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
PLCL1_chr2_197799593_198154863	197922930	G G	GGGGCAGC others(169): Show GGGGCAGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC CGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCTAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCTGGGCAGAGG GCTGACCCCCCACCTCCCTCCCGGACA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0008 a0001c0003t0002g0008	1	204	0.0049	176	c.240 others(197): Show c.240+117595_240+117596insAGCTGGCCGGGCGGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACCGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCTAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACG GGGCGGCTGGCTGGGCAGAGGGCTGACCCCCCACCTCCCTCCCGGACAGG GC	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCL1_chr2_197799593_198154863	197922930	G G	GGGGCGGC others(169): Show GGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACC GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGG CTGACCCCCCCACCTCCCTCCCGGACA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02074.hp1 HG02165.hp1 others(1): Show HG00558.hp1 HG02074.hp1 HG02165.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0041 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0041 a0001c0001t0042	a0001c0001t0004g0158 a0001c0001t0007g0159 a0001c0001t0041g0157 others(1): Show a0001c0001t0004g0158 a0001c0001t0007g0159 a0001c0001t0041g0157 a0001c0001t0042g0154	4	204	0.0196	176	c.240 others(197): Show c.240+117603_240+117604insAGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACCGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCGGGCAGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CC	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCL1_chr2_197799593_198154863	197922930	G G	GGGGCGGC others(169): Show GGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACC GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGG CTGACCCCCCCACCTCCCTCCCGGACA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02148.hp1 HG01258.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0161 a0001c0001t0007g0162 a0001c0001t0004g0161 a0001c0001t0007g0162	2	204	0.0098	176	c.240 others(197): Show c.240+117606_240+117607insTGGGGGGCTGACCCCCCCACCTCC CTCCCGGACCGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGCAGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG GG	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCL1_chr2_197799593_198154863	197922979	C C	CGGGCGGC others(169): Show CGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCAGCTGGCTGGGCAGAGG GCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0052 a0001c0011t0052	a0001c0011t0052g0052 a0001c0011t0052g0052	1	204	0.0049	176	c.240 others(197): Show c.240+117722_240+117723insAGCTGGCTGGGCAGAGGGCTGACC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGG GC	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCL1_chr2_197799593_198154863	197922979	C C	CGGGCGGC others(169): Show CGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCAGAGG GCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00609.hp1 others(50): Show HG00323.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG01081.hp2 HG01106.hp1 HG01168.hp1 HG01192.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp1 HG01943.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02698.hp2 HG02738.hp1 HG02922.hp2 HG03491.hp2 HG03710.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18956.hp2 NA18962.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18981.hp2 NA18990.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19056.hp1 NA19062.hp1 NA19066.hp1 NA19077.hp2 NA19079.hp2 NA19084.hp1 NA19089.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 others(16): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0053	a0001c0001t0004g0155 a0001c0001t0004g0170 a0001c0001t0004g0175 others(50): Show a0001c0001t0004g0155 a0001c0001t0004g0170 a0001c0001t0004g0175 a0001c0001t0004g0182 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0007g0152 a0001c0001t0007g0174 a0001c0001t0007g0178 a0001c0001t0007g0180 a0001c0001t0007g0185 a0001c0001t0007g0187 a0001c0001t0007g0199 a0001c0001t0012g0156 a0001c0001t0012g0168 a0001c0001t0012g0181 a0001c0001t0012g0189 a0001c0001t0014g0151 a0001c0001t0014g0160 a0001c0001t0014g0166 a0001c0001t0014g0202 a0001c0001t0015g0171 a0001c0001t0015g0172 a0001c0001t0015g0183 a0001c0001t0015g0192 a0001c0001t0017g0164 a0001c0001t0017g0169 a0001c0001t0017g0179 a0001c0001t0018g0153 a0001c0001t0018g0167 a0001c0001t0018g0184 a0001c0001t0021g0173 a0001c0001t0021g0186 a0001c0001t0022g0163 a0001c0001t0022g0176 