Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NHEJ1_chr2_219064357_219165815	219079251	CCTAGGCG others(14): Show CCTAGGCGTGCAAATCACCATG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02896.hp2 others(3): Show HG01891.hp1 HG02055.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0141 a0001c0001t0008g0142 a0001c0001t0008g0143 others(3): Show a0001c0001t0008g0141 a0001c0001t0008g0142 a0001c0001t0008g0143 a0001c0001t0008g0144 a0001c0001t0008g0145 a0001c0001t0008g0146	6	348	0.0172	-21	c.589 others(38): Show c.589-1066_589-1046delCATGGTGATTTGCACGCCTAG		NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	5/7						chr2	TogoVar
NHERF2_chr16_2021902_2044026	2031014	TGAGAACC others(14): Show TGAGAACCGCGCTTGGGGCAGG	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02135.hp1 HG02027.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0174 a0001c0001t0002g0175 a0001c0001t0001g0174 a0001c0001t0002g0175	2	420	0.0048	-21	c.414 others(38): Show c.414+1234_414+1254delAGAACCGCGCTTGGGGCAGGG		NHERF2	ENSG00000065054.14	transcript	ENST00000424542.7	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr16	TogoVar
NHSL2_chrX_71905845_72158286	71980560	GGTGTGTG others(14): Show GGTGTGTGGGGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp2 others(84): Show HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01928.hp1 HG01952.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02630.hp1 HG02698.hp1 HG02738.hp1 HG02818.hp2 HG03017.hp1 HG03209.hp1 HG03239.hp2 HG03490.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18953.hp1 NA18961.hp1 NA18965.hp1 NA18967.hp1 NA18970.hp1 NA18977.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA19000.hp1 NA19003.hp1 NA19005.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19079.hp1 NA19082.hp1 NA19086.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0010	a0001c0001 a0001c0003 a0001c0010 others(9): Show a0001c0001 a0001c0003 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0002c0002 a0003c0004 a0004c0006 a0006c0008 a0007c0007 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0039 a0001c0001t0049 a0001c0001t0053 a0001c0001t0057 a0001c0003t0027 a0001c0010t0002 a0001c0011t0002 a0001c0012t0002 a0001c0013t0004 a0002c0002t0003 a0002c0002t0010 a0002c0002t0020 a0002c0002t0043 a0003c0004t0001 a0003c0004t0004 a0003c0004t0009 a0003c0004t0011 a0003c0004t0045 a0003c0004t0056 a0004c0006t0002 a0006c0008t0001 a0007c0007t0005 a0010c0009t0037	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0017 others(84): Show a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0002g0018 a0001c0001t0002g0091 a0001c0001t0002g0105 a0001c0001t0002g0117 a0001c0001t0002g0128 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0004g0012 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0108 a0001c0001t0004g0115 a0001c0001t0004g0131 a0001c0001t0006g0116 a0001c0001t0006g0134 a0001c0001t0007g0122 a0001c0001t0012g0184 a0001c0001t0016g0015 a0001c0001t0019g0130 a0001c0001t0021g0013 a0001c0001t0022g0172 a0001c0001t0032g0164 a0001c0001t0033g0121 a0001c0001t0034g0175 a0001c0001t0035g0166 a0001c0001t0039g0123 a0001c0001t0049g0163 a0001c0001t0053g0133 a0001c0001t0057g0110 a0001c0003t0027g0124 a0001c0010t0002g0011 a0001c0011t0002g0167 a0001c0012t0002g0120 a0001c0013t0004g0165 a0002c0002t0003g0126 a0002c0002t0003g0127 a0002c0002t0003g0170 a0002c0002t0003g0183 a0002c0002t0010g0076 a0002c0002t0010g0109 a0002c0002t0010g0132 a0002c0002t0020g0182 a0002c0002t0043g0027 a0003c0004t0001g0119 a0003c0004t0001g0177 a0003c0004t0004g0186 a0003c0004t0009g0083 a0003c0004t0009g0084 a0003c0004t0009g0107 a0003c0004t0011g0086 a0003c0004t0045g0087 a0003c0004t0056g0014 a0004c0006t0002g0180 a0004c0006t0002g0181 a0006c0008t0001g0104 a0007c0007t0005g0113 a0010c0009t0037g0185	87	124	0.7016	-21	c.280 others(40): Show c.280+69201_280+69221delGGGTGTGTGTGTGTGTGTGTG		NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17425522	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02293.hp2 HG01261.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0002 a0001c0001t0004g0163 a0001c0001t0002g0002 a0001c0001t0004g0163	2	25	0.0800	-21	c.565 others(40): Show c.565+49229_565+49249delAAAAAAAAAAAAAAAAAAAAA		NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
