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
IMMP2L_chr7_110657644_111567492	111281178	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA20752.hp1 HG03209.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0013 a0001c0001t0012g0006 a0001c0001t0003g0013 a0001c0001t0012g0006	2	81	0.0247	-38	c.239 others(59): Show c.239+206022_239+206059delTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT		IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	3/5						chr7	TogoVar
IMPACT_chr18_24421670_24458531	24434831	AGTGTATA others(31): Show AGTGTATATATATGTGTGTATATATATGTGTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02451.hp2 others(8): Show HG02055.hp1 HG02145.hp2 HG02451.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG06807.hp1 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0016 a0001c0001t0002g0057 a0001c0001t0006g0031 others(5): Show a0001c0001t0002g0016 a0001c0001t0002g0057 a0001c0001t0006g0031 a0001c0001t0006g0056 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0062	11	400	0.0275	-38	c.282 others(55): Show c.282-3107_282-3070delGTATATATATGTGTATATATATGTGTAT ATATATGTGT		IMPACT	ENSG00000154059.11	transcript	ENST00000284202.9	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr18	TogoVar
IMPG1_chr6_75916114_76077662	75916661	TAAGCTTT others(31): Show TAAGCTTTTTTCCTAACCAGTAGTGAGTAAAGTTCTTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0003 a0011c0011t0003	a0011c0011t0003g0122 a0011c0011t0003g0122	1	300	0.0033	-38	c.53 others(49): Show c.5390_*5427delTCAAGAACTTTACTCACTACTGGTTAGGAAAAAA GCTT		IMPG1	ENSG00000112706.12	transcript	ENST00000369950.8	protein_coding					4452		chr6	TogoVar
IMPG2_chr3_101217546_101325575	101226225	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00597.hp1 others(98): Show HG00099.hp1 HG00408.hp1 HG00597.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01515.hp1 HG01884.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02965.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18965.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18982.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19012.hp2 NA19043.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19075.hp1 NA19085.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0017 a0004c0007 others(1): Show a0001c0001 a0001c0017 a0004c0007 a0009c0016	a0001c0001t0001 a0001c0001t0030 a0001c0001t0044 others(8): Show a0001c0001t0001 a0001c0001t0030 a0001c0001t0044 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0103 a0001c0017t0001 a0004c0007t0001 a0009c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(72): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0131 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0030g0056 a0001c0001t0030g0058 a0001c0001t0044g0178 a0001c0001t0053g0208 a0001c0001t0054g0184 a0001c0001t0055g0049 a0001c0001t0056g0172 a0001c0001t0103g0185 a0001c0017t0001g0181 a0004c0007t0001g0206 a0004c0007t0001g0210 a0009c0016t0001g0193	101	114	0.8860	-38	c.70 others(47): Show c.706_*743delTATATATATATATATATATATATATATATATATATA TA		IMPG2	ENSG00000081148.12	transcript	ENST00000193391.8	protein_coding	19/19				706		chr3	TogoVar
IMPG2_chr3_101217546_101325575	101232735	GAAATATC others(31): Show GAAATATCTATAGCCTCTAAAGTCAAAATCTGTAACTAC	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	358	0.0028	-38	c.323 others(52): Show c.3233+8_3233+45delGTAGTTACAGATTTTGACTTTAGAGGCTATA GATATTT		IMPG2	ENSG00000081148.12	transcript	ENST00000193391.8	protein_coding	15/18						chr3	TogoVar
INF2_chr14_104684618_104727535	104717257	CCGCCCCC others(31): Show CCGCCCCCACCGGGCAGGGTGCGCTGCCGTCCTCCCAGT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03834.hp2 HG00741.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0062 a0001c0001t0058 a0001c0001t0062	a0001c0001t0058g0033 a0001c0001t0062g0001 a0001c0001t0058g0033 a0001c0001t0062g0001	2	376	0.0053	-38	c.2- others(53): Show c.2-1536_*2-1499delGCCCCCACCGGGCAGGGTGCGCTGCCGTCC TCCCAGTC		INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	22/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
