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
PLEC_chr8_143910153_143944597	143928664	C C	CAGCGGGT others(297): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTG CAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAG TAGAT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19000.hp2 NA19011.hp1 others(4): Show NA18994.hp1 NA19000.hp2 NA19011.hp1 NA19056.hp2 NA19060.hp2 NA19084.hp1 NA19091.hp2	a0002 a0096 a0102 a0002 a0096 a0102	a0002c0002 a0096c0052 a0102c0051 a0002c0002 a0096c0052 a0102c0051	a0002c0002t0002 a0096c0052t0002 a0102c0051t0002 a0002c0002t0002 a0096c0052t0002 a0102c0051t0002	a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0060 others(2): Show a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0060 a0096c0052t0002g0076 a0102c0051t0002g0075	7	218	0.0321	304	c.326 others(321): Show c.3260+438_3260+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928664	C C	CAGCGGGT others(297): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTG CAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAG TAGAT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18994.hp1 NA19000.hp2 others(4): Show NA18982.hp2 NA18994.hp1 NA19000.hp2 NA19011.hp1 NA19056.hp2 NA19084.hp1 NA19091.hp2	a0002 a0085 a0092 a0002 a0085 a0092	a0002c0002 a0085c0045 a0092c0044 a0002c0002 a0085c0045 a0092c0044	a0002c0002t0002 a0085c0045t0002 a0092c0044t0002 a0002c0002t0002 a0085c0045t0002 a0092c0044t0002	a0002c0002t0002g0045 a0002c0002t0002g0058 a0002c0002t0002g0061 others(4): Show a0002c0002t0002g0045 a0002c0002t0002g0058 a0002c0002t0002g0061 a0002c0002t0002g0070 a0002c0002t0002g0073 a0085c0045t0002g0027 a0092c0044t0002g0057	7	173	0.0405	304	c.321 others(321): Show c.3218+438_3218+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PNPLA7_chr9_137454952_137555402	137518258	T T	TTCACTCA others(297): Show TTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTGACTCCACTC TGTCCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCC CACTCACTCACTCGACTCTGTCCACTCCATCCCCCACTCACTCACTCCAC TCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTGTCCACTCCATCCC TCACTCACTCACTCCACTCTGTCCACTCCATCCCTCACTCACTCACTCCA CTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCATC CCCCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02735.hp1 HG02145.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0104 a0001c0001t0001g0105	2	183	0.0109	304	c.108 others(323): Show c.1084+1658_1084+1659insCGGGGGATGGAGTGGACAGAGTGGAG TGAGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGAT GGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGATGGAGTGGACAGAGTGG AGTGAGTGACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGGGA TGGAGTGGACAGAGTCGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGTG GAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTCAGTGAGTGGGG GATGGAGTGAGCAGAGTGGAGTGAGTGA	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PPP1R12A_chr12_79768568_79940097	79867530	G G	GAAAAAAG others(297): Show GAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCT AAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0094 a0001c0002t0009g0094	1	123	0.0081	304	c.368 others(321): Show c.368+5277_368+5278insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTTTTTT	PPP1R12A	ENSG00000058272.19	transcript	ENST00000450142.7	protein_coding	2/24			chr12	TogoVar
PPP1R21_chr2_48435766_48520386	48502400	T T	TAAAAAGA others(297): Show TAAAAAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0045 a0001c0003t0045	a0001c0003t0045g0159 a0001c0003t0045g0159	1	362	0.0028	304	c.193 others(323): Show c.1936-3156_1936-3155insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAGAG	PPP1R21	ENSG00000162869.16	transcript	ENST00000294952.13	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKD1_chr14_29571479_29932847	29575102	T T	TTTGTTTA others(297): Show TTTGTTTATTCACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACTGCAGGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02976.hp2 HG02109.hp1 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0067 a0001c0003t0003g0138 a0001c0003t0001g0067 a0001c0003t0003g0138	2	153	0.0131	304	c.21 others(315): Show c.2135_*2136insCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCCT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGAAGTGAATAAACAA	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding		1376		chr14	TogoVar
PRPF31_chr19_54110754_54136713	54133994	C C	CACCTCCC others(297): Show CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCT CCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	176	0.0057	304	c.25 others(315): Show c.2562_*2563insACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACC TCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTC CCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCCCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2282		chr19	TogoVar
