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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
OR6J1_chr14_22625929_22649352	22636258	CTCTCCCT others(74): Show CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	362	0.0028	-81	c.-27 others(98): Show c.-27-1501_-27-1421delAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGA		OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1					chr14	TogoVar
OR8S1_chr12_48520632_48531570	48521322	CGGCATCA others(74): Show CGGCATCAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACGGTGGAAA GAGAGGGAGAGGGAGACCATGGAAAGAGAGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00642.hp2 others(30): Show HG00140.hp1 HG00423.hp1 HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01175.hp1 HG01256.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01978.hp2 HG02040.hp1 HG02109.hp2 HG02300.hp2 HG02698.hp1 HG02886.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03834.hp1 NA18943.hp1 NA18947.hp2 NA18953.hp2 NA18975.hp2 NA18977.hp1 NA18989.hp2 NA19077.hp2 NA19079.hp2 NA19085.hp2 NA19089.hp1 NA20300.hp1	a0005 a0006 a0005 a0006	a0005c0005 a0006c0007 a0005c0005 a0006c0007	a0005c0005t0001 a0006c0007t0001 a0005c0005t0001 a0006c0007t0001	a0005c0005t0001g0000 a0006c0007t0001g0000 a0005c0005t0001g0000 a0006c0007t0001g0000	33	444	0.0743	-81	c.-43 others(92): Show c.-4309_-4229delGGCATCAGAGGGAGACCGTGGAAAGAGAGGGAGA GGGAGACGGTGGAAAGAGAGGGAGAGGGAGACCATGGAAAGAGAGGG		OR8S1	ENSG00000284723.2	transcript	ENST00000641651.1	protein_coding				4309		chr12	TogoVar
PADI4_chr1_17303197_17369004	17351951	GTGGGAGG others(74): Show GTGGGAGGAGAGGCGGCCAGGGAGGTGATGGGAGGAGAGGCAGTCAGGGA GGTGATGGGAGGAGAGGCGGCCAGGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	372	0.0027	-81	c.115 others(100): Show c.1156-2568_1156-2488delGGCCAGGGAGGTGATGGGAGGAGAGG CAGTCAGGGAGGTGATGGGAGGAGAGGCGGCCAGGGAGGTGATGGGAGGA GAGGC		PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15				INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17351967	CCAGGGAG others(74): Show CCAGGGAGGTGATGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGAGAG GCGGCCAGGGAGGTGATGGGAGGAGAGGCAGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01167.hp2 others(7): Show HG00639.hp2 HG00642.hp2 HG01167.hp2 HG01169.hp2 HG01256.hp1 HG02083.hp1 HG02129.hp1 HG02165.hp2 HG03516.hp1 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0002c0015	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0002c0015t0001	a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0257 others(7): Show a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0257 a0001c0005t0001g0136 a0001c0005t0001g0138 a0002c0002t0001g0154 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0218 a0002c0015t0001g0307	10	372	0.0269	-81	c.115 others(100): Show c.1156-2547_1156-2467delAGAGGCAGTCAGGGAGGTGATGGGAG GAGAGGCGGCCAGGGAGGTGATGGGAGGAGAGGCAGTCAGGGAGGTGATG GGAGG		PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15				INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX5_chr9_36828269_37039268	36852761	TCATAGTC others(74): Show TCATAGTCACAGATGATCAGGCCTGGGATGAACTTTAGAGATACGTTCCC TCAACCTTTCCATCCCCAGGGTCTTCTAGCCA	T T	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0009 a0001c0001t0046g0009	1	274	0.0037	-81	c.101 others(100): Show c.1013-5913_1013-5833delTGGCTAGAAGACCCTGGGGATGGAAA GGTTGAGGGAACGTATCTCTAAAGTTCATCCCAGGCCTGATCATCTGTGA CTATG		PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	8/9					chr9	TogoVar
PCBP3_chr21_45638725_45947450	45800838	GGGAGATG others(74): Show GGGAGATGGGGTGTTTGAGCATGGGGTTCCCGCCTCCTCCTCCAAGTGAC TTTCCTTCTGCTCCCAGCCCTGCATCCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG02559.hp2 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0290 a0001c0003t0014g0291 a0001c0003t0014g0290 a0001c0003t0014g0291	2	292	0.0069	-81	c.-12 others(102): Show c.-126+45399_-126+45479delTTTGAGCATGGGGTTCCCGCCTCC TCCTCCAAGTGACTTTCCTTCTGCTCCCAGCCCTGCATCCTCCCAGGAGA TGGGGTG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17				INFO_REALIGN_3_PRIME	chr21	TogoVar
PCED1B_chr12_47074621_47241660	47240795	ATTTTCAG others(74): Show ATTTTCAGCTTATGATGGGTCATAACCTCTTTGTAAGTTGAGGAGCATCT GTAGTTTTTATCGGAAGACTTAACCCCTTTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	322	0.0031	-81	c.44 others(92): Show c.4434_*4514delTTTTCAGCTTATGATGGGTCATAACCTCTTTGTA AGTTGAGGAGCATCTGTAGTTTTTATCGGAAGACTTAACCCCTTTGT		PCED1B	ENSG00000179715.13	transcript	ENST00000546455.6	protein_coding				4136		chr12	TogoVar
