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
OLFM1_chr9_135082668_135126180	135091591	T T	TCACACAG others(349): Show TCACACAGTCACACATAGTCACACAGTCACACACACTCACATAGTCACAC ACACAGTCACACACAGTCACACACACTCACACAGTCACACACACTCACAC AGTCACACACACATTCACACATAGTCACACACACACAGTCACACACACTC ACACACAGTCTCACACACACATAGTCACACACAGTCACACTCACAGTCAC ACACTCATAGTCACACCCACACATAGTCACACACACTCACACAGTCACAC ACACACAGTCACACAGTCACACACTCACATAGTCACACACACTCACAGTC ACTCACAGTCACACACACACTCACACATAGTCACACACACACTCACACAC AGTCACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0327 a0001c0001t0017g0327	1	360	0.0028	356	c.300 others(373): Show c.300+1253_300+1254insGTCACACATAGTCACACAGTCACACACA CTCACATAGTCACACACACAGTCACACACAGTCACACACACTCACACAGT CACACACACTCACACAGTCACACACACATTCACACATAGTCACACACACA CAGTCACACACACTCACACACAGTCTCACACACACATAGTCACACACAGT CACACTCACAGTCACACACTCATAGTCACACCCACACATAGTCACACACA CTCACACAGTCACACACACACAGTCACACAGTCACACACTCACATAGTCA CACACACTCACAGTCACTCACAGTCACACACACACTCACACATAGTCACA CACACACTCACACACAGTCACACACACA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(349): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTC CCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	438	0.0023	356	c.-29 others(371): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATAATAA TAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(349): Show ACTGAATGTACATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTC CCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	438	0.0023	356	c.-29 others(371): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAA TAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(349): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGG GCTGACC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG01175.hp2 others(12): Show HG00738.hp1 HG01109.hp2 HG01175.hp2 HG01361.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02735.hp1 HG03098.hp2 HG03195.hp1 HG03471.hp2 HG03704.hp1 NA19030.hp1 NA19043.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0011 a0001c0001t0001g0066 a0001c0001t0001g0067 others(12): Show a0001c0001t0001g0011 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0177 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0121 a0001c0001t0004g0136	15	186	0.0807	356	c.242 others(373): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCCACCTCCCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
P2RY8_chrX_1457581_1542185	1490652	A A	AGGGAATG others(349): Show AGGGAATGAATGAATGATACCCCAGATTCACTTCTGCAAATGTAGAGAGA ATGAATGAATGATACCCAGATATTCCCCACAAATGTGGGGGGAATGAATG AATGATACCCCAGATTCACTTCTGCAAACGTAGAGAGAATGAATGAATGA TACCCAGATATTCCCTGCAAATGTGGGGGGAATGAATGAATGATACCCCA GATTCACTTCTGCAAATGTAGAGAGAATGAATGAATGATACCCAGATATT CCCTGCAAATGTGGGGGGAATGAATGAATGAATGATACCCCAGATTCACT TCTGCAAATGTAGAGAGAATGAATGAATGATACCCAGATATTCCCCACAA ATGTGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00558.hp1 others(25): Show HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00639.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01346.hp2 HG01975.hp2 HG02015.hp1 HG02071.hp1 HG02273.hp2 HG02451.hp1 HG02622.hp2 HG03195.hp1 HG03195.hp2 HG03491.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA18960.hp1 NA18973.hp2 NA18984.hp1 NA18994.hp1 NA19068.hp1 NA19086.hp1 NA20129.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0006c0008 a0009c0011	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(13): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0003t0001 a0001c0003t0003 a0001c0004t0010 a0001c0004t0020 a0002c0002t0004 a0006c0008t0005 a0009c0011t0018	a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0056 others(25): Show a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0006g0029 a0001c0001t0008g0020 a0001c0001t0008g0061 a0001c0001t0014g0052 a0001c0001t0023g0059 a0001c0001t0024g0070 a0001c0001t0026g0044 a0001c0001t0028g0089 a0001c0001t0029g0054 a0001c0003t0001g0048 a0001c0003t0003g0041 a0001c0004t0010g0111 a0001c0004t0020g0017 a0002c0002t0004g0024 a0006c0008t0005g0051 a0009c0011t0018g0085	28	114	0.2456	356	c.-24 others(375): Show c.-24-24426_-24-24071dupCCCACATTTGTGGGGAATATCTGGGT ATCATTCATTCATTCTCTCTACATTTGCAGAAGTGAATCTGGGGTATCAT TCATTCATTCATTCCCCCCACATTTGCAGGGAATATCTGGGTATCATTCA TTCATTCTCTCTACATTTGCAGAAGTGAATCTGGGGTATCATTCATTCAT TCCCCCCACATTTGCAGGGAATATCTGGGTATCATTCATTCATTCTCTCT ACGTTTGCAGAAGTGAATCTGGGGTATCATTCATTCATTCCCCCCACATT TGTGGGGAATATCTGGGTATCATTCATTCATTCTCTCTACATTTGCAGAA GTGAATCTGGGGTATCATTCATTCATTCCC	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PATL1_chr11_59631716_59674037	59636010	T T	TAAAAATT others(349): Show TAAAAATTACCCAGGTGTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCACGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	276	0.0036	356	c.23 others(367): Show c.2379_*2380insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCGTGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCACACCTGGGTAATTTTT	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		705		chr11	TogoVar
