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
KIF26B_chr1_245149985_245714432	245443862	TGCGGTCA others(76): Show TGCGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTC ACCCTGCGGTCATCTCCCTCACTGTTCACCTAGA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0094 a0001c0001t0029g0094	1	160	0.0063	-83	c.116 others(104): Show c.1166+24143_1166+24225delCTGCGGTCATCTCCCTCACTGTTC ACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTCA CTGTTCACC	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAMA1_chr18_6936742_7122797	7082885	CACTTGCT others(76): Show CACTTGCTCCTTATTCACCCCCACCAGTTGCAGGACATCAAAAGAACTCC CCACTACCTCCCAATCTGAGTAACTGCAGGGTCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02257.hp1 HG02886.hp1 others(5): Show HG01175.hp2 HG02257.hp1 HG02886.hp1 HG03098.hp1 HG03139.hp2 HG03471.hp2 HG03579.hp1 NA19240.hp1	a0003 a0009 a0030 others(4): Show a0003 a0009 a0030 a0048 a0063 a0092 a0104	a0003c0135 a0003c0146 a0009c0140 others(5): Show a0003c0135 a0003c0146 a0009c0140 a0030c0020 a0048c0169 a0063c0210 a0092c0032 a0104c0175	a0003c0135t0003 a0003c0146t0001 a0009c0140t0001 others(5): Show a0003c0135t0003 a0003c0146t0001 a0009c0140t0001 a0030c0020t0002 a0048c0169t0001 a0063c0210t0001 a0092c0032t0003 a0104c0175t0001	a0003c0135t0003g0129 a0003c0146t0001g0203 a0009c0140t0001g0202 others(5): Show a0003c0135t0003g0129 a0003c0146t0001g0203 a0009c0140t0001g0202 a0030c0020t0002g0113 a0048c0169t0001g0238 a0063c0210t0001g0195 a0092c0032t0003g0251 a0104c0175t0001g0176	8	278	0.0288	-83	c.62- others(98): Show c.62-2511_62-2429delAGACCCTGCAGTTACTCAGATTGGGAGGTA GTGGGGAGTTCTTTTGATGTCCTGCAACTGGTGGGGGTGAATAAGGAGCA AGT	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	1/62			chr18	TogoVar
LCN15_chr9_136754634_136769518	136769435	CCCCCGCC others(76): Show CCCCCGCCACCCCGCCACCCCCCATGCACTGCCCCCCCCGACACCCCGAC ACCCCCCATGCACTGCCCCCCCGCCACCCCGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	356	0.0028	-83	c.-50 others(94): Show c.-5030_-4948delTGGCGGGGTGGCGGGGGGGCAGTGCATGGGGGGT GTCGGGGTGTCGGGGGGGGCAGTGCATGGGGGGTGGCGGGGTGGCGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4918		chr9	TogoVar
LMF1_chr16_848634_975984	949407	CCAACAAC others(76): Show CCAACAACAGTCAGCCAACGACAGAGTCAGGCCAACGACAGAGTCAGCCA ATGACAGAGTCAGAGCCAACGACAGAGTCAGAGA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0124 a0001c0003t0001g0124	1	294	0.0034	-83	c.503 others(100): Show c.503+4867_503+4949delTCTCTGACTCTGTCGTTGGCTCTGACTC TGTCATTGGCTGACTCTGTCGTTGGCCTGACTCTGTCGTTGGCTGACTGT TGTTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF2_chr22_50497949_50512702	50504102	CCCAGTGC others(76): Show CCCAGTGCCCGGCCTTACCCCTGCACCCCAGGCTCCACACCCCACCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0039 a0002c0008t0002g0039	1	414	0.0024	-83	c.171 others(100): Show c.1718+155_1719-199delTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGTGGGGTGTGGAGCCTGGGGTGCAGGGGTAAGGCCGGGC ACTGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
MACROD2_chr20_13990516_16058197	15205535	ACAACAGC others(76): Show ACAACAGCCAACTTAGCTAAATACTAAGTTTCTGTTACTTCAAAGAAAGA AGAGAAAATAGATACAGGTCTGTTGGAAGTCTGG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03209.hp1 HG00738.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0003 a0001c0001t0009g0005 a0001c0001t0005g0003 a0001c0001t0009g0005	2	24	0.0833	-83	c.419 others(102): Show c.419-24341_419-24259delCAGGTCTGTTGGAAGTCTGGCAACAG CCAACTTAGCTAAATACTAAGTTTCTGTTACTTCAAAGAAAGAAGAGAAA ATAGATA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAEA_chr4_1284891_1345137	1335553	GCCCCACA others(76): Show GCCCCACAGTGTGTTGAAATCACAGAGTTAAGTCAGCACTGGCCCCATGG CGTGTTGAAACCACAGAGTTAAGTCAGCTCTGGC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA20752.hp1 HG01123.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0016 a0001c0002t0001g0018	2	388	0.0052	-83	c.766 others(100): Show c.766-1230_766-1148delTCTGGCCCCCACAGTGTGTTGAAATCAC AGAGTTAAGTCAGCACTGGCCCCATGGCGTGTTGAAACCACAGAGTTAAG TCAGC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MED16_chr19_862963_898187	873259	CAGGGGCG others(76): Show CAGGGGCGGGGCTGAGGTGGGACTCCAAGCAGGGGCGGGACTCCAAGTAG GGGCGGGACTCCAAGTAGGGGCGGGACTCCAACT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA19007.hp1 HG00673.hp2 NA19007.hp1	a0002 a0018 a0002 a0018	a0002c0009 a0018c0008 a0002c0009 a0018c0008	a0002c0009t0001 a0018c0008t0001 a0002c0009t0001 a0018c0008t0001	a0002c0009t0001g0018 a0018c0008t0001g0026 a0002c0009t0001g0018 a0018c0008t0001g0026	2	56	0.0357	-83	c.190 others(100): Show c.1905+107_1905+189delAGTTGGAGTCCCGCCCCTACTTGGAGTC CCGCCCCTACTTGGAGTCCCGCCCCTGCTTGGAGTCCCACCTCAGCCCCG CCCCT	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15			chr19	TogoVar