RAB11FIP3_chr16_420649_528011	504502	T T	TTCCTGTA others(297): Show TTCCTGTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCT TGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACC CCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTC CTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCC TCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTT GTGCAACCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCA CCTCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02896.hp2 HG01981.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0173 a0001c0001t0002g0176	2	11	0.1818	304	c.139 others(323): Show c.1396-1013_1396-1012insACCTCCTCCTGTACCCCCTCACCTCC TCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCC TCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCC TGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCA CCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTAC CCCCTCACCTCCTTGTGCAACCCTCACCTCCTGTACCCCCTCACCTCCTC CTGTACCCCCCTCACCTCCTCCTGTACC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114044392	C C	CCTCACTC others(297): Show CCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGCTCCCCCCCCG CCTCACTCGCTGAGCACCCCCCCGCCGCCTCACTCGCTGAGCCCCCCGCC CCGCCTCACTCGCTGAGCCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCT CCCCCCCCCGCCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGC ACCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGC TGAGCTCCCCCCCCCGCCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCG CTGAG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	53	0.0189	304	c.278 others(321): Show c.278-3299_278-3298insCTCAGCGAGTGAGGCGGGGGGGGAGCTC AGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGC TCAGCGAGTGAGGCGGGGCGGGGGGGTGCTCAGCGAGTGAGGCGGGGGGG GAGCTCAGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCG GGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGG CGGCGGGGGGGTGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGA GGCGGGGGGGGAGCTCAGCGAGTGAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RBFOX1_chr16_6014024_7718340	7447278	C C	CAAAAATT others(297): Show CAAAAATTACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0046 a0001c0001t0014g0046	1	68	0.0147	304	c.28- others(321): Show c.28-70861_28-70860insCTTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAATTA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7447278	C C	CAAAAATT others(297): Show CAAAAATTACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0223 a0001c0001t0029g0223	1	232	0.0043	304	c.88- others(321): Show c.88-70861_88-70860insCTTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAATTA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBMS2_chr12_56516820_56601193	56558297	C C	CGGCCTCC others(297): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCT TTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGTTCTGTCACCCAAG CTGGAGTGCAATGATGCAATCTTGTCTCACTGCACCTTTGCCTCCCGGGT TCAAGCGATTCTTCTGCCTCAGCCTCCCGAATAGGTGGGATTACAGGCAT GTGGCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTT GCCATATTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGAACCACCC GCCTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01884.hp2 HG01891.hp1 others(9): Show HG01256.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02683.hp1 HG02895.hp2 HG03139.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0001c0002t0005 a0001c0002t0062 a0001c0002t0080 a0001c0002t0081 a0001c0002t0082 a0001c0002t0083 a0001c0002t0084 a0001c0003t0050	a0001c0001t0001g0023 a0001c0001t0008g0061 a0001c0002t0002g0084 others(9): Show a0001c0001t0001g0023 a0001c0001t0008g0061 a0001c0002t0002g0084 a0001c0002t0002g0232 a0001c0002t0005g0108 a0001c0002t0062g0146 a0001c0002t0080g0102 a0001c0002t0081g0105 a0001c0002t0082g0104 a0001c0002t0083g0107 a0001c0002t0084g0103 a0001c0003t0050g0191	12	44	0.2727	304	c.67- others(319): Show c.67-4083_67-4082insTGCGCCTGGCCTTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTTTTGTTCTGTCACCCAAGCTGGAGTGCAATGATGCA ATCTTGTCTCACTGCACCTTTGCCTCCCGGGTTCAAGCGATTCTTCTGCC TCAGCCTCCCGAATAGGTGGGATTACAGGCATGTGGCACCATGCCCGGCT AATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATATTGGCCAGGCTG GTCTTGAACTCCTGACATCAAGTGAACCACCCGCCTTGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCAC	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(297): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACA TACATATGTATGTATGTGTATACATACGTATGTATGTGTACACATACGTA TGTATGTGTACACATACATATGTATGTATGTGTACACATACGTATGTATG TGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 NA18941.hp2 HG02523.