PCNT_chr21_46319156_46450769	46429275	TGTCAGGG others(74): Show TGTCAGGGGCATGGGCGGGGGGTGCCGGCGCTGTGCGAGCGCTCGTGAGA GGCATGGGGGGGCTGGCGCTGTGCACGTGCTC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01106.hp1 HG01109.hp1 others(45): Show HG01069.hp1 HG01106.hp1 HG01109.hp1 HG01192.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG02055.hp2 HG02109.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0004 a0006 a0013 others(8): Show a0004 a0006 a0013 a0016 a0020 a0023 a0034 a0040 a0044 a0047 a0066	a0004c0004 a0004c0023 a0004c0071 others(13): Show a0004c0004 a0004c0023 a0004c0071 a0006c0008 a0006c0016 a0006c0024 a0006c0069 a0013c0014 a0016c0025 a0020c0029 a0023c0034 a0034c0074 a0040c0072 a0044c0068 a0047c0070 a0066c0053	a0004c0004t0001 a0004c0004t0003 a0004c0004t0006 others(15): Show a0004c0004t0001 a0004c0004t0003 a0004c0004t0006 a0004c0023t0003 a0004c0071t0001 a0006c0008t0001 a0006c0016t0001 a0006c0024t0001 a0006c0069t0001 a0013c0014t0004 a0016c0025t0001 a0020c0029t0001 a0023c0034t0001 a0034c0074t0001 a0040c0072t0001 a0044c0068t0001 a0047c0070t0001 a0066c0053t0001	a0004c0004t0001g0089 a0004c0004t0001g0090 a0004c0004t0001g0096 others(45): Show a0004c0004t0001g0089 a0004c0004t0001g0090 a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0098 a0004c0004t0001g0099 a0004c0004t0001g0100 a0004c0004t0001g0102 a0004c0004t0001g0103 a0004c0004t0001g0104 a0004c0004t0001g0105 a0004c0004t0001g0110 a0004c0004t0003g0119 a0004c0004t0006g0101 a0004c0023t0003g0091 a0004c0023t0003g0092 a0004c0023t0003g0093 a0004c0071t0001g0106 a0006c0008t0001g0083 a0006c0008t0001g0084 a0006c0008t0001g0085 a0006c0008t0001g0086 a0006c0008t0001g0087 a0006c0008t0001g0088 a0006c0016t0001g0112 a0006c0016t0001g0113 a0006c0016t0001g0114 a0006c0016t0001g0116 a0006c0024t0001g0070 a0006c0024t0001g0071 a0006c0024t0001g0072 a0006c0069t0001g0095 a0013c0014t0004g0329 a0013c0014t0004g0330 a0013c0014t0004g0331 a0013c0014t0004g0332 a0016c0025t0001g0094 a0016c0025t0001g0117 a0016c0025t0001g0118 a0020c0029t0001g0109 a0020c0029t0001g0120 a0023c0034t0001g0324 a0023c0034t0001g0325 a0034c0074t0001g0108 a0040c0072t0001g0107 a0044c0068t0001g0069 a0047c0070t0001g0115 a0066c0053t0001g0326	48	332	0.1446	-81	c.769 others(98): Show c.7690+688_7691-652delCAGGGGCATGGGCGGGGGGTGCCGGCGC TGTGCGAGCGCTCGTGAGAGGCATGGGGGGGCTGGCGCTGTGCACGTGCT CGT		PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	35/46				INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46429278	CAGGGGCA others(74): Show CAGGGGCATGGGCGGGGGGTGCCGGCGCTGTGCGAGCGCTCGTGAGAGGC ATGGGGGGGCTGGCGCTGTGCACGTGCTCGTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00735.hp2 others(10): Show HG00140.hp1 HG00597.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01243.hp2 HG02523.hp2 HG03491.hp2 HG03492.hp2 NA18949.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0005 a0005	a0005c0006 a0005c0017 a0005c0027 others(1): Show a0005c0006 a0005c0017 a0005c0027 a0005c0040	a0005c0006t0001 a0005c0017t0001 a0005c0027t0001 others(1): Show a0005c0006t0001 a0005c0017t0001 a0005c0027t0001 a0005c0040t0001	a0005c0006t0001g0013 a0005c0006t0001g0015 a0005c0006t0001g0016 others(10): Show a0005c0006t0001g0013 a0005c0006t0001g0015 a0005c0006t0001g0016 a0005c0006t0001g0019 a0005c0006t0001g0021 a0005c0006t0001g0023 a0005c0006t0001g0081 a0005c0017t0001g0014 a0005c0017t0001g0020 a0005c0017t0001g0022 a0005c0027t0001g0017 a0005c0027t0001g0018 a0005c0040t0001g0012	13	332	0.0392	-81	c.769 others(98): Show c.7690+696_7691-644delTGGGCGGGGGGTGCCGGCGCTGTGCGAG CGCTCGTGAGAGGCATGGGGGGGCTGGCGCTGTGCACGTGCTCGTGAGGG GCA		PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	35/46				INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46429324	AGGCATGG others(74): Show AGGCATGGGGGGGCTGGCGCTGTGCACGTGCTCGTGAGGGGCACGGGCAG GGGGTGCCGGCGCTGTGCGAGCGCTCGTGAGG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0170 a0003c0003t0005g0170	1	332	0.0030	-81	c.769 others(98): Show c.7691-642_7691-562delGGGCAGGGGGTGCCGGCGCTGTGCGAGC GCTCGTGAGGGGCATGGGGGGGCTGGCGCTGTGCACGTGCTCGTGAGGGG CAC		PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	35/46				INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE4B_chr1_65787895_66379574	66139377	TTCCTCAT others(74): Show TTCCTCATCCCATTGTTCCCTCCATCTTCAAGCCAGCAAAGGCACGCCCT TCTAATGCTTCAAATCTCCTGGGCTTTCCACA	T T	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	118	0.0085	-81	c.282 others(102): Show c.282-108080_282-108000delCTCATCCCATTGTTCCCTCCATCT TCAAGCCAGCAAAGGCACGCCCTTCTAATGCTTCAAATCTCCTGGGCTTT CCACATC		PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16				INFO_REALIGN_3_PRIME	chr1	TogoVar
