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
NGEF_chr2_232873701_233018256	232905895	G G	GGGGGGGT others(43): Show GGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG A	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19005.hp1 HG02738.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0199 a0001c0004t0003g0258 a0001c0001t0001g0199 a0001c0004t0003g0258	2	125	0.0160	50	c.829 others(69): Show c.829-10980_829-10979insTCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGAGGGGCTGACCCCCC	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995026	G G	GTATATAT others(43): Show GTATATATGTACAGTATGTACACTGTATATATGTACAGTATGTACACTGT A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0012 a0001c0001t0023g0012	1	360	0.0028	50	c.-75 others(69): Show c.-75+18041_-75+18042insTACAGTGTACATACTGTACATATATA CAGTGTACATACTGTACATATATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHEJ1_chr2_219064357_219165815	219159540	T T	TATATATA others(43): Show TATATATATGCATATATATATATGCATATATATATATGCATATATATATG C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03239.hp2 HG03688.hp2 others(2): Show HG03017.hp2 HG03239.hp2 HG03688.hp2 HG04115.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 others(2): Show a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0031g0249	5	332	0.0151	50	c.-1+ others(64): Show c.-1+1179_1-1178insGCATATATATATGCATATATATATATGCATA TATATATATGCATATATAT	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	1/7			chr2	TogoVar
NHEJ1_chr2_219064357_219165815	219159552	C C	CATATATA others(43): Show CATATATATGCATATATATATATGCATATATATATGCATATATATATGCA T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	227	0.0044	50	c.-1+ others(65): Show c.-1+1167_-1+1168insATGCATATATATATGCATATATATATGCAT ATATATATATGCATATATAT	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	1/7			chr2	TogoVar
NID1_chr1_235970830_236070090	235993468	C C	CGGGGAGG others(43): Show CGGGGAGGAGCGGGGTAAGTGAGAGGGAAGAAGGGTGCAGCAGGAGCGGG T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01891.hp2 others(22): Show HG01243.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02622.hp1 HG02809.hp1 HG02818.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0023 a0028	a0001c0001 a0002c0002 a0002c0043 others(11): Show a0001c0001 a0002c0002 a0002c0043 a0002c0065 a0003c0007 a0004c0005 a0005c0019 a0006c0024 a0008c0023 a0008c0027 a0010c0015 a0011c0022 a0023c0038 a0028c0049	a0001c0001t0004 a0002c0002t0001 a0002c0002t0003 others(15): Show a0001c0001t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0043t0001 a0002c0065t0003 a0003c0007t0001 a0003c0007t0003 a0004c0005t0004 a0005c0019t0003 a0006c0024t0003 a0006c0024t0005 a0008c0023t0003 a0008c0027t0001 a0010c0015t0003 a0011c0022t0004 a0023c0038t0001 a0028c0049t0001	a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 others(22): Show a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0002c0002t0001g0290 a0002c0002t0003g0299 a0002c0002t0005g0293 a0002c0043t0001g0292 a0002c0065t0003g0330 a0003c0007t0001g0127 a0003c0007t0003g0021 a0004c0005t0004g0061 a0005c0019t0003g0280 a0005c0019t0003g0309 a0006c0024t0003g0110 a0006c0024t0003g0128 a0006c0024t0005g0037 a0008c0023t0003g0011 a0008c0027t0001g0015 a0010c0015t0003g0006 a0010c0015t0003g0007 a0010c0015t0003g0009 a0010c0015t0003g0014 a0011c0022t0004g0008 a0023c0038t0001g0302 a0028c0049t0001g0306	25	317	0.0789	50	c.275 others(67): Show c.2755+127_2755+176dupACCCGCTCCTGCTGCACCCTTCTTCCCT CTCACTTACCCCGCTCCTCCCC	NID1	ENSG00000116962.15	transcript	ENST00000264187.7	protein_coding	13/19			chr1	TogoVar
