Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MAEA_chr4_1284891_1345137	1334057	CCCACCCC others(91): Show CCCACCCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTACCG TGCTCACCCCCATGCCCACCCCATGCCCACCATGTGCTCACCCCTGCAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA20905.hp2 HG00741.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0342 a0001c0001t0001g0319 a0001c0001t0001g0342	2	358	0.0056	-98	c.765 others(115): Show c.765+1207_765+1304delGTGTGCTCACCCCTGCACCCATCCCATG CCTACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTGCTCACCC CTGCATCCACCCCCATGCCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGI2_chr7_78012055_79458667	79135970	AGAAAGAA others(91): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA AGAAAGAAGGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0021 a0001c0010t0002g0021	1	40	0.0250	-98	c.302 others(119): Show c.302-128862_302-128765delCTTCTTTCTTTCTTTCTTTCCTTC TTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTC	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAPK9_chr5_180228143_180297083	180296757	ACACACAC others(91): Show ACACACACACACACACACAAGGAAGTACAACACACACGTAAGAAAGTACA CACACGGAAGTACTTACCCCCCCCCCCACACACACACGGAAGTACTTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02630.hp1 NA19011.hp1 HG02258.hp1 HG02630.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0032 a0001c0001t0002 a0001c0001t0005 a0001c0001t0032	a0001c0001t0002g0084 a0001c0001t0005g0306 a0001c0001t0032g0111 a0001c0001t0002g0084 a0001c0001t0005g0306 a0001c0001t0032g0111	3	370	0.0081	-98	c.-50 others(109): Show c.-5055_-4958delGTAAGTACTTCCGTGTGTGTGTGGGGGGGGGGGT AAGTACTTCCGTGTGTGTACTTTCTTACGTGTGTGTTGTACTTCCTTGTG TGTGTGTGTGTGTG	MAPK9	ENSG00000050748.18	transcript	ENST00000452135.7	protein_coding		4675		chr5	TogoVar
MAPK9_chr5_180228143_180297083	180296857	ACACACAC others(91): Show ACACACACACACACACACACACACAAGGAAGTACAACACACACGTAAGGA AGTACACACACGGAAGTACCCCCCCACACACACACACGGAAGTACTTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0291 a0001c0001t0026g0291	1	370	0.0027	-98	c.-51 others(109): Show c.-5155_-5058delGTAAGTACTTCCGTGTGTGTGTGTGGGGGGGTAC TTCCGTGTGTGTACTTCCTTACGTGTGTGTTGTACTTCCTTGTGTGTGTG TGTGTGTGTGTGTG	MAPK9	ENSG00000050748.18	transcript	ENST00000452135.7	protein_coding		4775		chr5	TogoVar
MELK_chr9_36567895_36682682	36615286	AGGCGGGG others(91): Show AGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGTCGGCACGGCTGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG02809.hp1 others(6): Show HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03209.hp1 HG03453.hp1 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0225 a0002c0003t0003g0226 a0002c0003t0003g0227 others(6): Show a0002c0003t0003g0225 a0002c0003t0003g0226 a0002c0003t0003g0227 a0002c0003t0003g0228 a0002c0003t0003g0229 a0002c0003t0003g0230 a0002c0003t0003g0231 a0002c0003t0003g0232 a0002c0003t0003g0233	9	240	0.0375	-98	c.666 others(115): Show c.666+7627_666+7724delTCCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGTCGGCACGG CTGGCCGGGCGGGGGGCTGA	MELK	ENSG00000165304.8	transcript	ENST00000298048.7	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
METAP1D_chr2_171994953_172087430	172042416	CATGTGTA others(91): Show CATGTGTACATATATACATATGTATGTGTACATGCGTACATATATACATA TATACATATGTGTGTGTACATGTGTACATATATACATATATACATATGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp1 HG02647.hp1 others(5): Show HG02145.hp2 HG02615.hp1 HG02647.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03225.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0118 a0001c0001t0002g0001 a0001c0001t0002g0117 others(4): Show a0001c0001t0001g0118 a0001c0001t0002g0001 a0001c0001t0002g0117 a0001c0001t0003g0128 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0169	8	354	0.0226	-98	c.41- others(115): Show c.41-19071_41-18974delATATACATATGTATGTGTACATGCGTAC ATATATACATATATACATATGTGTGTGTACATGTGTACATATATACATAT ATACATATGTATGTGTACAT	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
METTL26_chr16_629430_641305	631789	ACTCCTCC others(91): Show ACTCCTCCCATCCACTTCTTCCATCCTCTTCTCCCACCCCGTCACTGCCT CTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCACTTCTTCCATCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02630.hp1 HG02451.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0007 a0001c0001t0001g0026	2	402	0.0050	-98	c.27 others(109): Show c.2710_*2807delAGGATGGAAGAAGTGGATGGGAGGAGTGGATAGG AGAGGATGGAAGGAGAGGCAGTGACGGGGTGGGAGAAGAGGATGGAAGAA GTGGATGGGAGGAG	METTL26	ENSG00000130731.16	transcript	ENST00000301686.13	protein_coding		2640		chr16	TogoVar