PCDHGA1_chr5_141325514_141517975	141333382	T T	TAGAAACG others(349): Show TAGAAACGGCGATCTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0215 a0001c0007t0007g0215	1	268	0.0037	356	c.242 others(373): Show c.2421+293_2421+294insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGAAACGGCGATCTAG	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(349): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	436	0.0023	356	c.-26 others(367): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATATGTCTATCTATAGATAGA TACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(349): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	356	c.-26 others(367): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PDCD10_chr3_167678298_167739892	167684952	A A	AAAAATAT others(349): Show AAAAATATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18973.hp1 NA18966.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0098 a0001c0001t0004g0071 a0001c0001t0004g0098	2	284	0.0070	356	c.558 others(371): Show c.558-564_558-563insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGAATATATTTT	PDCD10	ENSG00000114209.15	transcript	ENST00000392750.7	protein_coding	8/8			chr3	TogoVar
PDE11A_chr2_177618244_178077777	177946685	G G	GGGGGGGT others(349): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCTGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAAGGAGGTGGGGGGGGTCAGCCCCCCCCGCC TGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGA GGGAGGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02615.hp2 HG02257.hp2 HG02559.hp1 HG02615.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0026 a0001c0005t0026 a0002c0002t0012 a0001c0001t0026 a0001c0005t0026 a0002c0002t0012	a0001c0001t0026g0067 a0001c0005t0026g0019 a0002c0002t0012g0144 a0001c0001t0026g0067 a0001c0005t0026g0019 a0002c0002t0012g0144	3	170	0.0177	356	c.107 others(377): Show c.1072-41499_1072-41498insACCTCCCTCCTGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGGGCTGACC CCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCAGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PEX10_chr1_2398974_2417564	2401351	T T	TCCTCCCT others(349): Show TCCTCCCTCCTCCTCCCTTCTTCCTCCCTCCTCCCTCCCTCCTCCCTCCC TCCTCCTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCC TTCTTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTGCTTCCTCCT CCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCCTCCTCCCTCCCCCCTCCT CCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCT CCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTC CTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0031 a0004c0008t0031	a0004c0008t0031g0049 a0004c0008t0031g0049	1	358	0.0028	356	c.44 others(367): Show c.4414_*4415insGAGGAAGGAGGGAGGAGGAGGGAGGAAGGAGGGA GGAAGGAGGAGGGAGGAAGGAGGAGGGAGGGAGGAGGAGGGAGGAAGGAG GGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGGGGAGG AGGGAGGAGGGGGAGGAGGGAGGAGGAGGAAGCAGGGAGGAGGAGGGAGG AAGAAGGGAGGAGGGAGGAAGAAGGGAGGAGGGAGGAAGAAGGGAGGAGG GAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAG GGAGGAGGAAGGAGGGAGGAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAG GAAGAAGGGAGGAGGAGGGAGG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2622		chr1	TogoVar
PIMREG_chr17_6439455_6456469	6455713	G G	GGGGGAAG others(349): Show GGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGG GAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGA GGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGG GGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAG GGGAGGGGGAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGG AGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGG GATGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	312	0.0032	356	c.53 others(367): Show c.5366_*5367insGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGG GGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGG GAAGGGGGAAGAGGGGATGGGA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4245		chr17	TogoVar
PKD1L1_chr7_47769614_47953466	47793047	T T	TAAAAAAA others(349): Show TAAAAAAAAAACTATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC AAAACAA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0005 a0005	a0005c0002 a0005c0002	a0005c0002t0001 a0005c0002t0001	a0005c0002t0001g0044 a0005c0002t0001g0044	1	306	0.0033	356	c.835 others(373): Show c.8356-251_8356-250insTTGTTTTGTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCAATAGTTTTTTTTTT	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	55/56			chr7	TogoVar