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	378	0.0053	304	c.-23 others(315): Show c.-2328_-2327insGTACACATACATACGTATGTGTACACATACATAC ATATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATACACATACATACATATGTATGTATACACATACATACGTATGTATACAC ATACATACATACGTATGTATACACATACATACGTATGTATACACATACAT ACATACGTATGTATACACATACATACATACGTATGTATACACATACATAC ATACGTATGCATACACATACATATGTATGCATACACATACATATGTATGC ATACACATACATATGTATGC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759522	T T	TGTATGTG others(297): Show TGTATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTGTA TGCATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATA CATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACA TACGTATGTATGTGTATACATACATACGTATGTATGTGTACACATACGTA CGTATGTGTATACATACATACGTATGTATGTGTACACATACGTACGTATG TGTACACATACATACGTATGTATGTGTACACATACGTATGTATGTGTACA CATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	389	0.0026	304	c.-23 others(315): Show c.-2338_-2337insGTATGTGTACACATACATACGTATGTGTACACAT ACATACGTATGTATGTGTACACATACGTACGTATGTGTACACATACATAC GTATGTATGTATACACATACGTACGTATGTGTACACATACATACGTATGT ATGTATACACATACATACGTATGTATACACATACATACATACGTATGTAT ACACATACATACATACGTATGTATACACATACATACATACGTATGTATAC ACATACATACATACGTATGCATACACATACATATGTATGCATACACATAC ATATGTATGCATACACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2113		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759540	T T	TATGTATG others(297): Show TATGTATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTA TGTGTATGCATACGTATGTATGTATGTGTATACATACGTATGTATGTATG TGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATA CATACATACGTATGTATGTGTACACATACGTATGTATGTGTATACATACA TACGTATGTATGTGTACACATACGTATGTATGTGTACACATACATACGTA TGTATGTGTACACATACGTATGTATGTGTACACATACATATGTATGTATG TGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	444	0.0023	304	c.-23 others(315): Show c.-2356_-2355insGTACACATACATACATATGTATGTGTACACATAC ATACGTATGTGTACACATACATACGTATGTATGTGTACACATACATACGT ATGTGTACACATACATACGTATGTATGTATACACATACATACGTATGTGT ACACATACATACGTATGTATGTATACACATACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACATACGTATGCATACACATACATACATACGTATGCATACACATACAT ATGTATGCATACACATACAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2131		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759610	C C	CATACGTA others(297): Show CATACGTATGTATGTGTATACATACATATGTATGTATGTGTATACATACG TATGTATGTGTATACATACATATGTATGTATGTGTATACATACGTATGTA TGTGTATACATACATACGTATGTATGTGTACACATACGTATGTATGTGTA CACATACATATGTATGTATGTGTACACATACATATGTATGTATGTGTATA CATATGTATGTATGTGTACACATACATATGTATGTATGTGTATACATACG TATGTATGTGTATACATACGTATGTATGTGTATACATACATACGTATGTA TGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18988.hp2 NA18939.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	403	0.0050	304	c.-24 others(315): Show c.-2426_-2425insACACATACATACGTATGTATGTATACACATACAT ACGTATGTATACACATACATACGTATGTATACACATACATACATATGTAT GTGTACACATACATACATATGTATACACATACATACATATGTATGTGTAC ACATACATACATATGTATGTGTACACATACATACGTATGTGTACACATAC ATACGTATGTATGTATACACATACATACGTATGTATACACATACATACAT ATGTATGTATACACATACATACGTATGTATACACATACATACATATGTAT GTATACACATACATACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2201		chr3	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(297): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATAATATAAA ATATATATATATAATATATATATATAAAATATATATATAAAATATATATA TAATATATATATATAAAATATATATATAAAATATATATATATAATATATA TATAAAATATATATATATATTATATATATATATAAAATATATATAAAATA TATATATAATATATATATAAAATATATATATAATATATATATAATATATA TATAA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0150 a0002c0017t0001g0150	1	240	0.0042	304	c.67- others(317): Show c.67-812_67-811insTTATATATATATTATATATATATTATATATAT ATTTTATATATATATTATATATATATTTTATATATATTTTATATATATAT ATAATATATATATATATTTTATATATATATTATATATATATATTTTATAT ATATATTTTATATATATATATTATATATATATTTTATATATATATTTTAT ATATATATATTATATATATATATTTTATATTATATATATTATATATATAT ATTTTATATATATATATTATATATATATATTTTATATATATATATTATAT ATATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(297): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATATAAAATATATATATAAAATATATATAT AATATATATATATAAAATATATATATAAATATATATATATAATATATATA TAAAATATATATATATATTATATATATATATAAAATATATATAAAATATA TATATAATATATATATAAAATATATATATAATATATATATAATATATATA TATAA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19060.hp1 NA19082.hp1 NA18982.hp2 NA19060.