MISP_chr19_746112_769318	754885	TTGGAGGA others(91): Show TTGGAGGAAGAGGGCCTGGTTTGGGTGGAAGAGGAGGGTCTGGTTTGGGT GGAAGAGGAGGGTCTGGTTTGGGGTGGAAGAGGAGGGCCTGGCTTGGGG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02148.hp2 HG00735.hp2 HG02148.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0018c0044 a0001c0001 a0018c0044	a0001c0001t0001 a0018c0044t0003 a0001c0001t0001 a0018c0044t0003	a0001c0001t0001g0179 a0018c0044t0003g0178 a0001c0001t0001g0179 a0018c0044t0003g0178	2	430	0.0047	-98	c.-57 others(115): Show c.-57-1980_-57-1883delTGGAAGAGGAGGGTCTGGTTTGGGTGGA AGAGGAGGGTCTGGTTTGGGGTGGAAGAGGAGGGCCTGGCTTGGGGTGGA GGAAGAGGGCCTGGTTTGGG	MISP	ENSG00000099812.9	transcript	ENST00000215582.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
MROH6_chr8_143561192_143577772	143569090	GGGCGGAG others(91): Show GGGCGGAGCCTGGGAGGTCAGGGCCTGGGAGGGACAGACTGACAGACTGG GGGGCGGGGCATGGGAAGGAGAAACTAGAGGGGCGGGCGGGGCCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03139.hp1 HG02257.hp2 HG03139.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0036 a0003c0003t0001g0036	2	436	0.0046	-98	c.147 others(115): Show c.1476+253_1476+350delTCCCAGGCCCCGCCCGCCCCTCTAGTTT CTCCTTCCCATGCCCCGCCCCCCAGTCTGTCAGTCTGTCCCTCCCAGGCC CTGACCTCCCAGGCTCCGCC	MROH6	ENSG00000204839.9	transcript	ENST00000398882.8	protein_coding	9/13			chr8	TogoVar
MTUS2_chr13_28815339_29510947	29375515	CTATATAT others(91): Show CTATATATATATATATATATATACGTGTATATATATATATATACGTATAT ATATATATACATATATATATATACGTATATATATATATATATACGTATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01346.hp1 others(3): Show HG00140.hp2 HG00735.hp2 HG01346.hp1 HG01978.hp1 HG03139.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0056 others(3): Show a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0085 a0001c0001t0002g0079 a0001c0001t0003g0091	6	74	0.0811	-98	c.311 others(119): Show c.3117+16065_3117+16162delCGTGTATATATATATATATACGTA TATATATATATACATATATATATATACGTATATATATATATATATACGTA TATATATATATATATATATATATA	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYL10_chr7_101608330_101634296	101609674	TTCCTCCC others(91): Show TTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02647.hp2 HG02258.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0165 a0001c0001t0001g0071 a0001c0001t0001g0165	2	396	0.0051	-98	c.37 others(109): Show c.3703_*3800delGGAGGGAGGAAGGGAGGGAGGGAGGAAGGCAGGG AGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAG GGAGGAAGGGAGGA	MYL10	ENSG00000106436.8	transcript	ENST00000223167.5	protein_coding		3655		chr7	TogoVar
MYO1H_chr12_109342900_109453379	109357663	ACCATTTC others(91): Show ACCATTTCTCATGCCATGAAATACTATTCTCTTGATTTTTTTTCTCCCAA CCATTTCTCATGCCATGAAATACTATTCTCTTGATTTTTTTTCTCCCAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(174): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19004.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19074.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011	a0001c0003 a0001c0004 a0001c0005 others(18): Show a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0001c0016 a0001c0018 a0001c0019 a0001c0021 a0001c0028 a0002c0001 a0002c0013 a0002c0027 a0003c0002 a0004c0009 a0004c0014 a0005c0007 a0006c0008 a0007c0010 a0008c0011 a0011c0020	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(35): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0008 a0001c0004t0001 a0001c0004t0009 a0001c0004t0014 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0005 a0001c0006t0001 a0001c0006t0005 a0001c0012t0001 a0001c0016t0001 a0001c0016t0002 a0001c0018t0011 a0001c0019t0001 a0001c0021t0007 a0001c0028t0006 a0002c0001t0001 a0002c0013t0001 a0002c0027t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0010 a0003c0002t0015 a0004c0009t0003 a0004c0014t0003 a0005c0007t0001 a0005c0007t0003 a0006c0008t0001 a0006c0008t0004 a0007c0010t0002 a0008c0011t0001 a0008c0011t0003 a0011c0020t0013	a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0003 others(173): Show a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0003 a0001c0003t0001g0066 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0110 a0001c0003t0001g0113 a0001c0003t0001g0225 a0001c0003t0001g0248 a0001c0003t0001g0254 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0263 a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0279 a0001c0003t0001g0284 a0001c0003t0001g0296 a0001c0003t0001g0299 a0001c0003t0001g0305 a0001c0003t0001g0310 a0001c0003t0002g0250 a0001c0003t0002g0252 a0001c0003t0002g0253 a0001c0003t0002g0264 a0001c0003t0002g0268 a0001c0003t0002g0277 a0001c0003t0002g0278 a0001c0003t0002g0280 a0001c0003t0002g0281 a0001c0003t0002g0292 a0001c0003t0002g0311 a0001c0003t0004g0108 a0001c0003t0006g0089 a0001c0003t0006g0090 a0001c0003t0006g0201 a0001c0003t0006g0202 a0001c0003t0006g0203 a0001c0003t0008g0105 a0001c0003t0008g0197 a0001c0004t0001g0088 a0001c0004t0001g0135 a0001c0004t0009g0272 a0001c0004t0014g0199 a0001c0005t0001g0037 a0001c0005t0001g0251 a0001c0005t0001g0306 a0001c0005t0002g0020 a0001c0005t0002g0247 a0001c0005t0003g0004 a0001c0005t0003g0011 a0001c0005t0003g0012 a0001c0005t0003g0015 a0001c0005t0003g0016 a0001c0005t0003g0017 a0001c0005t0003g0021 a0001c0005t0003g0022 a0001c0005t0003g0072 a0001c0005t0003g0093 