Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	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
HTRA3_chr4_8264754_8312098	8289898	TGGCCTCA others(53): Show TGGCCTCACCTGTGCGCCCTCCTTGGGTGCAGGGAGGATGGGCTGACCCT CCCCAGTTCAC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	388	0.0026	-60	c.709 others(77): Show c.709-1457_709-1398delGCCCTCCTTGGGTGCAGGGAGGATGGGC TGACCCTCCCCAGTTCACGGCCTCACCTGTGC		HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
HYOU1_chr11_119039188_119062205	119061379	ACCATGAA others(53): Show ACCATGAATACCCCTGGTGGGAGCATGGTTCTGCCACAGCTACAGTTCTC AGCCTGGGTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	414	0.0024	-60	c.-44 others(71): Show c.-4427_-4368delATACCCAGGCTGAGAACTGTAGCTGTGGCAGAAC CATGCTCCCACCAGGGGTATTCATGG		HYOU1	ENSG00000149428.21	transcript	ENST00000617285.5	protein_coding					4175		chr11	TogoVar
IFT140_chr16_1505427_1617072	1507811	GGTGTGTG others(53): Show GGTGTGTGTGTGTGTGTGTGTGATGTGTGTTGGCCCGGGGTGTGTGTGTG TGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0193 a0007c0013t0001g0193	1	334	0.0030	-60	c.30 others(71): Show c.3073_*3132delACACACACACACACACACACACCCCGGGCCAACA CACATCACACACACACACACACACAC		IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding					2615		chr16	TogoVar
IFT140_chr16_1505427_1617072	1533050	TCCTCCAA others(53): Show TCCTCCAAGTACAGGTCCCTGGCCCCGAGGTCCTCCAAGTACAGGTCCCT GGCCCCAAGGC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02965.hp2 others(1): Show HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0104 a0001c0002t0001g0333 a0001c0002t0001g0334 others(1): Show a0001c0002t0001g0104 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0004t0001g0077	4	334	0.0120	-60	c.240 others(79): Show c.2400-6314_2400-6255delGCCTTGGGGCCAGGGACCTGTACTTG GAGGACCTCGGGGCCAGGGACCTGTACTTGGAGG		IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	19/30						chr16	TogoVar
IGF2R_chr6_159964082_160116504	160068615	GGCTGGCA others(53): Show GGCTGGCACTGGTGAGAGAGGACCTCCTCATGGGGTGGTGGTTGCAATGA ATGTATTGAAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0027 a0001c0004t0027	a0001c0004t0027g0287 a0001c0004t0027g0287	1	310	0.0032	-60	c.425 others(77): Show c.4252+251_4252+310delACCTCCTCATGGGGTGGTGGTTGCAATG AATGTATTGAAAGCTGGCACTGGTGAGAGAGG		IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	30/47					INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	160100723	CCTTTTTT others(53): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02895.hp1 NA18522.hp1 HG00140.hp1 HG02895.hp1 NA18522.hp1	a0001 a0007 a0032 a0001 a0007 a0032	a0001c0001 a0007c0014 a0032c0065 a0001c0001 a0007c0014 a0032c0065	a0001c0001t0085 a0007c0014t0011 a0032c0065t0041 a0001c0001t0085 a0007c0014t0011 a0032c0065t0041	a0001c0001t0085g0294 a0007c0014t0011g0092 a0032c0065t0041g0283 a0001c0001t0085g0294 a0007c0014t0011g0092 a0032c0065t0041g0283	3	310	0.0097	-60	c.684 others(79): Show c.6843-1795_6843-1736delCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	45/47						chr6	TogoVar
IL17REL_chr22_49986811_50017765	49994034	GGGGCACC others(53): Show GGGGCACCTGGGTGAGTGGCAGCCTGTATCCCCCCATTCCCCTGATCTCC AGGTTAGGGAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG01074.hp1 HG02818.hp2 others(2): Show HG00280.hp1 HG01074.hp1 HG02818.hp2 NA18955.hp1 NA18964.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0003c0004 a0004c0009 a0001c0003 a0003c0004 a0004c0009	a0001c0003t0034 a0003c0004t0016 a0004c0009t0016 a0001c0003t0034 a0003c0004t0016 a0004c0009t0016	a0001c0003t0034g0074 a0003c0004t0016g0067 a0003c0004t0016g0070 others(2): Show a0001c0003t0034g0074 a0003c0004t0016g0067 a0003c0004t0016g0070 a0003c0004t0016g0073 a0004c0009t0016g0087	5	440	0.0114	-60	c.25 others(71): Show c.2581_*2640delTTCCCTAACCTGGAGATCAGGGGAATGGGGGGAT ACAGGCTGCCACTCACCCAGGTGCCC		IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	15/15				2581		chr22	TogoVar
IL17REL_chr22_49986811_50017765	49994071	TCCCCTGA others(53): Show TCCCCTGATCTCCAGGTTAGGGAAGGGCACCTGGGCGAGTGGCAGCCTGC ATCCCCCCATG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0180 a0001c0001t0051g0180	1	440	0.0023	-60	c.25 others(71): Show c.2544_*2603delCATGGGGGGATGCAGGCTGCCACTCGCCCAGGTG CCCTTCCCTAACCTGGAGATCAGGGG		IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	15/15				2544		chr22	TogoVar