NINJ2_chr12_559296_668445	618241	G G	GGAGGTGG others(43): Show GGAGGTGGGGGTGAGGAGTTGGTAATGAGGTGGGGGTGAGGAGTTGGTAA T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp1 others(102): Show HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01934.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02300.hp1 HG02451.hp1 HG02572.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03195.hp1 HG03490.hp1 HG03669.hp2 HG03704.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18979.hp2 NA18980.hp2 NA18986.hp1 NA18990.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19068.hp1 NA19074.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19087.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0063 others(101): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0383 a0001c0001t0001g0387 a0001c0001t0001g0390 a0001c0001t0001g0392 a0001c0001t0001g0393 a0001c0001t0001g0402 a0001c0001t0001g0403 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0080 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0137 a0001c0001t0002g0167 a0001c0001t0002g0179 a0001c0001t0002g0200 a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0309 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0327 a0001c0001t0002g0365 a0001c0001t0002g0388 a0001c0001t0003g0002 a0002c0004t0002g0100	105	386	0.2720	50	c.33+ others(67): Show c.33+45037_33+45086dupATTACCAACTCCTCACCCCCACCTCATT ACCAACTCCTCACCCCCACCTC	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	618361	G G	GGTAATGA others(43): Show GGTAATGAGGTGGGGGTGAGGAGTTGGTAATGAGGTGGGGGTGAGGAGTT A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02080.hp1 HG02132.hp1 others(4): Show HG00438.hp1 HG02080.hp1 HG02132.hp1 HG02523.hp1 NA18747.hp1 NA18944.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0326 a0001c0001t0001g0330 others(4): Show a0001c0001t0001g0028 a0001c0001t0001g0326 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0340 a0001c0001t0001g0345 a0001c0001t0001g0367	7	279	0.0251	50	c.33+ others(67): Show c.33+44966_33+44967insTAACTCCTCACCCCCACCTCATTACCAA CTCCTCACCCCCACCTCATTAC	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NLGN1_chr3_173392744_174299372	174289957	A A	ATATATAT others(43): Show ATATATATATGTATATATATATGTGTATATATATATGTATATATATATGT G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0038 a0001c0001t0029g0038	1	40	0.0250	50	c.86 others(61): Show c.8663_*8664insGTATATATATATGTGTATATATATATGTATATAT ATATGTGTATATATAT	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	7/7	8664	INFO_REALIGN_3_PRIME	chr3	TogoVar
NLGN4X_chrX_5885042_6233867	6049227	A A	AAGGGGAA others(43): Show AAGGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 NA19063.hp1 HG00408.hp1 HG00423.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0115 a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0115	3	17	0.1765	50	c.473 others(69): Show c.473-19796_473-19795insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCTTCCCCT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	2/5			chrX	TogoVar
NLGN4X_chrX_5885042_6233867	6049227	A A	AAGGGGAG others(43): Show AAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG G	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18999.hp2 NA18995.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0071 a0001c0002t0003g0090 a0001c0002t0003g0071 a0001c0002t0003g0090	2	16	0.1250	50	c.473 others(69): Show c.473-19796_473-19795insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	2/5			chrX	TogoVar