a0001c0005t0003g0094 a0001c0005t0003g0096 a0001c0005t0003g0097 a0001c0005t0003g0098 a0001c0005t0003g0195 a0001c0005t0003g0196 a0001c0005t0005g0013 a0001c0006t0001g0286 a0001c0006t0001g0287 a0001c0006t0001g0288 a0001c0006t0001g0290 a0001c0006t0001g0291 a0001c0006t0001g0301 a0001c0006t0001g0302 a0001c0006t0005g0285 a0001c0006t0005g0293 a0001c0006t0005g0297 a0001c0006t0005g0298 a0001c0006t0005g0300 a0001c0006t0005g0304 a0001c0006t0005g0307 a0001c0006t0005g0308 a0001c0006t0005g0309 a0001c0012t0001g0055 a0001c0012t0001g0056 a0001c0012t0001g0057 a0001c0016t0001g0295 a0001c0016t0002g0071 a0001c0018t0011g0303 a0001c0019t0001g0233 a0001c0021t0007g0289 a0001c0028t0006g0294 a0002c0001t0001g0191 a0002c0013t0001g0102 a0002c0013t0001g0111 a0002c0027t0001g0060 a0003c0002t0001g0073 a0003c0002t0002g0005 a0003c0002t0002g0007 a0003c0002t0002g0010 a0003c0002t0002g0019 a0003c0002t0002g0024 a0003c0002t0002g0025 a0003c0002t0002g0026 a0003c0002t0002g0032 a0003c0002t0002g0033 a0003c0002t0002g0034 a0003c0002t0002g0035 a0003c0002t0002g0036 a0003c0002t0002g0038 a0003c0002t0002g0039 a0003c0002t0002g0040 a0003c0002t0002g0044 a0003c0002t0002g0045 a0003c0002t0002g0049 a0003c0002t0002g0050 a0003c0002t0002g0051 a0003c0002t0002g0052 a0003c0002t0002g0053 a0003c0002t0002g0058 a0003c0002t0002g0059 a0003c0002t0002g0063 a0003c0002t0002g0065 a0003c0002t0002g0070 a0003c0002t0002g0074 a0003c0002t0002g0077 a0003c0002t0002g0078 a0003c0002t0002g0079 a0003c0002t0002g0080 a0003c0002t0002g0081 a0003c0002t0002g0082 a0003c0002t0002g0083 a0003c0002t0002g0084 a0003c0002t0002g0086 a0003c0002t0002g0087 a0003c0002t0002g0091 a0003c0002t0002g0092 a0003c0002t0002g0101 a0003c0002t0002g0193 a0003c0002t0002g0194 a0003c0002t0002g0246 a0003c0002t0002g0255 a0003c0002t0002g0256 a0003c0002t0002g0258 a0003c0002t0002g0273 a0003c0002t0002g0274 a0003c0002t0002g0275 a0003c0002t0010g0047 a0003c0002t0015g0006 a0004c0009t0003g0112 a0004c0014t0003g0104 a0004c0014t0003g0109 a0005c0007t0001g0043 a0005c0007t0001g0046 a0005c0007t0001g0048 a0005c0007t0001g0054 a0005c0007t0001g0076 a0005c0007t0001g0085 a0005c0007t0001g0257 a0005c0007t0003g0075 a0006c0008t0001g0031 a0006c0008t0001g0041 a0006c0008t0001g0042 a0006c0008t0001g0061 a0006c0008t0001g0062 a0006c0008t0004g0283 a0007c0010t0002g0095 a0008c0011t0001g0023 a0008c0011t0003g0014 a0008c0011t0003g0018 a0011c0020t0013g0249	177	310	0.5710	-98	c.12+ others(113): Show c.12+9789_12+9886delGCCATTTCTCATGCCATGAAATACTATTCT CTTGATTTTTTTTCTCCCAACCATTTCTCATGCCATGAAATACTATTCTC TTGATTTTTTTTCTCCCA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYOM2_chr8_2040046_2150456	2086175	GTGGCCCC others(91): Show GTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTCATGATCTCTTT GTGGCCCCCCACTGTTGTGATCTTTGCGTGGCCCCACTGTCATGATCTC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0001 a0001c0039t0001	a0001c0039t0001g0012 a0001c0039t0001g0012	1	396	0.0025	-98	c.164 others(115): Show c.1644+790_1644+887delCCCACTGTCATGATCTCTGCGTGGCCCC ACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCTTTGCGTGGCC CCACTGTCATGATCTCTGGC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086180	CCCACTGT others(91): Show CCCACTGTCATGATCTCTGCGTGGCCCCACTGTCATGATCTCTTTGTGGC CCCCCACTGTTGTGATCTTTGCGTGGCCCCACTGTCATGATCTCTGGCA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02735.hp2 NA18951.hp1 others(1): Show HG00738.hp2 HG02735.hp2 NA18951.hp1 NA18971.hp1	a0003 a0004 a0027 others(1): Show a0003 a0004 a0027 a0079	a0003c0001 a0004c0007 a0027c0055 others(1): Show a0003c0001 a0004c0007 a0027c0055 a0079c0186	a0003c0001t0001 a0004c0007t0001 a0027c0055t0001 others(1): Show a0003c0001t0001 a0004c0007t0001 a0027c0055t0001 a0079c0186t0001	a0003c0001t0001g0109 a0004c0007t0001g0336 a0027c0055t0001g0170 others(1): Show a0003c0001t0001g0109 a0004c0007t0001g0336 a0027c0055t0001g0170 a0079c0186t0001g0057	4	367	0.0109	-98	c.164 others(115): Show c.1644+793_1644+890delACTGTCATGATCTCTGCGTGGCCCCACT GTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCTTTGCGTGGCCCCA CTGTCATGATCTCTGGCACC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1L_chr2_1784113_2336275	2307749	ACTCTCTC others(91): Show ACTCTCTCTATATTCCACCTATGCTTCAGTACACTCTATCTATACTCCAC CCATGTTTCAGTACACTCTATCTATACTCCACCTATACTTCAGTACTCT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02897.hp2 HG03486.hp1 HG02257.hp2 HG02897.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0026 a0001c0001 a0001c0004 a0001c0026	a0001c0001t0001 a0001c0004t0012 a0001c0026t0004 a0001c0001t0001 a0001c0004t0012 a0001c0026t0004	a0001c0001t0001g0079 a0001c0004t0012g0044 a0001c0026t0004g0019 a0001c0001t0001g0079 a0001c0004t0012g0044 a0001c0026t0004g0019	3	102	0.0294	-98	c.-52 others(119): Show c.-521+23120_-521+23217delAGAGTACTGAAGTATAGGTGGAGT ATAGATAGAGTGTACTGAAACATGGGTGGAGTATAGATAGAGTGTACTGA AGCATAGGTGGAATATAGAGAGAG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	1/24			chr2	TogoVar