IL1RAPL2_chrX_104561199_105772829	104761881	CCTTCTCC others(53): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTC TTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	141	0.0071	-60	c.82+ others(79): Show c.82+102892_82+102951delCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCT		IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	104761893	CCTTCTCC others(53): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTC TTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	141	0.0071	-60	c.82+ others(79): Show c.82+102904_82+102963delCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT		IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP4A_chr2_98439858_98599392	98472959	TAGAGTGA others(53): Show TAGAGTGAGGAGGGCAGTGCGGGTGCAGTGTAGAGTGAGGAGGGCAGTGT GGGTGCAGTGA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	274	0.0037	-60	c.-16 others(81): Show c.-166+27881_-166+27940delAGGAGGGCAGTGCGGGTGCAGTGT AGAGTGAGGAGGGCAGTGTGGGTGCAGTGAAGAGTG		INPP4A	ENSG00000040933.16	transcript	ENST00000409851.8	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5A_chr10_132532787_132788480	132676951	CAGACCCA others(53): Show CAGACCCACAGGTATTCACATGGTGACCCCCACCGTCACCCAGGCACCTG TCCTGAACTGT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02895.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0176 a0001c0001t0006g0177	2	204	0.0098	-60	c.307 others(79): Show c.307-13407_307-13348delGTCACCCAGGCACCTGTCCTGAACTG TAGACCCACAGGTATTCACATGGTGACCCCCACC		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132676985	GTCACCCA others(53): Show GTCACCCAGGCACCTGTCCTGAACTGTAGACCCACAGGTATTCACATGGT GACCCCCACCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0198 a0001c0001t0009g0198	1	204	0.0049	-60	c.307 others(79): Show c.307-13315_307-13256delCACAGGTATTCACATGGTGACCCCCA CCATCACCCAGGCACCTGTCCTGAACTGTAGACC		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132728985	CGTGGGGC others(53): Show CGTGGGGCTTGTGTGGCCGCTGTGGTCTCAGCAGGCGTGGGGGGCCTGGA CTCCAGGGCCT	C C	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 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0007 a0001c0005 a0001c0006 a0001c0007	a0001c0005t0001 a0001c0005t0002 a0001c0005t0018 others(4): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0018 a0001c0005t0019 a0001c0006t0001 a0001c0006t0008 a0001c0007t0008	a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0002g0039 others(6): Show a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0002g0039 a0001c0005t0002g0040 a0001c0005t0018g0038 a0001c0005t0019g0035 a0001c0006t0001g0188 a0001c0006t0008g0187 a0001c0007t0008g0144	9	204	0.0441	-60	c.732 others(77): Show c.732+2091_732+2150delTGTGGCCGCTGTGGTCTCAGCAGGCGTG GGGGGCCTGGACTCCAGGGCCTGTGGGGCTTG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132755421	TGCATATG others(53): Show TGCATATGAGTGGGTGTGTGCATGAGAGCAGGTGTGAGCGAGTGTGTGTG AGCAGGCATAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02109.hp1 HG02145.hp1 others(5): Show HG01261.hp1 HG02109.hp1 HG02145.hp1 HG02486.hp2 HG02809.hp1 HG03098.hp2 HG03130.hp1 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0007 others(1): Show a0001c0005 a0001c0006 a0001c0007 a0001c0009	a0001c0005t0001 a0001c0005t0018 a0001c0005t0019 others(4): Show a0001c0005t0001 a0001c0005t0018 a0001c0005t0019 a0001c0006t0001 a0001c0006t0008 a0001c0007t0008 a0001c0009t0008	a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0018g0038 others(5): Show a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0018g0038 a0001c0005t0019g0035 a0001c0006t0001g0188 a0001c0006t0008g0187 a0001c0007t0008g0144 a0001c0009t0008g0087	8	204	0.0392	-60	c.903 others(77): Show c.903+5624_903+5683delTGAGCAGGCATACGCATATGAGTGGGTG TGTGCATGAGAGCAGGTGTGAGCGAGTGTGTG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5D_chr2_233055342_233212903	233065563	TTTTCTTT others(53): Show TTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	310	0.0032	-60	c.134 others(77): Show c.134+4968_134+5027delCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC		INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