PFN3_chr5_177395109_177405661	177396434	GCTCTCCC others(74): Show GCTCTCCCAGTGCCCCCGCGGAGGTCCGCTCTCCCAGTGCCCCCGCGGAG GTCCTCTCTCCCAGTGCCCCCGCGGAGGTCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG03710.hp2 HG00558.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	416	0.0048	-81	c.36 others(92): Show c.3648_*3728delAGGACCTCCGCGGGGGCACTGGGAGAGAGGACCT CCGCGGGGGCACTGGGAGAGCGGACCTCCGCGGGGGCACTGGGAGAG		PFN3	ENSG00000196570.3	transcript	ENST00000358571.3	protein_coding				3674		chr5	TogoVar
PHF21B_chr22_44876162_45015005	44884054	CATCACCA others(74): Show CATCACCACCACCATGATCACCATTATCACCACCGCCACCACCATCACTG TGATCAGCACCATCACCATCATGATCACCATT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	300	0.0033	-81	c.137 others(98): Show c.1378-831_1378-751delAATGGTGATCATGATGGTGATGGTGCTG ATCACAGTGATGGTGGTGGCGGTGGTGATAATGGTGATCATGGTGGTGGT GAT		PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	12/12					chr22	TogoVar
PINX1_chr8_10759961_10844875	10805529	TGCTGAGG others(74): Show TGCTGAGGGAGGAGGCAGAGCACAGGAAGGGGCCACACTAGTGCTGAGGG GGTGACAGAGCACAGGAAGGGGCCACACTAGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02486.hp2 others(3): Show HG02109.hp2 HG02258.hp1 HG02486.hp2 HG02647.hp1 HG02976.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0025 a0002c0002t0001g0024 a0002c0002t0001g0030 others(3): Show a0001c0001t0001g0025 a0002c0002t0001g0024 a0002c0002t0001g0030 a0002c0002t0001g0131 a0002c0002t0001g0323 a0002c0002t0001g0324	6	352	0.0171	-81	c.471 others(100): Show c.471+14583_471+14663delGCTAGTGTGGCCCCTTCCTGTGCTCT GTCACCCCCTCAGCACTAGTGTGGCCCCTTCCTGTGCTCTGCCTCCTCCC TCAGC		PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6					chr8	TogoVar
PLCL1_chr2_197799593_198154863	197866112	ATATATAT others(74): Show ATATATATATAAACTATATATATATATAAACTATATATATATATAAACTA TATATATATATAAACTATATATATATATAAAC	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0073 a0002c0002t0005g0073	1	204	0.0049	-81	c.240 others(100): Show c.240+60784_240+60864delAACTATATATATATATAAACTATATA TATATATAAACTATATATATATATAAACTATATATATATATAAACTATAT ATATA		PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5				INFO_REALIGN_3_PRIME	chr2	TogoVar
PLEKHA7_chr11_16772297_17019414	16916939	CCGGGCAC others(74): Show CCGGGCACGGTGGCTCACACCTGTAATCCCAACCCTTTGGGAGGCCGAGG CGGGTGGATCAATTGAGGTCAGGAGTTCAAAA	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	244	0.0041	-81	c.222 others(100): Show c.222-45838_222-45758delTTTTGAACTCCTGACCTCAATTGATC CACCCGCCTCGGCCTCCCAAAGGGTTGGGATTACAGGTGTGAGCCACCGT GCCCG		PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26					chr11	TogoVar
POLRMT_chr19_612221_638537	632045	TTACAGGC others(74): Show TTACAGGCGTGAGCCACCGCACCAGGCCTCGGACCCTTGACCTCTTGATC CGCCCACCTTGGCCACCCAAAAGTGCTGGGAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01516.hp2 HG01517.hp2 others(1): Show HG00099.hp2 HG01516.hp2 HG01517.hp2 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0052 a0002c0003 a0002c0006 a0002c0052	a0002c0003t0002 a0002c0006t0002 a0002c0052t0002 a0002c0003t0002 a0002c0006t0002 a0002c0052t0002	a0002c0003t0002g0243 a0002c0003t0002g0244 a0002c0006t0002g0241 others(1): Show a0002c0003t0002g0243 a0002c0003t0002g0244 a0002c0006t0002g0241 a0002c0052t0002g0242	4	422	0.0095	-81	c.193 others(96): Show c.193+708_193+788delCTCCCAGCACTTTTGGGTGGCCAAGGTGGG CGGATCAAGAGGTCAAGGGTCCGAGGCCTGGTGCGGTGGCTCACGCCTGT A		POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	2/20					chr19	TogoVar
POU2F3_chr11_120235140_120324945	120318608	AGCCCCTC others(74): Show AGCCCCTCCTAGGAGCTTACCATTTTCACCTTCCTTGCCTATGCCCTTGC CTTCTAGTTCCAAATATTTTAGCCAGCTTCAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0173 a0001c0001t0032g0173	1	320	0.0031	-81	c.21 others(90): Show c.217_*297delGCCCCTCCTAGGAGCTTACCATTTTCACCTTCCTTG CCTATGCCCTTGCCTTCTAGTTCCAAATATTTTAGCCAGCTTCAC		POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	13/13			217		chr11	TogoVar