NLRP2_chr19_54961374_55006138	54999019	A A	ACCCCCCG others(43): Show ACCCCCCGACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0016 a0004c0007t0003g0016	1	428	0.0023	50	c.305 others(69): Show c.3050+1538_3050+1539insGACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCC	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54999026	C C	CACCTCCC others(43): Show CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00639.hp1 others(59): Show HG00099.hp1 HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01168.hp2 HG01175.hp2 HG01346.hp2 HG01358.hp1 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03139.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp1 NA18906.hp2 NA18947.hp2 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18967.hp1 NA18979.hp1 NA18981.hp2 NA18995.hp2 NA19004.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19057.hp1 NA19058.hp2 NA19077.hp1 NA19084.hp2 NA19087.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0012 a0018 a0025 a0031	a0001c0004 a0002c0003 a0002c0009 others(13): Show a0001c0004 a0002c0003 a0002c0009 a0002c0012 a0002c0019 a0002c0037 a0002c0047 a0004c0007 a0004c0014 a0004c0023 a0004c0054 a0005c0055 a0012c0028 a0018c0046 a0025c0053 a0031c0034	a0001c0004t0008 a0001c0004t0024 a0002c0003t0003 others(19): Show a0001c0004t0008 a0001c0004t0024 a0002c0003t0003 a0002c0003t0018 a0002c0009t0003 a0002c0009t0006 a0002c0012t0004 a0002c0019t0003 a0002c0019t0008 a0002c0037t0005 a0002c0047t0003 a0004c0007t0003 a0004c0014t0005 a0004c0014t0010 a0004c0014t0014 a0004c0023t0019 a0004c0054t0021 a0005c0055t0012 a0012c0028t0003 a0018c0046t0003 a0025c0053t0003 a0031c0034t0003	a0001c0004t0008g0031 a0001c0004t0024g0180 a0002c0003t0003g0228 others(59): Show a0001c0004t0008g0031 a0001c0004t0024g0180 a0002c0003t0003g0228 a0002c0003t0003g0378 a0002c0003t0003g0381 a0002c0003t0003g0382 a0002c0003t0003g0386 a0002c0003t0003g0398 a0002c0003t0003g0400 a0002c0003t0003g0407 a0002c0003t0003g0411 a0002c0003t0003g0417 a0002c0003t0003g0424 a0002c0003t0018g0383 a0002c0009t0003g0059 a0002c0009t0003g0066 a0002c0009t0003g0178 a0002c0009t0003g0418 a0002c0009t0003g0425 a0002c0009t0006g0384 a0002c0012t0004g0078 a0002c0012t0004g0079 a0002c0012t0004g0116 a0002c0012t0004g0121 a0002c0019t0003g0299 a0002c0019t0008g0032 a0002c0037t0005g0141 a0002c0047t0003g0380 a0004c0007t0003g0001 a0004c0007t0003g0008 a0004c0007t0003g0010 a0004c0007t0003g0011 a0004c0007t0003g0012 a0004c0007t0003g0013 a0004c0007t0003g0014 a0004c0007t0003g0015 a0004c0007t0003g0018 a0004c0007t0003g0019 a0004c0007t0003g0339 a0004c0007t0003g0340 a0004c0007t0003g0341 a0004c0007t0003g0342 a0004c0007t0003g0343 a0004c0007t0003g0344 a0004c0007t0003g0345 a0004c0007t0003g0346 a0004c0007t0003g0347 a0004c0007t0003g0412 a0004c0014t0005g0102 a0004c0014t0005g0103 a0004c0014t0005g0117 a0004c0014t0010g0273 a0004c0014t0014g0293 a0004c0014t0014g0294 a0004c0023t0019g0176 a0004c0054t0021g0409 a0005c0055t0012g0374 a0012c0028t0003g0405 a0012c0028t0003g0406 a0018c0046t0003g0392 a0025c0053t0003g0394 a0031c0034t0003g0001	62	425	0.1459	50	c.305 others(69): Show c.3050+1554_3050+1555insGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCAACCTCCCTCCCGGAC	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54999041	C C	CGGGGCGG others(43): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAACCTCCCTCCCGGA T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02451.hp1 others(1): Show HG02109.hp2 HG02280.hp1 HG02451.hp1 HG02886.hp1	a0004 a0014 a0021 a0004 a0014 a0021	a0004c0023 a0014c0029 a0021c0051 a0004c0023 a0014c0029 a0021c0051	a0004c0023t0006 a0014c0029t0023 a0021c0051t0006 a0004c0023t0006 a0014c0029t0023 a0021c0051t0006	a0004c0023t0006g0322 a0004c0023t0006g0349 a0014c0029t0023g0282 others(1): Show a0004c0023t0006g0322 a0004c0023t0006g0349 a0014c0029t0023g0282 a0021c0051t0006g0182	4	428	0.0093	50	c.305 others(69): Show c.3050+1554_3050+1555insGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCAACCTCCCTCCCGGAT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	12/12			chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993557	C C	CCCCCTCC others(43): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0008 a0008	a0008c0028 a0008c0028	a0008c0028t0007 a0008c0028t0007	a0008c0028t0007g0284 a0008c0028t0007g0284	1	317	0.0032	50	