NIBAN2_chr9_127500343_127574073	127509772	CCCCTCCT others(14): Show CCCCTCCTCTCCTTCCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03098.hp1 NA19074.hp2 others(1): Show HG01884.hp1 HG03098.hp1 NA19074.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0005 a0001c0001t0022 a0001c0001t0023 others(1): Show a0001c0001t0005 a0001c0001t0022 a0001c0001t0023 a0003c0004t0002	a0001c0001t0005g0037 a0001c0001t0022g0010 a0001c0001t0023g0012 others(1): Show a0001c0001t0005g0037 a0001c0001t0022g0010 a0001c0001t0023g0012 a0003c0004t0002g0193	4	318	0.0126	-21	c.116 others(38): Show c.1161+353_1161+373delAAGGAGGGAAGGAGAGGAGGG		NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	9/13						chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127523193	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03710.hp1 HG01168.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0226 a0001c0001t0003g0172 a0001c0001t0003g0226	2	246	0.0081	-21	c.589 others(36): Show c.589+465_589+485delATATATATATATATATATATA		NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13						chr9	TogoVar
NID2_chr14_51999809_52074059	52030490	AAAGAAAG others(14): Show AAAGAAAGAAAGAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01070.hp2 HG01071.hp2 others(4): Show HG00423.hp2 HG01070.hp2 HG01071.hp2 HG02622.hp1 NA18906.hp2 NA18946.hp2 NA18969.hp1	a0002 a0020 a0002 a0020	a0002c0003 a0002c0004 a0020c0045 a0002c0003 a0002c0004 a0020c0045	a0002c0003t0001 a0002c0004t0001 a0020c0045t0001 a0002c0003t0001 a0002c0004t0001 a0020c0045t0001	a0002c0003t0001g0058 a0002c0003t0001g0093 a0002c0003t0001g0136 others(4): Show a0002c0003t0001g0058 a0002c0003t0001g0093 a0002c0003t0001g0136 a0002c0004t0001g0097 a0002c0004t0001g0147 a0002c0004t0001g0148 a0020c0045t0001g0055	7	309	0.0227	-21	c.225 others(38): Show c.2258-821_2258-801delCTTTCTTTCTCTTTCTTTCTT		NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21						chr14	TogoVar
NINJ2_chr12_559296_668445	585649	ACTGTGTG others(14): Show ACTGTGTGCAATGTCCTGAACT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	402	0.0025	-21	c.34- others(38): Show c.34-19492_34-19472delAGTTCAGGACATTGCACACAG		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NINL_chr20_25447697_25590531	25542697	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01361.hp2 HG01891.hp2 others(1): Show HG01167.hp1 HG01361.hp2 HG01891.hp2 HG02970.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0202 a0004c0005t0001g0203 a0004c0005t0001g0205 others(1): Show a0004c0005t0001g0202 a0004c0005t0001g0203 a0004c0005t0001g0205 a0004c0005t0001g0208	4	13	0.3077	-21	c.-11 others(40): Show c.-11-16120_-11-16100delTTTTTTTTTTTTTTTTTTTTT		NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23						chr20	TogoVar
NIPAL2_chr8_98184826_98299235	98244572	CGCTGTGG others(14): Show CGCTGTGGTGATGAGAGGGTGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(93): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00558.hp1 HG01070.hp1 HG01109.hp1 HG01109.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01496.hp2 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02055.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03710.hp2 HG03927.hp1 HG04204.hp2 NA18747.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18966.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18997.hp1 NA19000.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19082.hp1 NA19083.