INO80_chr15_40973880_41121280	41046202	CATACATA others(31): Show CATACATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00438.hp2 others(102): Show HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp2 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02965.hp1 HG03017.hp1 HG03195.hp2 HG03209.hp1 HG03491.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18945.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18978.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18994.hp1 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19011.hp1 NA19030.hp2 NA19056.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19083.hp2 NA19088.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0013 a0002c0005 others(3): Show a0001c0001 a0001c0013 a0002c0005 a0003c0010 a0004c0012 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0001t0020 a0001c0013t0016 a0002c0005t0001 a0003c0010t0001 a0004c0012t0001 a0005c0011t0001	a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0130 others(102): Show a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0002g0181 a0001c0001t0002g0222 a0001c0001t0003g0058 a0001c0001t0003g0254 a0001c0001t0006g0023 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0015g0032 a0001c0001t0020g0256 a0001c0013t0016g0228 a0002c0005t0001g0170 a0003c0010t0001g0220 a0004c0012t0001g0215 a0005c0011t0001g0165	105	137	0.7664	-38	c.273 others(57): Show c.2736-1165_2736-1128delATATATATATATATATATATATATAT ATATATATGTAT		INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	23/35						chr15	TogoVar
INO80_chr15_40973880_41121280	41099148	GGTGAGAG others(31): Show GGTGAGAGGATTGCTTAAGCCCAGGAAGTCAAGGCTGCA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG04204.hp2 HG02074.hp1 HG04204.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0002 a0001c0004t0011g0003 a0001c0004t0011g0002 a0001c0004t0011g0003	2	280	0.0071	-38	c.-43 others(55): Show c.-43-2833_-43-2796delTGCAGCCTTGACTTCCTGGGCTTAAGCA ATCCTCTCAC		INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	1/35						chr15	TogoVar
INPP4B_chr4_142018160_142851301	142245784	GTGTGTAT others(31): Show GTGTGTATGTATACATATATATGTGTATGTATACATATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG01516.hp2 others(6): Show HG00642.hp2 HG00741.hp1 HG01516.hp2 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03579.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 others(1): Show a0001c0001 a0001c0002 a0001c0012 a0001c0014	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0007 a0001c0002t0010 a0001c0012t0007 a0001c0014t0020	a0001c0001t0001g0023 a0001c0001t0004g0088 a0001c0002t0002g0017 others(6): Show a0001c0001t0001g0023 a0001c0001t0004g0088 a0001c0002t0002g0017 a0001c0002t0002g0049 a0001c0002t0007g0079 a0001c0002t0010g0059 a0001c0002t0010g0060 a0001c0012t0007g0082 a0001c0014t0020g0077	9	79	0.1139	-38	c.689 others(55): Show c.689-7811_689-7774delTATATGTATACATACACATATATATGTA TACATACACA		INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	11/25						chr4	TogoVar
INPP5A_chr10_132532787_132788480	132549878	AGGCATTA others(31): Show AGGCATTAGGGGATGGGGTCAGCCTCGAGTTACTAACCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02738.hp2 HG02922.hp2 others(1): Show HG00639.hp2 HG02738.hp2 HG02922.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0002g0027	4	202	0.0198	-38	c.75+ others(55): Show c.75+11919_75+11956delCCTCGAGTTACTAACCGGGCATTAGGGG ATGGGGTCAG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132737413	GCTGCCGT others(31): Show GCTGCCGTGGGTTAATGTTAGCGCAGCCCTGTCCTCCTA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02109.hp1 HG02145.hp1 others(6): Show HG01261.hp1 HG02109.hp1 HG02145.hp1 HG02486.hp2 HG02809.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0007 others(1): Show a0001c0005 a0001c0006 a0001c0007 a0001c0009	a0001c0005t0001 a0001c0005t0002 a0001c0005t0018 others(5): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0018 a0001c0005t0019 a0001c0006t0001 a0001c0006t0008 a0001c0007t0008 a0001c0009t0008	a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0002g0039 others(6): Show a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0002g0039 a0001c0005t0018g0038 a0001c0005t0019g0035 a0001c0006t0001g0188 a0001c0006t0008g0187 a0001c0007t0008g0144 a0001c0009t0008g0087	9	202	0.0446	-38	c.732 others(57): Show c.732+10518_732+10555delGTTAATGTTAGCGCAGCCCTGTCCTC CTACTGCCGTGG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5E_chr9_136423619_136444845	136428934	CGGTTTCA others(31): Show CGGTTTCAAAAATGGTCTACGTCACCAAGACCATGAGAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0020 a0001c0018t0020	a0001c0018t0020g0086 a0001c0018t0020g0086	1	380	0.0026	-38	c.70 others(47): Show c.703_*740delATCTCATGGTCTTGGTGACGTAGACCATTTTTGAAA CC		INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	10/10				703		chr9	TogoVar
INPP5E_chr9_136423619_136444845	136431685	CCCCAGGC others(31): Show CCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0123 a0001c0006t0004g0123	1	380	0.0026	-38	c.154 others(55): Show c.1549+101_1549+138delCGGGCGTGGAGGGAGATGAGGAAAGGTG AGGGCCTGGG		INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9						chr9	TogoVar
