Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
PCED1A_chr20_2830314_2845655	2842892	A A	AGATGTAT others(181): Show AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	433	0.0023	188	c.-27 others(199): Show c.-2704_-2703insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2238		chr20	TogoVar
PER3_chr1_7779291_7850177	7803433	C C	CAAAAAAT others(181): Show CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03579.hp1 NA19030.hp2 HG02145.hp2 HG03579.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200	3	393	0.0076	188	c.980 others(203): Show c.980-254_980-253insATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PERM1_chr1_970198_987093	977316	G G	GCAACCCC others(181): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01106.hp2 HG02257.hp2 HG00099.hp1 HG01106.hp2 HG02257.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0014 a0006c0008t0001 a0001c0001t0001 a0001c0001t0014 a0006c0008t0001	a0001c0001t0001g0127 a0001c0001t0014g0179 a0006c0008t0001g0075 a0001c0001t0001g0127 a0001c0001t0014g0179 a0006c0008t0001g0075	3	325	0.0092	188	c.215 others(205): Show c.2150-693_2150-692insGTGGGGGGAGTGGGAGGCGGTTCCCGGG GTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCG GGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTT CCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977845	C C	CCACCAAC others(181): Show CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCG CCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG02040.hp2 others(6): Show HG00438.hp2 HG00609.hp2 HG02040.hp2 HG02083.hp1 NA18950.hp2 NA18961.hp2 NA18990.hp2 NA19059.hp2 NA19065.hp1	a0001 a0020 a0001 a0020	a0001c0001 a0020c0038 a0001c0001 a0020c0038	a0001c0001t0001 a0001c0001t0005 a0020c0038t0001 a0001c0001t0001 a0001c0001t0005 a0020c0038t0001	a0001c0001t0001g0024 a0001c0001t0001g0102 a0001c0001t0001g0103 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0005g0176 a0020c0038t0001g0172	9	230	0.0391	188	c.214 others(207): Show c.2149+1035_2149+1036insCGGGGGGAGTGGGAGGCGGTTCCCGG GGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGG GGGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PFKFB3_chr10_6197932_6240532	6206842	G G	GCAGCCAG others(181): Show GCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCA GAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA CATCCCAGACGATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACT GGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0267 a0001c0001t0005g0267	1	348	0.0029	188	c.76+ others(203): Show c.76+3506_76+3507insCAGCCAGGCAGAGGGGCTCCTCACATCCCA GACGATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGC CAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGAC ACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCC CAGACGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14			chr10	TogoVar
PIK3C2A_chr11_17081575_17212986	17193868	A A	AGGAGGGG others(181): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGGGAG	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	191	0.0052	188	c.-66 others(207): Show c.-66+13979_-66+13980insCTCCCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PJA2_chr5_109329722_109414974	109340619	C C	CCTCTCCC others(181): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03942.hp1 HG01256.hp2 HG03942.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0054 a0003c0003t0002g0105 a0003c0003t0002g0054 a0003c0003t0002g0105	2	164	0.0122	188	c.200 others(207): Show c.2002-3264_2002-3263insAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PKD2L1_chr10_100283149_100335228	100314975	G G	GGGAAGGG others(181): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0127 a0010c0013t0001g0127	1	277	0.0036	188	c.349 others(207): Show c.349+14235_349+14236insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100314983	G G	GGGAAGGG others(181): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	215	0.0047	188	c.349 others(207): Show c.349+14227_349+14228insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCCCCC others(181): Show GCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCC CTCTCCGGTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0048 a0003c0048	a0003c0048t0001 a0003c0048t0001	a0003c0048t0001g0047 a0003c0048t0001g0047	1	82	0.0122	188	c.575 others(209): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGG CTCTGTACCGGAGAGGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGG AGGGGGAGGGGGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PLEKHN1_chr1_961482_980865	964630	G G	GGGCGGGT others(181): Show GGGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGC AGTGGGGCTGTGGGAGGGGTCCGCGCGTCCGCAGTGGGGATGTGCTGCGG GGAGGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCG CGGGTCCGCAGTGGGGCTGTGCTGCGGGAAGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	208	0.0048	188	c.-19 others(199): Show c.-1902_-1901insGGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGG GGGGCGCGGGTCCGCAGTGGGGCTGTGGGAGGGGTCCGCGCGTCCGCAGT GGGGATGTGCTGCGGGGAGGGGGGGCGCGGGTCCGCAGTGGGGATGTGCT GCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGCTGTGCTGCGGGAAGGGGG GGGC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1851		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977316	G G	GCAACCCC others(181): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	337	0.0030	188	c.27 others(199): Show c.2741_*2742insCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCC CCAC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1452		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977845	C C	CCACCAAC others(181): Show CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCG CCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01175.hp2 HG02040.hp2 others(7): Show HG00597.hp2 HG01175.hp2 HG02040.hp2 HG02083.hp1 HG02148.hp2 NA18943.hp2 NA18961.hp1 NA19004.hp2 NA19067.hp1 NA19089.hp1	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0001 a0001c0007 a0003c0003 others(1): Show a0001c0001 a0001c0007 a0003c0003 a0015c0046	a0001c0001t0001 a0001c0007t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0007t0001 a0003c0003t0001 a0015c0046t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0023 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0056 a0001c0001t0001g0141 a0001c0007t0001g0001 a0003c0003t0001g0001 a0015c0046t0001g0001	10	237	0.0422	188	c.32 others(199): Show c.3270_*3271insCACCAACCCCGGGAACCGCCTCCCACTCCCCCCA CCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT GCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1981		chr1	TogoVar
PNPLA1_chr6_36265060_36318955	36275948	T T	TTTTCTTT others(181): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0016 a0016	a0016c0021 a0016c0021	a0016c0021t0006 a0016c0021t0006	a0016c0021t0006g0367 a0016c0021t0006g0367	1	366	0.0027	188	c.205 others(205): Show c.205+5311_205+5312insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA8_chr7_108465417_108531135	108490187	T T	TACAGGTT others(181): Show TACAGGTTTATAGCCTAGGAACTATAGGCTATACCATTTAGCCTACATGT GTAGTAGGCTATACCATCTAAGTATGTCTAAGTACACTCTATAACACAGG TTTATAGCCTAGGAACTATAGGCTATACCATTTAGCCTACATGTGTAGTA GGCTATACCATCTAAGTATGTCTAAGTACACTCTATAAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00738.hp2 others(47): Show HG00323.hp2 HG00642.hp2 HG00738.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG02056.hp1 HG02074.hp1 HG02109.hp2 HG02135.hp1 HG02572.hp1 HG02622.hp1 HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp2 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA18949.hp2 NA18952.hp2 NA18955.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18981.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18992.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19080.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0003 a0001c0001t0003g0009 a0001c0001t0003g0021 others(37): Show a0001c0001t0003g0003 a0001c0001t0003g0009 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0006g0023 a0001c0001t0006g0105 a0001c0001t0006g0106 a0001c0001t0006g0126	50	386	0.1295	188	c.168 others(207): Show c.1683+1222_1683+1223insGTTATAGAGTGTACTTAGACATACTT AGATGGTATAGCCTACTACACATGTAGGCTAAATGGTATAGCCTATAGTT CCTAGGCTATAAACCTGTGTTATAGAGTGTACTTAGACATACTTAGATGG TATAGCCTACTACACATGTAGGCTAAATGGTATAGCCTATAGTTCCTAGG CTATAAACCTGT	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	8/10			chr7	TogoVar