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	3	242	0.0124	304	c.67- others(317): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTATA TATATATTTTATATATATATATTATATATATATTTTATATATATATTTTA TATATATATATTATATATATATATTTTATATATATATATTATATATATAT ATTTTATATATATATATTATATATATATATTTTATATATATATATTATAT ATATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RNASE10_chr14_20500537_20518884	20506780	C C	CGCCCGGC others(297): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC TCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGATCAGCCCCCCTCCTGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03195.hp1 NA18522.hp1 HG02976.hp1 HG03195.hp1 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0026 a0003c0003t0026	a0003c0003t0026g0017 a0003c0003t0026g0017	3	273	0.0110	304	c.-6+ others(317): Show c.-6+799_-6+800insGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGATCAGCCCCCCTCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAG CCCCCCTCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGG	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF17_chr13_24759169_24884921	24882023	T T	TATAGATA others(297): Show TATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACA TCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	404	0.0025	304	c.22 others(315): Show c.2297_*2298insATAGATATATAGATACATCTAGATATATAGATAC ATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAG ATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2103		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882023	T T	TATAGATA others(297): Show TATAGATATATAGATACATCTATATAGATATATAGATACATCTAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACA TCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	404	0.0025	304	c.22 others(315): Show c.2297_*2298insATAGATATATAGATACATCTATATAGATATATAG ATACATCTAGATATATAGATACATCTAGATAGATATATAGATACATCTAG ATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2103		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882089	T T	TATAGATA others(297): Show TATAGATACATAGATACATCTATATAGATACATAGATACATCTATATAGA TACATAGATACATCTATATAGATACATAGATACATCTATATAGATACATA GATACATCTATATAGATACATAGATACATCTATATAGATACATAGATACA TCTATATAGATACATAGATACATCTATATAGATACATAGATACATCTATA TAGATACATAGATACATCTATATAGATACATAGATACATCTATATAGATA TATAGATACATCTATATAGATAGATACATCTATATAGATAGATACATCTA TATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0316 a0001c0002t0001g0316	1	189	0.0053	304	c.23 others(315): Show c.2363_*2364insATAGATACATAGATACATCTATATAGATACATAG ATACATCTATATAGATACATAGATACATCTATATAGATACATAGATACAT CTATATAGATACATAGATACATCTATATAGATACATAGATACATCTATAT AGATACATAGATACATCTATATAGATACATAGATACATCTATATAGATAC ATAGATACATCTATATAGATACATAGATACATCTATATAGATACATAGAT ACATCTATATAGATATATAGATACATCTATATAGATAGATACATCTATAT AGATAGATACATCTATATAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2169		chr13	TogoVar
RNF213_chr17_80255852_80403794	80355673	G G	GAGGAAGA others(297): Show GAGGAAGAAGCGACGAAGAAGTGGGGTGACCGGGAATGGGGGCTCACAGG GGAAGAAGTGGGGTGAACAGGATTGGGGGCTTATGGAGGAAGAAGCGGGG TGAACGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATG GGGGCTTACGGAGGAAGAAGCGGGGTGACCGGGAATGGGAGCTTACAGGG GAAGAAGCGGGGTGAATGGGAATGGGGGCTCACGGAGGAAGAAGCGGGGT GGATGGGAATCGGGGCTCACGGAGGAAGAGGGGTGACCGGGAATGGGGGC TCACA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0022 a0003c0005t0022	a0003c0005t0022g0133 a0003c0005t0022g0133	1	283	0.0035	304	c.108 others(325): Show c.10862+1097_10862+1098insAGGAAGAAGCGACGAAGAAGTGGG GTGACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGTGAACAGGATTG GGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGG GGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACGGAGGAAGAAGCGGGG TGACCGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGG GGGCTCACGGAGGAAGAAGCGGGGTGGATGGGAATCGGGGCTCACGGAGG AAGAGGGGTGACCGGGAATGGGGGCTCACA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RPH3AL_chr17_207389_357807	317207	C C	CCACCTCC others(297): Show CCACCTCCACTGACGTGTAGTCCCTGTGCCCCACCTCCATTGACCTTTAG TCCCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTACTCCACCTCCAT TGACCTGCAGTGCCTGTGCTCCACCTCCATTGACCTGCAGTCCCTGTGCC CCACCTCCATTGACCTGTAGTCTCTCTGTCCCACCTCCATTGACCTTTAG TCCATGTGCCCCACCTCCATTGACCTGAAGTCCCTGTGCCCCCACCTCCA TTGACCTGTAGTCCCTGTGGCCCCACGTCCATTGACTTGTAGTCTCTGTG CTCCA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02165.hp1 HG02698.hp2 others(2): Show HG01515.hp1 HG02165.hp1 HG02698.hp2 HG02738.hp2 NA18612.