N4BP1_chr16_48533726_48615180	48604548	CCAAAGCT others(91): Show CCAAAGCTCAGGTCAAAAAAACAAAACAAACAAACAAAAAAAAACAAAAA AAGGTAAAAAAAAAAACAAAAACAAAAACTAAATTAAAACAAAACGAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02486.hp2 others(6): Show HG02055.hp2 HG02258.hp2 HG02486.hp2 HG02647.hp1 HG02922.hp2 HG03195.hp2 HG03225.hp2 HG03516.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0009 a0001c0002t0004g0031 a0001c0002t0004g0032 others(5): Show a0001c0002t0004g0009 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0238	9	322	0.0280	-98	c.198 others(115): Show c.198+5129_198+5226delTTTCGTTTTGTTTTAATTTAGTTTTTGT TTTTGTTTTTTTTTTTACCTTTTTTTGTTTTTTTTTGTTTGTTTGTTTTG TTTTTTTGACCTGAGCTTTG	N4BP1	ENSG00000102921.8	transcript	ENST00000262384.4	protein_coding	1/6			chr16	TogoVar
NCOR2_chr12_124319415_124572612	124323082	TAATACCC others(91): Show TAATACCCAACACCCTCACCCTGTGTATATGTGACACTCTTGCCATGAGT GTGAACACCTAACATCCTCACGAGTGTGAATACCTGACACATGGGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0021 a0001c0003t0016g0021	1	225	0.0044	-98	c.22 others(109): Show c.2222_*2319delCACACCCATGTGTCAGGTATTCACACTCGTGAGG ATGTTAGGTGTTCACACTCATGGCAAGAGTGTCACATATACACAGGGTGA GGGTGTTGGGTATT	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding		1332		chr12	TogoVar
NDUFA10_chr2_239952372_240030342	239954147	CGACGGTC others(91): Show CGACGGTCAGGCTGTGACTGCCTCAGGGCTGTGAGACTGGGTGCCACCTG CCAGGCCAGCTGAGTGACCACCCCAGGACTGTGAGAGTGGGTTCCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01243.hp2 others(12): Show HG00642.hp1 HG00741.hp1 HG01243.hp2 HG01346.hp1 HG02080.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02559.hp2 HG02615.hp1 HG02895.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0025 a0001c0001t0040 a0001c0001t0048 others(4): Show a0001c0001t0025 a0001c0001t0040 a0001c0001t0048 a0001c0002t0009 a0001c0003t0001 a0001c0006t0018 a0001c0006t0026	a0001c0001t0025g0054 a0001c0001t0025g0055 a0001c0001t0040g0158 others(11): Show a0001c0001t0025g0054 a0001c0001t0025g0055 a0001c0001t0040g0158 a0001c0001t0048g0172 a0001c0002t0009g0311 a0001c0003t0001g0023 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0006t0018g0042 a0001c0006t0018g0043 a0001c0006t0018g0044 a0001c0006t0026g0048 a0001c0006t0026g0049	15	410	0.0366	-98	c.68 others(109): Show c.6873_*6970delAGGGGGAACCCACTCTCACAGTCCTGGGGTGGTC ACTCAGCTGGCCTGGCAGGTGGCACCCAGTCTCACAGCCCTGAGGCAGTC ACAGCCTGACCGTC	NDUFA10	ENSG00000130414.13	transcript	ENST00000252711.7	protein_coding		3224		chr2	TogoVar
NDUFAF1_chr15_41382353_41407496	41382566	CCCCCCCG others(91): Show CCCCCCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	346	0.0029	-98	c.47 others(109): Show c.4780_*4877delCTGACCCCCCCACCTCCCTCCCGGACGGCACGGC TGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCT GGCCGGGCGGGGGG	NDUFAF1	ENSG00000137806.10	transcript	ENST00000260361.9	protein_coding		4786		chr15	TogoVar
NDUFAF1_chr15_41382353_41407496	41383101	TGCCCGGC others(91): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	350	0.0029	-98	c.42 others(109): Show c.4245_*4342delGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGC	NDUFAF1	ENSG00000137806.10	transcript	ENST00000260361.9	protein_coding		4251		chr15	TogoVar
NFATC1_chr18_79390930_79534323	79525227	CCTCCCCA others(91): Show CCTCCCCACGTCCCACCGTCGTTACCCCTCAGTCCTCCCCACGTCCCACC GTCGTTACCTCTCAGTCCTCCCCACGTCCCACCGTCGTTACCCCTCAGT	C C	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0280 a0001c0001t0035g0280	1	320	0.0031	-98	c.278 others(117): Show c.2783-2299_2783-2202delTCCCCACGTCCCACCGTCGTTACCCC TCAGTCCTCCCCACGTCCCACCGTCGTTACCTCTCAGTCCTCCCCACGTC CCACCGTCGTTACCCCTCAGTC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79525362	CCCCACGT others(91): Show CCCCACGTCCCACCGTCGTTACCCCTCAGTCCTCCCCACGTCCCACCGTC GTTACCTCTCAGTCCTCCCCACGTCCCACCGTCGTTACCCCTCAGTCCT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0077 a0001c0008t0002g0077	1	320	0.0031	-98	c.278 others(117): Show c.2783-2162_2783-2065delACGTCCCACCGTCGTTACCCCTCAGT CCTCCCCACGTCCCACCGTCGTTACCTCTCAGTCCTCCCCACGTCCCACC GTCGTTACCCCTCAGTCCTCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NGEF_chr2_232873701_233018256	232900470	ACACACAC others(91): Show ACACACACGCTCTCACAGTCACTCATATACACGTTCACTCACATTCACTT AGACACATGCTCTCACAGTCACTCATATACACGTTCACTCACATTCACT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0016	a0001c0005t0016g0323 a0001c0005t0016g0323	1	360	0.0028	-98	c.829 others(115): Show c.829-5652_829-5555delAGTGAATGTGAGTGAACGTGTATATGAG TGACTGTGAGAGCATGTGTCTAAGTGAATGTGAGTGAACGTGTATATGAG TGACTGTGAGAGCGTGTGTG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232906093	TCAGCCGT others(91): Show TCAGCCGTCCCGTCTGGGAGGGAGGTGGGGGTCTCAGCCCCCCGCCCGGC CACCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0150 a0001c0003t0002g0150	1	359	0.0028	-98	c.829 others(117): Show c.829-11275_829-11178delGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGGTGGCCGGGCGGGGGGCTGAGACCCCCACC TCCCTCCCAGACGGGACGGCTG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NPBWR2_chr20_64098802_64112565	64104581	GCAGGGGA others(91): Show GCAGGGGAGCACAGGCCATGGAGAGGACCGTCGGCCACAGCAGGGGAGTA TAGGGGAGCACAGGCCATGGAGAGGACCGTCAGACACAGCAGGGGGGTA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00597.hp1 others(27): Show HG00280.hp1 HG00323.hp1 HG00597.hp1 HG00639.hp1 HG00735.hp1 HG01074.hp2 HG01099.hp1 HG01167.hp1 HG01256.hp1 HG01496.hp2 HG02040.hp1 HG02074.