c.56 others(61): Show c.5644_*5645insCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCCTCCCCTCCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4929		chr19	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	184	0.0054	50	c.48 others(61): Show c.4818_*4819insAAAAAAAAAAAAATATATATATATATATATATAT ATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(43): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	184	0.0054	50	c.48 others(61): Show c.4818_*4819insAAAAAAAAAAATATATATATATATATATATATAT ATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME8_chr7_37843597_37905397	37882643	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGA A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp1 HG02735.hp2 others(3): Show HG00544.hp2 HG00673.hp1 HG02735.hp2 NA18952.hp1 NA19003.hp1 NA19080.hp2	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0001 a0003c0003 a0014c0032 a0001c0001 a0003c0003 a0014c0032	a0001c0001t0003 a0001c0001t0004 a0003c0003t0001 others(1): Show a0001c0001t0003 a0001c0001t0004 a0003c0003t0001 a0014c0032t0001	a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0089 others(3): Show a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0089 a0001c0001t0004g0190 a0003c0003t0001g0131 a0014c0032t0001g0136	6	219	0.0274	50	c.995 others(67): Show c.995-1659_995-1658insAAGAAAGAAAGAAAGAAAGAGAAAGAAA GAAAGAAAGAAAGAAAAAGAAA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOL8_chr9_92292358_92330350	92292614	T T	TTGCACAA others(43): Show TTGCACAACAACCTTGTTGTGCAGAGGGATGCCATCCCCTTTGCTTCCCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0209 a0001c0002t0005g0209	1	406	0.0025	50	c.51 others(61): Show c.5172_*5221dupGAGGGAAGCAAAGGGGATGGCATCCCTCTGCACA ACAAGGTTGTTGTGCA	NOL8	ENSG00000198000.12	transcript	ENST00000442668.7	protein_coding		4743		chr9	TogoVar
NOS1AP_chr1_162064691_162375475	162217267	C C	CTTTTTTT others(43): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	25	0.0400	50	c.177 others(69): Show c.177+62805_177+62806insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264464	T T	TCTTCTCT others(43): Show TCTTCTCTTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTC C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0145 a0001c0002t0009g0145	1	133	0.0075	50	c.178 others(69): Show c.178-22879_178-22878insTTCTCTTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCCCCTCCCCTCCC	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264464	T T	TCTTCTCT others(43): Show TCTTCTCTTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTC C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG01109.hp1 others(7): Show HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01257.hp1 HG01934.hp1 HG02698.hp1 HG03225.hp2 NA19068.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0002t0004 a0001c0002t0025 a0001c0003t0003 a0001c0003t0031	a0001c0001t0001g0124 a0001c0001t0002g0036 a0001c0001t0020g0104 others(7): Show a0001c0001t0001g0124 a0001c0001t0002g0036 a0001c0001t0020g0104 a0001c0002t0004g0015 a0001c0002t0004g0109 a0001c0002t0004g0110 a0001c0002t0025g0016 a0001c0003t0003g0050 a0001c0003t0003g0149 a0001c0003t0031g0178	10	142	0.0704	50	c.178 others(69): Show c.178-22879_178-22878insTTCTCTTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCCCCTCCC	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264468	C C	CTCCTCTC others(43): Show CTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCT G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp1 HG02258.hp2 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0007 a0001c0003t0003 a0001c0003t0007	a0001c0003t0003g0084 a0001c0003t0007g0154 a0001c0003t0003g0084 a0001c0003t0007g0154	2	50	0.0400	50	c.178 others(69): Show c.178-22876_178-22875insTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCCCCTCCCCTG	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9			chr1	TogoVar