a0001c0001t0023g0145 a0001c0001t0023g0165 a0001c0001t0024g0193 a0001c0001t0024g0203 a0001c0001t0034g0147 a0001c0001t0035g0146 a0001c0001t0036g0177 a0001c0001t0037g0148 a0001c0001t0038g0149 a0001c0001t0039g0150 a0001c0001t0040g0194 a0001c0001t0053g0001	53	204	0.2598	176	c.240 others(197): Show c.240+117734_240+117735insAGAGGGCTGACCCCCCCACCTCCC TCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGG GC	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCL1_chr2_197799593_198154863	197922979	C C	CGGGCGGC others(169): Show CGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCTGGGCAGAGG GCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02280.hp2 others(2): Show HG02109.hp1 HG02258.hp2 HG02280.hp2 HG03225.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010	a0001c0001t0005 a0001c0003t0028 a0001c0006t0016 others(1): Show a0001c0001t0005 a0001c0003t0028 a0001c0006t0016 a0001c0010t0029	a0001c0001t0005g0143 a0001c0003t0028g0142 a0001c0006t0016g0141 others(2): Show a0001c0001t0005g0143 a0001c0003t0028g0142 a0001c0006t0016g0141 a0001c0006t0016g0144 a0001c0010t0029g0140	5	204	0.0245	176	c.240 others(197): Show c.240+117729_240+117730insTGGGCAGAGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GC	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCL1_chr2_197799593_198154863	197922979	C C	CGGGCGGC others(169): Show CGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCTAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCTGGGCAGAGG GCTGACCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCACCTCCCTCCCGGACG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0009 a0001c0003t0026g0009	1	204	0.0049	176	c.240 others(197): Show c.240+117675_240+117676insTAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCAGACGGGGCGGCTGGCTGGGCAGAGGGCTGACCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CC	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLPP2_chr19_276043_296403	278904	C C	CAAAAAAT others(169): Show CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	354	0.0028	176	c.24 others(187): Show c.2483_*2484insTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		2138		chr19	TogoVar
PLPPR1_chr9_101023727_101330135	101078184	A A	AGGGGGAG others(169): Show AGGGGGAGGGGGAGGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGGA GGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGGAGGGGGGAGGGGAA GGGGGAGGGGGAGGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGG GAGGGGGGAGGGGGAGGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	203	0.0049	176	c.-46 others(195): Show c.-46+49083_-46+49084insGGGGAGGGGGAGGGGGGAGGGGAAGG GGGAGGGGAAGGGGGAGGGGGAGGGGGGAGGGGAAGGGGGAGGGGAAGGG GGAGGGGGAGGGGGGAGGGGAAGGGGGAGGGGGAGGGGGGGAGGGGGGAG GGGGAGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
POFUT2_chr21_45258935_45292895	45268879	G G	GCCGGCCA others(169): Show GCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAAGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGG AGGGAGGTGGGGGGGTCAGCCCCCCGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0024 a0008c0012t0024	a0008c0012t0024g0222 a0008c0012t0024g0222	1	436	0.0023	176	c.101 others(193): Show c.1012+959_1012+960insGCGGGGGGCTGACCCCCCCACCTCCCTC CCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCTTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG	POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding	7/8			chr21	TogoVar
PPP5C_chr19_46342087_46395975	46389362	A A	AACACACA others(169): Show AACACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACAGAGTGTTGATCCCTTGCC CCCACCCGAATCCTGCCAAGTTCTCTTTCTCAAAACACACGCACACGGGC AAGAGTAAGACTCCATCTCAAACACAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0065 a0001c0002t0002g0065	1	394	0.0025	176	c.135 others(193): Show c.1356-608_1356-607insGAGTGTTGATCCCTTGCCCCCACCCGAA TCCTGCCAAGTTCTCTTTCTCAAAACACACGCACACGGGCAAGAGTAAGA CTCCATCTCAAACACACACACACACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACACACACACACA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRDM16_chr1_3064203_3443621	3181448	A A	ACACGGTC others(169): Show ACACGGTCTTACACACACAGTCTTACACACGGTCTTACACACGCAGTCTT ACGGTCTTACACACGGTCTTACACACGCAGTCTTACACACGGTCTTACAC AGTCTTACACACGCAGTCTTACACACGGCCTTACGCATGGTCTTACACAC GGTCTTACACACGCGGTCTTACACAAG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	210	0.0048	176	c.38- others(191): Show c.38-4676_38-4675insACGGTCTTACACACACAGTCTTACACACGG TCTTACACACGCAGTCTTACGGTCTTACACACGGTCTTACACACGCAGTC TTACACACGGTCTTACACAGTCTTACACACGCAGTCTTACACACGGCCTT ACGCATGGTCTTACACACGGTCTTACACACGCGGTCTTACACAAGC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAA1_chr5_40754389_40803374	40800814	A A	ATGAGGGG others(169): Show ATGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCTATCCAGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 NA18522.hp2 HG02145.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0264 a0001c0001t0001g0254 a0001c0001t0001g0264	2	402	0.0050	176	c.-26 others(187): Show c.-2626_-2625insCCTCCTGGATAGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	PRKAA1	ENSG00000132356.12	transcript	ENST00000397128.7	protein_coding		2441		chr5	TogoVar