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02523.hp1 HG02698.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp1 NA18612.hp2 NA18952.hp1 NA18981.hp1 NA19054.hp2 NA19068.hp2 NA19080.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0002c0006 a0001c0005 a0002c0003 a0002c0006	a0001c0005t0005 a0002c0003t0005 a0002c0003t0015 others(4): Show a0001c0005t0005 a0002c0003t0005 a0002c0003t0015 a0002c0003t0034 a0002c0003t0085 a0002c0003t0087 a0002c0006t0084	a0001c0005t0005g0038 a0002c0003t0005g0005 a0002c0003t0005g0013 others(5): Show a0001c0005t0005g0038 a0002c0003t0005g0005 a0002c0003t0005g0013 a0002c0003t0015g0018 a0002c0003t0034g0039 a0002c0003t0085g0093 a0002c0003t0087g0095 a0002c0006t0084g0094	30	333	0.0901	-98	c.11 others(109): Show c.1151_*1248delTACCCCCCTGCTGTGTCTGACGGTCCTCTCCATG GCCTGTGCTCCCCTATACTCCCCTGCTGTGGCCGACGGTCCTCTCCATGG CCTGTGCTCCCCTG	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	1151		chr20	TogoVar
NPHP4_chr1_5857811_5997425	5884448	GACAACCA others(91): Show GACAACCAAGATCACTGCCCAAGCTCCCAGCCGAGCCCCCGTCCTACTCC ACAACCAAGATCACTGCCCAAGCTCCCAGCCGAGCCCCCGTCCTACTCC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03471.hp1 HG02886.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0045 a0001c0003t0001g0046	2	105	0.0190	-98	c.248 others(117): Show c.2485+2740_2485+2837delGGAGTAGGACGGGGGCTCGGCTGGGA GCTTGGGCAGTGATCTTGGTTGTGGAGTAGGACGGGGGCTCGGCTGGGAG CTTGGGCAGTGATCTTGGTTGT	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	18/29			chr1	TogoVar
NRIP1_chr21_14956235_15070000	15030944	CAGAGGAT others(91): Show CAGAGGATCACCACATTCCCTTTCTATGTGTGTACACTCTGGAAGGTGTT CAGAGGTTCACCACATTCCCTTTCTATGTGTATACTCTGGAAGGCGGTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0048 a0009c0017t0048	a0009c0017t0048g0229 a0009c0017t0048g0229	1	394	0.0025	-98	c.-45 others(119): Show c.-458+12453_-458+12550delAACCGCCTTCCAGAGTATACACAT AGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAGTGTACACACAT AGAAAGGGAATGTGGTGATCCTCT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NTM_chr11_131365615_132341822	131928562	ATGGTCTC others(91): Show ATGGTCTCCCGTCTGTGTTTTGTCCCACTGCAAACTCTGTTTGTTTTCTG TGGTCTCCCGTCTGTGTTTTGTCCCACTGCAAACTCTGTTTGTTTTCTG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02602.hp1 HG03130.hp2 others(2): Show HG01071.hp2 HG02602.hp1 HG03130.hp2 HG03471.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0002t0003	a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0003g0032 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0003g0032 a0001c0001t0014g0080 a0001c0002t0003g0041	5	80	0.0625	-98	c.167 others(117): Show c.167+16999_167+17096delCTGTTTGTTTTCTGTGGTCTCCCGTC TGTGTTTTGTCCCACTGCAAACTCTGTTTGTTTTCTGTGGTCTCCCGTCT GTGTTTTGTCCCACTGCAAACT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUCB2_chr11_17271739_17337211	17332777	ATCATAGC others(91): Show ATCATAGCTTACTGCAGCCTTGAACTTCTGGGCTCAAGTGATCCTTCCAC CTCAGTCCCCCTAGTAGCTAGGACTACAGGCACATGCCACGAACGCCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	358	0.0028	-98	c.13 others(109): Show c.1359_*1456delTCATAGCTTACTGCAGCCTTGAACTTCTGGGCTC AAGTGATCCTTCCACCTCAGTCCCCCTAGTAGCTAGGACTACAGGCACAT GCCACGAACGCCTG	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding		567		chr11	TogoVar
NUSAP1_chr15_41327881_41386046	41382566	CCCCCCCG others(91): Show CCCCCCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	284	0.0035	-98	c.23 others(109): Show c.2381_*2478delCCCCCCGCCCGGCCAGCCGTGCCATCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGA GGTGGGGGGGTCAG	NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding		1521		chr15	TogoVar
NUSAP1_chr15_41327881_41386046	41383101	TGCCCGGC others(91): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	288	0.0035	-98	c.29 others(109): Show c.2916_*3013delGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCC	NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding		2056		chr15	TogoVar