IPCEF1_chr6_154149496_154361803	154357850	AATATATA others(53): Show AATATATATATAAAATATATATATATATAAAATATATATATATAATATAT ATATAAAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0238 a0001c0001t0004g0238	1	264	0.0038	-60	c.-13 others(71): Show c.-1300_-1241delATATTTTATATATATATTATATATATATATTTTA TATATATATATATTTTATATATATAT		IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding					1048		chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154357906	AATATATA others(53): Show AATATATATATATAATATATATATAAAATATATATATATAATATATATAT AAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01192.hp1 HG02145.hp1 HG00733.hp1 HG01192.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0167 a0001c0001t0002g0168 a0001c0002t0001g0204 a0001c0001t0001g0167 a0001c0001t0002g0168 a0001c0002t0001g0204	3	264	0.0114	-60	c.-13 others(71): Show c.-1356_-1297delATATATATTTTATATATATATTATATATATATAT TTTATATATATATTATATATATATAT		IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding					1104		chr6	TogoVar
IQCM_chr4_149346709_149820843	149368853	CATGTATA others(53): Show CATGTATATATATACATATATACACGTGTATATATATGTATATATATACA CGTGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01071.hp1 others(24): Show HG00642.hp1 HG00738.hp1 HG01071.hp1 HG01255.hp2 HG01517.hp2 HG01891.hp1 HG01993.hp2 HG02074.hp1 HG02135.hp2 HG02698.hp2 HG03209.hp1 HG03516.hp2 HG04228.hp1 NA18944.hp1 NA18957.hp2 NA18965.hp1 NA18966.hp1 NA18982.hp2 NA18988.hp1 NA18989.hp2 NA19002.hp1 NA19030.hp1 NA19062.hp1 NA19064.hp1 NA19084.hp2 NA19091.hp2 NA20752.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0012c0013 a0001c0001 a0001c0002 a0012c0013	a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0012c0013t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0054 others(24): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0054 a0001c0001t0002g0062 a0001c0001t0002g0076 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0128 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0154 a0001c0001t0002g0168 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0210 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0004g0252 a0001c0002t0002g0055 a0001c0002t0002g0063 a0001c0002t0002g0072 a0001c0002t0002g0105 a0001c0002t0002g0125 a0001c0002t0002g0129 a0012c0013t0002g0162	27	252	0.1071	-60	c.139 others(81): Show c.1391-16847_1391-16788delATATATACACGTGTATATATATAC ATATATATACACGTGTATATATGTATATATATACAT		IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13						chr4	TogoVar
IQSEC3_chr12_61767_183455	143581	AGTTCATG others(53): Show AGTTCATGCAGGGCAGTGCTGGGGTGCCAGAGTTCATGCAGGGCAGTGCT GGGGTGCCAGC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02897.hp2 NA18522.hp1 others(1): Show HG02622.hp2 HG02897.hp2 NA18522.hp1 NA19240.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0003 a0002c0001 a0006c0012 others(1): Show a0001c0003 a0002c0001 a0006c0012 a0008c0016	a0001c0003t0001 a0002c0001t0009 a0006c0012t0004 others(1): Show a0001c0003t0001 a0002c0001t0009 a0006c0012t0004 a0008c0016t0007	a0001c0003t0001g0225 a0002c0001t0009g0064 a0006c0012t0004g0065 others(1): Show a0001c0003t0001g0225 a0002c0001t0009g0064 a0006c0012t0004g0065 a0008c0016t0007g0037	4	282	0.0142	-60	c.215 others(79): Show c.2153+2326_2153+2385delAGTTCATGCAGGGCAGTGCTGGGGTG CCAGCGTTCATGCAGGGCAGTGCTGGGGTGCCAG		IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr12	TogoVar
IRF2_chr4_184382729_184479550	184438801	GCATGAAA others(53): Show GCATGAAAATAGTATGTTCGGAGCAAAGATAACAGGACCCCCTATATGAG AGAGGAAGCAT	G G	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0360 a0001c0001t0002g0360	1	376	0.0027	-60	c.-6- others(75): Show c.-6-9791_-6-9732delATGCTTCCTCTCTCATATAGGGGGTCCTGT TATCTTTGCTCCGAACATACTATTTTCATG		IRF2	ENSG00000168310.12	transcript	ENST00000393593.8	protein_coding	1/8						chr4	TogoVar
IRF7_chr11_607555_620950	613681	ACGGGGGT others(53): Show ACGGGGGTGGGCGGGGACAGGATGTGAGTGATGGGTGGGCGGGGACAAGC CGTGAGTGACG	A A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19009.hp1 NA18941.hp1 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0023 a0001c0003t0001g0023	2	407	0.0049	-60	c.847 others(73): Show c.847+44_848-87delCGTCACTCACGGCTTGTCCCCGCCCACCCATC ACTCACATCCTGTCCCCGCCCACCCCCG		IRF7	ENSG00000185507.21	transcript	ENST00000525445.6	protein_coding	8/10						chr11	TogoVar