NOTCH1_chr9_136489433_136551048	136535464	C C	CGGGGAGC others(43): Show CGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03098.hp2 HG03130.hp2 others(2): Show HG02015.hp1 HG03098.hp2 HG03130.hp2 HG03471.hp1 HG03540.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0001c0018 a0001c0041 others(1): Show a0001c0001 a0001c0018 a0001c0041 a0018c0045	a0001c0001t0001 a0001c0001t0003 a0001c0018t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0018t0001 a0001c0041t0004 a0018c0045t0003	a0001c0001t0001g0305 a0001c0001t0003g0214 a0001c0018t0001g0250 others(2): Show a0001c0001t0001g0305 a0001c0001t0003g0214 a0001c0018t0001g0250 a0001c0041t0004g0036 a0018c0045t0003g0306	5	271	0.0185	50	c.140 others(67): Show c.140+8559_140+8560insCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535570	G G	GGGGGGGG others(43): Show GGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03490.hp1 HG03669.hp2 others(5): Show HG00323.hp2 HG03490.hp1 HG03669.hp2 HG04199.hp1 NA18747.hp1 NA18960.hp2 NA18966.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0008 others(2): Show a0001c0001 a0001c0007 a0001c0008 a0001c0009 a0001c0031	a0001c0001t0003 a0001c0001t0011 a0001c0007t0005 others(4): Show a0001c0001t0003 a0001c0001t0011 a0001c0007t0005 a0001c0008t0001 a0001c0008t0009 a0001c0009t0001 a0001c0031t0001	a0001c0001t0003g0261 a0001c0001t0003g0301 a0001c0001t0011g0092 others(5): Show a0001c0001t0003g0261 a0001c0001t0003g0301 a0001c0001t0011g0092 a0001c0007t0005g0151 a0001c0008t0001g0286 a0001c0008t0009g0194 a0001c0009t0001g0287 a0001c0031t0001g0257	8	313	0.0256	50	c.140 others(67): Show c.140+8453_140+8454insACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOX1_chrX_100838324_100879359	100853290	C C	CTTTCTTT others(43): Show CTTTCTTTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18939.hp1 HG01109.hp1 NA18939.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0220 a0002c0002t0001g0230 a0001c0001t0001g0220 a0002c0002t0001g0230	2	282	0.0071	50	c.805 others(67): Show c.805-1966_805-1965insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAAAGAGAGAGAAAGAAA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX1_chrX_100838324_100879359	100853294	C C	CTTTCTTT others(43): Show CTTTCTTTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03195.hp2 HG03579.hp1 others(1): Show HG02257.hp1 HG03195.hp2 HG03579.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0111 a0001c0001t0001g0131 a0001c0001t0001g0247 others(1): Show a0001c0001t0001g0111 a0001c0001t0001g0131 a0001c0001t0001g0247 a0001c0003t0001g0268	4	284	0.0141	50	c.805 others(67): Show c.805-1970_805-1969insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAAAGAGAGAGAAAGAAA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX1_chrX_100838324_100879359	100853298	C C	CTTTCTTT others(43): Show CTTTCTTTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18946.hp2 HG03654.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0215 a0001c0001t0001g0127 a0001c0001t0001g0215	2	288	0.0069	50	c.805 others(67): Show c.805-1974_805-1973insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAAAGAGAGAGAAAGAAA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX1_chrX_100838324_100879359	100853302	C C	CTTTCTTT others(43): Show CTTTCTTTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG01884.hp2 HG02145.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0193 a0002c0002t0001g0250 a0001c0001t0001g0193 a0002c0002t0001g0250	2	293	0.0068	50	c.805 others(67): Show c.805-1978_805-1977insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAAAGAGAGAGAAAGAAA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX5_chr15_69009695_69067762	69045548	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTC T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0295 a0005c0006t0006g0295	1	385	0.0026	50	c.164 others(69): Show c.1648-1252_1648-1251insTCTTTCTTTCTTTCTTTCCTTTCTTT CTTTTCTTTCTTTCTTTCTTTCTT	NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