INSRR_chr1_156835063_156864117	156841666	AGACATCC others(31): Show AGACATCCGAGTGGGTGGTGAAGATCCCATCTTTGAGGG	A A	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19007.hp1 NA19007.hp1	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0002 a0011c0023t0002	a0011c0023t0002g0220 a0011c0023t0002g0220	1	354	0.0028	-38	c.348 others(47): Show c.3488_3525delCCCTCAAAGATGGGATCTTCACCACCCACTCGGATG TC	p.Ser others(6): Show p.Ser1163fs	INSRR	ENSG00000027644.5	transcript	ENST00000368195.4	protein_coding	20/22	4021/5200	3488/3894	1163/1297			chr1	TogoVar
INSR_chr19_7107265_7299414	7124570	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0123 a0001c0057t0123	a0001c0057t0123g0113 a0001c0057t0123g0113	1	287	0.0035	-38	c.325 others(55): Show c.3258+675_3258+712delATATATATATATATATATATTTTTTTTT TTTTTTTTTT		INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21						chr19	TogoVar
INSR_chr19_7107265_7299414	7151149	CCTTTCTT others(31): Show CCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0133 a0001c0004t0035g0133	1	89	0.0112	-38	c.223 others(55): Show c.2232-655_2232-618delAAAGAAAGAAAGAAAGAAAGAAAGAGAA AGAAAGAAAG		INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	10/21						chr19	TogoVar
INTS8_chr8_94818287_94886746	94824777	CCCAAACT others(31): Show CCCAAACTCCCCCCCCCCCCACCCACCCCCCCAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	308	0.0032	-38	c.131 others(52): Show c.131-109_131-72delTCCCCCCCCCCCCACCCACCCCCCCAAAAAA ACCAAAC		INTS8	ENSG00000164941.14	transcript	ENST00000523731.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr8	TogoVar
INTU_chr4_127627957_127731737	127640538	GATACATA others(31): Show GATACATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG03471.hp1 HG02109.hp1 HG02258.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0013 a0001c0001t0018g0130 a0001c0001t0018g0013 a0001c0001t0018g0130	3	277	0.0108	-38	c.147 others(55): Show c.147-2979_147-2942delCATATATATATATATATATATATATATA TATATATATA		INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
IPCEF1_chr6_154149496_154361803	154357846	ATAAAATA others(31): Show ATAAAATATATATATAAAATATATATATATATAAAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03516.hp1 HG02258.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0246 a0001c0001t0011g0242 a0001c0001t0005g0246 a0001c0001t0011g0242	2	247	0.0081	-38	c.-12 others(49): Show c.-1274_-1237delATATTTTATATATATATATATTTTATATATATAT TTTA		IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding					1044		chr6	TogoVar
IQANK1_chr8_143729139_143795645	143748675	AATATATA others(31): Show AATATATATCATATATATCATATATAAATATATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0027 a0027	a0027c0021 a0027c0021	a0027c0021t0001 a0027c0021t0001	a0027c0021t0001g0335 a0027c0021t0001g0335	1	348	0.0029	-38	c.175 others(55): Show c.175+8732_175+8769delATATCATATATATCATATATAAATATAT AAATATATAT		IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
IQANK1_chr8_143729139_143795645	143748720	TATATATC others(31): Show TATATATCATATATAAATATATAAATATATATCATATAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0010 a0009c0009t0001g0010	1	348	0.0029	-38	c.175 others(55): Show c.175+8779_175+8816delCATATATAAATATATAAATATATATCAT ATAAATATAT		IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
IQCA1_chr2_236319151_236512476	236379275	TGACAGGA others(31): Show TGACAGGACCAAGGGGAGGGAACCCCCAAACAGGGGAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00642.hp1 others(19): Show HG00099.hp1 HG00280.hp1 HG00642.hp1 HG01109.hp2 HG01257.hp2 HG01261.hp2 HG01433.hp1 HG01934.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02965.hp2 HG03239.hp1 HG03579.hp2 HG03710.hp1 HG03927.hp1 HG04228.hp2 NA18522.hp2 NA19030.hp2 NA19080.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0019 others(1): Show a0001c0001 a0001c0004 a0001c0019 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0004t0001 a0001c0004t0002 a0001c0019t0001 a0001c0022t0008	a0001c0001t0001g0047 a0001c0001t0001g0164 a0001c0001t0002g0146 others(19): Show a0001c0001t0001g0047 a0001c0001t0001g0164 a0001c0001t0002g0146 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0127 a0001c0001t0005g0173 a0001c0001t0010g0018 a0001c0004t0001g0122 a0001c0004t0002g0076 a0001c0004t0002g0084 a0001c0004t0002g0090 a0001c0004t0002g0101 a0001c0004t0002g0116 a0001c0004t0002g0128 a0001c0004t0002g0131 a0001c0004t0002g0133 a0001c0004t0002g0147 a0001c0004t0002g0148 a0001c0004t0002g0149 a0001c0019t0001g0105 a0001c0022t0008g0022	22	187	0.1176	-38	c.147 others(57): Show c.1478+1256_1478+1293delGCTCCCCTGTTTGGGGGTTCCCTCCC CTTGGTCCTGTC		IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	12/18						chr2	TogoVar