PPP1R12C_chr19_55085918_55122637	55097586	G G	GCAGTTCA others(181): Show GCAGTTCACCACCGTCTTCGCCCCTTCCCCGCAGTTCACCGTCTTCACCC CTTCCCTGCAGTTCACCACCGTCTTCACCCCTTCCCCGCAGTTCACCACC GTCTTCGCCCCTTCTCCGCGCAGTTCACCACCGTCTTCACACCTTCCCCG CGCAGTTCACCACCGTCTTCACCCCTACCCCGCACAGTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00609.hp1 others(37): Show HG00280.hp1 HG00408.hp1 HG00609.hp1 HG00639.hp2 HG01168.hp2 HG01934.hp2 HG02074.hp1 HG02155.hp1 HG02615.hp2 HG02717.hp2 HG02738.hp1 HG02895.hp1 HG03471.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03927.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp1 NA18945.hp1 NA18952.hp2 NA18957.hp1 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18977.hp2 NA18985.hp1 NA18990.hp2 NA18994.hp2 NA18999.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19090.hp2 NA20129.hp2 NA20905.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0004c0021 a0005c0019 a0006c0026	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0004c0021t0001 a0005c0019t0001 a0006c0026t0001	a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0045 others(27): Show a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0002t0001g0265 a0001c0003t0001g0072 a0004c0021t0001g0252 a0005c0019t0001g0264 a0006c0026t0001g0267	40	384	0.1042	188	c.951 others(205): Show c.951+1197_951+1198insAACTGTGCGGGGTAGGGGTGAAGACGGT GGTGAACTGCGCGGGGAAGGTGTGAAGACGGTGGTGAACTGCGCGGAGAA GGGGCGAAGACGGTGGTGAACTGCGGGGAAGGGGTGAAGACGGTGGTGAA CTGCAGGGAAGGGGTGAAGACGGTGAACTGCGGGGAAGGGGCGAAGACGG TGGTGAACTG	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	6/21			chr19	TogoVar
PPP1R12C_chr19_55085918_55122637	55097586	G G	GCAGTTCA others(181): Show GCAGTTCACCACCGTCTTCGCCCCTTCCCGCAGTTCACCGTTCTTCACCC CTTCCCTGCAGTTCACCACCGTCTTCACCCCTTCCCCGCAGTTCACCACC GTCTTCGCCCCTTCTCCGCGCAGTTCACCACCGTCTTCACACCTTCCCCG CGCAGTTCACCACCGTCTTCACCCCTACCCCGCACAGTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	345	0.0029	188	c.951 others(205): Show c.951+1197_951+1198insAACTGTGCGGGGTAGGGGTGAAGACGGT GGTGAACTGCGCGGGGAAGGTGTGAAGACGGTGGTGAACTGCGCGGAGAA GGGGCGAAGACGGTGGTGAACTGCGGGGAAGGGGTGAAGACGGTGGTGAA CTGCAGGGAAGGGGTGAAGAACGGTGAACTGCGGGAAGGGGCGAAGACGG TGGTGAACTG	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	6/21			chr19	TogoVar
PPP1R14C_chr6_150138044_150255392	150198247	G G	GCCCTTCA others(181): Show GCCCTTCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGG CCGCCACAGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGCCT GCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGCCCGT CACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0298 a0001c0001t0024g0298	1	310	0.0032	188	c.307 others(207): Show c.307-16495_307-16494insCTTCACGGTGGAGGAGGGCCTGGATG CCCGGCTTTGTGTGCCCCTGGCCGCCACAGTGGAGGAGGGCCTGGATGCC CGGCTTTGTGTGCCCCTGCCTGCCACGGTGGAGGAGGGCCTGGATGCCCG GCTTTGTGTGCCCCTGCCCGTCACGGTGGAGGAGGGCCTGGATGCCCGGC TTTGTGTGCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5C_chr14_101756709_101932977	101782484	C C	CTCTCCCC others(181): Show CTCTCCCCCTTCCCTTCCCTCTCTCCCCCTTCCCTTCCCCTCCCTCTCCC CCTTCCCCTCCCTCTCTCCCCTTCTCTCTCTCTTTCTCCCCTTCCCTCTC TCCCCCTTCCCCTCCCTCTCCCCCTTCCCCTCCCTCTCTCCCCTTCTCTC TCTCTTTCTCCCCTTCCCTCTCTCTCCCCTCTCTCTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0011 a0002c0002t0008g0011	1	135	0.0074	188	c.94- others(203): Show c.94-3532_94-3531insTCCCCCTTCCCTTCCCTCTCTCCCCCTTCC CTTCCCCTCCCTCTCCCCCTTCCCCTCCCTCTCTCCCCTTCTCTCTCTCT TTCTCCCCTTCCCTCTCTCCCCCTTCCCCTCCCTCTCCCCCTTCCCCTCC CTCTCTCCCCTTCTCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCTCTC TCTTTTTC	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRDM15_chr21_41793225_41884344	