OGFOD3_chr17_82384210_82423586	82396249	CAGATGTA others(91): Show CAGATGTATGACATCAAATCGCAGGTAAACACATAGATACACACAATTAG ACAGATGTACGACATCAAATCACAGGTAAACACATAGATACACACAATT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(51): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01978.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03453.hp1 HG03490.hp2 HG03492.hp2 HG03688.hp1 HG03942.hp1 HG04184.hp1 NA18906.hp1 NA18906.hp2 NA20129.hp1 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0007 a0004c0020	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(12): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0002t0003 a0001c0002t0006 a0001c0002t0027 a0001c0006t0003 a0002c0007t0003 a0004c0020t0003	a0001c0001t0003g0016 a0001c0001t0003g0172 a0001c0001t0003g0185 others(49): Show a0001c0001t0003g0016 a0001c0001t0003g0172 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0257 a0001c0001t0003g0278 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0300 a0001c0001t0004g0015 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0214 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0006g0025 a0001c0001t0006g0057 a0001c0001t0006g0254 a0001c0001t0007g0023 a0001c0001t0007g0024 a0001c0001t0007g0039 a0001c0001t0007g0040 a0001c0001t0007g0041 a0001c0001t0007g0312 a0001c0001t0015g0301 a0001c0001t0015g0310 a0001c0001t0036g0217 a0001c0001t0037g0046 a0001c0001t0038g0166 a0001c0001t0039g0192 a0001c0002t0003g0118 a0001c0002t0006g0018 a0001c0002t0006g0021 a0001c0002t0006g0090 a0001c0002t0027g0097 a0001c0006t0003g0170 a0002c0007t0003g0051 a0002c0007t0003g0052 a0002c0007t0003g0053 a0002c0007t0003g0058 a0002c0007t0003g0135 a0002c0007t0003g0136 a0004c0020t0003g0187	54	346	0.1561	-98	c.823 others(115): Show c.823+1849_823+1946delAATTGTGTGTATCTATGTGTTTACCTGT GATTTGATGTCGTACATCTGTCTAATTGTGTGTATCTATGTGTTTACCTG CGATTTGATGTCATACATCT	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding	8/8			chr17	TogoVar
OPRL1_chr20_64075082_64105633	64104581	GCAGGGGA others(91): Show GCAGGGGAGCACAGGCCATGGAGAGGACCGTCGGCCACAGCAGGGGAGTA TAGGGGAGCACAGGCCATGGAGAGGACCGTCAGACACAGCAGGGGGGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01167.hp2 HG01169.hp2 others(7): Show HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01496.hp2 HG02074.hp1 HG02165.hp1 HG02165.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0021	a0001c0001t0002g0038 a0001c0001t0003g0002 a0001c0001t0003g0009 others(5): Show a0001c0001t0002g0038 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0016g0009 a0001c0001t0021g0015	10	64	0.1563	-98	c.57 others(109): Show c.5783_*5880delCAGGGGAGCACAGGCCATGGAGAGGACCGTCGGC CACAGCAGGGGAGTATAGGGGAGCACAGGCCATGGAGAGGACCGTCAGAC ACAGCAGGGGGGTA	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding		3949		chr20	TogoVar
OR10H4_chr19_15944008_15954958	15950591	ATATACAT others(91): Show ATATACATATATATGTATACATATATATATACATACATATGTATACATAT ATACATATATATATATACATACATATGTATACATATATACATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp2 others(77): Show HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00639.hp2 HG00741.hp2 HG01069.hp2 HG01168.hp2 HG01175.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG01978.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18960.hp1 NA18981.hp2 NA18989.hp1 NA19002.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19077.hp2 NA19082.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0012 a0002 a0003 a0012	a0002c0002 a0002c0004 a0002c0014 others(2): Show a0002c0002 a0002c0004 a0002c0014 a0003c0003 a0012c0013	a0002c0002t0001 a0002c0004t0001 a0002c0014t0001 others(2): Show a0002c0002t0001 a0002c0004t0001 a0002c0014t0001 a0003c0003t0001 a0012c0013t0001	a0002c0002t0001g0000 a0002c0004t0001g0000 a0002c0014t0001g0000 others(2): Show a0002c0002t0001g0000 a0002c0004t0001g0000 a0002c0014t0001g0000 a0003c0003t0001g0000 a0012c0013t0001g0000	80	402	0.1990	-98	c.63 others(107): Show c.634_*731delTATACATATATATGTATACATATATATATACATACA TATGTATACATATATACATATATATATATACATACATATGTATACATATA TACATATATATG	OR10H4	ENSG00000176231.2	transcript	ENST00000322107.1	protein_coding		634		chr19	TogoVar
OSBPL5_chr11_3082107_3170310	3103735	TGCCTCTG others(91): Show TGCCTCTGCAACCCTCTTCCAGCTCTGCAGCCCCCTTCCAGCCTCTGCAG TCCCTTCCTGCCTCTGCAGCCCTCTTCCTGCCTGCGCAGCCCCCTTCCA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG01099.hp2 others(18): Show HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG03130.hp2 HG03195.hp1 HG03453.hp1 HG03486.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0037 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0021 a0001c0004t0001 a0001c0005t0003 a0002c0003t0003	a0001c0001t0001g0010 a0001c0001t0001g0143 a0001c0001t0001g0149 others(17): Show a0001c0001t0001g0010 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0005g0004 a0001c0001t0005g0022 a0001c0001t0005g0055 a0001c0001t0005g0282 a0001c0001t0007g0062 a0001c0001t0007g0155 a0001c0001t0037g0119 a0001c0002t0002g0276 a0001c0002t0004g0156 a0001c0002t0008g0217 a0001c0002t0021g0185 a0001c0004t0001g0039 a0001c0004t0001g0040 a0001c0004t0001g0041 a0001c0004t0001g0043 a0001c0005t0003g0066 a0002c0003t0003g0098	21	305	0.0689	-98	c.124 others(115): Show c.1244+360_1245-416delTGGAAGGGGGCTGCGCAGGCAGGAAGAG GGCTGCAGAGGCAGGAAGGGACTGCAGAGGCTGGAAGGGGGCTGCAGAGC TGGAAGAGGGTTGCAGAGGC	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21			chr11	TogoVar