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0013 a0001c0002t0020 a0001c0002t0022 a0001c0002t0023 a0002c0003t0002 a0002c0004t0001 a0004c0008t0003	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0024 others(93): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0044 a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0001g0184 a0001c0001t0001g0197 a0001c0001t0001g0290 a0001c0001t0001g0314 a0001c0001t0002g0033 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0067 a0001c0001t0002g0085 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0309 a0001c0001t0003g0050 a0001c0001t0003g0060 a0001c0001t0003g0101 a0001c0001t0003g0122 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0149 a0001c0001t0003g0170 a0001c0001t0009g0012 a0001c0001t0009g0013 a0001c0001t0009g0185 a0001c0001t0011g0004 a0001c0001t0011g0005 a0001c0001t0014g0187 a0001c0001t0016g0293 a0001c0002t0001g0045 a0001c0002t0001g0051 a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0074 a0001c0002t0001g0080 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0154 a0001c0002t0001g0181 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0228 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0260 a0001c0002t0001g0272 a0001c0002t0001g0299 a0001c0002t0004g0011 a0001c0002t0004g0017 a0001c0002t0004g0082 a0001c0002t0004g0083 a0001c0002t0004g0084 a0001c0002t0004g0087 a0001c0002t0004g0114 a0001c0002t0004g0304 a0001c0002t0004g0305 a0001c0002t0004g0306 a0001c0002t0006g0061 a0001c0002t0006g0079 a0001c0002t0013g0057 a0001c0002t0013g0058 a0001c0002t0020g0086 a0001c0002t0022g0303 a0001c0002t0023g0231 a0002c0003t0002g0065 a0002c0003t0002g0075 a0002c0003t0002g0077 a0002c0004t0001g0206 a0004c0008t0003g0262	96	270	0.3556	-21	c.376 others(38): Show c.376+7870_376+7890delCCACCCTCTCATCACCACAGC		NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	3/10						chr8	TogoVar
NKAIN2_chr6_123798865_124830640	123900532	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp2 HG02109.hp2 others(15): Show HG00741.hp1 HG01884.hp2 HG02109.hp2 HG02602.hp2 HG02615.hp2 HG02717.hp1 HG02896.hp2 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0019 others(15): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0003g0033 a0001c0001t0005g0031 a0001c0001t0006g0016 a0001c0001t0007g0046 a0001c0001t0019g0021 a0001c0001t0020g0005 a0001c0001t0021g0027 a0001c0002t0001g0008 a0001c0002t0003g0029 a0001c0002t0004g0063 a0001c0002t0005g0020	18	23	0.7826	-21	c.54+ others(38): Show c.54+96295_54+96315delTTTTTTTTTTTTTTTTTTTTT		NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	124355748	TAATGGGC others(14): Show TAATGGGCTTTGGTTGAATGAA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03195.hp1 HG03486.hp2 others(2): Show HG02717.hp1 HG03195.hp1 HG03486.hp2 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0020 a0001c0002t0001	a0001c0001t0001g0039 a0001c0001t0001g0065 a0001c0001t0005g0015 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0065 a0001c0001t0005g0015 a0001c0001t0020g0005 a0001c0002t0001g0008	5	66	0.0758	-21	c.273 others(36): Show c.273+403_273+423delATGGGCTTTGGTTGAATGAAA		NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	124616437	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03041.hp1 NA19240.hp1 HG02486.hp2 HG03041.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0038 a0001c0001t0003g0033 a0001c0002t0001g0025 a0001c0001t0001g0038 a0001c0001t0003g0033 a0001c0002t0001g0025	3	20	0.1500	-21	c.274 others(40): Show c.274-41715_274-41695delTTTTTTTTTTTTTTTTTTTTT		NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN3_chr8_62243854_62989904	62763221	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp2 HG02717.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0082 a0001c0001t0020 a0001c0001t0082	a0001c0001t0020g0070 a0001c0001t0082g0079 a0001c0001t0020g0070 a0001c0001t0082g0079	2	23	0.0870	-21	c.471 others(40): Show c.471+16112_471+16132delAAAAAAAAAAAAAAAAAAAAA		NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAIN4_chr20_63235784_63259463	63239823	GGCGGCCA others(14): Show GGCGGCCACCATAGCTCTGCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	352	0.0028	-21	c.16 others(32): Show c.1653_*1673delAGGCAGAGCTATGGTGGCCGC		NKAIN4	ENSG00000101198.15	transcript	ENST00000370316.8	protein_coding					960		chr20	TogoVar
NKD2_chr5_1003802_1043943	1036496	CCCCCCAA others(14): Show CCCCCCAACCCCCCCCACCCCA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02970.hp1 HG02109.hp2 HG02572.hp1 HG02970.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098 a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098	3	318	0.0094	-21	c.787 others(36): Show c.787+117_787+137delCAACCCCCCCCACCCCACCCC		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