MGAM_chr7_141990879_142111747	142042166	TATATAAT others(76): Show TATATAATATATAACATATTATATATACATATAATATATAACATATTATA TATACATATAATATATAACATATATTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19030.hp1 HG00642.hp1 NA19030.hp1	a0013 a0013	a0013c0043 a0013c0043	a0013c0043t0001 a0013c0043t0001	a0013c0043t0001g0238 a0013c0043t0001g0239 a0013c0043t0001g0238 a0013c0043t0001g0239	2	316	0.0063	-83	c.249 others(102): Show c.2498+1339_2498+1421delTATATATACATATAATATATAACATA TTATATATACATATAATATATAACATATATTATATATACATATAATATAT AACATAT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MLLT10_chr10_21529232_21748630	21613648	TCCCCAGC others(76): Show TCCCCAGCACTTTGAGAGACAGAGGTGGGCAGATTGCCTGAGCTCAGGAG TTCAGAGCCACCCTGGGCAAGGTGGTAAAACCCC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp1 HG02723.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0085 a0001c0001t0007g0086 a0001c0001t0007g0085 a0001c0001t0007g0086	2	192	0.0104	-83	c.510 others(100): Show c.510-1182_510-1100delCCCCAGCACTTTGAGAGACAGAGGTGGG CAGATTGCCTGAGCTCAGGAGTTCAGAGCCACCCTGGGCAAGGTGGTAAA ACCCC	MLLT10	ENSG00000078403.17	transcript	ENST00000307729.12	protein_coding	6/22			chr10	TogoVar
MLPH_chr2_237482251_237560322	237543957	GGGGGACA others(76): Show GGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGT GGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02976.hp2 HG03471.hp2 others(1): Show HG02074.hp2 HG02976.hp2 HG03471.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003	a0003c0003t0001g0111 a0003c0003t0002g0240 a0003c0003t0003g0125 others(1): Show a0003c0003t0001g0111 a0003c0003t0002g0240 a0003c0003t0003g0125 a0003c0003t0003g0134	4	286	0.0140	-83	c.153 others(102): Show c.1539+1300_1539+1382delGGGACAGTGGTGAGTGGGGGACAGTG GTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAG TGGTGAG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLXIP_chr12_122073756_122152344	122124331	CCCTCAGC others(76): Show CCCTCAGCCGTCCCCCTCCTCAGCCGTCCCCCGTCCTCAGCCGTCCCCCA CCTCAGCCGCCCCCCCGCCCTCAGCCGTCCCCCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(159): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01515.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18956.hp2 NA18964.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19054.hp2 NA19060.hp1 NA19062.hp1 NA19067.hp2 NA19068.hp1 NA19082.hp2 NA19085.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0011 a0018	a0001c0001 a0001c0003 a0001c0023 others(11): Show a0001c0001 a0001c0003 a0001c0023 a0002c0002 a0002c0004 a0002c0009 a0003c0006 a0003c0022 a0004c0007 a0005c0012 a0008c0021 a0009c0024 a0011c0016 a0018c0025	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(46): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0001t0043 a0001c0001t0044 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0001t0064 a0001c0001t0065 a0001c0001t0071 a0001c0001t0078 a0001c0003t0007 a0001c0023t0001 a0002c0002t0005 a0002c0004t0005 a0002c0004t0066 a0002c0004t0068 a0002c0004t0069 a0002c0009t0001 a0002c0009t0011 a0002c0009t0070 a0003c0006t0001 a0003c0006t0015 a0003c0022t0061 a0004c0007t0019 a0004c0007t0034 a0004c0007t0075 a0004c0007t0076 a0005c0012t0073 a0005c0012t0074 a0008c0021t0001 a0009c0024t0019 a0011c0016t0019 a0018c0025t0007	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(156): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0006g0100 a0001c0001t0006g0103 a0001c0001t0006g0108 a0001c0001t0006g0115 a0001c0001t0006g0118 a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0006g0122 a0001c0001t0006g0128 a0001c0001t0006g0134 a0001c0001t0006g0334 a0001c0001t0007g0068 a0001c0001t0007g0076 a0001c0001t0007g0089 a0001c0001t0007g0112 a0001c0001t0007g0125 a0001c0001t0007g0285 a0001c0001t0007g0346 a0001c0001t0008g0026 a0001c0001t0008g0073 a0001c0001t0008g0086 a0001c0001t0008g0141 a0001c0001t0008g0148 a0001c0001t0008g0165 a0001c0001t0008g0166 a0001c0001t0008g0167 a0001c0001t0011g0050 a0001c0001t0011g0052 a0001c0001t0011g0054 a0001c0001t0011g0059 a0001c0001t0011g0062 a0001c0001t0013g0034 a0001c0001t0013g0035 a0001c0001t0013g0036 a0001c0001t0013g0037 a0001c0001t0013g0349 a0001c0001t0014g0067 a0001c0001t0014g0094 a0001c0001t0014g0127 a0001c0001t0014g0133 a0001c0001t0015g0143 a0001c0001t0015g0145 a0001c0001t0015g0175 a0001c0001t0018g0087 a0001c0001t0018g0088 a0001c0001t0018g0140 a0001c0001t0018g0142 a0001c0001t0022g0074 a0001c0001t0022g0085 a0001c0001t0022g0161 a0001c0001t0029g0051 a0001c0001t0029g0347 a0001c0001t0030g0056 a0001c0001t0030g0057 a0001c0001t0031g0342 a0001c0001t0031g0343 a0001c0001t0032g0091 a0001c0001t0032g0105 a0001c0001t0033g0163 a0001c0001t0033g0164 a0001c0001t0036g0098 a0001c0001t0043g0047 a0001c0001t0044g0048 a0001c0001t0058g0348 a0001c0001t0059g0064 a0001c0001t0060g0069 a0001c0001t0062g0139 a0001c0001t0064g0146 a0001c0001t0065g0095 a0001c0001t0071g0099 a0001c0001t0078g0129 a0001c0003t0007g0066 a0001c0023t0001g0111 a0002c0002t0005g0025 