OSMR_chr5_38841012_38940641	38861883	CCACCTCC others(91): Show CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCACCCGGACGGGGTGGCTGGCCGGGCGGGGGACTGACCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0331 a0001c0001t0010g0331	1	347	0.0029	-98	c.-13 others(115): Show c.-13-7115_-13-7018delGGGGGGCTGACCCCCCCACCTCCCACCC GGACGGGGTGGCTGGCCGGGCGGGGGACTGACCCCCTCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGC	OSMR	ENSG00000145623.13	transcript	ENST00000274276.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
OSTF1_chr9_75083514_75152265	75128483	TATATATA others(91): Show TATATATATATATTTTGTCCATATATATATATATATATTTTGTCCATATA TATATATATATATTTTGTCCATATATATATATATATATATATTTTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp2 HG03471.hp2 HG02451.hp2 HG02717.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0312 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0312	3	364	0.0082	-98	c.132 others(113): Show c.132+877_132+974delTTTGTCCATATATATATATATATATTTTGT CCATATATATATATATATATTTTGTCCATATATATATATATATATATATT TTGTCCATATATATATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTUD7A_chr15_31470398_31875673	31510761	CATATGTA others(91): Show CATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATA CATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0072	1	205	0.0049	-98	c.894 others(115): Show c.894-7041_894-6944delATGTTACATATAGATATACATATGTATG TTACATATAGATATACATATGTATGTTACATATAGATATACATATGTATG TTACATATAGATATACATAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PACS2_chr14_105309748_105403147	105330079	AGGAACGG others(91): Show AGGAACGGGGACAGGGAGCCTCCGAGAAGCCTGGGGTCCGTGTGTGGGAA GGAACGGGGACAGGGAGCCTCCGAGAAGCCTGGGGTCCGTGTGTGGGAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA19030.hp2 HG00639.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0015 a0002c0002t0026 a0001c0006t0015 a0002c0002t0026	a0001c0006t0015g0187 a0002c0002t0026g0188 a0001c0006t0015g0187 a0002c0002t0026g0188	2	208	0.0096	-98	c.119 others(117): Show c.119+15091_119+15188delAGGAACGGGGACAGGGAGCCTCCGAG AAGCCTGGGGTCCGTGTGTGGGACGGAACGGGGACAGGGAGCCTCCGAGA AGCCTGGGGTCCGTGTGTGGGA	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAH_chr12_102831889_102922244	102868088	GTATATAT others(91): Show GTATATATATATATATACACATATATATACATATATGTGTATATATATAT ATATATATATATATATACACATATATATACATATATGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01069.hp2 others(56): Show HG00323.hp1 HG00639.hp2 HG01069.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 NA18522.hp1 NA18942.hp1 NA18992.hp1 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0007t0002	a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(55): Show a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0150 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0004g0257 a0001c0001t0004g0289 a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0009g0294 a0001c0001t0012g0141 a0001c0001t0012g0185 a0001c0007t0002g0173	59	300	0.1967	-98	c.442 others(115): Show c.442-1523_442-1426delTATATATATACACATATATGTATATATA TGTGTATATATATATATATATATATATATATACACATATATGTATATATA TGTGTATATATATATATATA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PDE6B_chr4_620573_675782	651026	GGCAGTGG others(91): Show GGCAGTGGGGCTGTCACAGGCAGGACGGGCTGAGGCGGCGATGTCAACGG CAGTGGGGCTGTCACAGGCGGGGCAGGGGCTGAGGTGGCGATGTCAACA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0046 a0001c0001t0011g0046	1	196	0.0051	-98	c.712 others(115): Show c.712-2815_712-2718delTGTCACAGGCAGGACGGGCTGAGGCGGC GATGTCAACGGCAGTGGGGCTGTCACAGGCGGGGCAGGGGCTGAGGTGGC GATGTCAACAGCAGTGGGGC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDZRN4_chr12_41183320_41579745	41402262	ATATATAT others(91): Show ATATATATATATACACACTGTGTATATATATATATATACACACAGTGTGT ATATATATATACACACACTGTGTGTATATATATATATACACACAGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01243.hp2 HG02074.hp2 others(2): Show HG00544.hp1 HG01243.hp2 HG02074.hp2 NA18981.hp1 NA19010.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0034 a0002c0055 others(2): Show a0001c0001 a0001c0034 a0002c0055 a0004c0003 a0006c0049	a0001c0001t0001 a0001c0034t0003 a0002c0055t0001 others(2): Show a0001c0001t0001 a0001c0034t0003 a0002c0055t0001 a0004c0003t0002 a0006c0049t0002	a0001c0001t0001g0016 a0001c0034t0003g0037 a0002c0055t0001g0205 others(2): Show a0001c0001t0001g0016 a0001c0034t0003g0037 a0002c0055t0001g0205 a0004c0003t0002g0057 a0006c0049t0002g0028	5	206	0.0243	-98	c.844 others(119): Show c.844-104181_844-104084delCACACTGTGTATATATATATATAT ACACACAGTGTGTATATATATATACACACACTGTGTGTATATATATATAT ACACACAGTGTGTATATATATATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGBD5_chr1_230309490_230431332	230396139	TACTCATC others(91): Show TACTCATCCCTTTTACTCCCACACTCCTCCCTTTTACCCACATTCCTTTT TACCCCCCCACTCTTCCCTTTTACTCACATTCCTCCTTTTTACCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02717.hp2 HG02723.hp2 others(2): Show HG01891.hp1 HG02717.hp2 HG02723.hp2 HG02922.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0036 a0001c0002t0078 others(1): Show a0001c0001t0011 a0001c0002t0036 a0001c0002t0078 a0001c0002t0090	a0001c0001t0011g0024 a0001c0001t0011g0035 a0001c0002t0036g0036 others(2): Show a0001c0001t0011g0024 a0001c0001t0011g0035 a0001c0002t0036g0036 a0001c0002t0078g0041 a0001c0002t0090g0195	5	286	0.0175	-98	c.331 others(117): Show c.331+29361_331+29458delGTGGGGGTAAAAAGGAGGAATGTGAG TAAAAGGGAAGAGTGGGGGGGTAAAAAGGAATGTGGGTAAAAGGGAGGAG TGTGGGAGTAAAAGGGATGAGT	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6			chr1	TogoVar