ISG20_chr15_88634016_88661483	88652390	CCCTCCTC others(53): Show CCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTTCTCCTC CTCCTTCTCCT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19078.hp2 NA19060.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0239 a0001c0001t0002g0103 a0001c0001t0001g0239 a0001c0001t0002g0103	2	436	0.0046	-60	c.429 others(74): Show c.429+83_429+142delTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTTCTCCTCCTCCTTCTCCTCC		ISG20	ENSG00000172183.16	transcript	ENST00000306072.10	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr15	TogoVar
ISG20_chr15_88634016_88661483	88652397	CCCCCTCC others(53): Show CCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTTCTCCTCCTCCTTC TCCTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18974.hp2 NA18986.hp2 others(2): Show HG04204.hp2 NA18974.hp2 NA18986.hp2 NA19000.hp1 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0044 a0001c0001t0001g0211 a0001c0001t0002g0186 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0211 a0001c0001t0002g0186 a0001c0002t0003g0157	5	436	0.0115	-60	c.429 others(74): Show c.429+92_429+151delTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCT TCTCCTCCTCCTTCTCCTCCCTCCTCCCC		ISG20	ENSG00000172183.16	transcript	ENST00000306072.10	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr15	TogoVar
ISG20_chr15_88634016_88661483	88652409	CCCCCTCC others(53): Show CCCCCTCCTCCTCCCCCTCCTCCTTCTCCTCCTCCTTCTCCTCCCTCCTC CCCCTCCTCCT	C C	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0078 a0001c0007t0003g0078	1	436	0.0023	-60	c.429 others(75): Show c.429+104_429+163delTCCTCCTCCCCCTCCTCCTTCTCCTCCTCC TTCTCCTCCCTCCTCCCCCTCCTCCTCCCC		ISG20	ENSG00000172183.16	transcript	ENST00000306072.10	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr15	TogoVar
ISG20_chr15_88634016_88661483	88652421	CCCCCTCC others(53): Show CCCCCTCCTCCTTCTCCTCCTCCTTCTCCTCCCTCCTCCCCCTCCTCCTC CCCCTCCTCCT	C C	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	436	0.0023	-60	c.429 others(75): Show c.429+116_429+175delTCCTCCTTCTCCTCCTCCTTCTCCTCCCTC CTCCCCCTCCTCCTCCCCCTCCTCCTCCCC		ISG20	ENSG00000172183.16	transcript	ENST00000306072.10	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr15	TogoVar
ITGAM_chr16_31254975_31337877	31302398	TTCTTTTC others(53): Show TTCTTTTCTTTTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC TTTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG02109.hp1 HG02647.hp2	a0001 a0010 a0001 a0010	a0001c0005 a0010c0012 a0001c0005 a0010c0012	a0001c0005t0004 a0010c0012t0004 a0001c0005t0004 a0010c0012t0004	a0001c0005t0004g0162 a0010c0012t0004g0164 a0001c0005t0004g0162 a0010c0012t0004g0164	2	244	0.0082	-60	c.170 others(79): Show c.1707+4445_1707+4504delTCTTTTCTTTTTTCTTTCTTTCTTTC TTTCTTCTTTCTTTCTTTCTTTCTTTCTTCCTTC		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	14/29						chr16	TogoVar
ITGAM_chr16_31254975_31337877	31302918	CTCTTTCT others(53): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0147 a0001c0001t0004g0147	1	244	0.0041	-60	c.170 others(79): Show c.1707+4986_1707+5045delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	14/29					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAV_chr2_186585056_186685901	186648943	TACATTTG others(53): Show TACATTTGTGTGTATATATATATACATTTGTATATATATACATTTGTGTG TATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0246 a0001c0001t0003g0246	1	308	0.0033	-60	c.135 others(77): Show c.1352-875_1352-816delTACATTTGTATATATATACATTTGTGTG TATATATATACACATTTGTGTGTATATATATA		ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	13/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406083	GTGTTTGT others(53): Show GTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTT CAGTGTGTGTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG03453.hp2 HG00735.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0232 a0001c0001t0071 a0001c0001t0232	a0001c0001t0071g0039 a0001c0001t0232g0247 a0001c0001t0071g0039 a0001c0001t0232g0247	2	276	0.0073	-60	c.69 others(69): Show c.691_*750delAACACACACTGAAGGCCTGAGGAAGACGAGATGTCA CAGAGGTCCACTCAGTGACAAACA		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				691		chr2	TogoVar