a0002c0002t0005g0039 a0002c0002t0005g0041 a0002c0004t0005g0042 a0002c0004t0005g0043 a0002c0004t0005g0044 a0002c0004t0005g0046 a0002c0004t0005g0168 a0002c0004t0066g0045 a0002c0004t0068g0173 a0002c0004t0069g0040 a0002c0009t0001g0055 a0002c0009t0011g0053 a0002c0009t0070g0033 a0003c0006t0001g0027 a0003c0006t0001g0028 a0003c0006t0001g0029 a0003c0006t0001g0030 a0003c0006t0001g0031 a0003c0006t0001g0032 a0003c0006t0015g0065 a0003c0022t0061g0179 a0004c0007t0019g0339 a0004c0007t0034g0335 a0004c0007t0075g0338 a0004c0007t0076g0337 a0005c0012t0073g0160 a0005c0012t0074g0159 a0008c0021t0001g0104 a0009c0024t0019g0341 a0011c0016t0019g0340 a0018c0025t0007g0083	162	354	0.4576	-83	c.414 others(100): Show c.414-2892_414-2810delTCCTCAGCCGTCCCCCACCTCAGCCGCC CCCCCGCCCTCAGCCGTCCCCCACCTCAGCCGTCCCCCTCCTCAGCCGTC CCCCG	MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
MUC12_chr7_100964565_101023936	101018074	TCCCTCCC others(76): Show TCCCTCCCCCTGGGACCCCTCCCTTCCCCCCTGGATTCCCTCCCTCCCCC TGGGACCCCTTCCCCTTCCCCCTGGGACTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG01928.hp1 others(39): Show HG00423.hp2 HG00621.hp1 HG01928.hp1 HG02027.hp1 HG02071.hp2 HG02074.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03492.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18947.hp1 NA18959.hp1 NA18964.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18982.hp2 NA18984.hp2 NA18990.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp2 NA19057.hp2 NA19060.hp1 NA19090.hp2 NA20300.hp2	a0003 a0006 a0013 others(18): Show a0003 a0006 a0013 a0023 a0028 a0038 a0044 a0060 a0063 a0066 a0068 a0088 a0090 a0103 a0107 a0108 a0110 a0114 a0118 a0119 a0123	a0003c0019 a0003c0103 a0003c0104 others(34): Show a0003c0019 a0003c0103 a0003c0104 a0003c0105 a0003c0106 a0003c0108 a0003c0109 a0003c0110 a0003c0111 a0003c0112 a0003c0114 a0003c0115 a0003c0116 a0003c0117 a0003c0118 a0006c0090 a0013c0003 a0013c0131 a0023c0020 a0023c0129 a0028c0208 a0038c0018 a0044c0076 a0060c0132 a0063c0120 a0066c0121 a0068c0123 a0088c0075 a0090c0279 a0103c0119 a0107c0100 a0108c0107 a0110c0122 a0114c0130 a0118c0083 a0119c0102 a0123c0113	a0003c0019t0001 a0003c0103t0001 a0003c0104t0001 others(34): Show a0003c0019t0001 a0003c0103t0001 a0003c0104t0001 a0003c0105t0001 a0003c0106t0001 a0003c0108t0001 a0003c0109t0001 a0003c0110t0001 a0003c0111t0001 a0003c0112t0001 a0003c0114t0001 a0003c0115t0001 a0003c0116t0001 a0003c0117t0001 a0003c0118t0001 a0006c0090t0001 a0013c0003t0001 a0013c0131t0001 a0023c0020t0001 a0023c0129t0001 a0028c0208t0001 a0038c0018t0001 a0044c0076t0001 a0060c0132t0001 a0063c0120t0001 a0066c0121t0001 a0068c0123t0001 a0088c0075t0001 a0090c0279t0001 a0103c0119t0001 a0107c0100t0001 a0108c0107t0001 a0110c0122t0001 a0114c0130t0001 a0118c0083t0001 a0119c0102t0001 a0123c0113t0001	a0003c0019t0001g0129 a0003c0019t0001g0130 a0003c0103t0001g0211 others(37): Show a0003c0019t0001g0129 a0003c0019t0001g0130 a0003c0103t0001g0211 a0003c0104t0001g0119 a0003c0105t0001g0110 a0003c0106t0001g0117 a0003c0108t0001g0032 a0003c0109t0001g0125 a0003c0110t0001g0115 a0003c0111t0001g0102 a0003c0112t0001g0111 a0003c0114t0001g0261 a0003c0115t0001g0135 a0003c0116t0001g0120 a0003c0117t0001g0095 a0003c0118t0001g0109 a0006c0090t0001g0128 a0013c0003t0001g0003 a0013c0003t0001g0124 a0013c0131t0001g0214 a0023c0020t0001g0121 a0023c0129t0001g0187 a0028c0208t0001g0174 a0038c0018t0001g0014 a0038c0018t0001g0126 a0044c0076t0001g0113 a0060c0132t0001g0040 a0063c0120t0001g0103 a0066c0121t0001g0278 a0068c0123t0001g0013 a0088c0075t0001g0014 a0090c0279t0001g0173 a0103c0119t0001g0116 a0107c0100t0001g0043 a0108c0107t0001g0112 a0110c0122t0001g0240 a0114c0130t0001g0013 a0118c0083t0001g0134 a0119c0102t0001g0298 a0123c0113t0001g0114	42	342	0.1228	-83	c.159 others(102): Show c.15966+431_15967-419delCCCTTCCCCCCTGGATTCCCTCCCTC CCCCTGGGACCCCTTCCCCTTCCCCCTGGGACTCCCTCCCCTCCCCCTGG GACCCCT	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC17_chr7_101015081_101063859	101018074	TCCCTCCC others(76): Show TCCCTCCCCCTGGGACCCCTCCCTTCCCCCCTGGATTCCCTCCCTCCCCC TGGGACCCCTTCCCCTTCCCCCTGGGACTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG02132.hp1 HG03041.hp1 others(14): Show HG00621.hp2 HG02132.hp1 HG03041.hp1 HG03130.hp1 HG03491.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp2 NA18941.hp1 NA18945.hp1 NA18946.hp1 NA18949.hp2 NA19060.hp2 NA19079.hp1	a0004 a0005 a0010 others(1): Show a0004 a0005 a0010 a0052	a0004c0004 a0004c0015 a0004c0028 others(10): Show a0004c0004 a0004c0015 a0004c0028 a0004c0030 a0004c0032 a0004c0046 a0004c0048 a0005c0009 a0005c0014 a0005c0031 a0005c0053 a0010c0117 a0052c0041	a0004c0004t0001 a0004c0004t0003 a0004c0015t0003 others(11): Show a0004c0004t0001 a0004c0004t0003 a0004c0015t0003 a0004c0028t0003 a0004c0030t0003 a0004c0032t0003 a0004c0046t0003 a0004c0048t0001 a0005c0009t0003 a0005c0014t0003 a0005c0031t0003 a0005c0053t0003 a0010c0117t0002 a0052c0041t0002	a0004c0004t0001g0123 a0004c0004t0003g0008 a0004c0004t0003g0133 others(13): Show a0004c0004t0001g0123 a0004c0004t0003g0008 a0004c0004t0003g0133 a0004c0015t0003g0117 a0004c0028t0003g0125 a0004c0030t0003g0153 a0004c0032t0003g0113 a0004c0046t0003g0112 a0004c0048t0001g0116 a0005c0009t0003g0136 a0005c0014t0003g0114 a0005c0014t0003g0121 a0005c0031t0003g0132 a0005c0053t0003g0005 a0010c0117t0002g0063 a0052c0041t0002g0283	17	366	0.0465	-83	c.