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0001c0001t0020 a0001c0001t0037 others(2): Show a0001c0001t0003 a0001c0001t0020 a0001c0001t0037 a0003c0005t0005 a0003c0005t0023	a0001c0001t0003g0034 a0001c0001t0020g0127 a0001c0001t0037g0058 others(2): Show a0001c0001t0003g0034 a0001c0001t0020g0127 a0001c0001t0037g0058 a0003c0005t0005g0035 a0003c0005t0023g0125	5	110	0.0455	304	c.351 others(321): Show c.351+2212_351+2213insTGGAGCACAGAGACTACAAGTCAATGGA CGTGGGGCCACAGGGACTACAGGTCAATGGAGGTGGGGGCACAGGGACTT CAGGTCAATGGAGGTGGGGCACATGGACTAAAGGTCAATGGAGGTGGGAC AGAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTGCAGGTCAATG GAGGTGGAGCACAGGCACTGCAGGTCAATGGAGGTGGAGTACAGGGACTA CAGGTCAATGGAGGTGGAGCACAGGGACTAAAGGTCAATGGAGGTGGGGC ACAGGGACTACACGTCAGTGGAGGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPS6KA5_chr14_90842861_91065641	90910531	G G	GAAAAAGT others(297): Show GAAAAAGTAAACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0223 a0001c0001t0223	a0001c0001t0223g0211 a0001c0001t0223g0211	1	298	0.0034	304	c.807 others(321): Show c.807-4233_807-4232insTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGGTTTACTTTTT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	7/16			chr14	TogoVar
RPTOR_chr17_80539838_80971368	80963809	C C	CGTCCCCT others(297): Show CGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTC CCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCT GTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCGCTGTGCGGCCGAGTCCTC ACCCT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0097 a0001c0097	a0001c0097t0001 a0001c0097t0001	a0001c0097t0001g0155 a0001c0097t0001g0155	1	170	0.0059	304	c.394 others(321): Show c.3940-449_3940-448insCCTGTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCT CACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACC CCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGT CCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCGC TGTGCGGCCGAGTCCTCACCCTGTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSU1_chr10_16585611_16822424	16748873	T T	TCCCAGAG others(297): Show TCCCAGAGCTCTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAG GCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGG GGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGG CGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGG TTTCACCGTGTTAGCCAGGAGGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	177	0.0056	304	c.598 others(321): Show c.598+3665_598+3666insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCCTCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGA GGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGA GCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTC TCAAAAAAAAAAAAAAGAGCTCTGGG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(297): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAG GGGGAGGGGGAGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGG GAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAA GGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGA AGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAG GAGAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0279 a0001c0002t0004g0279	1	2	0.5000	304	c.807 others(321): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTCCTCCTCCTCCT TCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCTC CCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCC CTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(297): Show GGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAG GGGGAGGGGGAGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGG GAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAA GGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGA AGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAG GAGAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0276 a0001c0002t0004g0276	1	2	0.5000	304	c.807 others(321): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTCCTCCTCCTCCT TCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCTC CCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCC CTCCTCCTCCCTCCCCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(297): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCC CGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCC CGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCG CGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0230 a0001c0003t0002g0230	1	219	0.0046	304	c.-58 others(311): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGC GCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACC CCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCG CCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(297): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCC CGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCC CGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCG CGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0226 a0001c0003t0002g0226	1	219	0.0046	304	c.