IQCB1_chr3_121764761_121840060	121807174	AAGTATAT others(31): Show AAGTATATAGTGCATATACTTGTATATACATTATATACG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	184	0.0054	-38	c.587 others(53): Show c.587+132_587+169delCGTATATAATGTATATACAAGTATATGCAC TATATACT		IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	7/14						chr3	TogoVar
IQCG_chr3_197884077_197964991	197904019	CATACATA others(31): Show CATACATATATATATACATACATATATATACATACATAT	C C	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	278	0.0036	-38	c.963 others(55): Show c.963+8618_963+8655delATATGTATGTATATATATGTATGTATAT ATATATGTAT		IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	9/11						chr3	TogoVar
IQCG_chr3_197884077_197964991	197941312	CTTTCTTC others(31): Show CTTTCTTCCTTCCTTCCTCTCTCTCTCCCCTCTGTCTCT	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	278	0.0036	-38	c.282 others(55): Show c.282+2428_282+2465delAGAGACAGAGGGGAGAGAGAGAGGAAGG AAGGAAGAAA		IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	4/11						chr3	TogoVar
IQCG_chr3_197884077_197964991	197941340	CCTCTGTC others(31): Show CCTCTGTCTCTTTCTTTCCCTTCCTTCCTTCCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG01346.hp1 others(22): Show HG00140.hp2 HG00423.hp2 HG01346.hp1 HG02109.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03491.hp2 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18943.hp2 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18977.hp1 NA19003.hp2 NA19030.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0123 a0001c0001t0001g0214 a0001c0001t0002g0004 others(22): Show a0001c0001t0001g0123 a0001c0001t0001g0214 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0003t0001g0032 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0055 a0001c0003t0001g0099 a0002c0002t0001g0103	25	205	0.1220	-38	c.282 others(55): Show c.282+2400_282+2437delAGAGGGAGGAAGGAAGGAAGGGAAAGAA AGAGACAGAG		IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	4/11						chr3	TogoVar
IQGAP1_chr15_90383242_90507239	90422622	ATATGTAT others(31): Show ATATGTATATATATATATGTATATGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG01975.hp1 others(8): Show HG01243.hp1 HG01433.hp2 HG01975.hp1 HG02145.hp2 HG02572.hp2 HG02602.hp2 HG02698.hp2 HG03453.hp1 HG03516.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0197 a0001c0001t0001g0211 a0001c0001t0001g0254 others(8): Show a0001c0001t0001g0197 a0001c0001t0001g0211 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0275 a0001c0002t0004g0187 a0001c0002t0004g0188 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0345	11	251	0.0438	-38	c.156 others(55): Show c.156-3484_156-3447delGTATATATATATATGTATATGTATATAT ATATATGTAT		IQGAP1	ENSG00000140575.13	transcript	ENST00000268182.10	protein_coding	2/37					INFO_REALIGN_3_PRIME	chr15	TogoVar
ITGA8_chr10_15508954_15724922	15694284	AGATAATA others(31): Show AGATAATATATCATATATATGATAATATATCATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG01074.hp2 others(34): Show HG00099.hp1 HG00621.hp2 HG01074.hp2 HG01099.hp1 HG01891.hp2 HG01934.hp2 HG01978.hp1 HG02258.hp2 HG02615.hp2 HG02965.hp1 HG02970.hp1 HG03239.hp1 HG03492.hp2 HG03516.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18951.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18966.hp2 NA18968.hp1 NA18983.hp1 NA18998.hp1 NA19002.hp1 NA19006.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp2 NA19064.hp1 NA19070.hp2 NA19087.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0013	a0001c0001 a0001c0008 a0001c0011 others(5): Show a0001c0001 a0001c0008 a0001c0011 a0002c0002 a0002c0006 a0003c0003 a0005c0005 a0013c0028	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(13): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0024 a0001c0001t0027 a0001c0008t0010 a0001c0011t0010 a0002c0002t0012 a0002c0006t0016 a0003c0003t0006 a0003c0003t0007 a0005c0005t0006 a0013c0028t0006	a0001c0001t0004g0095 a0001c0001t0006g0001 a0001c0001t0006g0024 others(34): Show a0001c0001t0004g0095 a0001c0001t0006g0001 a0001c0001t0006g0024 a0001c0001t0006g0027 a0001c0001t0006g0029 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0007g0008 a0001c0001t0007g0018 a0001c0001t0011g0020 a0001c0001t0011g0021 a0001c0001t0011g0023 a0001c0001t0013g0005 a0001c0001t0013g0019 a0001c0001t0017g0014 a0001c0001t0017g0026 a0001c0001t0024g0022 a0001c0001t0027g0042 a0001c0008t0010g0035 a0001c0008t0010g0038 a0001c0011t0010g0036 a0002c0002t0012g0002 a0002c0002t0012g0025 a0002c0002t0012g0028 a0002c0006t0016g0034 a0002c0006t0016g0037 a0003c0003t0006g0009 a0003c0003t0006g0013 a0003c0003t0007g0006 a0003c0003t0007g0007 a0003c0003t0007g0010 a0003c0003t0007g0011 a0003c0003t0007g0012 a0003c0003t0007g0015 a0003c0003t0007g0030 a0005c0005t0006g0016 a0013c0028t0006g0017	37	210	0.1762	-38	c.344 others(55): Show c.344-6284_344-6247delATATATATGATATATTATCATATATATG ATATATTATC		ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	2/29						chr10	TogoVar