-20 others(94): Show c.-2061_-1979delCCCTCCCCCTGGGACCCCTCCCTTCCCCCCTGGA TTCCCTCCCTCCCCCTGGGACCCCTTCCCCTTCCCCCTGGGACTCCCTC	MUC17	ENSG00000169876.14	transcript	ENST00000306151.9	protein_coding		2006		chr7	TogoVar
MUSK_chr9_110663791_110811558	110689421	ATATATGT others(76): Show ATATATGTAAAAAATATTAAAATATGTAAAAAATACATATTTATATATAT GTAAAAAATATAAAAATATGTAAAAAATACATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02258.hp2 HG02280.hp1 others(7): Show HG01261.hp1 HG02258.hp2 HG02280.hp1 HG02809.hp1 HG02922.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0023	a0001c0001t0002g0168 a0001c0001t0003g0173 a0001c0001t0006g0172 others(7): Show a0001c0001t0002g0168 a0001c0001t0003g0173 a0001c0001t0006g0172 a0001c0001t0009g0176 a0001c0001t0009g0177 a0001c0001t0012g0178 a0001c0001t0015g0169 a0001c0001t0015g0170 a0001c0001t0015g0171 a0001c0001t0023g0174	10	326	0.0307	-83	c.358 others(100): Show c.358+2155_358+2237delATATGTAAAAAATATTAAAATATGTAAA AAATACATATTTATATATATGTAAAAAATATAAAAATATGTAAAAAATAC ATATT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYOM2_chr8_2040046_2150456	2085770	CTTTGTGG others(76): Show CTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTG ATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03098.hp1 HG02280.hp1 HG03098.hp1	a0001 a0029 a0001 a0029	a0001c0096 a0029c0095 a0001c0096 a0029c0095	a0001c0096t0001 a0029c0095t0001 a0001c0096t0001 a0029c0095t0001	a0001c0096t0001g0031 a0029c0095t0001g0029 a0001c0096t0001g0031 a0029c0095t0001g0029	2	403	0.0050	-83	c.164 others(100): Show c.1644+382_1644+464delTTGTGGCCCCCTACTGTCGTGATCTCTG CGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTC TTTGT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NCAPH2_chr22_50503224_50529780	50504102	CCCAGTGC others(76): Show CCCAGTGCCCGGCCTTACCCCTGCACCCCAGGCTCCACACCCCACCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG04184.hp2 HG03239.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0024 a0001c0001t0008g0024 a0001c0001t0005g0024 a0001c0001t0008g0024	2	384	0.0052	-83	c.-42 others(94): Show c.-4235_-4153delCCAGTGCCCGGCCTTACCCCTGCACCCCAGGCTC CACACCCCACCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		4121		chr22	TogoVar
NDUFA10_chr2_239952372_240030342	239974879	ACTCTACC others(76): Show ACTCTACCACCAAAGAGCTGGTCATTTAAAAATATGTGACACTCCGCCAC CAAAGAGCTGGTCATTTAAAAACATGTGACACTC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0175 a0001c0001t0048g0175	1	412	0.0024	-83	c.100 others(104): Show c.1000-13776_1000-13694delGAGTGTCACATGTTTTTAAATGAC CAGCTCTTTGGTGGCGGAGTGTCACATATTTTTAAATGACCAGCTCTTTG GTGGTAGAG	NDUFA10	ENSG00000130414.13	transcript	ENST00000252711.7	protein_coding	9/9			chr2	TogoVar
NEU4_chr2_241804193_241822413	241807533	TCCCCCCT others(76): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0157 a0001c0004t0001g0157	1	319	0.0031	-83	c.-17 others(94): Show c.-1744_-1662delCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1659		chr2	TogoVar
NFATC4_chr14_24363184_24384601	24364731	ATATACAT others(76): Show ATATACATATATAGTATATATATAGTATATCTGTGTATATGCTATATAGT ATAGTGTATATCTGTGTATATATAGTATATCTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0001 a0002c0003t0002g0001	1	394	0.0025	-83	c.-36 others(94): Show c.-3609_-3527delTATACATATATAGTATATATATAGTATATCTGTG TATATGCTATATAGTATAGTGTATATCTGTGTATATATAGTATATCTGT	NFATC4	ENSG00000100968.14	transcript	ENST00000250373.9	protein_coding		3452		chr14	TogoVar
NGB_chr14_77260483_77276206	77269665	CCTTTCTC others(76): Show CCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0116 a0001c0001t0010g0116	1	366	0.0027	-83	c.90- others(96): Show c.90-422_90-340delAGAGAGAGAGAGAGAGAGAGAAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAA G	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGB_chr14_77260483_77276206	77269721	TCTCTCTT others(76): Show TCTCTCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCCCTCTCCCTCTCCCCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01256.hp2 HG02293.hp2 others(5): Show HG01167.hp1 HG01256.hp2 HG02293.hp2 HG03195.hp2 NA18939.hp2 NA18957.hp1 NA18962.