NOX5_chr15_69009695_69067762	69045552	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCCTTTCTTTC T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0084 a0001c0003t0001g0084	1	348	0.0029	50	c.164 others(69): Show c.1648-1252_1648-1251insTCTTTCTTTCTTTCTTTCTTCCCTTT CTTTCTTTTCTTTCTTTCTTTCTT	NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
NOX5_chr15_69009695_69067762	69045556	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCCTTTCTTTC T	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19030.hp2 HG02109.hp1 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0019 a0001c0003t0001 a0001c0003t0019	a0001c0003t0001g0189 a0001c0003t0019g0051 a0001c0003t0001g0189 a0001c0003t0019g0051	2	388	0.0052	50	c.164 others(69): Show c.1648-1252_1648-1251insTCTTTCTTTCTTTCTTTCTTTCTTCC CTTTCTTTCTTTTCTTTCTTTCTT	NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
NPAS3_chr14_32933879_33809173	33301306	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03195.hp2 HG02976.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0031 a0001c0001t0006 a0001c0001t0031	a0001c0001t0006g0019 a0001c0001t0031g0079 a0001c0001t0006g0019 a0001c0001t0031g0079	2	47	0.0426	50	c.386 others(69): Show c.386-65863_386-65862insATATATATATATATATATATATATAT ATATATATATATATATATATATAT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33308527	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0076 a0001c0001t0038g0076	1	21	0.0476	50	c.386 others(69): Show c.386-58658_386-58657insTATATATATATATATATATATATATA TATACACACACACACACACACACA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33308527	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATACACACACACACA C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0025 a0002c0004t0025	a0002c0004t0025g0028 a0002c0004t0025g0028	1	21	0.0476	50	c.386 others(69): Show c.386-58658_386-58657insTATATATATATATATATATATATATA TATATATATACACACACACACACA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33544797	T T	TATATATA others(43): Show TATATATATATGTGTATATATAATATATATATATATATATGTGTATATAT A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp1 HG02486.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0002c0004t0025 a0001c0001t0004 a0002c0004t0025	a0001c0001t0004g0059 a0002c0004t0025g0028 a0001c0001t0004g0059 a0002c0004t0025g0028	2	87	0.0230	50	c.469 others(69): Show c.469-15314_469-15313insGTGTATATATAATATATATATATATA TATGTGTATATATAATATATATAT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33544827	A A	ATATATAT others(43): Show ATATATATTATATATATATATATATATATTATATATATATATATAATTAT G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0001 a0001c0001t0015g0001	1	66	0.0152	50	c.469 others(69): Show c.469-15293_469-15292insATATATTATATATATATATATATATA TTATATATATATATATAATTATGT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPB_chr17_81897238_81907905	81904969	A A	AGAGAGCG others(43): Show AGAGAGCGCCCATGAGGCGGCTCCGAGGGGGAGGGCAGGGTAAGTCTAGC G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA19011.hp1 NA18975.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	294	0.0068	50	c.22 others(61): Show c.2221_*2222insGAGAGCGCCCATGAGGCGGCTCCGAGGGGGAGGG CAGGGTAAGTCTAGCG	NPB	ENSG00000183979.8	transcript	ENST00000333383.8	protein_coding		2065		chr17	TogoVar