ITGA8_chr10_15508954_15724922	15694303	TGATAATA others(31): Show TGATAATATATCATATATATGATAATATATCATATATCA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03195.hp2 HG03225.hp2 HG01070.hp1 HG03195.hp2 HG03225.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0023 a0001c0001 a0012c0023	a0001c0001t0036 a0001c0001t0039 a0012c0023t0038 a0001c0001t0036 a0001c0001t0039 a0012c0023t0038	a0001c0001t0036g0213 a0001c0001t0039g0215 a0012c0023t0038g0214 a0001c0001t0036g0213 a0001c0001t0039g0215 a0012c0023t0038g0214	3	210	0.0143	-38	c.344 others(55): Show c.344-6303_344-6266delTGATATATGATATATTATCATATATATG ATATATTATC		ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	2/29						chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737648	CTATATTA others(31): Show CTATATTATATTCTATATTATATTCTATATTTTCTATAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0335 a0001c0002t0001g0335	1	364	0.0027	-38	c.195 others(55): Show c.1958-966_1958-929delATATTCTATATTATATTCTATATTTTCT ATATTATATT		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737661	TATATTAT others(31): Show TATATTATATTCTATATTTTCTATATTATATTCTATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01884.hp1 NA19085.hp1 HG00323.hp2 HG01884.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0003g0283 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0003g0283	3	378	0.0079	-38	c.195 others(55): Show c.1958-954_1958-917delATATTCTATATTTTCTATATTATATTCT ATATAATATT		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH5_chr10_7554270_7671966	7556070	ATATATAT others(31): Show ATATATATATGTATATATATATATATATATGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02970.hp2 HG02965.hp2 HG02970.hp2	a0007 a0007	a0007c0011 a0007c0065 a0007c0011 a0007c0065	a0007c0011t0030 a0007c0065t0007 a0007c0011t0030 a0007c0065t0007	a0007c0011t0030g0260 a0007c0065t0007g0147 a0007c0011t0030g0260 a0007c0065t0007g0147	2	340	0.0059	-38	c.69 others(49): Show c.6975_*7012delCACACACACATATATATATATATATATACATATA TATA		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding					3199		chr10	TogoVar
ITPR2_chr12_26330352_26838194	26567968	ATTATATA others(31): Show ATTATATATATTATATATATATATATATATTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0043 a0001c0008t0043	a0001c0008t0043g0111 a0001c0008t0043g0111	1	139	0.0072	-38	c.463 others(57): Show c.4631-6054_4631-6017delATATATATAATATATATATATATATA TAATATATATAA		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26782011	TATATATA others(31): Show TATATATATATATATATATATATGTATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02738.hp1 HG03486.hp2 others(1): Show HG02132.hp2 HG02738.hp1 HG03486.hp2 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0010	a0001c0001t0003 a0001c0002t0006 a0001c0004t0011 others(1): Show a0001c0001t0003 a0001c0002t0006 a0001c0004t0011 a0002c0010t0007	a0001c0001t0003g0071 a0001c0002t0006g0028 a0001c0004t0011g0130 others(1): Show a0001c0001t0003g0071 a0001c0002t0006g0028 a0001c0004t0011g0130 a0002c0010t0007g0090	4	131	0.0305	-38	c.163 others(55): Show c.163+8108_163+8145delCTCTCTCTCTCTATACATATATATATAT ATATATATAT		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26782013	TATATATA others(31): Show TATATATATATATATATATATGTATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG02896.hp2 others(8): Show HG02451.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03453.hp1 HG03453.hp2 HG03942.hp2 NA18960.hp2 NA18980.hp1 NA19090.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0035 a0001c0048 a0002c0017 a0003c0047	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0003t0033 a0001c0005t0016 a0001c0035t0027 a0001c0048t0012 a0002c0017t0018 a0003c0047t0004	a0001c0001t0001g0047 a0001c0001t0001g0072 a0001c0001t0003g0095 others(8): Show a0001c0001t0001g0047 a0001c0001t0001g0072 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0010g0129 a0001c0003t0033g0088 a0001c0005t0016g0012 a0001c0035t0027g0013 a0001c0048t0012g0091 a0002c0017t0018g0109 a0003c0047t0004g0083	11	132	0.0833	-38	c.163 others(55): Show c.163+8106_163+8143delCTCTCTCTCTCTCTATACATATATATAT ATATATATAT		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26782015	TATATATA others(31): Show TATATATATATATATATATGTATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02965.hp1 HG03209.hp2 others(3): Show HG01168.hp2 HG02965.hp1 HG03209.hp2 HG03225.hp2 NA18906.hp2 NA18970.