-58 others(311): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGC GCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGC GCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACC CCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCG CCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(297): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp2 NA19043.hp2 HG02630.hp1 HG03195.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0112 a0001c0001t0001g0126 a0001c0001t0001g0134	3	150	0.0200	304	c.899 others(319): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(297): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	148	0.0068	304	c.899 others(319): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATATATA others(297): Show TATATATAATATATATTTATATTATATATAATATATATTATATATAATAT ATAATATATATTATATATAATATATATTATATATAATATATAATATATAT TTATATATAATATATATAATATATTATATATAATATATAAATATATATAT ATTATATATAATATATATTTATATATAATATATAAATATAATTATATATT ATATATAATATATAAATATATATTATATATTATATATAATTATATTTATA TATTATATATAATATATAAATATATATTATATATATTTAATATATATTTT ATATA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19087.hp1 NA19011.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0035 a0001c0002t0001g0011 a0001c0001t0002g0035 a0001c0002t0001g0011	2	30	0.0667	304	c.193 others(323): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATATTTATATATTATATATAATATATAAATATAATTATATATAA TATATAATATATATTTATATATTATATATAATATATAATTATATTTATAT ATTATATATAAATATATATTATATATAATATATATATATTTATATATTAT ATATAATATATTATATATATTATATATAAATATATATTATATATTATATA TAATATATATTATATATAATATATATTATATATTATATATAATATATATT ATATATAATATAAATATATATTATATAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SARDH_chr9_133658560_133743352	133669212	C C	CTCCCTCT others(297): Show CTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCC TCCCTCTCTCTCTCCTTCCCTCCTCCCTTACCCTCCCTCTCCCTCACCTT CCCTCTCCCTCACCTCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCC TCCCTCTCCCCCTCATCCTCCCTCACCCTCCCTCTCCTCACCTTCCCTCT CCCTCACCTTCCCTCTCCTTACCCTCCATCTCCCTCACCCTCCCTCTCCC CTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTTACCCTCCCTCTCCCT CACCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0002 a0003c0013t0002	a0003c0013t0002g0052 a0003c0013t0002g0052	1	218	0.0046	304	c.249 others(323): Show c.2495+1371_2495+1372insAGGTGAGGGAGAGGGAGGGTAAGGGA GAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAG ATGGAGGGTAAGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGAGAGGG AGGGTGAGGGAGGATGAGGGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGT GAGGGAGATGGAGGAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGT AAGGGAGGAGGGAAGGAGAGAGAGAGGGAGGGTGAGGGAGAGGGAGGGTG AGGGAGAGGGAGGGTAAGGGGAGAGGGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SATL1_chrX_85087284_85248779	85088071	C C	CGTATTAA others(297): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACGTATTAATACATATATGTATAAATACATACATATTTATACATATATG TATACATACATATTTATACATATATATGTATAAATACGTACATATTTATA CATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATA CGTACATATTTATACATATATATGTATAAATACGTACATATTTATACATA TATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTA CATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0062 a0003c0004t0001g0062	1	204	0.0049	304	c.43 others(315): Show c.4319_*4320insATATGTACGTATTTATACATATATATGTATAAAT ATGTACGTATTTATACATATATATGTATAAATATGTACGTATTTATACAT ATATATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGT ACGTATTTATACATATATATGTATAAATATGTACGTATTTATACATATAT ATGTATAAATATGTATGTATACATATATGTATAAATATGTATGTATTTAT ACATATATGTATTAATACGTATTTATACATATATGTATTAATACGTATTT ATACATATATGTATTAATAC	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4212		chrX	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(297): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAA CTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTAGACA GGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACAATCATGGCTC ACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCCTCC AAGGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp1 HG02723.hp2 others(5): Show HG01884.hp2 HG02622.hp1 HG02723.hp2 HG02809.