NKX2-3_chr10_99527942_99541524	99539310	CCTGCGTT others(14): Show CCTGCGTTGGTCTTCCTTCACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02132.hp2 HG02027.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	402	0.0050	-21	c.35 others(32): Show c.3590_*3610delCTGCGTTGGTCTTCCTTCACT		NKX2-3	ENSG00000119919.12	transcript	ENST00000344586.9	protein_coding					2787		chr10	TogoVar
NKX2-5_chr5_173227109_173240206	173235350	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	79	0.0127	-21	c.-28 others(30): Show c.-288_-268delTTTTTTTTTTTTTTTTTTTTT		NKX2-5	ENSG00000183072.10	transcript	ENST00000329198.5	protein_coding					145		chr5	TogoVar
NKX2-6_chr8_23696740_23711756	23708481	CCTTCTTC others(14): Show CCTTCTTCTTCTTCCTCCTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02258.hp2 HG03831.hp1 others(4): Show HG01261.hp2 HG02258.hp2 HG03831.hp1 NA18971.hp2 NA18982.hp1 NA19060.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0020g0046 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0020g0046	7	380	0.0184	-21	c.-19 others(32): Show c.-1904_-1884delAGGAGGAGGAAGAAGAAGAAG		NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding					1726		chr8	TogoVar
NKX2-6_chr8_23696740_23711756	23708495	CTCCTCCT others(14): Show CTCCTCCTCTTCTTCTTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	308	0.0032	-21	c.-19 others(32): Show c.-1918_-1898delAGAAGAAGAAGAAGAGGAGGA		NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding					1740		chr8	TogoVar
NKX2-6_chr8_23696740_23711756	23708498	CTCCTCTT others(14): Show CTCCTCTTCTTCTTCTTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	156	0.0064	-21	c.-19 others(32): Show c.-1921_-1901delAGAAGAAGAAGAAGAAGAGGA		NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding					1743		chr8	TogoVar
NLGN1_chr3_173392744_174299372	174154808	AAGATATT others(14): Show AAGATATTGTAGATAGATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01255.hp1 HG02055.hp1 others(17): Show HG01192.hp1 HG01255.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02723.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0032 a0001c0004t0007 a0001c0005t0035 a0001c0007t0027	a0001c0001t0002g0007 a0001c0001t0003g0026 a0001c0001t0017g0023 others(17): Show a0001c0001t0002g0007 a0001c0001t0003g0026 a0001c0001t0017g0023 a0001c0001t0020g0034 a0001c0001t0021g0036 a0001c0001t0025g0002 a0001c0001t0030g0040 a0001c0001t0031g0001 a0001c0001t0033g0044 a0001c0001t0036g0035 a0001c0001t0037g0009 a0001c0001t0039g0006 a0001c0001t0040g0005 a0001c0002t0010g0010 a0001c0002t0011g0014 a0001c0002t0012g0015 a0001c0002t0032g0013 a0001c0004t0007g0041 a0001c0005t0035g0016 a0001c0007t0027g0020	20	44	0.4545	-21	c.707 others(42): Show c.707-120485_707-120465delAGATATTGTAGATAGATATAT		NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
NLGN4Y_chrY_14519529_14850654	14722866	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01256.hp1 HG01258.hp1 others(5): Show HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01433.hp1 HG02735.hp1 NA18953.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0038 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0002g0107	8	28	0.2857	-21	c.533 others(36): Show c.533-226_533-206delAAAAAAAAAAAAAAAAAAAAA		NLGN4Y	ENSG00000165246.15	transcript	ENST00000684976.1	protein_coding	3/6					INFO_REALIGN_3_PRIME	chrY	TogoVar
NLK_chr17_28037677_28201381	28199674	AAAAAAAA others(14): Show AAAAAAAAAAACAAAACAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	106	0.0094	-21	c.50 others(32): Show c.5039_*5059delAAAAAAAAAACAAAACAAAAC		NLK	ENSG00000087095.13	transcript	ENST00000407008.8	protein_coding					3294		chr17	TogoVar
NLRP12_chr19_53788741_53829314	53791688	TGTATTGA others(14): Show TGTATTGAAATGGGAATATGCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0019 a0001c0003t0002g0019	1	414	0.0024	-21	c.23 others(32): Show c.2340_*2360delTGCATATTCCCATTTCAATAC		NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding					2052		chr19	TogoVar