PPARGC1B_chr5_149725310_149860022	149809232	CATAGATA others(74): Show CATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCA TCTCTACCATAGATAGATAGATAGATAGATAG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01071.hp1 others(22): Show HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01243.hp1 HG01346.hp2 HG01884.hp1 HG02145.hp2 HG02257.hp2 HG02738.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03704.hp2 HG03831.hp2 HG04184.hp1 NA18906.hp1 NA18944.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18999.hp1 NA19000.hp2 NA19043.hp1 NA19076.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0004 a0001c0006 others(6): Show a0001c0001 a0001c0004 a0001c0006 a0001c0009 a0002c0002 a0003c0012 a0004c0015 a0005c0011 a0007c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0004t0006 a0001c0004t0030 a0001c0006t0001 a0001c0009t0002 a0001c0009t0027 a0001c0009t0046 a0002c0002t0008 a0003c0012t0014 a0004c0015t0001 a0005c0011t0009 a0007c0023t0017	a0001c0001t0001g0201 a0001c0001t0001g0271 a0001c0001t0002g0148 others(22): Show a0001c0001t0001g0201 a0001c0001t0001g0271 a0001c0001t0002g0148 a0001c0001t0007g0112 a0001c0001t0007g0176 a0001c0001t0007g0177 a0001c0001t0007g0187 a0001c0004t0006g0113 a0001c0004t0006g0115 a0001c0004t0006g0277 a0001c0004t0030g0253 a0001c0006t0001g0099 a0001c0006t0001g0209 a0001c0006t0001g0316 a0001c0009t0002g0117 a0001c0009t0027g0216 a0001c0009t0046g0042 a0002c0002t0008g0004 a0003c0012t0014g0120 a0004c0015t0001g0118 a0004c0015t0001g0119 a0004c0015t0001g0196 a0005c0011t0009g0054 a0005c0011t0009g0088 a0007c0023t0017g0109	25	320	0.0781	-81	c.79- others(98): Show c.79-11174_79-11094delAGATAGATAGATAGATAGATCCATCTCT ACCATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATA GAT		PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11				INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP1R16B_chr20_38800697_38928024	38895816	TCCTCCTT others(74): Show TCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTTCCCT CCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0149 a0001c0009t0001g0149	1	244	0.0041	-81	c.467 others(96): Show c.467+124_467+204delCTCCTCCCTTCCTCCTTCCTTCTTTCTTCC CTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTC T		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10				INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38895835	TCCTCCCT others(74): Show TCCTCCCTTCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTT TCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp1 HG01884.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0222 a0001c0001t0021g0128 a0001c0001t0001g0222 a0001c0001t0021g0128	2	244	0.0082	-81	c.467 others(96): Show c.467+133_467+213delTCCTCCTTCCTTCTTTCTTCCCTCCCTCCC TCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCC T		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10				INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38895843	TCCTCCTT others(74): Show TCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCT CCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	244	0.0041	-81	c.467 others(96): Show c.467+168_467+248delCCTTCTTTCTTCCCTCCCTCCCTCCTTCCT TCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCT T		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10				INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP2R3B_chrX_328933_391907	342516	GGAGACCT others(74): Show GGAGACCTCGCCAACGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCG GGAGTGAGACCTCGCCAACGGGAGGCGGGAGT	G G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	25	0.0400	-81	c.103 others(98): Show c.1037-666_1037-586delACTCCCGCCTCCCGTTGGCGAGGTCTCA CTCCCGCCTCCCGTTGGCGAGGTCTCCCTCCCGCCTCCCGTTGGCGAGGT CTC		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	7/12					chrX	TogoVar