PKD2L1_chr10_100283149_100335228	100314979	G G	GGGAAGGG others(349): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGAAGG AAGGGAAGGGAAGGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAGGAAGGGAAGGAAGGGAAGGGAAGGG AAGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGAGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0109 a0005c0006t0001g0109	1	306	0.0033	356	c.349 others(375): Show c.349+14231_349+14232insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCTCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCTT CCCTTCCTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCTTCCCTTCCCTTCCCTTCCCTTCCTTCCTTCCCTTCCCTTC CCTTCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKP3_chr11_389209_409908	398341	C C	CCGTCACC others(349): Show CCGTCACCTCCGTACCCCCACATATACCTCATCACCTCCGTACACCCGCA CATACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACC TCCGTACCCCCGCACACACCTGTGTCACCTCCCTACTGTCACCTCCCTAC CCCCACATATACCTCATCACCTCCGTACACCCGCACATACCTGCGTCACC TCCCTACCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCAC ACACCTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	216	0.0046	356	c.106 others(373): Show c.1069-633_1069-632insACATATACCTCATCACCTCCGTACACCC GCACATACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCG TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACATATACCTCATC ACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCTACTGTCACCTCCC TACCCCCACATATACCTCATCACCTCCGTACACCCGCACATACCTGCGTC ACCTCCCTACCCCCACATATACCTCATCACCTCCGTACCCCCGCACACAC CTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCG CACACACCTGCGTCACCTCCGTACCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCB1_chr20_8127266_8889900	8661960	T T	TAATTATT others(349): Show TAATTATTTATTATATAATTATATATAATTATATAATTATTTATTATATA ATTATATATAATTATATAATTATTTATTATATAATTATATATAATTATAT AATTATTTATTATATAATTATATATAATTATATAATTATTTATTATATAA TTATATATAATATACAATTATTTATTATATAATTATATATAATATACAAT TATTTATTATATAATTATATATAATATACAATTATTTATTATATAATTAT ATATAATATACAATTATTTATTATATAATTATATATAATATACAATTATT TATTATATAATTATATATAATATACAATTATTTATTATATAATTATATAT AATATAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp1 HG01081.hp2 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0076 a0001c0002t0001g0077	2	106	0.0189	356	c.862 others(373): Show c.862+3317_862+3318insTATATAATTATTTATTATATAATTATAT ATAATTATATAATTATTTATTATATAATTATATATAATTATATAATTATT TATTATATAATTATATATAATATACAATTATTTATTATATAATTATATAT AATATACAATTATTTATTATATAATTATATATAATATACAATTATTTATT ATATAATTATATATAATATACAATTATTTATTATATAATTATATATAATA TACAATTATTTATTATATAATTATATATAATATACAATTATTTATTATAT AATTATATATAATATACAATTATTTATTATATAATTATATATAATTATAT AATTATTTATTATATAATTATATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(349): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACT GAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCC CGGCCAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	294	0.0034	356	c.550 others(373): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(349): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACT GAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCC TGGCCAC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	294	0.0034	356	c.550 others(373): Show c.550-7422_550-7421insGTGGCCAGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(349): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATAATATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATAATATAT TATATATAATATATTATATATATTATATATAATATATTATATATATTATA TTATATATAATATATTATATATATTATATATAATATATTATATATATTAT ATTATATATAATATATTATATATATTATATTATATATAATATATTATATA TATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	286	0.0035	356	c.-50 others(367): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATATATAATATATTATATATAATATAATATATATAATATATTATATATA ATATATATAATATATTATATATAATATATTATATATAATATATTATATAT AATATAATATATATAATATATTATATATAATATATTATATATAATATATT ATATATAATATAATATATATAAATATATTTTTATATATAATAATTATATT ATATATAATATATTTTTATATAAATATATATTATATATTTTTATATAAAT ATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PPARGC1B_chr5_149725310_149860022	149809297	G G	GATAGATA others(349): Show GATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAG ATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGA TAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGATAGAT AGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGATAGATA GATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATAGATCC ATCTCTACCATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACC ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATCGATCCAT CTCTACC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0027 a0005c0011t0027	a0005c0011t0027g0133 a0005c0011t0027g0133	1	320	0.0031	356	c.79- others(373): Show c.79-11106_79-11105insCCATCTCTACCATAGATAGATAGATAGA TAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATAGAT AGATAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATA GATAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGATAGATAG ATCCATCTCTACCATAGATAGATAGATAGATAGATAGATCCATCTCTACC ATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGA TAGATAGATAGATAGATAGATAGATAGATAGATCGATCCATCTCTACCAT AGATAGATAGATAGATAGATAGATAGAT	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP6R2_chr22_50338327_50450090	50397547	A A	AGGGGGGC others(349): Show AGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCAT CCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG CCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGA GCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	340	0.0029	356	c.227 others(373): Show c.227+3417_227+3418insGCCTGTCCTCACCAGCCCTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCC TCACCAGCCTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTT TCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCA GCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGG CGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCGGGGGGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397547	A A	AGGGGGGC others(349): Show AGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGCATGACTTGGGATGGGGGCGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCAC CAGCCTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02132.hp1 HG00597.hp1 HG02132.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0316 a0001c0003t0001g0319 a0001c0003t0001g0316 a0001c0003t0001g0319	2	340	0.0059	356	c.227 others(373): Show c.227+3417_227+3418insGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGCATGACTTGGG ATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCC CTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG GGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(349): Show AGTGTGACTTGGGATGCTGGGGGGCAGGGGGCCTGTCCTCACCAGCCCTG TCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTT CTCTGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0148 a0002c0004t0013g0148	1	340	0.0029	356	c.227 others(373): Show c.227+3604_227+3605insTGTGACTTGGGATGCTGGGGGGCAGGGG GCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGC CCTGTCATCTCTGAGTTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRPSAP2_chr17_18853131_18936287	18888563	A A	AGGCAGAG others(349): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCAGCTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCAG CTGGCCG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0349	1	392	0.0026	356	c.529 others(373): Show c.529-1190_529-1189insAGCTGGCCGGGCAGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGC AGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18888563	A A	AGGCAGAG others(349): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCAG CTGGCCG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	392	0.0026	356	c.529 others(373): Show c.529-1139_529-1138insAGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCA GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18888563	A A	AGGCAGAG others(349): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCA GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCAG CTGGCCG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0371 a0001c0001t0005g0371	1	392	0.0026	356	c.529 others(373): Show c.529-1127_529-1126insGGGGGGCTGACCCCCCCACCTCCCTCGC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCAGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18888563	A A	AGGCAGAG others(349): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCAG CTGGCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(99): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01070.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01934.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp2 HG03491.hp2 HG03654.hp2 HG03704.hp2 HG06807.hp2 NA18939.hp2 NA18944.hp1 NA18947.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19085.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0180 a0001c0001t0001g0198 a0001c0001t0001g0204 others(99): Show a0001c0001t0001g0180 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0261 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0386 a0001c0001t0001g0388 a0001c0001t0001g0391 a0001c0001t0002g0030 a0001c0001t0002g0111 a0001c0001t0005g0188 a0001c0001t0005g0360 a0001c0001t0005g0361 a0001c0001t0005g0362 a0001c0001t0005g0363 a0001c0001t0005g0364 a0001c0001t0005g0365 a0001c0001t0005g0366 a0001c0001t0005g0368 a0001c0001t0005g0369 a0001c0001t0005g0370 a0001c0001t0005g0372 a0001c0001t0005g0373 a0001c0001t0005g0374 a0001c0001t0005g0375 a0001c0001t0005g0376 a0001c0001t0005g0377 a0001c0001t0005g0378 a0001c0001t0005g0379 a0001c0001t0005g0387 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0002t0002g0136	102	392	0.2602	356	c.529 others(373): Show