41814065	G G	GTTATGAG others(181): Show GTTATGAGAATGCCTCGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTT ATGAGAATGCCTTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATG AGAATGCCTTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTGTTATGAGA ACGACTTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0171 a0001c0001t0016g0171	1	404	0.0025	188	c.239 others(207): Show c.2392+1639_2392+1640insAACACTAGAGCACCCTGCGCAATCAC TAACACAAGTCGTTCTCATAACACACTAGAGCACCCTGCGCAATCACTAA CACAAGGCATTCTCATAAAACACTAGAGCACCCTGCGCAATCACTAACAC AAGGCATTCTCATAAAACACTAGAGCACCCTGCGCAATCACTAACACGAG GCATTCTCATAA	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	19/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3163225	G G	GCGCAGAA others(181): Show GCGCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAG AAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAA GCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGC CCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	161	0.0062	188	c.38- others(205): Show c.38-22888_38-22887insCGGCTCTAGAGGGCTTTGGGAGAGGGGA TGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATG TGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTC CGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCG CAGAAGCCCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTHLH_chr12_27953084_27977733	27961303	A A	ATATATAT others(181): Show ATATATATATACGTATATATATATACGTATATATATACGGATATATATAT ACGTATATATATATACGTATATATATACGTATATATATATACGTATATAT ATATACGTATATATATATATATATATACGTATATATATATACGTATATAT ATATACGTATATATATATATATACGTATATATATATACG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	448	0.0022	188	c.524 others(205): Show c.524+2044_524+2045insCGTATATATATATACGTATATATATATA TATACGTATATATATATACGTATATATATATACGTATATATATATATATA TATACGTATATATATATACGTATATATATATACGTATATATATACGTATA TATATATACGTATATATATATCCGTATATATATACGTATATATATATACG TATATATATA	PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	5/5			chr12	TogoVar
PXDN_chr2_1626887_1749515	1711329	G G	GCTCCACC others(181): Show GCTCCACCAGCACCCACTCTCCACCAGCACCCACTCCACCAGCACCCACT CCACCAGCACCCACTCTCCACCAGCACCTGCTCCACCAGCACCCACTCTC CACCAGCACCCACTCCACCAGCACCCACTCTATGAACACCCGCTCCACCA GTACCCACTCTCCACCAGCACCCGCTCCACCAGCACCCA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0151 a0001c0004t0004g0151	1	317	0.0032	188	c.201 others(207): Show c.201-18196_201-18195insTGGGTGCTGGTGGAGCGGGTGCTGGT GGAGAGTGGGTACTGGTGGAGCGGGTGTTCATAGAGTGGGTGCTGGTGGA GTGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGCAGGTGCTGGTGGAGAG TGGGTGCTGGTGGAGTGGGTGCTGGTGGAGTGGGTGCTGGTGGAGAGTGG GTGCTGGTGGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RASA3_chr13_113972783_114137623	113974274	T T	TTGGGGCG others(181): Show TTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTG GGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGG CGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGG GTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02148.hp2 NA18945.hp1 HG01361.hp2 HG02148.hp2 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0002t0002g0056 a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0002t0002g0056	3	51	0.0588	188	c.50 others(199): Show c.5072_*5073insGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGC AGAACCCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGA ACCCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACC CGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGC CCCA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding		3508		chr13	TogoVar
RELL1_chr4_37605634_37691376	37690920	C C	CCCCAGCT others(181): Show CCCCAGCTGTGACAACCAAACATATAATGAGTAATCAAATGATAGGGGTG CTAAGTCAGGCTAGACTGCAAGGTTTCTCAACTGGTGGACATTGTTGGTC CGTAATTAGTCTGTTGTGGGGACTGTTGTTGCACTGTAGATGTCTAGCTA CAATCCTTGACCTTTACTGACTACATGCAGTAGCTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	322	0.0031	188	c.-46 others(199): Show c.-4634_-4633insTGGGAGCTACTGCATGTAGTCAGTAAAGGTCAAG GATTGTAGCTAGACATCTACAGTGCAACAACAGTCCCCACAACAGACTAA TTACGGACCAACAATGTCCACCAGTTGAGAAACCTTGCAGTCTAGCCTGA CTTAGCACCCCTATCATTTGATTACTCATTATATGTTTGGTTGTCACAGC TGGG	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding		4545		chr4	TogoVar