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0003 a0003c0005 others(1): Show a0002c0002 a0003c0003 a0003c0005 a0006c0007	a0002c0002t0002 a0003c0003t0006 a0003c0003t0026 others(2): Show a0002c0002t0002 a0003c0003t0006 a0003c0003t0026 a0003c0005t0003 a0006c0007t0006	a0002c0002t0002g0139 a0003c0003t0006g0070 a0003c0003t0006g0086 others(4): Show a0002c0002t0002g0139 a0003c0003t0006g0070 a0003c0003t0006g0086 a0003c0003t0006g0094 a0003c0003t0026g0099 a0003c0005t0003g0300 a0006c0007t0006g0022	8	186	0.0430	304	c.678 others(319): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA GAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAATAA ATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTAGGC TGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTGGGC TCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(297): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAACT GTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTAGACA GGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACAATCATGGCTC ACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCCTCC AAGGT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18984.hp2 NA19065.hp1 others(1): Show NA18945.hp1 NA18984.hp2 NA19065.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0025 a0002c0002t0004g0126 a0002c0002t0004g0131 a0002c0002t0004g0025 a0002c0002t0004g0126 a0002c0002t0004g0131	4	182	0.0220	304	c.678 others(319): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAAT AAATAATTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTAGGC TGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTGGGC TCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCG5_chr15_32636710_32702092	32662486	T T	TGCTTTTC others(297): Show TGCTTTTCTTTTTCTTTTTCTTTTTCTTTCTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTT AGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG01981.hp2 others(18): Show HG00408.hp1 HG00558.hp2 HG01981.hp2 HG04115.hp2 HG04199.hp2 NA18943.hp1 NA18946.hp2 NA18949.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18993.hp1 NA18994.hp1 NA19000.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19066.hp1 NA19083.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0100 a0001c0001t0001g0102 others(17): Show a0001c0001t0001g0016 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0184 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0344 a0001c0001t0001g0347 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0356	21	388	0.0541	304	c.227 others(323): Show c.227-17271_227-17270insTTTCTTTTTCTTTTTCTTTCTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAGCTTTTCTT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCNN1D_chr1_1275436_1297025	1288493	T T	TCCCCCGT others(297): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0103 a0007c0006t0001g0103	1	256	0.0039	304	c.166 others(321): Show c.1662+459_1662+460insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3708386	C C	CTCCAAGG others(297): Show CTCCAAGGTCCAGTTACCTCCCACCAGGCCCTGCATACCTCCAAGGTCCA GTTACCTCCCACCAGGCCCTCCATACTTCCAAGGTCCAGTTACCTCCCAC CAGGCCCTCCATACCTCCAAGGTCCAGTTACCTCCCACCAGGCCCTCCAT ACCTCCAAGGTCCAGTTACCTCCCACCAGGCCCTCCATACCTCCAAGGTC CAGTTACCTCCCACCAGGCCCTCCATACCTCCAAGGTCCAGTTACCTCCC ACCAGGCCCTCCATACGTCCAAGGTCCAGTTACCTCCCACCAGGCCCTCC ATACG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0027 a0027	a0027c0089 a0027c0089	a0027c0089t0047 a0027c0089t0047	a0027c0089t0047g0056 a0027c0089t0047g0056	1	116	0.0086	304	c.713 others(323): Show c.713+66312_713+66313insGCATACCTCCAAGGTCCAGTTACCTC CCACCAGGCCCTCCATACTTCCAAGGTCCAGTTACCTCCCACCAGGCCCT CCATACCTCCAAGGTCCAGTTACCTCCCACCAGGCCCTCCATACCTCCAA GGTCCAGTTACCTCCCACCAGGCCCTCCATACCTCCAAGGTCCAGTTACC TCCCACCAGGCCCTCCATACCTCCAAGGTCCAGTTACCTCCCACCAGGCC CTCCATACGTCCAAGGTCCAGTTACCTCCCACCAGGCCCTCCATACGTCC AAGGTCCAGTTACCTCCCACCAGGCCCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80863884	T T	TATGTATG others(297): Show TATGTATGTGATATGTGATATATATATCACATATCACATACATATGTATC ACATACATATGTATCACATACATATGTATCACATACATATGTATCACATA CATATGTATCACATACATATGTATCACATACATATGTATCACATACATAT GTATCACATACATATGTATCACATACATATGTATCACATACATATGTATC ACATACATATGTATCACATACATATGTATCACATACATATGTATCACATA CATATGTATCACATACATATGTATCACATACATATGTATCACATACATAT CACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA19043.hp1 HG01255.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0030 a0001c0002t0001g0069 a0001c0001t0001g0030 a0001c0002t0001g0069	2	222	0.0090	304	c.104 others(323): Show c.104-35140_104-35139insGTGTGATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACA TATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATATG TGATATATATATCACATATCACATACAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80863886	T T	TGTATGTG others(297): Show TGTATGTGATATGTGATATATATATCACATATCACATACATATGTATCAC ATACATATGTATCACATACATATGTATCACATACATATGTATCACATACA TATGTATCACATACATATGTATCACATACATATGTATCACATACATATGT ATCACATACATATGTATCACATACATATGTATCACATACATATGTATCAC ATACATATGTATCACATACATATGTATCACATACATATGTATCACATACA TATGTATCACATACATATGTATCACATACATATGTATCACATACATATCA CACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0003 a0004c0021t0003	a0004c0021t0003g0049 a0004c0021t0003g0049	1	237	0.0042	304	