c.529-1127_529-1126insGGGGGGCTGACCCCCCCACCTCCCTCGC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCAGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18888563	A A	AGGCAGAG others(349): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCAG CTGGCCG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	392	0.0026	356	c.529 others(373): Show c.529-1127_529-1126insGGGGGGCTGACCCCCCCACCTCCCTCGC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCAGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18888563	A A	AGGCAGAG others(349): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGG CTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCAG CTGGCCG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp1 HG03579.hp2 HG02055.hp2 HG02886.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296	3	392	0.0077	356	c.529 others(373): Show c.529-1127_529-1126insGGGGGGCTGACCCCCCCACCTCCCTCGC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCAGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18888563	A A	AGGCAGAG others(349): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCAG CTGGCCG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03579.hp1 HG03471.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0202 a0001c0001t0001g0203	2	392	0.0051	356	c.529 others(373): Show c.529-1150_529-1149insTCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCG CGGACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGGCTGACCCCCCCCACCTCCCTC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18888563	A A	AGGCAGAG others(349): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGTGGGGGGCTGACCCCCCACCTCCCTCGCGGACGGGGCAG CTGGCCG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18949.hp2 NA18969.hp1 NA18947.hp1 NA18949.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268	3	392	0.0077	356	c.529 others(373): Show c.529-1159_529-1158insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCA CCTCCCTCGCGGACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGGCTGACCCCCCCC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18888563	A A	AGGCAGAG others(349): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCAG CTGGCCG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0390 a0001c0001t0001g0390	1	392	0.0026	356	c.529 others(373): Show c.529-1183_529-1182insTGGGCAGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCAGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18888598	C C	CCGGGCAG others(349): Show CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCGCGGACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	392	0.0026	356	c.529 others(373): Show c.529-1127_529-1126insGGGGGGCTGACCCCCCCACCTCCCTCGC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCAGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18888633	G G	AGCTGGCC others(349): Show AGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCGCGGACGGGGCAGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01943.hp1 HG02074.hp1 others(2): Show HG00558.hp1 HG01943.hp1 HG02074.hp1 HG02523.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 others(2): Show a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0331 a0001c0001t0001g0350	5	392	0.0128	356	c.529 others(373): Show c.529-1190_529-1189insAGCTGGCCGGGCAGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGC AGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11			chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18888663	C C	CACCTCCC others(349): Show CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGTGGGGGGCTGACCCCCCACCTCCCTCGCGGACGGGGCAG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGAC CCCCCCG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	392	0.0026	356	c.529 others(373): Show c.529-1127_529-1126insGGGGGGCTGACCCCCCCACCTCCCTCGC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG TGGGGGGCTGACCCCCCACCTCCCTCGCGGACGGGGCAGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCGACCT CCCTCCCGGACGGGGCGGCTGGCCGGGC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PTPN9_chr15_75458251_75584315	75481624	C C	CCCCACCC others(349): Show CCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGGTCAGCC CCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC TCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCAG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCAGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCCCAGCCAGCCGCCCCGTCT GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0113	1	326	0.0031	356	c.106 others(375): Show c.1063-1711_1063-1710insAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCTGG GCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTC ACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCTACCTC CCTCCCGGACGGGGCGGCTGGCCGGGTGGG	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