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0190 a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0190	8	366	0.0219	-83	c.90- others(96): Show c.90-478_90-396delGGGGGGGGGGAGAGGGAGAGGGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAGA G	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NKD2_chr5_1003802_1043943	1022435	ATTGTCCC others(76): Show ATTGTCCCTGCTCTTCCCACCCGCTGTGGGTGTCCCAGCCCTTTGTCCCT GCTCTTCCCACCCGCTAGTGGGTGTCCCAGCCCT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp2 HG01106.hp1 others(9): Show HG00408.hp1 HG00741.hp2 HG01106.hp1 HG01168.hp2 HG02132.hp1 HG02258.hp2 HG03927.hp1 HG04199.hp1 NA18965.hp2 NA18984.hp1 NA18985.hp1 NA19054.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0014 a0012c0021 a0001c0001 a0001c0014 a0012c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0014t0001 a0012c0021t0001	a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0046 others(9): Show a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0002g0042 a0001c0001t0014g0148 a0001c0014t0001g0012 a0012c0021t0001g0036	12	319	0.0376	-83	c.142 others(100): Show c.142-9687_142-9605delTGTCCCAGCCCTTTGTCCCTGCTCTTCC CACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCT GTGGG	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1022869	CGCTAGTG others(76): Show CGCTAGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTGTGG GTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG02109.hp2 others(2): Show HG01081.hp2 HG02055.hp2 HG02109.hp2 HG02965.hp2 HG02970.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0004 a0003c0004t0001 a0001c0001t0002 a0001c0001t0004 a0003c0004t0001	a0001c0001t0002g0181 a0001c0001t0004g0057 a0001c0001t0004g0058 others(2): Show a0001c0001t0002g0181 a0001c0001t0004g0057 a0001c0001t0004g0058 a0003c0004t0001g0099 a0003c0004t0001g0101	5	319	0.0157	-83	c.142 others(100): Show c.142-9279_142-9197delAGTGGGTGTCCCAGCCCTTTGTCCCTGC TCTTCCCACCCTCTGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCAC CTGCT	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1026165	CCAGCCCT others(76): Show CCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCAT TGTCCCTGCTCTTCCCACCTGCTAGTGGGCGTCT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0017 a0007c0015t0017	a0007c0015t0017g0098 a0007c0015t0017g0098	1	319	0.0031	-83	c.142 others(100): Show c.142-5980_142-5898delTTTGTCCCTGCTCTTCCCACCCTCTGTG GGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCTGCTAGTGGGCGTCTC AGCCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1026172	TTTGTCCC others(76): Show TTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCT GCTCTTCCCACCTGCTAGTGGGCGTCTCAGCCCA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00597.hp1 others(101): Show HG00140.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02970.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18952.hp2 NA18960.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18972.hp1 NA18973.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA19009.hp1 NA19011.hp2 NA19054.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19079.hp1 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0008 a0009 a0011	a0001c0001 a0001c0018 a0001c0022 others(6): Show a0001c0001 a0001c0018 a0001c0022 a0002c0003 a0003c0004 a0005c0009 a0008c0016 a0009c0011 a0011c0013	a0001c0001t0001 a0001c0001t0002 a0001c0018t0002 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0018t0002 a0001c0022t0002 a0002c0003t0002 a0003c0004t0001 a0003c0004t0025 a0005c0009t0002 a0008c0016t0018 a0009c0011t0002 a0011c0013t0002	a0001c0001t0001g0047 a0001c0001t0001g0168 a0001c0001t0001g0177 others(89): Show a0001c0001t0001g0047 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0103 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0192 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0018t0002g0182 a0001c0022t0002g0016 a0002c0003t0002g0019 a0002c0003t0002g0155 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0101 a0003c0004t0025g0102 a0005c0009t0002g0249 a0008c0016t0018g0104 a0009c0011t0002g0007 a0011c0013t0002g0165	104	319	0.3260	-83	c.142 others(100): Show c.142-5958_142-5876delTCTGTGGGCGTCTCAGCCCATTGTCCCT GCTCTTCCCACCTGCTAGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCC CACCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1026213	ATTGTCCC others(76): Show ATTGTCCCTGCTCTTCCCACCTGCTAGTGGGCGTCTCAGCCCATTGTCCC TGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0117 a0001c0001t0015g0117	1	319	0.0031	-83	c.142 others(100): Show c.142-5918_142-5836delTGCTAGTGGGCGTCTCAGCCCATTGTCC CTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTC CCACC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NME8_chr7_37843597_37905397	37848208	AGAAGAAG others(76): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAACAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0160 a0001c0007t0001g0160	1	388	0.0026	-83	c.-76 others(92): Show c.-760_-678delGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAACAAGAAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		388		chr7	TogoVar