RIMBP2_chr12_130391133_130721299	130641292	C C	CATGGTGA others(181): Show CATGGTGACTGCCGGACACTCAGCCCGGCATCACGGGCTGGATTTAGGAT GGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGT GACTGCCGGACACTCGGCCCGGCTTCACGGGCTGGATTTAGGATGGTGAC TGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0118 a0001c0020t0001g0118	1	118	0.0085	188	c.-35 others(209): Show c.-351-12837_-351-12836insCCTAAATCCAGCCCGTGATGCCGG GCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGAAGCCGGGCC GAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAG TGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCTGAGTGT CCGGCAGTCACCAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641292	C C	CATGGTGA others(181): Show CATGGTGACTGCCGGACACTCAGCCCGGCATCACGGGCTGGATTTAGGAT GGTGACTGCCGGACACTCGGCCCGGCTTCACGGGCTGGATTTAGGATGGT GACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGAC TGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	118	0.0085	188	c.-35 others(209): Show c.-351-12837_-351-12836insCCTAAATCCAGCCCGTGATGCCGG GCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCC GAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGAAGCCGGGCCGAG TGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCTGAGTGT CCGGCAGTCACCAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641368	T T	TTCACGGG others(181): Show TTCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCTTC ACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACG GGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCTTCACGGGC TGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	150	0.0067	188	c.-35 others(209): Show c.-351-12913_-351-12912insTGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGAAGCCGGGCCGAGTGTCCGGCAGTCACC ATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCATC CTAAATCCAGCCCGTGAAGCCGGGCCGAGTGTCCGGCAGTCACCATCCTA AATCCAGCCCGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641372	C C	CGGGCTGG others(181): Show CGGGCTGGATTTAGGATGGTGACTGCCGGACACTCAGCCCGGCATCACGG GCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCTTCACGGGCT GGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGA TTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0004	1	155	0.0065	188	c.-35 others(209): Show c.-351-12917_-351-12916insATGATGCCGGGCCGAGTGTCCGGC AGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGT CACCATCCTAAATCCAGCCCGTGAAGCCGGGCCGAGTGTCCGGCAGTCAC CATCCTAAATCCAGCCCGTGATGCCGGGCTGAGTGTCCGGCAGTCACCAT CCTAAATCCAGCCC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIPOR2_chr6_24799284_24940960	24922705	C C	CAAAAAAT others(181): Show CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0220 a0002c0002t0016g0220	1	326	0.0031	188	c.61+ others(205): Show c.61+13132_61+13133insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTT	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RNASE10_chr14_20500537_20518884	20505258	T T	TCCTCTCC others(181): Show TCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0099 a0003c0003t0099	a0003c0003t0099g0140 a0003c0003t0099g0140	1	382	0.0026	188	c.-76 others(197): Show c.-767_-766insCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		278		chr14	TogoVar
RNF169_chr11_74743849_74847413	74785211	A A	ATATATAT others(181): Show ATATATATATGATATATATATATGATATATATATGATATATATATATGAT ATATATGATATATATATATGATATATATATGATATATATATATGATATAT ATATGATATATATATATGATATATATATGATATATATATATGATATATAT ATGTTATATATATATGATATATATATGTTATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02895.hp1 others(2): Show HG02055.hp2 HG02559.hp1 HG02895.hp1 HG03225.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0045 a0001c0001t0053 others(1): Show a0001c0001t0008 a0001c0001t0045 a0001c0001t0053 a0001c0001t0056	a0001c0001t0008g0158 a0001c0001t0008g0217 a0001c0001t0045g0159 others(2): Show a0001c0001t0008g0158 a0001c0001t0008g0217 a0001c0001t0045g0159 a0001c0001t0053g0164 a0001c0001t0056g0165	5	348	0.0144	188	c.503 others(205): Show c.503-4405_503-4404insATATATATATATGATATATATATGATAT ATATATATGATATATATGATATATATATATGATATATATATGATATATAT ATATGATATATATATGATATATATATATGATATATATATGATATATATAT ATGATATATATATGTTATATATATATGATATATATATGTTATATATATAT TATATATATG	RNF169	ENSG00000166439.6	transcript	ENST00000299563.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