RBBP8_chr18_22928328_23031486	22995019	G G	GCCCAGCC others(349): Show GCCCAGCCTGCTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	330	0.0030	356	c.193 others(375): Show c.1939+1189_1939+1190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCCCAGCCTGCTATCTTT	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RER1_chr1_2386841_2410436	2401351	T T	TCCTCCCT others(349): Show TCCTCCCTCCTCCTCCCTTCTTCCTCCCTCCTCCCTCCCTCCTCCCTCCC TCCTCCTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCC TTCTTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCCTGCTTCCTCC TCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCCTCCT CCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCT CCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTC CTTCCTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	354	0.0028	356	c.365 others(371): Show c.365+433_365+434insTCTTCCTCCCTCCTCCCTCCCTCCTCCCTC CCTCCTCCTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCC TCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTC CCTTCTTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCCTGCTTCCT CCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCCTC CTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCC CTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCC TCCTTCCTCCCTCCCTCCTCCTCCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RER1_chr1_2386841_2410436	2401351	T T	TCCTCCCT others(349): Show TCCTCCCTCCTCCTCCCTTCTTCCTCCCTCCTCCCTCCCTCCTCCCTCCC TCCTCCTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCC TTCTTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTGCTTCCTCCT CCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCCTCCTCCCTCCCCCCTCCT CCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCT CCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTC CTTCCTC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0140 a0001c0001t0026g0140	1	354	0.0028	356	c.365 others(371): Show c.365+433_365+434insTCTTCCTCCCTCCTCCCTCCCTCCTCCCTC CCTCCTCCTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCC TCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTC CCTTCTTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTGCTTCCTC CTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCCTCCTCCCTCCCCCCTC CTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCC CTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCC TCCTTCCTCCCTCCCTCCTCCTCCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(349): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTGTATACATACGTATGTATGTGTATACA TACGTATGTATGTGTATACATACGTATGTATGTGTATACATACATACGTA TGTATGTGTATACATACATACGTATGTATGTGTATACATACGTATGTATG TGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	356	c.-23 others(367): Show c.-2310_-2309insGTATACACATACATACGTATGTATACACATACAT ACGTATGTATGTATACACATACATACGTATGTATGTATACACATACATAC GTATGTATACACATACATACGTATGTATACACATACATACGTATGTATAC ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACATACGTATGTATACACATACATACATACGTATGTATACACATACAT ACATACGTATGTATACACATACATACATACGTATGTATACACATACATAC ATACGTATGTATACACATACATACATACGTATGTATACACATACATATGT ATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(349): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATA CATATGTATGTATGTGTATACATACGTATGTATGTGTATACATACATACG TATGTATGTGTATACATACGTATGTATGTGTATACATACATACGTATGTA TGTGTACACATACGTATGTATGTGTACACATACATATGTATGTATGTGTA CACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	452	0.0022	356	c.-23 others(367): Show c.-2310_-2309insGTATGTGTACACATACATACATATGTATGTGTAC ACATACATACGTATGTGTACACATACATACGTATGTATGTATACACATAC ATACGTATGTATACACATACATACGTATGTATGTATACACATACATACGT ATGTATACACATACATACATATGTATGTATACACATACATACGTATGTAT ACACATACATACATACGTATGTATACACATACATACATACGTATGTATAC ACATACATACATACGTATGTATACACATACATACATATGTATGCATACAC ATACATATGTATGCATACACATACATATGTATGCATACACATACATATGT ATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(349): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATA CATATGTATGTATGTGTATACATACGTATGTATGTGTATACATACATATG TATGTATGTGTATACATACGTATGTATGTGTATACATACATACGTATGTA TGTGTACACATACGTATGTATGTGTACACATACATATGTATGTATGTGTA CACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	356	c.-23 others(367): Show c.-2310_-2309insGTATGTGTACACATACATACATATGTATGTGTAC ACATACATACGTATGTGTACACATACATACGTATGTATGTATACACATAC ATACGTATGTATACACATACATACATATGTATGTATACACATACATACGT ATGTATACACATACATACATATGTATGTATACACATACATACGTATGTAT ACACATACATACATACGTATGTATACACATACATACATACGTATGTATAC ACATACATACATACGTATGTATACACATACATACATATGTATGCATACAC ATACATATGTATGCATACACATACATATGTATGCATACACATACATATGT ATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(349): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACATATGTATGTATGTGTATGCATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATG TGTATACATACGTATGTATGTGTATACATACATACGTATGTATGTGTATA CATACGTATGTATGTGTATACATACATACGTATGTATGTGTACACATACG TATGTATGTGTATACATACATACGTATGTATGTGTACACATACGTATGTA TGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	356	c.