PRKCZ_chr1_2045411_2190395	2106700	C C	CGGTGGGC others(169): Show CGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGC AGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAA CTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGG CCAGGTGACTCTTCAGCAAGCCCCTCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	286	0.0035	176	c.335 others(195): Show c.335-28544_335-28543insCACGTGTCACCAGGCCAGGTGACTCT TCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCA GGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCA CCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	162010625	T T	TATAATAT others(169): Show TATAATATATTATATATATTATATTATATATATTATATTATATTATATTA TATATATTATATATAATATTATATAATATATTATATAATATATAACATAT ATTATACAATATATTATATAATATATATTATATATAATATATTATATATT ATATAATATTAATATATATAATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18522.hp1 HG02258.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0014 a0001c0003t0001 a0001c0001t0014 a0001c0003t0001	a0001c0001t0014g0012 a0001c0003t0001g0025 a0001c0001t0014g0012 a0001c0003t0001g0025	2	32	0.0625	176	c.619 others(195): Show c.619-37209_619-37208insTATATATTATATATATTAATATTATA TAATATATAATATATTATATATAATATATATTATATAATATATTGTATAA TATATGTTATATATTATATAATATATTATATAATATTATATATAATATAT ATAATATAATATAATATAATATATATAATATAATATATATAATATATTAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRPF8_chr17_1645629_1689867	1689488	C C	CGGGGCGG others(169): Show CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCGCTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGATCCCCCCACCTCCCTCCAAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG02970.hp1 HG01243.hp1 HG02145.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0181	3	291	0.0103	176	c.-47 others(187): Show c.-4721_-4720insATCTTGGAGGGAGGTGGGGGGATCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGCGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4622		chr17	TogoVar
PRR5L_chr11_36291288_36470204	36351047	T T	TTTATATG others(169): Show TTTATATGTATTTTATATATAAATATATATTTATAAATATATGTATTTTA TATATAAATATATATTTATAAATATATGTATTTTATATATAAATATATAT TTATAAATATATGTATTTTATATATAAATATATATTTATAAATATATGTA TTTTATATATAAATATATATTTATAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp2 HG02148.hp2 others(23): Show HG01261.hp1 HG01496.hp2 HG02148.hp2 HG02257.hp1 HG02451.hp2 HG02698.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03669.hp2 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA18965.hp1 NA19000.hp2 NA19043.hp1 NA19043.hp2 NA19076.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0014 a0002c0004 a0002c0005 a0002c0015 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0019 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0013t0013 a0001c0014t0001 a0002c0004t0004 a0002c0004t0006 a0002c0005t0001 a0002c0015t0012 a0003c0008t0001	a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0081 others(23): Show a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0081 a0001c0001t0001g0245 a0001c0001t0002g0154 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0010g0193 a0001c0001t0019g0045 a0001c0002t0001g0023 a0001c0002t0001g0047 a0001c0002t0001g0184 a0001c0003t0001g0147 a0001c0003t0003g0040 a0001c0003t0003g0043 a0001c0013t0013g0057 a0001c0014t0001g0096 a0002c0004t0004g0037 a0002c0004t0004g0181 a0002c0004t0006g0058 a0002c0005t0001g0082 a0002c0005t0001g0131 a0002c0015t0012g0034 a0002c0015t0012g0035 a0003c0008t0001g0030 a0003c0008t0001g0042	26	272	0.0956	176	c.-12 others(197): Show c.-125-49949_-125-49948insTATATGTATTTTATATATAAATAT ATATTTATAAATATATGTATTTTATATATAAATATATATTTATAAATATA TGTATTTTATATATAAATATATATTTATAAATATATGTATTTTATATATA AATATATATTTATAAATATATGTATTTTATATATAAATATATATTTATAA AT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PSEN1_chr14_73131507_73228691	73189448	T T	TAAAAATA others(169): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01975.hp1 NA18747.hp2 others(6): Show HG00408.hp1 HG01975.hp1 NA18747.hp2 NA18947.hp2 NA18965.hp1 NA18974.hp2 NA18992.hp2 NA19072.