NLRP13_chr19_55890945_55937336	55913486	GTTGCAGT others(14): Show GTTGCAGTGAGCCGAGAGGCAC	G G	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0332 a0001c0002t0001g0332	1	438	0.0023	-21	c.524 others(36): Show c.524-214_524-194delGTGCCTCTCGGCTCACTGCAA		NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	4/10						chr19	TogoVar
NLRP2_chr19_54961374_55006138	55000270	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0032 a0032	a0032c0067 a0032c0067	a0032c0067t0001 a0032c0067t0001	a0032c0067t0001g0377 a0032c0067t0001g0377	1	36	0.0278	-21	c.305 others(38): Show c.3051-471_3051-451delTTTTTTTTTTTTTTTTTTTTT		NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850013	GACTGCGG others(14): Show GACTGCGGTGTGATTTCCGAGA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18980.hp2 NA18998.hp1 NA18945.hp2 NA18980.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0010g0366 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0010g0366	3	375	0.0080	-21	c.-65 others(38): Show c.-65-2002_-65-1982delACTGCGGTGTGATTTCCGAGA		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9						chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851512	TGGCTGCG others(14): Show TGGCTGCGGTGTAATTTACCGA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02015.hp2 HG02071.hp2 others(1): Show HG01358.hp2 HG02015.hp2 HG02071.hp2 HG02523.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0008 a0007c0029 a0001c0001 a0003c0008 a0007c0029	a0001c0001t0004 a0003c0008t0001 a0007c0029t0001 a0001c0001t0004 a0003c0008t0001 a0007c0029t0001	a0001c0001t0004g0096 a0003c0008t0001g0068 a0003c0008t0001g0155 others(1): Show a0001c0001t0004g0096 a0003c0008t0001g0068 a0003c0008t0001g0155 a0007c0029t0001g0065	4	361	0.0111	-21	c.-65 others(36): Show c.-65-489_-65-469delTTACCGAGGCTGCGGTGTAAT		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851529	ACCGAGGC others(14): Show ACCGAGGCTGCGGTGTAATGTC	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0311 a0003c0007t0002g0311	1	147	0.0068	-21	c.-65 others(36): Show c.-65-485_-65-465delCGAGGCTGCGGTGTAATGTCC		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56065472	GTGTTTTT others(14): Show GTGTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02647.hp1 HG02809.hp2 others(2): Show HG02486.hp1 HG02647.hp1 HG02809.hp2 HG02970.hp2 NA18906.hp2	a0004 a0014 a0004 a0014	a0004c0007 a0004c0020 a0004c0053 others(1): Show a0004c0007 a0004c0020 a0004c0053 a0014c0129	a0004c0007t0003 a0004c0020t0003 a0004c0053t0003 others(1): Show a0004c0007t0003 a0004c0020t0003 a0004c0053t0003 a0014c0129t0003	a0004c0007t0003g0162 a0004c0007t0003g0179 a0004c0020t0003g0100 others(2): Show a0004c0007t0003g0162 a0004c0007t0003g0179 a0004c0020t0003g0100 a0004c0053t0003g0309 a0014c0129t0003g0308	5	159	0.0314	-21	c.39 others(32): Show c.3945_*3965delTGTTTTTTTTTTTTTTTTTTT		NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding					3663		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55945915	GTGGCTGG others(14): Show GTGGCTGGAACGTGGTCAGCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01433.hp1 HG03834.hp1 others(1): Show HG01346.hp1 HG01433.hp1 HG03834.hp1 HG04115.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0003 a0007c0009t0009 a0007c0009t0003 a0007c0009t0009	a0007c0009t0003g0292 a0007c0009t0003g0297 a0007c0009t0003g0298 others(1): Show a0007c0009t0003g0292 a0007c0009t0003g0297 a0007c0009t0003g0298 a0007c0009t0009g0291	4	348	0.0115	-21	c.-19 others(32): Show c.-1987_-1967delTGGCTGGAACGTGGTCAGCAA		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					1916		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55957670	TAATTATA others(14): Show TAATTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0004 a0004c0024t0004	a0004c0024t0004g0223 a0004c0024t0004g0223	1	322	0.0031	-21	c.204 others(40): Show c.2042+1571_2042+1591delAATTATATATATATATATATA		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	3/9						chr19	TogoVar