PPP2R5C_chr14_101756709_101932977	101782343	CTCTCCCC others(74): Show CTCTCCCCTTCTCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCTCTGGC TCTTTCTCCCCTTCCCTCTCTCTCCCCCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02895.hp1 HG03041.hp2 others(1): Show HG01433.hp2 HG02895.hp1 HG03041.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 a0001c0001t0001 a0001c0001t0009 a0001c0001t0014	a0001c0001t0001g0066 a0001c0001t0001g0113 a0001c0001t0009g0122 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0113 a0001c0001t0009g0122 a0001c0001t0014g0110	4	138	0.0290	-81	c.94- others(96): Show c.94-3667_94-3587delTTCTCTCTCTCTTTCTCCCCTTCCCTCTCT CTCCCCTCTGGCTCTTTCTCCCCTTCCCTCTCTCTCCCCCCCTTTCTCCC C		PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15				INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101782363	TTCTCCCC others(74): Show TTCTCCCCTTCCCTCTCTCTCCCCTCTGGCTCTTTCTCCCCTTCCCTCTC TCTCCCCCCCTTTCTCCCCATTCCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0129 a0002c0002t0003g0129	1	138	0.0073	-81	c.94- others(96): Show c.94-3647_94-3567delTTCCCTCTCTCTCCCCTCTGGCTCTTTCTC CCCTTCCCTCTCTCTCCCCCCCTTTCTCCCCATTCCCCTCCCTCTCTCCC C		PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15				INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP6R2_chr22_50338327_50450090	50339293	GTGGTATG others(74): Show GTGGTATGTGGTGTGTGTTGTGGGTGTAGTGTGTGTGGTGTGTGTGGTAT GTAGTGTGTGGTATGTGGTGTGTGTGGCTTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0014 a0014	a0014c0032 a0014c0032	a0014c0032t0011 a0014c0032t0011	a0014c0032t0011g0287 a0014c0032t0011g0287	1	340	0.0029	-81	c.-44 others(92): Show c.-4404_-4324delTGGTATGTGGTGTGTGTTGTGGGTGTAGTGTGTG TGGTGTGTGTGGTATGTAGTGTGTGGTATGTGGTGTGTGTGGCTTGC		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding				4033		chr22	TogoVar
PRKCA_chr17_66297613_66815743	66798378	CGGTGGTG others(74): Show CGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTG GTGGTGACGGTGGTGGTGGTGGTGACGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0050 a0001c0001t0097g0050	1	178	0.0056	-81	c.185 others(100): Show c.1855-5465_1855-5385delTGGTGATGGTGGTGGTGGTGGTGGTG ACGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGA		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16				INFO_REALIGN_3_PRIME	chr17	TogoVar
PSMD5_chr9_120811053_120847922	120824435	ACATATTG others(74): Show ACATATTGAACCCCTGTCAAAGATTAAGATATCCCTGAACAGGGCCAAGT CATACCAACCTGTTTTCTGTAAAACCTGTTTT	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0147 a0004c0006t0001g0147	1	356	0.0028	-81	c.984 others(92): Show c.984_1006+58delAAAACAGGTTTTACAGAAAACAGGTTGGTATGAC TTGGCCCTGTTCAGGGATATCTTAATCTTTGACAGGGGTTCAATATG	p.Lys others(5): Show p.Lys329fs	PSMD5	ENSG00000095261.14	transcript	ENST00000210313.8	protein_coding	7/10	984/1515	328/504			chr9	TogoVar
PTPN9_chr15_75458251_75584315	75504411	GACCCGTC others(74): Show GACCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCG CCCGGTCCGGGAGGGAGGTGGAGGGGTCAGCC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0088 a0001c0001t0031g0088	1	326	0.0031	-81	c.968 others(98): Show c.968+1183_968+1263delGGCTGACCCCTCCACCTCCCTCCCGGAC CGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACG GGT		PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12					chr15	TogoVar
PTPRT_chr20_42067756_43194906	42888254	ATGCCACT others(74): Show ATGCCACTGAGATCTTAGGGTTTAACTGTTAGCACCGTAGAGCTTTGTAC AACCTGACTAATATATAAAGTGTGTCATACCT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0055 a0001c0002t0022g0055	1	62	0.0161	-81	c.89- others(96): Show c.89-2403_89-2323delAGGTATGACACACTTTATATATTAGTCAGG TTGTACAAAGCTCTACGGTGCTAACAGTTAAACCCTAAGATCTCAGTGGC A		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30					chr20	TogoVar
PUM1_chr1_30926506_31070717	30972260	AAAGAAAA others(74): Show AAAGAAAAGAAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02886.hp1 HG01952.hp2 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0049 a0001c0002t0003g0310 a0001c0002t0001g0049 a0001c0002t0003g0310	2	334	0.0060	-81	c.150 others(100): Show c.1506+2310_1506+2390delCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCCTTCCCTTCTT TTCTT		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21					chr1	TogoVar
PXDN_chr2_1626887_1749515	1711551	TCTCCACC others(74): Show TCTCCACCAGCATCCACTCTCCACCAGCACCCACTCCACCAGCACCCACT CTCCACCAGCACCCACTCTCCACCAGCACCCG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03540.hp1 HG02280.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0292 a0001c0001t0002g0293 a0001c0001t0001g0292 a0001c0001t0002g0293	2	322	0.0062	-81	c.201 others(100): Show c.201-18498_201-18418delCGGGTGCTGGTGGAGAGTGGGTGCTG GTGGAGAGTGGGTGCTGGTGGAGTGGGTGCTGGTGGAGAGTGGATGCTGG TGGAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22					chr2	TogoVar