NPSR1_chr7_34653218_34854978	34791025	A A	ATGTTATA others(43): Show ATGTTATATGTTGTATTATATGTTATATGTTATATGTTATATTATATATG T	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0156 a0003c0007t0002g0156	1	229	0.0044	50	c.384 others(69): Show c.384+12461_384+12462insGTTATATGTTGTATTATATGTTATAT GTTATATGTTATATTATATATGTT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPS_chr10_127544309_127558540	127557698	G G	GTATATAT others(43): Show GTATATATATATATATATATATATATATATATATATATATATATATATAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG03130.hp2 HG02647.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0002c0002t0001 a0001c0001t0015 a0002c0002t0001	a0001c0001t0015g0018 a0002c0002t0001g0019 a0001c0001t0015g0018 a0002c0002t0001g0019	2	333	0.0060	50	c.50 others(61): Show c.5059_*5060insTATATATATATATATATATATATATATATATATA TATATATATATATATA	NPS	ENSG00000214285.3	transcript	ENST00000398023.3	protein_coding		4159		chr10	TogoVar
NPTXR_chr22_38813452_38849028	38837845	T T	TTTTTATT others(43): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG02056.hp1 HG00741.hp1 HG01069.hp2 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0006 a0001c0001t0001 a0001c0008t0006	a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0008t0006g0040 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0008t0006g0040	3	175	0.0171	50	c.624 others(67): Show c.624+5389_624+5390insTAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAA	NPTXR	ENSG00000221890.6	transcript	ENST00000333039.4	protein_coding	1/4			chr22	TogoVar
NR3C1_chr5_143272934_143408686	143293397	G G	GAAAGACT others(43): Show GAAAGACTACACATTGGGTACAGTGTACACTGCTCGGGTGATGGGTGCAC C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	264	0.0038	50	c.202 others(69): Show c.2023+2013_2023+2062dupGGTGCACCCATCACCCGAGCAGTGTA CACTGTACCCAATGTGTAGTCTTT	NR3C1	ENSG00000113580.15	transcript	ENST00000394464.7	protein_coding	7/8			chr5	TogoVar
NRG3_chr10_81870194_82992178	82491293	A A	AATATATA others(43): Show AATATATATATATATATATACATATATATATATATATATATACATATATA T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG04204.hp1 HG00280.hp2 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0004 a0001c0001t0003 a0002c0003t0004	a0001c0001t0003g0054 a0002c0003t0004g0061 a0001c0001t0003g0054 a0002c0003t0004g0061	2	37	0.0541	50	c.953 others(71): Show c.953+132444_953+132445insCATATATATATATATATATATACA TATATATATATATATATATATATATA	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRG3_chr10_81870194_82992178	82491293	A A	AATATATA others(43): Show AATATATATATATATATATACATATATATATATATATATATATACATATA T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	36	0.0278	50	c.953 others(71): Show c.953+132444_953+132445insCATATATATATATATATATATATA CATATATATATATATATATATATATA	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRIP1_chr21_14956235_15070000	15030805	G G	GACATTCC others(43): Show GACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCAC C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02300.hp2 HG01256.hp1 HG02300.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0005 a0008c0010t0005	a0008c0010t0005g0257 a0008c0010t0005g0262 a0008c0010t0005g0257 a0008c0010t0005g0262	2	391	0.0051	50	c.-45 others(71): Show c.-458+12689_-458+12690insGGTGATCCTCCGAGCGCCTTCCAG AGTGTATACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030805	G G	GACATTCC others(43): Show GACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTGGAGGTTCAC C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp1 HG03209.hp2 others(1): Show HG02965.hp2 HG02970.hp1 HG03209.hp2 HG03540.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0013 a0001c0001 a0012c0013	a0001c0001t0017 a0012c0013t0017 a0001c0001t0017 a0012c0013t0017	a0001c0001t0017g0158 a0001c0001t0017g0159 a0001c0001t0017g0161 others(1): Show a0001c0001t0017g0158 a0001c0001t0017g0159 a0001c0001t0017g0161 a0012c0013t0017g0160	4	393	0.0102	50	c.-45 others(71): Show c.