c.104 others(323): Show c.104-35142_104-35141insGTGTGTGATATGTATGTGATACATAT GTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATG TGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATA CATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATAT GTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATG TGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATA TGTGATATATATATCACATATCACATAC	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	84990753	T T	TTTGAGTG others(297): Show TTTGAGTGAGTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG06807.hp2 HG02886.hp1 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0134 a0002c0002t0015g0135 a0002c0002t0015g0134 a0002c0002t0015g0135	2	260	0.0077	304	c.86 others(315): Show c.8686_*8687insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAGAAACTCACTCAA	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding		4799		chr7	TogoVar
SEMA3D_chr7_84990553_85192056	84990753	T T	TTTGAGTG others(297): Show TTTGAGTGAGTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG03041.hp2 others(1): Show HG01884.hp1 HG02572.hp1 HG03041.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0017 a0002c0002t0015 a0002c0002t0017	a0002c0002t0015g0114 a0002c0002t0017g0219 a0002c0002t0017g0220 others(1): Show a0002c0002t0015g0114 a0002c0002t0017g0219 a0002c0002t0017g0220 a0002c0002t0017g0221	4	262	0.0153	304	c.86 others(315): Show c.8686_*8687insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAGAAACTCACTCAA	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding		4799		chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGCGA others(297): Show GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGA GGGGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02738.hp2 NA19011.hp1 HG01934.hp2 HG02738.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0003t0019 a0001c0001t0001 a0001c0001t0005 a0001c0003t0019	a0001c0001t0001g0259 a0001c0001t0005g0268 a0001c0003t0019g0279 a0001c0001t0001g0259 a0001c0001t0005g0268 a0001c0003t0019g0279	3	42	0.0714	304	c.-30 others(323): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCGCTCCCCTCCCCTCGCTCGCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEPTIN6_chrX_119611945_119698168	119647958	T T	TTAATTTT others(297): Show TTAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp2 HG02897.hp1 others(1): Show HG02622.hp1 HG02818.hp2 HG02897.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0151 a0001c0001t0001g0199 others(1): Show a0001c0001t0001g0078 a0001c0001t0001g0151 a0001c0001t0001g0199 a0001c0001t0001g0216	4	226	0.0177	304	c.690 others(321): Show c.690+1978_690+1979insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAATTA	SEPTIN6	ENSG00000125354.24	transcript	ENST00000394610.7	protein_coding	5/10			chrX	TogoVar
SERINC3_chr20_44492441_44527070	44525364	T T	TTTTTTTT others(297): Show TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	298	0.0034	304	c.-34 others(315): Show c.-3414_-3413insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	SERINC3	ENSG00000132824.14	transcript	ENST00000342374.5	protein_coding		3295		chr20	TogoVar
SGPL1_chr10_70810948_70886184	70845656	T T	TTACCTTC others(297): Show TTACCTTCTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGTTGCCCA GGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGG CACGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0224 a0002c0004t0004g0224	1	377	0.0027	304	c.193 others(321): Show c.193+1027_193+1028insTTTTTTTTTTTTTTGAGACGGAGTTTCG CTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGC TGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCTACCTTCTT	SGPL1	ENSG00000166224.18	transcript	ENST00000373202.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
SIGLEC5_chr19_51605960_51635401	51632164	C C	CAAAGACT others(297): Show CAAAGACTCTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG03139.hp1 others(3): Show HG01891.hp2 HG02486.hp1 HG03139.hp1 NA18906.hp1 NA19240.hp2 NA20129.hp1	a0002 a0004 a0010 a0002 a0004 a0010	a0002c0001 a0004c0009 a0010c0020 a0002c0001 a0004c0009 a0010c0020	a0002c0001t0001 a0004c0009t0001 a0010c0020t0001 a0002c0001t0001 a0004c0009t0001 a0010c0020t0001	a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0121 others(3): Show a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0121 a0002c0001t0001g0122 a0004c0009t0001g0029 a0010c0020t0001g0040	6	409	0.0147	304	c.-18 others(315): Show c.-1830_-1829insTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGAAGAGAGTCTTT	SIGLEC5	ENSG00000268500.7	transcript	ENST00000683636.1	protein_coding		1764		chr19	TogoVar

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