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0001c0016 a0001c0042 others(3): Show a0001c0006 a0001c0016 a0001c0042 a0002c0009 a0002c0017 a0003c0041	a0001c0006t0003 a0001c0016t0042 a0001c0042t0025 others(3): Show a0001c0006t0003 a0001c0016t0042 a0001c0042t0025 a0002c0009t0041 a0002c0017t0018 a0003c0041t0003	a0001c0006t0003g0055 a0001c0016t0042g0107 a0001c0042t0025g0001 others(3): Show a0001c0006t0003g0055 a0001c0016t0042g0107 a0001c0042t0025g0001 a0002c0009t0041g0110 a0002c0017t0018g0108 a0003c0041t0003g0098	6	126	0.0476	-38	c.163 others(55): Show c.163+8104_163+8141delCTCTCTCTCTCTCTCTATACATATATAT ATATATATAT		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26782017	TATATATA others(31): Show TATATATATATATATATGTATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01071.hp1 others(2): Show HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG03017.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0002c0052 a0001c0002 a0001c0007 a0002c0052	a0001c0002t0001 a0001c0002t0017 a0001c0002t0029 others(2): Show a0001c0002t0001 a0001c0002t0017 a0001c0002t0029 a0001c0007t0005 a0002c0052t0001	a0001c0002t0001g0078 a0001c0002t0017g0077 a0001c0002t0029g0079 others(2): Show a0001c0002t0001g0078 a0001c0002t0017g0077 a0001c0002t0029g0079 a0001c0007t0005g0048 a0002c0052t0001g0080	5	135	0.0370	-38	c.163 others(55): Show c.163+8102_163+8139delCTCTCTCTCTCTCTCTCTATACATATAT ATATATATAT		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26782019	TATATATA others(31): Show TATATATATATATATGTATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03492.hp2 NA20805.hp2 HG00140.hp1 HG03492.hp2 NA20805.hp2	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0003 a0001c0012t0006 a0001c0012t0039 a0001c0004t0003 a0001c0012t0006 a0001c0012t0039	a0001c0004t0003g0100 a0001c0012t0006g0087 a0001c0012t0039g0086 a0001c0004t0003g0100 a0001c0012t0006g0087 a0001c0012t0039g0086	3	133	0.0226	-38	c.163 others(55): Show c.163+8100_163+8137delCTCTCTCTCTCTCTCTCTCTATACATAT ATATATATAT		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56						chr12	TogoVar
ITSN1_chr21_33637501_33904861	33690777	ATATATAT others(31): Show ATATATATATATACATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01952.hp1 HG02615.hp1 HG01255.hp2 HG01952.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0001t0020 a0001c0002t0005 a0001c0001t0019 a0001c0001t0020 a0001c0002t0005	a0001c0001t0019g0080 a0001c0001t0020g0070 a0001c0002t0005g0059 a0001c0001t0019g0080 a0001c0001t0020g0070 a0001c0002t0005g0059	3	239	0.0126	-38	c.-32 others(57): Show c.-32-28007_-32-27970delCATATATATATATATATATATATATG TATATATATATA		ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39					INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN1_chr21_33637501_33904861	33876113	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG01175.hp2 others(58): Show HG00323.hp2 HG00621.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02129.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02572.hp1 HG02683.hp1 HG02735.hp2 HG03239.hp2 HG03490.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18948.hp1 NA18951.hp1 NA18956.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA19000.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19059.hp2 NA19060.hp2 NA19067.hp1 NA19079.hp1 NA19082.hp2 NA19088.hp2 NA20752.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0018 a0001c0025 a0001c0030 a0004c0013 a0007c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0037 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0059 a0001c0002t0004 a0001c0002t0005 a0001c0002t0017 a0001c0005t0001 a0001c0006t0004 a0001c0006t0005 a0001c0007t0002 a0001c0018t0006 a0001c0025t0001 a0001c0030t0003 a0004c0013t0001 a0007c0019t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0019 others(58): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0002g0022 a0001c0001t0002g0145 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0003g0015 a0001c0001t0003g0092 a0001c0001t0003g0102 a0001c0001t0003g0160 a0001c0001t0003g0229 a0001c0001t0004g0215 a0001c0001t0037g0121 a0001c0001t0050g0049 a0001c0001t0051g0134 a0001c0001t0052g0090 a0001c0001t0059g0136 a0001c0002t0004g0029 