PHF8_chrX_53931680_54049473	53967234	TGCCCGGC others(91): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01358.hp1 HG03492.hp1 others(1): Show HG00140.hp1 HG01358.hp1 HG03492.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0101 others(1): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0101 a0001c0001t0001g0108	4	184	0.0217	-98	c.244 others(117): Show c.2444-4393_2444-4296delGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGC	PHF8	ENSG00000172943.21	transcript	ENST00000338154.11	protein_coding	18/21			chrX	TogoVar
PID1_chr2_229018973_229276287	229139017	AAGAAAGA others(91): Show AAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01175.hp2 HG02886.hp1 HG01168.hp1 HG01175.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0067 a0001c0001t0002g0079 a0001c0001t0008g0004 a0001c0001t0001g0067 a0001c0001t0002g0079 a0001c0001t0008g0004	3	252	0.0119	-98	c.177 others(117): Show c.177+16703_177+16800delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT CTTTCTTTCTTTCTTTCTTTCT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PJA2_chr5_109329722_109414974	109341747	CGGCCAGC others(91): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0117 a0003c0003t0002g0117	1	344	0.0029	-98	c.200 others(117): Show c.2001+2345_2001+2442delAGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCC	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109342064	TCCGCCCG others(91): Show TCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGATGTCGGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03225.hp2 HG02723.hp1 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0195 a0002c0002t0001g0007 a0002c0002t0001g0195	2	269	0.0074	-98	c.200 others(117): Show c.2001+2028_2001+2125delGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109342292	TCTGCCCG others(91): Show TCTGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGATCGGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA20905.hp2 HG03704.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0083 a0003c0003t0002g0115 a0003c0003t0002g0083 a0003c0003t0002g0115	2	344	0.0058	-98	c.200 others(117): Show c.2001+1800_2001+1897delGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGGGCAG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109342311	TGTCCGGG others(91): Show TGTCCGGGAGGGAGGTGGGGGGATCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00735.hp1 others(33): Show HG00140.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01516.hp2 HG01928.hp2 HG01993.hp2 HG02145.hp1 HG02148.hp2 HG02293.hp1 HG02602.hp1 HG02698.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 NA19057.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0011 a0003c0003t0022 others(1): Show a0003c0003t0002 a0003c0003t0011 a0003c0003t0022 a0003c0003t0024	a0003c0003t0002g0052 a0003c0003t0002g0058 a0003c0003t0002g0060 others(33): Show a0003c0003t0002g0052 a0003c0003t0002g0058 a0003c0003t0002g0060 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0067 a0003c0003t0002g0068 a0003c0003t0002g0069 a0003c0003t0002g0070 a0003c0003t0002g0071 a0003c0003t0002g0072 a0003c0003t0002g0073 a0003c0003t0002g0077 a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0080 a0003c0003t0002g0081 a0003c0003t0002g0082 a0003c0003t0002g0095 a0003c0003t0002g0103 a0003c0003t0002g0114 a0003c0003t0002g0116 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0121 a0003c0003t0002g0122 a0003c0003t0002g0123 a0003c0003t0002g0287 a0003c0003t0002g0296 a0003c0003t0002g0297 a0003c0003t0002g0302 a0003c0003t0011g0340 a0003c0003t0011g0341 a0003c0003t0022g0074 a0003c0003t0024g0339	36	344	0.1047	-98	c.200 others(117): Show c.2001+1781_2001+1878delCGGGCGGCTGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGAC	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109342333	ATCGGCCC others(91): Show ATCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCGGCCCCCTGCCCGGCCAGCCGCCCGGTCCGGGAGGGAGGTGGGGATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0199 a0001c0001t0004g0199	1	344	0.0029	-98	c.200 others(117): Show c.2001+1759_2001+1856delCATCCCCACCTCCCTCCCGGACCGGG CGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGA	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar

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