RNFT2_chr12_116733315_116858631	116733346	T T	TTAATTTT others(181): Show TTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02572.hp2 HG02630.hp2 others(9): Show HG01109.hp1 HG02572.hp2 HG02630.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 others(6): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0001t0070 a0001c0002t0068 a0001c0003t0005 a0001c0003t0016 a0001c0003t0021 a0001c0009t0023	a0001c0001t0002g0031 a0001c0001t0008g0026 a0001c0001t0008g0030 others(9): Show a0001c0001t0002g0031 a0001c0001t0008g0026 a0001c0001t0008g0030 a0001c0001t0008g0041 a0001c0001t0014g0027 a0001c0001t0070g0068 a0001c0002t0068g0042 a0001c0003t0005g0037 a0001c0003t0005g0038 a0001c0003t0016g0035 a0001c0003t0021g0040 a0001c0009t0023g0028	12	248	0.0484	188	c.-51 others(199): Show c.-5178_-5177insTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGC	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding		4968		chr12	TogoVar
RPA3_chr7_7631518_7723607	7679474	T T	TTATATAT others(181): Show TTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02965.hp1 NA20300.hp1 HG02630.hp1 HG02965.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0001 a0001c0001t0006 a0001c0001t0013	a0001c0001t0001g0108 a0001c0001t0006g0185 a0001c0001t0013g0112 a0001c0001t0001g0108 a0001c0001t0006g0185 a0001c0001t0013g0112	3	42	0.0714	188	c.-75 others(207): Show c.-758+6355_-758+6356insTAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SCNN1D_chr1_1275436_1297025	1288445	C C	CTCTGCCC others(181): Show CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0100	1	287	0.0035	188	c.166 others(205): Show c.1662+413_1662+414insCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289515	G G	GTCTCTGC others(181): Show GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0262 a0001c0020t0001g0262	1	109	0.0092	188	c.166 others(205): Show c.1663-753_1663-752insCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	C C	CCGTGTCT others(181): Show CCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCATTCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	226	0.0044	188	c.166 others(205): Show c.1663-142_1663-141insGTGTCTCTGCTCCATTCCCCGTGTCTCT GCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT CTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43192596	A A	ATATATAT others(181): Show ATATATATATACGTGTATATATATATACGTATATATATATATACGTATAT ATATATATACGTGTATATATATATATACGTATATATATATACGTGTATAT ATATATATACGTATATATATATATACGTGTATATATATATATATATACGT GTATATATATATACGTGTATATATATATATATATACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0007 a0006c0015t0007	a0006c0015t0007g0084 a0006c0015t0007g0084	1	196	0.0051	188	c.11 others(201): Show c.11400_*11401insCACGTATATATATATATATATACACGTATATA TATATACACGTATATATATATATATATACACGTATATATATATATACGTA TATATATATATACACGTATATATATATACGTATATATATATATACACGTA TATATATATATACGTATATATATATATACGTATATATATATACACGTATA TATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4683		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43192596	A A	ATATATAT others(181): Show ATATATATATACGTGTATATATATATACGTATATATATATATACGTGTAT ATATATATACGTGTATATATATATATACGTGTATATATATATACGTGTAT ATATATATATACGTGTATATATATATACGTGTATATATATATATACGTGT ATATATATATACGTGTATATATATATATATATATACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0005 a0005	a0005c0031 a0005c0031	a0005c0031t0017 a0005c0031t0017	a0005c0031t0017g0009 a0005c0031t0017g0009	1	196	0.0051	188	c.11 others(201): Show c.11400_*11401insCACGTATATATATATATATATATACACGTATA TATATATACACGTATATATATATATACACGTATATATATATACACGTATA TATATATATACACGTATATATATATACACGTATATATATATATACACGTA TATATATATACACGTATATATATATATACGTATATATATATACACGTATA TATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4683		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339677	C C	CTCTATCC others(181): Show CTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCACTC TATGCCCCCACAAGCATCACTCCAGCCCTCCCCCACTCTCCTCACTCTAT GCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCC CCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19066.hp1 HG00544.hp1 NA19066.