NOC4L_chr12_132139457_132157468	132149932	CCACACCC others(76): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02145.hp2 HG03130.hp2 others(2): Show HG01123.hp1 HG02145.hp2 HG03130.hp2 HG03486.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0001g0151 others(2): Show a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0001g0151 a0001c0001t0001g0200 a0001c0001t0001g0280	5	294	0.0170	-83	c.902 others(99): Show c.902-1012_902-930delACTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149969	ACTCACAC others(76): Show ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG04199.hp2 HG01255.hp1 HG04199.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0015c0014 a0001c0001 a0015c0014	a0001c0001t0001 a0015c0014t0001 a0001c0001t0001 a0015c0014t0001	a0001c0001t0001g0224 a0015c0014t0001g0111 a0001c0001t0001g0224 a0015c0014t0001g0111	2	294	0.0068	-83	c.902 others(98): Show c.902-959_902-877delCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NPR3_chr5_32706321_32796720	32793845	CCTGCCAT others(76): Show CCTGCCATGACATAGAGGACTCGTGTGTCCTAAAGAAGAGCCTCCCACCT CGGTGCCCTCAGCCCCAGGTCTTTCCCGATAATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0071	1	320	0.0031	-83	c.75 others(94): Show c.7501_*7583delCTGCCATGACATAGAGGACTCGTGTGTCCTAAAG AAGAGCCTCCCACCTCGGTGCCCTCAGCCCCAGGTCTTTCCCGATAATG	NPR3	ENSG00000113389.16	transcript	ENST00000265074.13	protein_coding		2126		chr5	TogoVar
OBSCN_chr1_228203044_228383876	228352107	TCGTGGTG others(76): Show TCGTGGTGGCTGTGTGCCAACTACGGGTGCCCCAGGCTCCAGGCGCTAGC TTCTGTCCAGTTCCTCCAGGGGCACTTGTCCGGC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2	a0001 a0062 a0001 a0062	a0001c0001 a0062c0102 a0001c0001 a0062c0102	a0001c0001t0001 a0062c0102t0001 a0001c0001t0001 a0062c0102t0001	a0001c0001t0001g0201 a0001c0001t0001g0203 a0062c0102t0001g0204 a0001c0001t0001g0201 a0001c0001t0001g0203 a0062c0102t0001g0204	3	320	0.0094	-83	c.214 others(102): Show c.21420+659_21420+741delGTGGTGGCTGTGTGCCAACTACGGGT GCCCCAGGCTCCAGGCGCTAGCTTCTGTCCAGTTCCTCCAGGGGCACTTG TCCGGCC	OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	89/115		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2B11_chr1_247444182_247463104	247458550	GTGTGTGT others(76): Show GTGTGTGTGTGTTGAACTCTTTAGGGCTGGTGTGTGTATGTGTGTGTGTG TTGAACTCTTTAGGGCTGGTGCATGGTGTGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01261.hp1 HG01891.hp2 others(18): Show HG01243.hp2 HG01261.hp1 HG01891.hp2 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02572.hp2 HG02723.hp1 HG02818.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 NA18522.hp1 NA19030.hp1 NA20129.hp2	a0001 a0008 a0011 a0001 a0008 a0011	a0001c0002 a0001c0012 a0001c0019 others(3): Show a0001c0002 a0001c0012 a0001c0019 a0008c0014 a0008c0035 a0011c0017	a0001c0002t0008 a0001c0002t0030 a0001c0002t0072 others(9): Show a0001c0002t0008 a0001c0002t0030 a0001c0002t0072 a0001c0002t0077 a0001c0012t0074 a0001c0012t0076 a0001c0019t0073 a0008c0014t0078 a0008c0014t0079 a0008c0035t0163 a0011c0017t0031 a0011c0017t0075	a0001c0002t0008g0008 a0001c0002t0030g0039 a0001c0002t0072g0089 others(9): Show a0001c0002t0008g0008 a0001c0002t0030g0039 a0001c0002t0072g0089 a0001c0002t0077g0088 a0001c0012t0074g0091 a0001c0012t0076g0093 a0001c0019t0073g0090 a0008c0014t0078g0095 a0008c0014t0079g0094 a0008c0035t0163g0213 a0011c0017t0031g0040 a0011c0017t0075g0092	21	478	0.0439	-83	c.-40 others(94): Show c.-4077_-3995delTACACACACCATGCACCAGCCCTAAAGAGTTCAA CACACACACACATACACACACCAGCCCTAAAGAGTTCAACACACACACA	OR2B11	ENSG00000177535.10	transcript	ENST00000641149.2	protein_coding		447		chr1	TogoVar
OR52E6_chr11_5835928_5846897	5844188	ATATATAT others(76): Show ATATATATATTTTTATATATAATATATATTATATATTATATATATTATAT ATTATATATATTATATTATATTATATATATTTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02630.hp2 others(4): Show HG02257.hp2 HG02559.hp1 HG02630.hp2 HG02809.hp2 HG02886.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	7	450	0.0156	-83	c.-23 others(94): Show c.-2374_-2292delATAAATATATATAATATAATATAATATATATAAT ATATAATATATATAATATATAATATATATTATATATAAAAATATATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2292		chr11	TogoVar
OTUD7A_chr15_31470398_31875673	31511197	TGTATATC others(76): Show TGTATATCTATATGTAACACACATACATATGTATATCTATATGTAACACA CATACATATGTATATCTATATGTAACACACATAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03834.hp1 HG02451.hp1 HG03834.hp1	a0002 a0006 a0002 a0006	a0002c0003 a0006c0021 a0002c0003 a0006c0021	a0002c0003t0003 a0006c0021t0044 a0002c0003t0003 a0006c0021t0044	a0002c0003t0003g0034 a0006c0021t0044g0055 a0002c0003t0003g0034 a0006c0021t0044g0055	2	244	0.0082	-83	c.894 others(100): Show c.894-7462_894-7380delGTATGTGTGTTACATATAGATATACATA TGTATGTGTGTTACATATAGATATACATATGTATGTGTGTTACATATAGA TATAC	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PAXBP1_chr21_32728899_32776755	32771889	AGAGAGAG others(76): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGCGAGAGAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	360	0.0028	-83	c.-30 others(92): Show c.-304_-222delCTCTCTCTCTCTCTCTCTCTCTCGCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		135		chr21	TogoVar