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0006 a0002c0005t0006 a0001c0001t0006 a0002c0005t0006	a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0006g0275 others(6): Show a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0006g0275 a0001c0001t0006g0276 a0001c0001t0006g0281 a0001c0001t0006g0282 a0001c0001t0006g0283 a0001c0001t0006g0284 a0002c0005t0006g0274	9	378	0.0238	176	c.548 others(193): Show c.548+2554_548+2555insAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAATACAAAAAATTAGCCGGGCGT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTHLH_chr12_27953084_27977733	27961301	G G	GTATATAT others(169): Show GTATATATATATACGTATATATATATACGTATATATATACGTATATATAT ATACGTATATATATATACGTATATATATACGTATATATATATACGTATAT ATATACGTATATATATATACGTATATATATATACGTATATATATACGTAT ATATATATACGTATATATATATACGTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01884.hp1 HG00140.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0151 a0001c0001t0005g0066 a0001c0001t0002g0151 a0001c0001t0005g0066	2	456	0.0044	176	c.524 others(193): Show c.524+2046_524+2047insTACGTATATATATATACGTATATATATA TACGTATATATATACGTATATATATATACGTATATATATATACGTATATA TATACGTATATATATATACGTATATATATACGTATATATATATACGTATA TATATATACGTATATATATACGTATATATATATACGTATATATATATA	PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	5/5			chr12	TogoVar
PTPN12_chr7_77532295_77645069	77534008	A A	ACTGGCCG others(169): Show ACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCGGGATGGGGGGCTGAC CCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACG CCCCCACCTCCCTCCCGGACGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0173 a0002c0002t0001g0173	1	310	0.0032	176	c.-35 others(187): Show c.-3539_-3538insCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCG GGATGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCG GGCGGGGGGCTGACGCCCCCACCTCCCTCCCGGACGGGGCGG	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3286		chr7	TogoVar
PTPN12_chr7_77532295_77645069	77534008	A A	ACTGGCCG others(169): Show ACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCGGGATGGGGGGCTGAC CCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCTGGGGGCTGACG CCCCCACCTCCCTCCCGGACGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0108 a0003c0003t0001g0108	1	310	0.0032	176	c.-35 others(187): Show c.-3539_-3538insCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCG GGATGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCG GGCTGGGGGCTGACGCCCCCACCTCCCTCCCGGACGGGGCGG	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3286		chr7	TogoVar
PTPN12_chr7_77532295_77645069	77534008	A A	ACTGGCCG others(169): Show ACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCGGGATGGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC GCCCCCACCTCCCTCCCGACGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	310	0.0032	176	c.-35 others(187): Show c.-3539_-3538insCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCG GGATGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGCGGGGGGCTGACGCCCCCACCTCCCTCCCGACGGGGCGG	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3286		chr7	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTGA others(169): Show AGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCCCACCTCCCT CCCAGACGGGGCGGCTGGCCAGGCGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG02818.hp1 others(2): Show HG01884.hp1 HG02615.hp1 HG02818.hp1 HG02976.hp1 HG03209.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0002 a0001c0001t0021 a0006c0007t0002 a0001c0001t0002 a0001c0001t0021 a0006c0007t0002	a0001c0001t0002g0153 a0001c0001t0002g0159 a0001c0001t0002g0164 others(2): Show a0001c0001t0002g0153 a0001c0001t0002g0159 a0001c0001t0002g0164 a0001c0001t0021g0218 a0006c0007t0002g0161	5	252	0.0198	176	c.139 others(195): Show c.139-18391_139-18390insAGAGGGGCTCCTCACTTCCCAGTAGG GGTGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGG GCGGAGGGCTCATCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCAGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PWWP2B_chr10_132392200_132422859	132419475	T T	TGGGGGAG others(169): Show TGGGGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGAAGTCTGGAGGA GGGGGTCTCCTGGGGGAGGAAGTCTGGAGGAGGGGGTCTCCTGGGGGGGG GCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGG GGGGGGGCCTGGAGGAGGGGTCTCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 NA20300.hp2 HG02630.hp1 NA20300.hp2	a0003 a0005 a0003 a0005	a0003c0005 a0005c0012 a0003c0005 a0005c0012	a0003c0005t0001 a0005c0012t0001 a0003c0005t0001 a0005c0012t0001	a0003c0005t0001g0161 a0005c0012t0001g0078 a0003c0005t0001g0161 a0005c0012t0001g0078	2	374	0.0054	176	c.24 others(187): Show