NLRP8_chr19_55942832_55993629	55957671	AATTATAT others(14): Show AATTATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02074.hp1 HG02056.hp1 HG02074.hp1	a0003 a0015 a0003 a0015	a0003c0004 a0015c0022 a0003c0004 a0015c0022	a0003c0004t0016 a0015c0022t0002 a0003c0004t0016 a0015c0022t0002	a0003c0004t0016g0212 a0015c0022t0002g0142 a0003c0004t0016g0212 a0015c0022t0002g0142	2	300	0.0067	-21	c.204 others(40): Show c.2042+1574_2042+1594delTATATATATATATATATATAT		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NMB_chr15_84650132_84663199	84661841	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02027.hp1 HG02055.hp1 others(20): Show HG01884.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02572.hp1 HG02622.hp1 HG02723.hp1 HG02738.hp1 HG02970.hp2 HG03195.hp1 HG04115.hp1 HG06807.hp2 NA18974.hp2 NA18975.hp1 NA18990.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19056.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0002g0025 a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0002g0025	23	53	0.4340	-21	c.-37 others(32): Show c.-3710_-3690delTTTTTTTTTTTTTTTTTTTTT		NMB	ENSG00000197696.10	transcript	ENST00000360476.8	protein_coding					3643		chr15	TogoVar
NME7_chr1_169127531_169372797	169355255	CTATATAT others(14): Show CTATATATAATATATTGTATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(63): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG01168.hp2 HG01169.hp2 HG01361.hp1 HG01496.hp2 HG01975.hp2 HG01978.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02129.hp1 HG02135.hp2 HG02258.hp2 HG02293.hp1 HG02523.hp1 HG02683.hp1 HG02738.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18947.hp2 NA18950.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18972.hp1 NA18974.hp1 NA18980.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18998.hp1 NA18999.hp2 NA19006.hp1 NA19009.hp1 NA19011.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0002	a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0105 others(63): Show a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0141 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0153 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0002t0001g0089 a0001c0006t0002g0128	66	238	0.2773	-21	c.3+1 others(36): Show c.3+12432_3+12452delATATACAATATATTATATATA		NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11						chr1	TogoVar
NME8_chr7_37843597_37905397	37847613	AAGAGGAA others(14): Show AAGAGGAAGGAGAAGGAGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG03225.hp2 HG02965.hp1 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0304 a0003c0003t0002g0305 a0003c0003t0002g0304 a0003c0003t0002g0305	2	388	0.0052	-21	c.-13 others(32): Show c.-1355_-1335delAGAGGAAGGAGAAGGAGAAGG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					983		chr7	TogoVar
NME8_chr7_37843597_37905397	37848225	AAGAAGAA others(14): Show AAGAAGAAGAAGAAGAAGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02040.hp2 HG02071.hp1 others(15): Show HG00408.hp2 HG02040.hp2 HG02071.hp1 HG02155.hp1 HG02300.hp2 HG03017.hp1 NA18747.hp1 NA18950.hp1 NA18954.hp1 NA18988.hp2 NA19004.hp2 NA19010.hp2 NA19057.hp2 NA19065.hp1 NA19072.hp2 NA19076.hp2 NA19084.hp1 NA19091.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0002c0008 others(3): Show a0001c0001 a0002c0002 a0002c0008 a0002c0009 a0002c0020 a0007c0017	a0001c0001t0001 a0002c0002t0001 a0002c0008t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0008t0001 a0002c0009t0001 a0002c0020t0001 a0007c0017t0001	a0001c0001t0001g0232 a0002c0002t0001g0002 a0002c0002t0001g0253 others(10): Show a0001c0001t0001g0232 a0002c0002t0001g0002 a0002c0002t0001g0253 a0002c0008t0001g0028 a0002c0008t0001g0241 a0002c0008t0001g0260 a0002c0008t0001g0261 a0002c0009t0001g0001 a0002c0009t0001g0140 a0002c0009t0001g0238 a0002c0009t0001g0242 a0002c0020t0001g0211 a0007c0017t0001g0237	18	365	0.0493	-21	c.-74 others(30): Show c.-743_-723delAGAAGAAGAAGAAGAAGAAGG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					371		chr7	TogoVar