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0007 a0002c0002 a0003c0007	a0002c0002t0002 a0003c0007t0001 a0002c0002t0002 a0003c0007t0001	a0002c0002t0002g0114 a0003c0007t0001g0099 a0002c0002t0002g0114 a0003c0007t0001g0099	2	235	0.0085	188	c.89- others(201): Show c.89-443_89-442insATGAGGAGAGTGGGGGGAGGGTTGGAGCTATG CTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTG TGGGGGCATAGAGTGAGGAGAGTGGGGGAGGGCTGGAGTGATGCTTGTGG GGGCATAGAGTGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGG GATAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SEC61G_chr7_54747253_54764211	54749370	C C	CTACAGGT others(181): Show CTACAGGTACTTAACAAACAGAAAATGTTTAAGAAATTCCTTCAGGTGAT TCATGCATGGTGAAGTTTAATACTGTTTCACAGTATTAGCTCTGGTACAG GTACTTAACAAACAGAAAATGTTTAAGAAATTCCTTCAGGTGATTCATGC ATGGTGAAGTTTAATACTGTTTCACAGTATTAGCTCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01433.hp1 HG02258.hp2 others(2): Show HG00639.hp1 HG01433.hp1 HG02258.hp2 HG02818.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0046 a0001c0001t0001g0007 a0001c0001t0001g0046	5	209	0.0239	188	c.30 others(199): Show c.3040_*3041insCCAGAGCTAATACTGTGAAACAGTATTAAACTTC ACCATGCATGAATCACCTGAAGGAATTTCTTAAACATTTTCTGTTTGTTA AGTACCTGTACCAGAGCTAATACTGTGAAACAGTATTAAACTTCACCATG CATGAATCACCTGAAGGAATTTCTTAAACATTTTCTGTTTGTTAAGTACC TGTA	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		2882		chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(181): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGAGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03041.hp1 NA18943.hp2 HG02886.hp2 HG03041.hp1 NA18943.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0008 a0001c0001t0035 a0006c0011t0004 a0001c0001t0008 a0001c0001t0035 a0006c0011t0004	a0001c0001t0008g0061 a0001c0001t0035g0066 a0006c0011t0004g0062 a0001c0001t0008g0061 a0001c0001t0035g0066 a0006c0011t0004g0062	3	42	0.0714	188	c.-30 others(207): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCTCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(181): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG01192.hp1 others(16): Show HG00558.hp1 HG00673.hp2 HG01192.hp1 HG01515.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp2 HG02683.hp1 HG02723.hp2 HG02818.hp2 HG02896.hp2 HG02965.hp2 HG03453.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 NA18941.hp1 NA18962.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0009	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005 a0004c0006 a0004c0010 a0005c0008 a0009c0018	a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 others(9): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0045 a0001c0003t0002 a0002c0002t0002 a0002c0002t0047 a0003c0005t0015 a0004c0006t0006 a0004c0010t0003 a0005c0008t0001 a0009c0018t0001	a0001c0001t0003g0216 a0001c0001t0011g0323 a0001c0001t0012g0333 others(16): Show a0001c0001t0003g0216 a0001c0001t0011g0323 a0001c0001t0012g0333 a0001c0001t0045g0282 a0001c0003t0002g0285 a0002c0002t0002g0308 a0002c0002t0002g0331 a0002c0002t0002g0332 a0002c0002t0002g0358 a0002c0002t0002g0361 a0002c0002t0002g0362 a0002c0002t0002g0367 a0002c0002t0047g0345 a0003c0005t0015g0227 a0004c0006t0006g0065 a0004c0010t0003g0164 a0005c0008t0001g0275 a0005c0008t0001g0276 a0009c0018t0001g0217	19	58	0.3276	188	c.