PCMT1_chr6_149744741_149816419	149762518	GATATATA others(76): Show GATATATATATCTATGATATATATATCTATGATATATATATATCTATGAT ATATATATCTATGATATATATATCTATGATATAT	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	334	0.0030	-83	c.56- others(98): Show c.56-8639_56-8557delATATATCTATGATATATATATCTATGATAT ATATATATCTATGATATATATATCTATGATATATATATCTATGATATATA TAT	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PCSK2_chr20_17222040_17489578	17303442	AATATATA others(76): Show AATATATATTATATTAAATATAATATATATTATATATAATATATATTATA TTTAATATAATATATATTATATATAATATAATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(27): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00642.hp2 HG01099.hp1 HG01123.hp1 HG01175.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp2 HG02895.hp1 HG02965.hp1 HG03017.hp1 HG03130.hp2 HG03654.hp2 HG03710.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19043.hp2 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0021 a0001c0001t0023 a0001c0001t0034 a0001c0001t0040 a0001c0001t0057 a0001c0001t0061 a0001c0002t0045 a0001c0002t0048 a0001c0013t0021	a0001c0001t0001g0025 a0001c0001t0001g0223 a0001c0001t0003g0001 others(27): Show a0001c0001t0001g0025 a0001c0001t0001g0223 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0079 a0001c0001t0003g0255 a0001c0001t0003g0269 a0001c0001t0006g0075 a0001c0001t0006g0076 a0001c0001t0006g0078 a0001c0001t0006g0080 a0001c0001t0006g0082 a0001c0001t0006g0098 a0001c0001t0006g0158 a0001c0001t0006g0238 a0001c0001t0009g0003 a0001c0001t0009g0097 a0001c0001t0011g0150 a0001c0001t0016g0088 a0001c0001t0016g0089 a0001c0001t0021g0219 a0001c0001t0023g0212 a0001c0001t0023g0213 a0001c0001t0034g0004 a0001c0001t0040g0256 a0001c0001t0057g0018 a0001c0001t0061g0093 a0001c0002t0045g0247 a0001c0002t0048g0127 a0001c0013t0021g0033	30	274	0.1095	-83	c.282 others(102): Show c.282+43103_282+43185delATATTATATTAAATATAATATATATT ATATATAATATATATTATATTTAATATAATATATATTATATATAATATAA TATATAT	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PDIA4_chr7_148998062_149033505	149027643	AAGTAGTT others(76): Show AAGTAGTTGTTACTATTCCTACTGGAGTACGCGCTTCATGGGCAGGGACC ACACTCACAATCTTTTCCTCCCAGAACCCAGTAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp2 HG03516.hp2 HG02257.hp2 HG02922.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0047 a0001c0001t0005g0019 a0001c0001t0005g0047	3	352	0.0085	-83	c.88+ others(96): Show c.88+595_88+677delGTACTGGGTTCTGGGAGGAAAAGATTGTGAGT GTGGTCCCTGCCCATGAAGCGCGTACTCCAGTAGGAATAGTAACAACTAC T	PDIA4	ENSG00000155660.11	transcript	ENST00000652332.1	protein_coding	1/9			chr7	TogoVar
PDZRN4_chr12_41183320_41579745	41402379	CACTGTGT others(76): Show CACTGTGTATATATATATATACACACAGTGTGTATATATATATATACACA CACAGTGTATATATATATATATACACACTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02897.hp2 HG03139.hp1 others(1): Show HG02559.hp2 HG02897.hp2 HG03139.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0084 a0001c0001t0001g0119 a0001c0001t0002g0155 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0119 a0001c0001t0002g0155 a0002c0002t0001g0087	4	206	0.0194	-83	c.844 others(104): Show c.844-104076_844-103994delACTGTGTATATATATATATACACA CAGTGTGTATATATATATATACACACACAGTGTATATATATATATATACA CACTCTGTG	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PERM1_chr1_970198_987093	977724	ACCGACCA others(76): Show ACCGACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCG CCTCCCAATCCCCCCAACCCCGGGAACTGCCTCC	A A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19066.hp1 NA19009.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0103 a0001c0001t0003g0001 a0001c0001t0003g0103	2	408	0.0049	-83	c.214 others(102): Show c.2149+1074_2150-1101delGGAGGCAGTTCCCGGGGTTGGGGGGA TTGGGAGGCGGTTCCCGGGGTTGGTGGGGGTGGGAGGCGGTTCCCGGGGT TGGTCGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PEX5_chr12_7184686_7216459	7196232	TTTAATTA others(76): Show TTTAATTATATGTCATATTTAATTATATATGTCATAATTTATATATGTCA TATATAATTTAATTATATGTCATATATAATTTAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	428	0.0023	-83	c.449 others(100): Show c.449-2775_449-2693delATTATATGTCATATTTAATTATATATGT CATAATTTATATATGTCATATATAATTTAATTATATGTCATATATAATTT AATTA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAP6_chr16_365788_386978	385568	CCCAAAAT others(76): Show CCCAAAATGCTGGGATTACAGGCATGAGCCACAGCGCCCGGCCTACTCTG ATTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG03654.hp1 HG03927.hp2 HG02683.hp2 HG03654.hp1 HG03927.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0159 a0003c0003t0001g0002 a0003c0003t0001g0159	3	376	0.0080	-83	c.-38 others(94): Show c.-3830_-3748delTTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAT CAGAGTAGGCCGGGCGCTGTGGCTCATGCCTGTAATCCCAGCATTTTGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		3591		chr16	TogoVar