NME8_chr7_37843597_37905397	37848342	GAAGAAGA others(14): Show GAAGAAGAAGAACAAGAAGAAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	381	0.0026	-21	c.-62 others(30): Show c.-626_-606delAAGAAGAAGAACAAGAAGAAC		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					254		chr7	TogoVar
NMI_chr2_151265470_151294668	151285384	TAGATAGA others(14): Show TAGATAGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	408	0.0025	-21	c.-6- others(36): Show c.-6-2451_-6-2431delTATCTATCTATCTATCTATCT		NMI	ENSG00000123609.11	transcript	ENST00000243346.10	protein_coding	1/7						chr2	TogoVar
NMNAT2_chr1_183243237_183423380	183389812	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0237 a0001c0001t0006g0237	1	251	0.0040	-21	c.85+ others(38): Show c.85+28350_85+28370delTCTTTCTTTCTTTCTTTCTTT		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10						chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183389820	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0147 a0001c0001t0013g0147	1	250	0.0040	-21	c.85+ others(38): Show c.85+28342_85+28362delTCTTTCTTTCTTTCTTTCTTT		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10						chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183389823	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0112 a0001c0001t0011g0112	1	240	0.0042	-21	c.85+ others(38): Show c.85+28339_85+28359delCTTTCTTTCTTTCTTTCTTTC		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10						chr1	TogoVar
NMT2_chr10_15100770_15173693	15112196	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	268	0.0037	-21	c.133 others(38): Show c.1338+579_1338+599delATATATATATATATATATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NMT2_chr10_15100770_15173693	15112198	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	258	0.0039	-21	c.133 others(38): Show c.1338+577_1338+597delAAATATATATATATATATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NMUR2_chr5_152386546_152410279	152407794	ATATATTA others(14): Show ATATATTATATTTATATTATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02630.hp2 HG03471.hp1 others(1): Show HG02615.hp1 HG02630.hp2 HG03471.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0105 a0001c0001t0001g0001 a0001c0001t0001g0105	4	433	0.0092	-21	c.-27 others(32): Show c.-2702_-2682delATATAATATAAATATAATATA		NMUR2	ENSG00000132911.5	transcript	ENST00000255262.4	protein_coding					2516		chr5	TogoVar
NOA1_chr4_56958350_56982606	56973897	TTTGTTCT others(14): Show TTTGTTCTTGCTCACTAAGATC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19058.hp1 NA19058.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0115 a0011c0012t0001g0115	1	408	0.0025	-21	c.124 others(30): Show c.1249_1269delGATCTTAGTGAGCAAGAACAA	p.Asp others(13): Show p.Asp417_Gln423del	NOA1	ENSG00000084092.7	transcript	ENST00000264230.5	protein_coding	2/7	1290/2218	1249/2097	417/698			chr4	TogoVar
NOL4_chr18_33846100_34229913	34110128	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	11	0.0909	-21	c.415 others(38): Show c.415-4989_415-4969delTTTTTTTTTTTTTTTTTTTTT		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	2/10						chr18	TogoVar
NOL6_chr9_33456353_33478924	33475156	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02647.hp1 HG02738.hp2 HG02602.hp1 HG02647.hp1 HG02738.hp2	a0001 a0013 a0001 a0013	a0001c0002 a0013c0025 a0001c0002 a0013c0025	a0001c0002t0003 a0013c0025t0001 a0001c0002t0003 a0013c0025t0001	a0001c0002t0003g0029 a0001c0002t0003g0084 a0013c0025t0001g0086 a0001c0002t0003g0029 a0001c0002t0003g0084 a0013c0025t0001g0086	3	433	0.0069	-21	c.-13 others(32): Show c.-1335_-1315delAAAAATATATATATATATATA		NOL6	ENSG00000165271.17	transcript	ENST00000297990.9	protein_coding					1233		chr9	TogoVar
NOL6_chr9_33456353_33478924	33475158	ATATATAT others(14): Show ATATATATATATATATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 NA19000.hp1 HG00741.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0030 a0001c0002t0003g0008 a0001c0001t0001g0030 a0001c0002t0003g0008	2	409	0.0049	-21	c.-13 others(32): Show c.-1337_-1317delAAAAAAATATATATATATATA		NOL6	ENSG00000165271.17	transcript	ENST00000297990.9	protein_coding					1235		chr9	TogoVar

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