-458+12689_-458+12690insGGTGAACCTCCAACCGCCTTCCAG AGTGTATACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030864	C C	CTTCTATG others(43): Show CTTCTATGTGTGTACACTCTGGAAGGCGTTCGGAGGATCACCACATTCCC T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02080.hp2 HG02040.hp2 HG02080.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0008 a0002c0003t0027 a0001c0002t0008 a0002c0003t0027	a0001c0002t0008g0266 a0002c0003t0027g0030 a0001c0002t0008g0266 a0002c0003t0027g0030	2	370	0.0054	50	c.-45 others(71): Show c.-458+12630_-458+12631insAGGGAATGTGGTGATCCTCCGAAC GCCTTCCAGAGTGTACACACATAGAA	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030875	G G	GTACACTC others(43): Show GTACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGTGT A	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19009.hp2 HG02083.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0317 a0001c0001t0001g0073 a0001c0001t0001g0317	2	384	0.0052	50	c.-45 others(71): Show c.-458+12619_-458+12620insTACACATAGAAAGGGAATGTGGTG ATCCTCCGAGCGCCTTCCAGAGTGTA	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030905	C C	CACATTCC others(43): Show CACATTCCCCTTCTATGTGTGTACACTCTGGAAGGCGGTTGGAGGTTCAC T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02970.hp2 HG02257.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0076 a0001c0001t0001g0077	2	299	0.0067	50	c.-45 others(71): Show c.-458+12589_-458+12590insAGTGAACCTCCAACCGCCTTCCAG AGTGTACACACATAGAAGGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030905	C C	CACATTCC others(43): Show CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCAC T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01255.hp1 HG01255.hp2 others(28): Show HG01081.hp1 HG01255.hp1 HG01255.hp2 HG01891.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02273.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02738.hp1 NA18957.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18980.hp2 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19057.hp1 NA19060.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19083.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0002c0021	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0025 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0023 a0001c0002t0026 a0001c0002t0039 a0001c0002t0043 a0001c0004t0052 a0002c0003t0003 a0002c0021t0040	a0001c0001t0001g0020 a0001c0001t0001g0070 a0001c0001t0001g0071 others(28): Show a0001c0001t0001g0020 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0004g0085 a0001c0001t0004g0106 a0001c0001t0004g0110 a0001c0001t0012g0078 a0001c0001t0012g0080 a0001c0001t0012g0108 a0001c0001t0012g0112 a0001c0001t0012g0148 a0001c0001t0025g0383 a0001c0002t0002g0137 a0001c0002t0002g0288 a0001c0002t0005g0145 a0001c0002t0008g0142 a0001c0002t0023g0155 a0001c0002t0026g0013 a0001c0002t0039g0315 a0001c0002t0043g0314 a0001c0004t0052g0384 a0002c0003t0003g0049 a0002c0003t0003g0109 a0002c0021t0040g0131	31	328	0.0945	50	c.-45 others(71): Show c.-458+12589_-458+12590insAGTGACCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030905	C C	CCCATTCC others(43): Show CCCATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCAC T	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18945.hp1 NA18947.hp2 others(5): Show HG02074.hp1 NA18945.hp1 NA18947.hp2 NA18963.hp1 NA19001.hp2 NA19006.hp2 NA19062.hp2 NA19085.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0021 a0002c0003t0003g0022 a0002c0003t0003g0023 others(5): Show a0002c0003t0003g0021 a0002c0003t0003g0022 a0002c0003t0003g0023 a0002c0003t0003g0024 a0002c0003t0003g0031 a0002c0003t0003g0059 a0002c0003t0003g0227 a0002c0003t0003g0228	8	305	0.0262	50	c.-45 others(71): Show c.-458+12589_-458+12590insAGTGACCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGG	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar

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