QTRT1_chr19_10696439_10718365	10717681	TATATGAA others(74): Show TATATGAACCAATGGGAAATTCTTAGGGAACGAGGTAGTAGCTCAATCCC CAACACCATTGGTCCACATTGTCTACTGGCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	404	0.0025	-81	c.44 others(92): Show c.4412_*4492delATATGAACCAATGGGAAATTCTTAGGGAACGAGG TAGTAGCTCAATCCCCAACACCATTGGTCCACATTGTCTACTGGCAC		QTRT1	ENSG00000213339.9	transcript	ENST00000250237.10	protein_coding				4317		chr19	TogoVar
RAB11FIP3_chr16_420649_528011	507738	CACGTTTC others(74): Show CACGTTTCCCGTTTTCAGTATCATCTGCCCGTTCTGAGCCATTTGCTCTC TAGCCCTACCATACAGCTGCCATCCTAAGAGT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0007	1	295	0.0034	-81	c.149 others(100): Show c.1499+2246_1499+2326delCCTACCATACAGCTGCCATCCTAAGA GTACGTTTCCCGTTTTCAGTATCATCTGCCCGTTCTGAGCCATTTGCTCT CTAGC		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	8/13				INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40B_chr17_82649973_82703698	82664114	GAGGGTGC others(74): Show GAGGGTGCTCCCTGGGGTGCTGTGCCGATGGTGGTGGTGGGAGGGTGTTC CCCGGGGGCGCTGTGCCGACGGTGGTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02886.hp1 others(6): Show HG01891.hp1 HG02145.hp2 HG02886.hp1 HG02970.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0034 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0034 a0001c0001t0037	a0001c0001t0005g0275 a0001c0001t0007g0010 a0001c0001t0007g0225 others(6): Show a0001c0001t0005g0275 a0001c0001t0007g0010 a0001c0001t0007g0225 a0001c0001t0007g0254 a0001c0001t0007g0274 a0001c0001t0007g0279 a0001c0001t0007g0328 a0001c0001t0034g0273 a0001c0001t0037g0318	9	338	0.0266	-81	c.203 others(96): Show c.203+301_203+381delTCCCCCACCACCGTCGGCACAGCGCCCCCG GGGAACACCCTCCCACCACCACCATCGGCACAGCACCCCAGGGAGCACCC T		RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	2/5					chr17	TogoVar
RANBP17_chr5_170857018_171305015	170916079	ATTATATT others(74): Show ATTATATTCTATATTGCATTATCATGCGTTATATTCTATATTGCATTATC ATGCGTTATATTCTATATTGCATTATAATGCG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01981.hp1 HG02257.hp1 others(1): Show HG00738.hp1 HG01981.hp1 HG02257.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0003 a0001c0003t0001 a0001c0001t0002 a0001c0002t0003 a0001c0003t0001	a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0002t0003g0164 others(1): Show a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0002t0003g0164 a0001c0003t0001g0029	4	192	0.0208	-81	c.835 others(96): Show c.835-364_835-284delCATGCGTTATATTCTATATTGCATTATCAT GCGTTATATTCTATATTGCATTATAATGCGTTATATTCTATATTGCATTA T		RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	8/27				INFO_REALIGN_3_PRIME	chr5	TogoVar
RBFOX1_chr16_6014024_7718340	7186553	TATAAGCT others(74): Show TATAAGCTTAAACATATTTATATAAATATAAGCTTAAACATATTTATATA AATATAAGCATAAACATATTTATATAAATATA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19240.hp1 HG03139.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0023 a0001c0001t0011 a0001c0001t0023	a0001c0001t0011g0035 a0001c0001t0023g0047 a0001c0001t0011g0035 a0001c0001t0023g0047	2	68	0.0294	-81	c.27+ others(100): Show c.27+134459_27+134539delAGCTTAAACATATTTATATAAATATA AGCTTAAACATATTTATATAAATATAAGCATAAACATATTTATATAAATA TAATA		RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15				INFO_REALIGN_3_PRIME	chr16	TogoVar
RCAN1_chr21_34511442_34620113	34550542	TGTCATCT others(74): Show TGTCATCTATGAGCCAAGGAGCAAGGCCTCTGAGGGAAATAGCCCTGCCA TCACCTTGATCTTGGACTTCCAGCCTCCAGGA	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0268 a0001c0002t0001g0268	1	378	0.0027	-81	c.253 others(100): Show c.253-26913_253-26833delTCCTGGAGGCTGGAAGTCCAAGATCA AGGTGATGGCAGGGCTATTTCCCTCAGAGGCCTTGCTCCTTGGCTCATAG ATGAC		RCAN1	ENSG00000159200.18	transcript	ENST00000313806.9	protein_coding	1/3					chr21	TogoVar
RGPD2_chr2_87750960_87830796	87825431	CGCCGCCG others(74): Show CGCCGCCGCCGCCCGGCCAGGCCGAGGCCGAGGCCGAGGCCGCCGTCGCC GCCGCCGCCGCCCGGCCGAGGCCGAGGCCGAG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0001 a0009c0022t0001	a0009c0022t0001g0104 a0009c0022t0001g0104	1	176	0.0057	-81	c.72+ others(94): Show c.72+146_72+226delCTCGGCCTCGGCCTCGGCCGGGCGGCGGCGGC GGCGACGGCGGCCTCGGCCTCGGCCTCGGCCTGGCCGGGCGGCGGCGGC		RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22					chr2	TogoVar