-23 others(367): Show c.-2328_-2327insGTACACATACATACGTATGTGTACACATACATAC GTATGTATGTATACACATACATACGTATGTGTACACATACATACGTATGT ATGTATACACATACATACGTATGTATACACATACATACGTATGTATGTAT ACACATACATACGTATGTATACACATACATACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACATACGTATGTATACACATACATACATACGTATGCATACACATACAT ACATATGTATGCATACACATACATATGTATGCATACACATACATATGTAT GCATACACATACATATGTATGC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2103		chr3	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(349): Show CTATATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAG ATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATAT AGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATAC ATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	426	0.0024	356	c.22 others(367): Show c.2236_*2237insTATATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACA TCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGA TAGATATATAGATACATCTAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RPSA2_chr19_23758004_23833868	23798607	T T	TAAAAAAT others(349): Show TAAAAAATCCTACATACGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCC GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0351 a0001c0001t0025g0351	1	366	0.0027	356	c.-30 others(375): Show c.-302-9203_-302-9202insGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCCGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAATCCTACATAC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
RSBN1L_chr7_77691459_77788022	77730526	T T	TAAAAATC others(349): Show TAAAAATCCTTTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0228 a0001c0002t0001g0228	1	336	0.0030	356	c.587 others(373): Show c.587-5870_587-5869insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAATCCTTTGTG	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
RTN1_chr14_59590983_59875776	59750553	A A	ATATATCT others(349): Show ATATATCTATAATATATATATATCTATAATATATAATATATCTATAATAT ATAATATATCTATAATATATAATATATCTATAATATATATATTATAGATA TAATATATAATATATTATATCTATAATATATAATATATTATATATAATAT ATTATATCTATAATATATAATATATTATATATAATATATTATATATTATA TCTATAATATATAATATATTATATCTATAATATATTATATGTAATATATA TGTTATATCTATAATATATATTATATCTATAATATATAATATATTATATC TATAAATATAATATATTATATCTATAATATATAATATATTATATCTATAA TATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	172	0.0058	356	c.242 others(373): Show c.242-4073_242-4072insATATATATTATAGATATAATATATTATA TATTATAGATATAATATATTATATTTATAGATATAATATATTATATATTA TAGATATAATATATATTATAGATATAACATATATATTACATATAATATAT TATAGATATAATATATTATATATTATAGATATAATATATAATATATTATA TATAATATATTATATATTATAGATATAATATATTATATATAATATATTAT ATATTATAGATATAATATATTATATATTATATCTATAATATATATATTAT AGATATATTATATATTATAGATATATTATATATTATAGATATATTATATA TTATAGATATATATATATTATAGATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(349): Show GGAGGAGGAGGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGAG GGAGGGAGGGGGAGGGAGGGAGGAGGAGGGAGGGGGAGGAGGGAGGGGGA GGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGA AGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAG GAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAA GGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGG AGGAGAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp2 NA19009.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0259 a0001c0001t0001g0235 a0001c0001t0001g0259	2	396	0.0051	356	c.807 others(373): Show c.807-1376_807-1375insTTCTCCTCCTCCTCCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC TCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTC CCTCCTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCT CCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCT CCCTCCCCCTCCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(349): Show GGAGGAGGAGGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGAG GGAGGGAGGGGGAGGGAGGGAGGAGGAGGGAGGGGGAGGAGGGAGGGGGA GGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGAAGGGGGAGAAGGGGGAGA AGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAG GAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAA GGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGAAGGAGG AGGAGAA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	396	0.0025	356	c.807 others(373): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTTCC TCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTC CCTCCTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCT CCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCT CCCTCCCCCTCCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar

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