTTATATATATTT ATATATAATATATTTTTATTATATATATATTTATATATATATAATATAAT ATATATATTATATATATAATATATATAAATATATTATATATATTATATAT ATAATATATTTATATATATTTATATATTATATATATAATATATTTATATA TATATATATTATATATATAATATATTTATATATATTTATATATTTATATA TAATATATTTTTATATATTTTTATATAAATTTATATATATATTTTATATA TATTTATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0074 a0001c0001t0017g0074	1	164	0.0061	368	c.203 others(387): Show c.203+24071_203+24072insATATATTTATATATAAATATATATAA AATATATATATAAATTTATATAAAAATATATAAAAATATATTATATATAA ATATATAAATATATATAAATATATTATATATATAATATATATATATATAA ATATATTATATATATAATATATAAATATATATAAATATATTATATATATA ATATATATAATATATTTATATATATTATATATATAATATATATATTATAT TATATATATATAAATATATATATAATAAAAATATATTATATATAAATATA TATAAATATATAAATATATATAAATATATATATAAATATATATAAATATA TAAATATATATAAATATATATATAAATATATATAATATTAAA	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC35F1_chr6_117902264_118322671	117923680	T T	TATGTACA others(361): Show TATGTACATATGTACATATGTACATATGCATATATGTACATATGTACATA TGTACATATGTACATATGCATATATGTACATATGTACATATGTACATATG TACATATGCATATATGTACATATGTACATATGTACATATGTATATATGCA TATATGTACATATGTACATATGTATATATACGTATATGTACATACGTACA TATATACATATGTATATATACGTATATGTACATATGTACATATATACATA TGTATATATACGTATATGTACATATGTACATATATACATATACATATGTA CATATACACATATACATATGTACATATGTACATATACATATGTATATATA CATATATGTACATATATAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0114 a0002c0002t0005g0114	1	182	0.0055	368	c.173 others(387): Show c.173+15783_173+15784insGTACATATGTACATATGTACATATGC ATATATGTACATATGTACATATGTACATATGTACATATGCATATATGTAC ATATGTACATATGTACATATGTACATATGCATATATGTACATATGTACAT ATGTACATATGTATATATGCATATATGTACATATGTACATATGTATATAT ACGTATATGTACATACGTACATATATACATATGTATATATACGTATATGT ACATATGTACATATATACATATGTATATATACGTATATGTACATATGTAC ATATATACATATACATATGTACATATACACATATACATATGTACATATGT ACATATACATATGTATATATACATATATGTACATATATACAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC9A3_chr5_465456_529449	507665	T T	TCCCCACA others(361): Show TCCCCACAGACGCCCGAATCCTCACCCTGCAGACGCCCGAATCCCCACCC CGCAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCTCCACCCCACA GACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCGCAGACG CCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCG AATCCCCACCCCGCAGACGCCCGAATCCTCACCCCGCAGACGCCCGAATC CCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCA CCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCC GCAGACGCCCGAATCCCCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp1 NA18522.hp2 HG02965.hp2 HG03195.hp1 NA18522.hp2	a0003 a0003	a0003c0014 a0003c0032 a0003c0014 a0003c0032	a0003c0014t0001 a0003c0032t0007 a0003c0014t0001 a0003c0032t0007	a0003c0014t0001g0160 a0003c0014t0001g0162 a0003c0032t0007g0161 a0003c0014t0001g0160 a0003c0014t0001g0162 a0003c0032t0007g0161	3	218	0.0138	368	c.212 others(387): Show c.212-15595_212-15594insTGGGGATTCGGGCGTCTGCGGGGTGG GGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGAT TCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGG GCGTCTGCGGGGTGAGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGT CTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGC GGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGG TGGAGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGCGGGGTGGG GATTCGGGCGTCTGCAGGGTGAGGATTCGGGCGTCTGTGGGG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507670	A A	ACAGACGC others(361): Show ACAGACGCCCGAATCCTCACCCTGCAGACGCCCGAATCCCCACCCCGCAG ACGCCCGAATCCCCACCCCACAGACGCCCGAATCTCCACCCCACAGACGC CCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCGCAGACGCCCGA ATCCTCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCC TCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCAC CCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCG CAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGA CGCCCGAATCCCCACCCCG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG04115.hp2 HG01517.hp2 HG04115.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0009 a0001c0009t0009 a0001c0003t0009 a0001c0009t0009	a0001c0003t0009g0007 a0001c0009t0009g0090 a0001c0003t0009g0007 a0001c0009t0009g0090	2	218	0.0092	368	c.212 others(387): Show c.212-15600_212-15599insCGGGGTGGGGATTCGGGCGTCTGCGG GGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTG GGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGA TTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGAGGATTCG GGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGAGGATTCGGGCG TCTGCGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTG TGGGGTGGAGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGCGGG GTGGGGATTCGGGCGTCTGCAGGGTGAGGATTCGGGCGTCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATTATA others(361): Show ATATTATATTTTATATTATAATATATAATATACATTATATTTTATGATAT ATAATATACATTATATTTTATGATATATAATATACATTATATTTTATGAT ATATAATATACATTATATTTTATGATATATAATATACATTATATTTTATG ATATATAATATACATTATATTTTATGATATATAATATACATTATATTTTA TGATATATAATATACATTATATTTTATGATATATAATATATATTATATTT TATGATATATAATATATATTATATTTTATGATATATAATATATATTATAT TTTATGATATATAATATATATTATATTTTATGATATATAATATATATTAT ATTTTATGATATATATTAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	340	0.0029	368	c.17 others(387): Show c.174+9791_*174+9792insATAATATATATCATAAAATATAATAT ATATTATATATCATAAAATATAATATATATTATATATCATAAAATATAAT ATATATTATATATCATAAAATATAATATATATTATATATCATAAAATATA ATATATATTATATATCATAAAATATAATGTATATTATATATCATAAAATA TAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAA TATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAA AATATAATGTATATTATATATCATAAAATATAATGTATATTATATATCAT AAAATATAATGTATATTATATATTATAATATAAAATATAATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNTG2_chr2_945849_1372613	1221592	C C	CTCTGCCT others(361): Show CTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCT CTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCT GCCTCTGCCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTCTGTCT CTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCTCT CTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCC CTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGT CTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCC CTTTCAGTCTCTGGTTTTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0008 a0008	a0008c0031 a0008c0031	a0008c0031t0001 a0008c0031t0001	a0008c0031t0001g0110 a0008c0031t0001g0110	1	190	0.0053	368	c.719 others(387): Show c.719+12362_719+12363insTCTGCCTCTGTCTCTGCCTCTCTGTG TCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTT TGTCTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTGCCTC TGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGCC TCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTC TCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTC TCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCC CCTCCCTCTGTCTCTCTCTGTCCCTTTCAGTCTCTGGTTTTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATAATGA others(361): Show CATAATGATATATAATATATATCATTATATAACATAATGATATATAATAT ATATCATTATATAACATAATGATATATAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0031 a0001c0006t0031	a0001c0006t0031g0224 a0001c0006t0031g0224	1	356	0.0028	368	c.-11 others(389): Show c.-112+29099_-112+29100insTAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATAATGATATATAATATATAT CATTATATAACATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(361): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGG AGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAG GGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGG GGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19065.hp1 NA18962.hp2 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0236 a0002c0002t0001g0240 a0002c0002t0001g0236 a0002c0002t0001g0240	2	260	0.0077	368	c.138 others(387): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCC TCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(361): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGG AGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGGAGGGGGA GGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGG GGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0179 a0002c0002t0001g0179	1	260	0.0039	368	c.138 others(387): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCT CCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCC CCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
TAF4_chr20_61969798_62070881	62057603	C C	CCAGCAAG others(361): Show CCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAG ACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGAC ACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTC AGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGAC AATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACA GGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCA AGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATG GGGCTCGGGGGGCCAACCT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0280 a0001c0002t0001g0280	1	314	0.0032	368	c.136 others(387): Show c.1360+6847_1360+6848insAGGTTGGCCCCCCGAGCCCCATTGTC TGTGGCCTGGTGTGTAGGCCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAG GTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCC GTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTG GCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTG GCCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTC CTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGAGCCCCATTGTCTGTGGC CTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	62058768	C C	CGGGGGGC others(361): Show CGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACA CACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCA GGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGG GGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACC AGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAA GGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGG CCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGG CCACAGACAATGGGGCTCG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19084.hp1 NA18941.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0266 a0001c0002t0001g0267	2	314	0.0064	368	c.136 others(387): Show c.1360+5682_1360+5683insCGAGCCCCATTGTCTGTGGCCTGGTG TGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCG AGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGA GGTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGT AGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCGAGCC CCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTC TTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGGC CTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TCF12_chr15_56913644_57294853	57075835	T T	TTTTCTTT others(361): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	330	0.0030	368	c.222 others(387): Show c.222+12040_222+12041insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar

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