RIPOR3_chr20_50581108_50696542	50609980	ACCACCCC others(74): Show ACCACCCCTGCCTCACCTGCCACCCCTGCCTCACCTGCCACCCCTGCCTC ACCTGCCACCCCTGCCTCCCCTGCCTCCCCTG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02258.hp2 HG01361.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0045 a0001c0001t0001g0054	2	280	0.0071	-81	c.427 others(96): Show c.427-339_427-259delCAGGGGAGGCAGGGGAGGCAGGGGTGGCAG GTGAGGCAGGGGTGGCAGGTGAGGCAGGGGTGGCAGGTGAGGCAGGGGTG G		RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	6/21					chr20	TogoVar
RNF175_chr4_153705160_153765024	153724962	ACGTGGGG others(74): Show ACGTGGGGGAGCGGGCAGGGGTGAGCTGTGTGGGGGAGCGGGCAGGGGTG AGCTGCGTGGGGGAGCGGGCAGGGGTAGGCTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp2 others(65): Show HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00642.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01433.hp2 HG01516.hp1 HG02040.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp1 HG03017.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18960.hp2 NA18961.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp1 NA18979.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19004.hp1 NA19058.hp1 NA19062.hp1 NA19065.hp1 NA19070.hp2 NA19076.hp2 NA19078.hp2 NA19080.hp2 NA19083.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA20805.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0008 a0002c0002 a0008c0008	a0002c0002t0001 a0002c0002t0002 a0008c0008t0001 a0002c0002t0001 a0002c0002t0002 a0008c0008t0001	a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 others(46): Show a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0028 a0002c0002t0001g0082 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0100 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0116 a0002c0002t0001g0123 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0142 a0002c0002t0001g0156 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0171 a0002c0002t0002g0044 a0008c0008t0001g0114 a0008c0008t0001g0115	68	394	0.1726	-81	c.402 others(98): Show c.402-1585_402-1505delCAGCCTACCCCTGCCCGCTCCCCCACGC AGCTCACCCCTGCCCGCTCCCCCACACAGCTCACCCCTGCCCGCTCCCCC ACG		RNF175	ENSG00000145428.15	transcript	ENST00000347063.9	protein_coding	4/8					chr4	TogoVar
RNF213_chr17_80255852_80403794	80314718	GAGGTAAT others(74): Show GAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGAGGT GATGGTGGTGGTGGTGGAGGTAATGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp1 HG02630.hp2 HG02965.hp1	a0023 a0028 a0023 a0028	a0023c0112 a0028c0080 a0023c0112 a0028c0080	a0023c0112t0079 a0028c0080t0077 a0023c0112t0079 a0028c0080t0077	a0023c0112t0079g0276 a0028c0080t0077g0290 a0023c0112t0079g0276 a0028c0080t0077g0290	2	292	0.0069	-81	c.281 others(100): Show c.2811+1552_2811+1632delAGGTAATGGAGGTGATGGTGGTGATG GTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTAATGGA GGTGA		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					chr17	TogoVar
RNGTT_chr6_88604897_88968618	88697886	TATGATAT others(74): Show TATGATATATATATATGATATATATATGAAATACATATATATGATATATA TATGAAATACATATATATGATATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0183 a0001c0001t0008g0183	1	220	0.0046	-81	c.144 others(102): Show c.1440-19548_1440-19468delCATATATATATATCATATATATGT ATTTCATATATATATCATATATATGTATTTCATATATATATCATATATAT ATATCAT		RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15					chr6	TogoVar
RPTOR_chr17_80539838_80971368	80918456	CGAGCACC others(74): Show CGAGCACCCTCGCCGGAGTCATAGCCACGAGCACCCTCGCGGGGGTCATA GCCATGAGCACCCTCGCGGGGGTCATAGCCAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0088 a0001c0071t0088	a0001c0071t0088g0035 a0001c0071t0088g0035	1	196	0.0051	-81	c.252 others(100): Show c.2521-4257_2521-4177delGCCGGAGTCATAGCCACGAGCACCCT CGCGGGGGTCATAGCCATGAGCACCCTCGCGGGGGTCATAGCCATGAGCA CCCTC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	21/33				INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80918467	GCCGGAGT others(74): Show GCCGGAGTCATAGCCACGAGCACCCTCGCGGGGGTCATAGCCATGAGCAC CCTCGCGGGGGTCATAGCCATGAGCACCCTCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00621.hp1 others(32): Show HG00140.hp1 HG00323.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01884.hp2 HG01934.hp1 HG02630.hp2 HG02717.hp2 HG02886.hp1 HG02897.hp1 HG03017.hp1 HG03195.hp2 HG03540.hp2 HG03831.hp1 HG06807.hp2 NA18980.hp2 NA19043.hp1 NA19057.