c.2431_*2432insGGGGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGG AGGAAGTCTGGAGGAGGGGGTCTCCTGGGGGAGGAAGTCTGGAGGAGGGG GTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGA GGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		1617		chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132419538	A A	AGGAAGTC others(169): Show AGGAAGTCTGGAGGAGGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTC TCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGA GGGGTCTCCTGGGGGAGGAAGTCTGGAGGAGGGGGTCTCCTGGGGGAGGA AGTCTGGAGGAGGGGGTCTCCTGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0167 a0003c0005t0001g0167	1	374	0.0027	176	c.24 others(187): Show c.2494_*2495insGGAAGTCTGGAGGAGGGGGTCTCCTGGGGGGGGG CCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGG GGGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGAAGTCTGGAGGAGGGGG TCTCCTGGGGGAGGAAGTCTGGAGGAGGGGGTCTCCTGGGGG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		1680		chr10	TogoVar
PXYLP1_chr3_141226825_141299924	141272528	A A	ACCACTCC others(169): Show ACCACTCCTGGGCTCTCTAGAGGGACAGAACTAATGGAATATATACATAT ATATATATTTATAAAGGGGAGTTTATTAAGTATTAACTCACACGATCACA AGGTCCCACAATAGGCTGTCGGCAGGCTGGGGAGCAAGGAAAGCCAGTCC AAGTTCCAAAACTGAGGAACTTGGATC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp2 others(50): Show HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00738.hp2 HG01192.hp2 HG01257.hp2 HG01358.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp2 HG02015.hp1 HG02027.hp1 HG02135.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03579.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18943.hp1 NA18946.hp1 NA18953.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp2 NA19060.hp2 NA19063.hp1 NA19070.hp2 NA19087.hp1 NA19091.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0016 a0003c0015 a0004c0005 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0002t0002 a0001c0003t0013 a0001c0004t0002 a0001c0016t0005 a0003c0015t0003 a0004c0005t0002 a0005c0010t0002	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0019 others(47): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0050 a0001c0001t0001g0113 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0291 a0001c0001t0001g0315 a0001c0001t0001g0358 a0001c0001t0002g0034 a0001c0001t0002g0292 a0001c0001t0002g0319 a0001c0001t0002g0357 a0001c0001t0003g0065 a0001c0001t0003g0101 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0260 a0001c0001t0003g0264 a0001c0001t0003g0314 a0001c0001t0003g0324 a0001c0001t0004g0231 a0001c0001t0005g0246 a0001c0001t0010g0313 a0001c0001t0010g0333 a0001c0002t0002g0007 a0001c0002t0002g0077 a0001c0003t0013g0268 a0001c0003t0013g0269 a0001c0004t0002g0305 a0001c0016t0005g0266 a0003c0015t0003g0267 a0004c0005t0002g0232 a0005c0010t0002g0007	53	384	0.1380	176	c.80- others(191): Show c.80-5769_80-5768insATATATATATATTTATAAAGGGGAGTTTAT TAAGTATTAACTCACACGATCACAAGGTCCCACAATAGGCTGTCGGCAGG CTGGGGAGCAAGGAAAGCCAGTCCAAGTTCCAAAACTGAGGAACTTGGAT CCCACTCCTGGGCTCTCTAGAGGGACAGAACTAATGGAATATATAC	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXYLP1_chr3_141226825_141299924	141272549	G G	GGGACAGA others(169): Show GGGACAGAACTAATGGAATATATACATATATATATATTTATAAAGGGGAG TTTATTAAGTATTAACTCACACGATCACAAGGTCCCACAATAGGCTGTCG GCAGGCTGGGGAGCAAGGAAAGCCAGTCCAAGTTCCAAAACTGAGGAACT TGGATCCCACTCCTGGGCTCTCTAGAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	384	0.0026	176	c.80- others(191): Show c.80-5769_80-5768insATATATATATATTTATAAAGGGGAGTTTAT TAAGTATTAACTCACACGATCACAAGGTCCCACAATAGGCTGTCGGCAGG CTGGGGAGCAAGGAAAGCCAGTCCAAGTTCCAAAACTGAGGAACTTGGAT CCCACTCCTGGGCTCTCTAGAAGGACAGAACTAATGGAATATATAC	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXYLP1_chr3_141226825_141299924	141272574	G G	GTATATAT others(169): Show GTATATATATATTTATAAAGGGGAGTTTATTAAGTATTAACTCACACGAT CACAAGGTCCCACAATAGGCTGTCGGCAGGCTGGGGAGCAAGGAAAGCCA GTCCAAGTTCCAAAACTGAGGAACTTGGATCCCACTCCTGGGCTCTCTAG AGGGACAGAACTAATGGAATATATACA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA19065.hp2 NA18985.