a0001c0002t0004g0050 a0001c0002t0004g0116 a0001c0002t0004g0141 a0001c0002t0004g0159 a0001c0002t0005g0059 a0001c0002t0017g0194 a0001c0005t0001g0014 a0001c0005t0001g0109 a0001c0006t0004g0201 a0001c0006t0005g0187 a0001c0007t0002g0038 a0001c0018t0006g0137 a0001c0025t0001g0091 a0001c0030t0003g0202 a0004c0013t0001g0204 a0007c0019t0001g0012	61	240	0.2542	-38	c.434 others(55): Show c.4341+594_4341+631delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT		ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	34/39					INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24229043	GCAACTAA others(31): Show GCAACTAACAGGAAAGCCTCAAAGTGTAAAATAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(204): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01934.hp1 HG01934.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18980.hp2 NA18981.hp1 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0005 a0001c0018 others(19): Show a0001c0001 a0001c0005 a0001c0018 a0001c0021 a0001c0022 a0002c0002 a0002c0024 a0003c0003 a0003c0007 a0003c0014 a0003c0016 a0004c0004 a0005c0006 a0006c0008 a0007c0015 a0008c0012 a0009c0009 a0010c0017 a0011c0019 a0012c0013 a0013c0020 a0014c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0005t0001 a0001c0018t0001 a0001c0021t0001 a0001c0022t0001 a0002c0002t0001 a0002c0024t0001 a0003c0003t0001 a0003c0003t0006 a0003c0007t0001 a0003c0014t0001 a0003c0016t0001 a0004c0004t0001 a0004c0004t0004 a0005c0006t0001 a0006c0008t0001 a0007c0015t0001 a0008c0012t0001 a0009c0009t0001 a0010c0017t0001 a0011c0019t0001 a0012c0013t0001 a0013c0020t0001 a0014c0023t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(203): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0007g0003 a0001c0001t0008g0154 a0001c0005t0001g0151 a0001c0018t0001g0199 a0001c0021t0001g0116 a0001c0022t0001g0107 a0002c0002t0001g0035 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0181 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0024t0001g0180 a0003c0003t0001g0001 a0003c0003t0001g0017 a0003c0003t0001g0038 a0003c0003t0001g0127 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0193 a0003c0003t0001g0196 a0003c0003t0001g0197 a0003c0003t0001g0200 a0003c0003t0006g0002 a0003c0007t0001g0036 a0003c0007t0001g0037 a0003c0014t0001g0189 a0003c0016t0001g0201 a0004c0004t0001g0004 a0004c0004t0001g0005 a0004c0004t0001g0006 a0004c0004t0001g0007 a0004c0004t0001g0009 a0004c0004t0001g0010 a0004c0004t0001g0011 a0004c0004t0001g0012 a0004c0004t0001g0013 a0004c0004t0001g0015 a0004c0004t0001g0019 a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0023 a0004c0004t0001g0024 a0004c0004t0001g0025 a0004c0004t0001g0026 a0004c0004t0001g0027 a0004c0004t0001g0028 a0004c0004t0001g0029 a0004c0004t0001g0129 a0004c0004t0004g0008 a0004c0004t0004g0014 a0004c0004t0004g0016 a0005c0006t0001g0202 a0005c0006t0001g0203 a0005c0006t0001g0204 a0006c0008t0001g0097 a0006c0008t0001g0099 a0007c0015t0001g0182 a0008c0012t0001g0018 a0009c0009t0001g0163 a0010c0017t0001g0207 a0011c0019t0001g0153 a0012c0013t0001g0198 a0013c0020t0001g0073 a0014c0023t0001g0110	207	222	0.9324	-38	c.357 others(57): Show c.3578-8015_3578-7978delTTTTTTTATTTTACACTTTGAGGCTT TCCTGTTAGTTG		ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	29/39						chr2	TogoVar
IVD_chr15_40400795_40426308	40418562	AGCCCACC others(31): Show AGCCCACCTCCCAGGGTAGGCACCTGGGGGCATGCAGGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG00741.hp1 others(19): Show HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01167.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01515.hp1 HG02145.hp1 HG02257.hp1 HG02622.hp1 HG02717.hp1 HG03139.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp2 HG03688.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0041 a0001c0002t0004g0105 others(1): Show a0001c0002t0004g0004 a0001c0002t0004g0041 a0001c0002t0004g0105 a0001c0002t0004g0106	22	376	0.0585	-38	c.33 others(47): Show c.338_*375delGCCCACCTCCCAGGGTAGGCACCTGGGGGCATGCAG GT		IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding	12/12				338	INFO_REALIGN_3_PRIME	chr15	TogoVar
IZUMO3_chr9_24537952_24550897	24547226	ATCACAGT others(31): Show ATCACAGTGGAATGTTGTGCGGGAAGTTAAAAGAATTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0070 a0007c0007t0002g0070	1	424	0.0024	-38	c.-16 others(49): Show c.-1615_-1578delGTAATTCTTTTAACTTCCCGCACAACATTCCACT GTGA		IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding					1330		chr9	TogoVar