-30 others(207): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9353319	G G	GAAGGAAA others(181): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGCAAAGGA AAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAAGGGAAATGAA AGGAAATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0056 a0001c0001t0013g0056	1	119	0.0084	188	c.125 others(207): Show c.125-15508_125-15507insTCCTTCCCTTTCCTTTCCTTTCATTT CCTTTCATTTCCTTTCATTTCCCTTCCCTTCCCTTCCCTTCCTTTCCCTC CTTTCCTTTCCTTTCCTTTGCTTCCCTTCCCTTCCCTTCCCTTTCCTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353334	A A	AAAGGAAA others(181): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGG AAGGGAAGGGAAGGGAAGCAAAGGAAAGGAAAGGAAAGGAGGGAAAGGAA GGGAAGGGAAGGGAAGGGAAATGAAAGGAAATGAAAGGAAAGGAAAGGGA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	130	0.0077	188	c.125 others(207): Show c.125-15523_125-15522insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTTCCCTT CCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTGCTTCC CTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353339	A A	AAAGGAAA others(181): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGG AAGGGAAGGGAAGGGAAGCAAAGGAAAGGAAAGGAAAGGAGGGAAAGGAA GGGAAGGGAAGGGAAGGGAAATGAAAGGAAATGAAAGGAAAGGAAAGGGA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0058 a0001c0006t0058	a0001c0006t0058g0083 a0001c0006t0058g0083	1	120	0.0083	188	c.125 others(207): Show c.125-15528_125-15527insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTTCCCTT CCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTGCTTCC CTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353339	A A	AAAGGAAA others(181): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGG AAGGGAAGGGAAGCAAAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAA GGGAAGGGAAGGGAAATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18964.hp1 HG02735.hp2 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0050 a0001c0002t0002 a0001c0002t0050	a0001c0002t0002g0099 a0001c0002t0050g0013 a0001c0002t0002g0099 a0001c0002t0050g0013	2	121	0.0165	188	c.125 others(207): Show c.125-15528_125-15527insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTT CCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTG CTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353349	A A	AAAGGAAA others(181): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGG AAGGGAAGGGAAGCAAAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAA GGGAAGGGAAGGGAAATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	107	0.0093	188	c.125 others(207): Show c.125-15538_125-15537insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTT CCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTG CTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353349	A A	AAAGGAAA others(181): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGG AAGCAAAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAA GGGAAATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01255.hp1 HG03225.hp2 HG00741.hp2 HG01255.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0040 a0001c0009t0002 a0001c0001t0001 a0001c0002t0040 a0001c0009t0002	a0001c0001t0001g0018 a0001c0002t0040g0058 a0001c0009t0002g0113 a0001c0001t0001g0018 a0001c0002t0040g0058 a0001c0009t0002g0113	3	109	0.0275	188	c.125 others(207): Show c.125-15538_125-15537insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTT CCTTTCATTTCCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTC CTTTCCTTTGCTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCC TTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353349	A A	AAAGGAAA others(181): Show AAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGCA AAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAAGGGAA ATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0036 a0001c0001t0013g0036	1	107	0.0093	188	c.125 others(207): Show c.125-15538_125-15537insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTT CATTTCCTTTCATTTCCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTC CTTTCCTTTCCTTTGCTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCC TTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar

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