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0294 a0001c0001t0003g0295 a0001c0001t0002g0294 a0001c0001t0003g0295	2	384	0.0052	176	c.80- others(191): Show c.80-5723_80-5722insCGATCACAAGGTCCCACAATAGGCTGTCGG CAGGCTGGGGAGCAAGGAAAGCCAGTCCAAGTTCCAAAACTGAGGAACTT GGATCCCACTCCTGGGCTCTCTAGAGGGACAGAACTAATGGAATATATAC ATATATATATATTTATAAAGGGGAGTTTATTAAGTATTAACTCACA	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB11FIP3_chr16_420649_528011	467524	G G	GCGTCAGG others(169): Show GCGTCAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGG AGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGC GGGGGCCTCAGGGAGGAGGTGCTGGGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0059 a0001c0012t0059	a0001c0012t0059g0107 a0001c0012t0059g0107	1	295	0.0034	176	c.809 others(193): Show c.809-3754_809-3753insGGGGGCGTCAGGGAGGAGGTGCTGGGAC GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAG GTGCGGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467568	A A	ACGTCAGG others(169): Show ACGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCA GGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGG AGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCGGGGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0037 a0005c0017t0037	a0005c0017t0037g0100 a0005c0017t0037g0100	1	295	0.0034	176	c.809 others(193): Show c.809-3688_809-3687insAGGGGCGTCAGGGAGGAGGTGCGGGGGC GTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467724	C C	CTCAGGGA others(169): Show CTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTG GGACGTCAGGGAGGAGGTGCAGGGGCG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0063 a0001c0001t0008g0063	1	295	0.0034	176	c.809 others(193): Show c.809-3556_809-3555insTGGGGCCTCAGGGAGGAGGTGCTGGGAC GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB27A_chr15_55197966_55294813	55209869	T T	TATGCGTA others(169): Show TATGCGTATATATACGGATATACACACACATATGTGTGTATATATCCGTA TATACACACACATATGTGTGTATATATCCGTATATATACACATATGTGTG TATATACGTATATACACACATATGTGTGTGTATATACGGATATACACATA TATGTGTGTATATATACGTATATACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0157 a0004c0003t0002g0157	1	320	0.0031	176	c.468 others(193): Show c.468-4165_468-4164insGTGTATATACGTATATATACACACATAT ATGTGTATATCCGTATATACACACACATATGTGTGTATATACGTATATAC ACACATATGTGTATATATACGGATATATACACACATATGTGTGTGTATAT ACGGATATATACACACATATGTGTGTGTATATCCGTATATATACGCAT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB2A_chr8_60511987_60628644	60548610	T T	TTCCCGGA others(169): Show TTCCCGGATGGGGCGGCTGGCCGAGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGAGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCAGCCGGGCAGAGGCACCCCTCACCTGCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGATCCCCCCACCTCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03139.hp2 HG01884.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0327 a0001c0001t0004g0328	2	358	0.0056	176	c.47- others(193): Show c.47-10237_47-10062dupGGATGGGGCGGCTGGCCGAGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGAGTGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCACCCCTCACCTGCCG GATGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCC	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAD17_chr5_69364818_69419801	69377594	T T	TATGCATA others(169): Show TATGCATATATATGCATATATATGTATGCATATATATATGCATATATATG TATGCATATATATATGCATATATATGTATACATATATATGCATATATATG TATACATATATATGCATATATATGTATACATATATATGCATATATATATG CATACATATATATGCATACATATATGC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19074.hp2 NA18981.hp1 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0163 a0002c0002t0001g0124 a0002c0002t0001g0163	2	359	0.0056	176	c.351 others(193): Show c.351+2895_351+2896insGCATATATATGTATGCATATATATATGC ATATATATGTATGCATATATATATGCATATATATGTATACATATATATGC ATATATATGTATACATATATATGCATATATATGTATACATATATATGCAT ATATATATGCATACATATATATGCATACATATATGCATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377594	T T	TATGCATA others(169): Show TATGCATATATATGCATATATATGTATGCATATATATGCATATATATGTA TACATATATATGCATATATATGTATGCATATATATGCATATATATGTATA CATATATATGCATATATATATGCATACATATATATGCATACATATATGCA TGCATATATATATGCATACATATATGC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0217	1	359	0.0028	176	c.351 others(193): Show c.351+2895_351+2896insGCATATATATGTATGCATATATATGCAT ATATATGTATACATATATATGCATATATATGTATGCATATATATGCATAT ATATGTATACATATATATGCATATATATATGCATACATATATATGCATAC ATATATGCATGCATATATATATGCATACATATATGCATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAI14_chr5_34651328_34837612	34665007	A A	ATATATAT others(169): Show ATATATATGTGTATATATATATGTGTATATATATATATGTGTATATATAT ATGTGTATATATATGTGTATATATATGTGTATATATATATGTGTATATAT ATATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGT ATATATATATGTGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0156 a0001c0003t0001g0156	1	254	0.0039	176	c.-49 others(193): Show c.-49+8539_-49+8540insGTGTATATATATATGTGTATATATATAT ATGTGTATATATATATGTGTATATATATGTGTATATATATGTGTATATAT ATATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGT ATATATATATGTGTATATATATATGTGTATATATATATGTGTATATAT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RBM19_chr12_113817057_113971325	113837246	T T	TACACACA others(169): Show TACACACACACACACACACACACACACACACACACACACGTGTGCTACTG CCCAGGCTTATAACCCATCCTCCTAATACACACACACACACACACACACA CACACACACACACACACACTCTCACGTGCTACTGCCCAGGCTTATAACCC ATCCTCCTAATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0354 a0001c0001t0003g0354	1	356	0.0028	176	c.278 others(195): Show c.2785+7421_2785+7422insGTGTGTGTGTGTGTGTATTAGGAGGA TGGGTTATAAGCCTGGGCAGTAGCACGTGAGAGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTATTAGGAGGATGGGTTATAAGCCTGG GCAGTAGCACACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	23/23			chr12	TogoVar