PHF21B_chr22_44876162_45015005	45010930	ATGCCAAC others(76): Show ATGCCAACAGGTCACACATTGCTTTTGTTGGCAGAAGTTATTGGAATTCC CCCTTTTCTTTCTTTTCTTTTTTTTTTTTTTTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	300	0.0033	-83	c.-14 others(94): Show c.-1464_-1382delGAAAAAAAAAAAAAAAAGAAAAGAAAGAAAAGGG GGAATTCCAATAACTTCTGCCAACAAAAGCAATGTGTGACCTGTTGGCA	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding		926		chr22	TogoVar
PIWIL1_chr12_130332887_130377637	130338556	GGTCCCAG others(76): Show GGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAG GTGCGGGGGATGCAGGAGCCGGGTGCGGGGGCGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0016 a0005c0016t0016	a0005c0016t0016g0089 a0005c0016t0016g0089	1	425	0.0024	-83	c.-13 others(98): Show c.-13+412_-13+494delTCCCAGGTGTGGGAGATGCAGGAGCCGGGT GCGGGGGCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGGC GAG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLCL1_chr2_197799593_198154863	197866076	ATATATAT others(76): Show ATATATATATATAAACTATATATATATATAAACTATATATATATATAAAC TATATATATATATAAACTATATATATATATAAAC	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02615.hp2 HG03516.hp2 others(1): Show HG01515.hp1 HG02615.hp2 HG03516.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0002c0002 others(1): Show a0001c0004 a0001c0005 a0002c0002 a0002c0007	a0001c0004t0001 a0001c0005t0005 a0002c0002t0001 others(1): Show a0001c0004t0001 a0001c0005t0005 a0002c0002t0001 a0002c0007t0005	a0001c0004t0001g0126 a0001c0005t0005g0062 a0002c0002t0001g0114 others(1): Show a0001c0004t0001g0126 a0001c0005t0005g0062 a0002c0002t0001g0114 a0002c0007t0005g0003	4	204	0.0196	-83	c.240 others(102): Show c.240+60750_240+60832delAACTATATATATATATAAACTATATA TATATATAAACTATATATATATATAAACTATATATATATATAAACTATAT ATATATA	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCL1_chr2_197799593_198154863	197866110	ATATATAT others(76): Show ATATATATATATAAACTATATATATATATAAACTATATATATATATAAAC TATATATATATATAAACTATATATATATATAAAC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02886.hp1 HG03041.hp1 others(4): Show HG01168.hp2 HG02886.hp1 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03579.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0020 a0001c0001t0047 a0001c0006t0051 others(1): Show a0001c0001t0020 a0001c0001t0047 a0001c0006t0051 a0002c0002t0005	a0001c0001t0020g0056 a0001c0001t0020g0057 a0001c0001t0047g0055 others(4): Show a0001c0001t0020g0056 a0001c0001t0020g0057 a0001c0001t0047g0055 a0001c0006t0051g0054 a0002c0002t0005g0074 a0002c0002t0005g0127 a0002c0002t0005g0129	7	204	0.0343	-83	c.240 others(102): Show c.240+60784_240+60866delAACTATATATATATATAAACTATATA TATATATAAACTATATATATATATAAACTATATATATATATAAACTATAT ATATATA	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLEKHN1_chr1_961482_980865	977724	ACCGACCA others(76): Show ACCGACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCG CCTCCCAATCCCCCCAACCCCGGGAACTGCCTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0016 a0004c0004t0003g0016	1	422	0.0024	-83	c.31 others(94): Show c.3150_*3232delCCGACCAACCCCGGGAACCGCCTCCCACCCCCAC CAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1860		chr1	TogoVar
PLIN5_chr19_4517531_4540224	4525870	TACGGGGA others(76): Show TACGGGGACAGCACGGGGACAGGATACGGGGACAGCACGGGGACAGGATA CGGGGACAGCACGGGGACAGGATACGGGGACAGC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01074.hp1 others(9): Show HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01175.hp1 HG02055.hp2 HG02723.hp2 HG02738.hp2 HG03139.hp2 HG03516.hp1 HG04204.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0006 a0001c0001t0004g0247 a0001c0001t0004g0249 others(3): Show a0001c0001t0004g0006 a0001c0001t0004g0247 a0001c0001t0004g0249 a0001c0001t0004g0251 a0001c0001t0012g0248 a0001c0001t0012g0250	12	412	0.0291	-83	c.521 others(97): Show c.521-121_521-39delGCTGTCCCCGTATCCTGTCCCCGTGCTGTCC CCGTATCCTGTCCCCGTGCTGTCCCCGTATCCTGTCCCCGTGCTGTCCCC GT	PLIN5	ENSG00000214456.8	transcript	ENST00000381848.7	protein_coding	5/7			chr19	TogoVar
PLXNB2_chr22_50269979_50312646	50285159	TGGCCGGC others(76): Show TGGCCGGCACCCCTCCCTCCGTACCTTAGCCTGCCTGTCACCAACCGGCA CCCCCTCCCTCCGCACCTGAGCCTGCCTGTCACC	T T	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0055 a0003c0001t0001g0055	1	302	0.0033	-83	c.208 others(100): Show c.2088+558_2089-495delGGTGACAGGCAGGCTCAGGTGCGGAGGG AGGGGGTGCCGGTTGGTGACAGGCAGGCTAAGGTACGGAGGGAGGGGTGC CGGCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	11/36			chr22	TogoVar

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