JADE3_chrX_46907421_47066242	46999397	TTATATAT others(31): Show TTATATATATATATATAACATATATATACATATATAACA	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03669.hp2 HG02735.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0022 a0001c0001t0020 a0001c0001t0022	a0001c0001t0020g0003 a0001c0001t0022g0002 a0001c0001t0020g0003 a0001c0001t0022g0002	2	234	0.0085	-38	c.284 others(55): Show c.284+1171_284+1208delTATAACATATATATACATATATAACATA TATATATATA		JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	4/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
JAKMIP1_chr4_6021199_6205549	6098701	AAAGAAAG others(31): Show AAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01168.hp1 HG01515.hp1 others(8): Show HG01123.hp2 HG01168.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG02486.hp1 HG03239.hp2 NA18949.hp1 NA18986.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0025 others(8): Show a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0072 a0001c0001t0001g0114 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0151 a0001c0001t0001g0207 a0001c0001t0004g0223	11	232	0.0474	-38	c.624 others(55): Show c.624+6734_624+6771delCTTCTCTTTCTTTCTTTTTCTTTCTTTC TTTCTTTCTT		JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	3/20						chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147764931	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp2 HG02451.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0081 a0001c0001t0001g0082	2	247	0.0081	-38	c.-14 others(59): Show c.-149+17487_-149+17524delCCCCTCTCTCTCTCTCTCTCTCCC TCTCTCTCTCTCTC		JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21						chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132067643	CTCTGGGC others(31): Show CTCTGGGCTTCCGTGTGGACTGGACTGTGGGCTTCCATG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0146 a0004c0009t0002g0146	1	156	0.0064	-38	c.-13 others(57): Show c.-138+1584_-138+1621delCTGGGCTTCCGTGTGGACTGGACTGT GGGCTTCCATGT		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132067743	CTGGACTG others(31): Show CTGGACTGTGGGCTTCCGTGTGGACTCTGGGCTTCCGTG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0024 a0001c0006t0024	a0001c0006t0024g0155 a0001c0006t0024g0155	1	156	0.0064	-38	c.-13 others(57): Show c.-138+1708_-138+1745delCTGGGCTTCCGTGTGGACTGTGGGCT TCCGTGTGGACT		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132122202	CGGGGCCC others(31): Show CGGGGCCCTGACTGCCCCCCGGTCGGCTCCCCGGCTGTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02132.hp1 HG02523.hp1 others(7): Show HG01175.hp1 HG02132.hp1 HG02523.hp1 HG02717.hp2 HG03654.hp2 HG04228.hp2 NA18522.hp1 NA18952.hp2 NA18960.hp2 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0015 a0001c0017 a0001c0034 others(6): Show a0001c0015 a0001c0017 a0001c0034 a0002c0004 a0002c0025 a0004c0007 a0004c0033 a0004c0045 a0004c0046	a0001c0015t0001 a0001c0015t0002 a0001c0017t0029 others(7): Show a0001c0015t0001 a0001c0015t0002 a0001c0017t0029 a0001c0034t0001 a0002c0004t0004 a0002c0025t0008 a0004c0007t0004 a0004c0033t0002 a0004c0045t0001 a0004c0046t0007	a0001c0015t0001g0017 a0001c0015t0002g0018 a0001c0017t0029g0012 others(7): Show a0001c0015t0001g0017 a0001c0015t0002g0018 a0001c0017t0029g0012 a0001c0034t0001g0021 a0002c0004t0004g0051 a0002c0025t0008g0033 a0004c0007t0004g0092 a0004c0033t0002g0028 a0004c0045t0001g0090 a0004c0046t0007g0091	10	156	0.0641	-38	c.633 others(55): Show c.633+4704_633+4741delTGGGGCCCTGACTGCCCCCCGGTCGGCT CCCCGGCTGT		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132149757	CCACCCCG others(31): Show CCACCCCGCCCTACCTCACCCCTGCCCCCACCCCACCCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp2 HG02280.hp1 others(6): Show HG01243.hp1 HG01361.hp2 HG02280.hp1 HG02523.hp1 HG02717.hp2 HG03098.hp1 NA18983.hp1 NA18983.hp2 NA19081.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0015 a0001c0019 others(5): Show a0001c0001 a0001c0015 a0001c0019 a0002c0023 a0002c0025 a0002c0029 a0002c0031 a0003c0018	a0001c0001t0001 a0001c0015t0001 a0001c0015t0002 others(6): Show a0001c0001t0001 a0001c0015t0001 a0001c0015t0002 a0001c0019t0014 a0002c0023t0003 a0002c0025t0008 a0002c0029t0014 a0002c0031t0037 a0003c0018t0003	a0001c0001t0001g0117 a0001c0015t0001g0030 a0001c0015t0002g0018 others(6): Show a0001c0001t0001g0117 a0001c0015t0001g0030 a0001c0015t0002g0018 a0001c0019t0014g0085 a0002c0023t0003g0073 a0002c0025t0008g0033 a0002c0029t0014g0053 a0002c0031t0037g0088 a0003c0018t0003g0101	9	155	0.0581	-38	c.194 others(55): Show c.1948-224_1948-187delCACCCCGCCCTACCTCACCCCTGCCCCC ACCCCACCCT		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	15/23						chr10	TogoVar

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