RBM19_chr12_113817057_113971325	113837246	T T	TACACACA others(169): Show TACACACACACACACACACACACACACACACACACACGTGTGCTACTGCC CAGGCTTATAACCCATCCTCCTAATACACACACACACACACACACACACA CACACACACACACACACACTCTCACGTGCTACTGCCCAGGCTTATAACCC ATCCTCCTAATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18985.hp2 HG00438.hp1 NA18985.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0322 a0001c0006t0010g0324 a0001c0006t0010g0322 a0001c0006t0010g0324	2	356	0.0056	176	c.278 others(195): Show c.2785+7421_2785+7422insGTGTGTGTGTGTGTGTATTAGGAGGA TGGGTTATAAGCCTGGGCAGTAGCACGTGAGAGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATTAGGAGGATGGGTTATAAGCCT GGGCAGTAGCACACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	23/23			chr12	TogoVar
RBM19_chr12_113817057_113971325	113837246	T T	TACACACA others(169): Show TACACACACACACACACACACACACACACACACACGTGTGCTACTGCCCA GGCTTATAACCCATCCTCCTAATACACACACACACACACACACACACACA CACACACACACACACACACACACTCTCACGTGCTACTGCCCAGGCTTATA ACCCATCCTCCTAATACACACACACAC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	356	0.0028	176	c.278 others(195): Show c.2785+7421_2785+7422insGTGTGTGTGTGTATTAGGAGGATGGG TTATAAGCCTGGGCAGTAGCACGTGAGAGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTATTAGGAGGATGGGTTATAAGC CTGGGCAGTAGCACACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	23/23			chr12	TogoVar
RBM19_chr12_113817057_113971325	113837246	T T	TACACACA others(169): Show TACACACACACACACACACACACACACACACACACGTGTGCTACTGCCCA GGCTTATAACCCATCCTCCTAATACACACACACACACACACACACACACA CACACACACACACACACTCTCACGTGCTACTGCCCAGGCTTATAACCCAT CCTCCTAATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0312 a0001c0001t0003g0312	1	356	0.0028	176	c.278 others(195): Show c.2785+7421_2785+7422insGTGTGTGTGTGTGTGTGTATTAGGAG GATGGGTTATAAGCCTGGGCAGTAGCACGTGAGAGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTATTAGGAGGATGGGTTATAAGC CTGGGCAGTAGCACACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	23/23			chr12	TogoVar
RBM5_chr3_50083919_50124021	50084928	G G	GGGCGGGG others(169): Show GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGAGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTGCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGATCCCCCCAC CTCCCTCCCAGACGGGGCGGCTGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00609.hp2 others(88): Show HG00140.hp1 HG00323.hp1 HG00609.hp2 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02074.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02818.hp2 HG02886.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03540.hp2 HG03579.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18952.hp1 NA18954.hp2 NA18960.hp1 NA18971.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19001.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19043.hp2 NA19057.hp2 NA19064.hp2 NA19066.hp1 NA19080.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0028 others(78): Show a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0150 a0001c0001t0001g0165 a0001c0001t0001g0188 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238	91	284	0.3204	176	c.-41 others(187): Show c.-4155_-4154insGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGAGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTGCCGGACGGGGTGGCTGGCCGGGCGGGG GGCTGATCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCA	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding		3990		chr3	TogoVar
RBM5_chr3_50083919_50124021	50084964	G G	GGAGCGGC others(169): Show GGAGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTGCTGGACGGGGTGGCTGGCCGGGCGGGGG GCTGATCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 NA18978.hp2 HG04115.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0072 a0001c0002t0001g0008 a0001c0001t0001g0072 a0001c0002t0001g0008	2	284	0.0070	176	c.-41 others(187): Show c.-4119_-4118insGAGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTGCTGGACGGGGTGG CTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACGGGGCGGC TGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACT	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding		3954		chr3	TogoVar