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0001c0004 a0001c0006 others(17): Show a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0021 a0001c0023 a0001c0025 a0001c0028 a0001c0052 a0001c0070 a0001c0076 a0001c0079 a0001c0087 a0005c0092	a0001c0003t0013 a0001c0003t0014 a0001c0004t0001 others(26): Show a0001c0003t0013 a0001c0003t0014 a0001c0004t0001 a0001c0004t0014 a0001c0006t0013 a0001c0006t0076 a0001c0007t0030 a0001c0008t0036 a0001c0011t0024 a0001c0012t0003 a0001c0012t0018 a0001c0013t0013 a0001c0013t0089 a0001c0014t0002 a0001c0014t0034 a0001c0017t0005 a0001c0017t0015 a0001c0021t0065 a0001c0023t0002 a0001c0025t0051 a0001c0025t0052 a0001c0028t0006 a0001c0028t0019 a0001c0052t0003 a0001c0070t0020 a0001c0076t0011 a0001c0079t0050 a0001c0087t0002 a0005c0092t0012	a0001c0003t0013g0043 a0001c0003t0014g0102 a0001c0004t0001g0152 others(32): Show a0001c0003t0013g0043 a0001c0003t0014g0102 a0001c0004t0001g0152 a0001c0004t0014g0081 a0001c0004t0014g0098 a0001c0006t0013g0068 a0001c0006t0076g0192 a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0008t0036g0002 a0001c0011t0024g0147 a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0012t0018g0194 a0001c0013t0013g0062 a0001c0013t0013g0065 a0001c0013t0089g0047 a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0014t0002g0055 a0001c0014t0034g0072 a0001c0017t0005g0067 a0001c0017t0015g0082 a0001c0021t0065g0112 a0001c0023t0002g0049 a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0028t0006g0124 a0001c0028t0019g0024 a0001c0052t0003g0149 a0001c0070t0020g0003 a0001c0076t0011g0084 a0001c0079t0050g0097 a0001c0087t0002g0051 a0005c0092t0012g0163	35	196	0.1786	-81	c.252 others(100): Show c.2521-4255_2521-4175delCGGAGTCATAGCCACGAGCACCCTCG CGGGGGTCATAGCCATGAGCACCCTCGCGGGGGTCATAGCCATGAGCACC CTCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	21/33				INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPO3_chr6_127113671_127204481	127139509	GATTTCTA others(74): Show GATTTCTAATTATTTCTAACCTTAAAAAAAATATATCTTTTTTTTAAGGT TAGAAAAAAAATATTTCTAACCTTAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0253 a0001c0001t0003g0253	1	310	0.0032	-81	c.98- others(96): Show c.98-9108_98-9028delTATATCTTTTTTTTAAGGTTAGAAAAAAAA TATTTCTAACCTTAAAAAAAAATTTCTAATTATTTCTAACCTTAAAAAAA A		RSPO3	ENSG00000146374.14	transcript	ENST00000356698.9	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr6	TogoVar
RTP5_chr2_241864729_241878823	241865223	TGTTTGTG others(74): Show TGTTTGTGGTATGTGTAGTGTGTGGTGTGTGGTGTAGTGTGTGGTGTGTG TGGTGTTTGGTTGTGTGGTGTGTGTAGTGTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0003 a0004c0004t0001g0003	1	365	0.0027	-81	c.-45 others(92): Show c.-4533_-4453delGTTTGTGGTATGTGTAGTGTGTGGTGTGTGGTGT AGTGTGTGGTGTGTGTGGTGTTTGGTTGTGTGGTGTGTGTAGTGTGC		RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding				4505		chr2	TogoVar
SARDH_chr9_133658560_133743352	133669051	CTCCCTCT others(74): Show CTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCC TCCCTCTCCCTCACCCTCCCTCTCTCTCTCCT	C C	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	262	0.0038	-81	c.249 others(100): Show c.2495+1452_2495+1532delAGGAGAGAGAGAGGGAGGGTGAGGGA GAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAGGGAG AGGGA		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20					chr9	TogoVar
SARDH_chr9_133658560_133743352	133669063	CACCCTCC others(74): Show CACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTC ACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0138 a0002c0010t0001g0138	1	262	0.0038	-81	c.249 others(100): Show c.2495+1440_2495+1520delAAGGGAGAGGGAAGGAGAGAGAGAGG GAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGATGG AGGGT		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20					chr9	TogoVar
SBNO2_chr19_1102638_1179268	1137289	GGTGGGGG others(74): Show GGTGGGGGGAGGCTCGGGCCGGGGTGCGGTGGGGGGAGGCTCGGGCCGGG GTGCGGTGGGGGGAGGCTCGGGCCGGGGTGCA	G G	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	203	0.0049	-81	c.280 others(98): Show c.280-9605_280-9525delTGCACCCCGGCCCGAGCCTCCCCCCACC GCACCCCGGCCCGAGCCTCCCCCCACCGCACCCCGGCCCGAGCCTCCCCC CAC		SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31					chr19	TogoVar

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