RC3H2_chr9_122839556_122910359	122867905	C C	CCCCCGCC others(169): Show CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA GCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCTCCG TCCGGGAGGGAGGTTGGGGGGTCAGCA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01256.hp2 HG01070.hp2 HG01071.hp1 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0148 a0001c0001t0003g0291 a0001c0001t0003g0292	3	320	0.0094	176	c.132 others(195): Show c.1326-2249_1326-2248insTGCTGACCCCCCAACCTCCCTCCCGG ACGGAGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGG CTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20			chr9	TogoVar
RCBTB2_chr13_48483963_48538080	48527371	T T	TATATATA others(169): Show TATATATATGATATATATATATATGATATATATATATGATATATATATGA TATATATATATATGATATATATATATATGATATATATATATGATATATAT ATGATATATATATATGATATATATATATGATATATATATATGATATATAT ATGATATATATATGATATATATATATG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02723.hp2 HG01069.hp1 HG01071.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0017 a0001c0003t0003g0018 a0001c0003t0003g0019 a0001c0003t0003g0017 a0001c0003t0003g0018 a0001c0003t0003g0019	3	320	0.0094	176	c.-21 others(195): Show c.-218-2615_-218-2614insCATATATATATATCATATATATATCA TATATATATCATATATATATATCATATATATATATCATATATATATATCA TATATATATCATATATATATATCATATATATATATATCATATATATATAT ATCATATATATATCATATATATATATCATATATATATATATCATATATAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RCOR1_chr14_102587649_102735561	102676493	A A	AGGGCGGC others(169): Show AGGGCGGCTGGCCGACCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01943.hp2 HG02300.hp1 HG01433.hp1 HG01943.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0249 a0001c0001t0004g0169 a0001c0001t0004g0183 a0001c0001t0002g0249 a0001c0001t0004g0169 a0001c0001t0004g0183	3	292	0.0103	176	c.362 others(193): Show c.362-5379_362-5378insCCCCCCCCCCGCCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676507	A A	ACCCCCCC others(169): Show ACCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCAGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCT CCCTCCCGGACAGGGCGGCTGGCCGAC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	292	0.0034	176	c.362 others(193): Show c.362-5379_362-5378insCCCCCCCCCGCCTCCCTCCCGGACGGGG CAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676507	A A	ACCCCCCC others(169): Show ACCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCT CCCTCCCGGACAGGGCGGCTGGCCGAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	292	0.0034	176	c.362 others(193): Show c.362-5379_362-5378insCCCCCCCCCGCCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676507	A A	ACCCCCCC others(169): Show ACCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCAGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACAGGGCGGCTGGCCGACC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01928.hp2 HG01943.hp1 others(5): Show HG01099.hp1 HG01928.hp2 HG01943.hp1 HG01993.hp1 HG02155.hp2 NA18971.hp1 NA18995.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0026 a0001c0001t0001 a0001c0001t0025 a0001c0001t0026	a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0077 others(5): Show a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0025g0088 a0001c0001t0026g0069	8	292	0.0274	176	c.362 others(193): Show c.362-5379_362-5378insCCCCCCCCGCCTCCCTCCCGGACGGGGC AGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676508	C C	CCCCCCCC others(169): Show CCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01243.hp1 HG02015.hp1 others(10): Show HG00673.hp1 HG01243.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02922.hp2 HG03017.hp1 HG03098.hp1 HG03209.hp2 HG03942.hp1 HG04199.hp2 NA18972.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0040	a0001c0001t0002g0192 a0001c0001t0002g0211 a0001c0001t0002g0232 others(10): Show a0001c0001t0002g0192 a0001c0001t0002g0211 a0001c0001t0002g0232 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0283 a0001c0001t0002g0288 a0001c0001t0004g0176 a0001c0001t0004g0185 a0001c0001t0014g0194 a0001c0001t0040g0213	13	292	0.0445	176	c.362 others(193): Show c.362-5379_362-5378insCCCCCCCCCCCGCCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(169): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCCT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	166	0.0060	176	c.908 others(193): Show c.908-2238_908-2237insCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCCTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar

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