ITIH2_chr10_7698316_7754520	7737663	TATTATAT others(53): Show TATTATATTCTATATTTTCTATATTATATTCTATATAATATTCTATATTA TATTCTATATA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03453.hp1 HG02717.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0306 a0001c0002t0001g0349 a0001c0002t0001g0306 a0001c0002t0001g0349	2	380	0.0053	-60	c.195 others(77): Show c.1958-955_1958-896delTATATTCTATATTTTCTATATTATATTC TATATAATATTCTATATTATATTCTATATAAT		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737674	ATATTTTC others(53): Show ATATTTTCTATATTATATTCTATATAATATTCTATATTATATTCTATATA ATATTCTATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02451.hp2 HG02896.hp1 HG02897.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0286 others(1): Show a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0286 a0001c0002t0001g0307	4	380	0.0105	-60	c.195 others(77): Show c.1958-943_1958-884delTTTCTATATTATATTCTATATAATATTC TATATTATATTCTATATAATATTCTATATTAT		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737843	ATTATATA others(53): Show ATTATATATTATATTCTATATATTATATATTATATTCTATATATTATATA TTATATTCTAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0271 a0001c0002t0001g0271	1	380	0.0026	-60	c.195 others(77): Show c.1958-777_1958-718delTTATATATTATATTCTATATATTATATA TTATATTCTATATATTATATATTATATTCTAT		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20						chr10	TogoVar
ITIH2_chr10_7698316_7754520	7738114	ATATTATA others(53): Show ATATTATATATTATATTCTATATATTATATATTATATTCTATATATTATA TATTATATTCT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03490.hp1 HG01074.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0113 a0001c0001t0001g0082 a0001c0001t0001g0113	2	380	0.0053	-60	c.195 others(77): Show c.1958-506_1958-447delTATTATATATTATATTCTATATATTATA TATTATATTCTATATATTATATATTATATTCT		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20						chr10	TogoVar
ITIH5_chr10_7554270_7671966	7556067	CATATATA others(53): Show CATATATATATATGTATATATATATATATATATGTGTGTGTGTATATATA TATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02886.hp1 NA18906.hp2 HG02451.hp1 HG02886.hp1 NA18906.hp2	a0002 a0024 a0002 a0024	a0002c0003 a0024c0053 a0002c0003 a0024c0053	a0002c0003t0012 a0024c0053t0012 a0002c0003t0012 a0024c0053t0012	a0002c0003t0012g0021 a0002c0003t0012g0322 a0024c0053t0012g0006 a0002c0003t0012g0021 a0002c0003t0012g0322 a0024c0053t0012g0006	3	342	0.0088	-60	c.69 others(71): Show c.6956_*7015delATATATATATATATATATACACACACACATATAT ATATATATATATACATATATATATAT		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding					3202		chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566826	GGAAGAGG others(53): Show GGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0025 a0004c0008t0025	a0004c0008t0025g0217 a0004c0008t0025g0217	1	342	0.0029	-60	c.215 others(77): Show c.2150-479_2150-420delTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTC		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13						chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566832	GGAAGAGG others(53): Show GGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2	a0003 a0004 a0003 a0004	a0003c0002 a0004c0016 a0003c0002 a0004c0016	a0003c0002t0002 a0004c0016t0002 a0003c0002t0002 a0004c0016t0002	a0003c0002t0002g0238 a0004c0016t0002g0142 a0004c0016t0002g0144 a0003c0002t0002g0238 a0004c0016t0002g0142 a0004c0016t0002g0144	3	342	0.0088	-60	c.215 others(77): Show c.2150-485_2150-426delTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTC		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13						chr10	TogoVar
ITPR1_chr3_4488348_4852506	4619592	CCTCCCCT others(53): Show CCTCCCCTGCTCTCCTCTGCCCTCCCCTGCTCTCCTCTGCTCTCCCCTGC TCTCCTCTGCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00639.hp2 others(24): Show HG00323.hp2 HG00544.hp2 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01081.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG02109.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02647.hp1 HG02683.hp2 HG03017.hp1 HG03225.hp2 HG03704.hp1 HG03834.hp1 NA18612.hp1 NA18945.hp1 NA18960.hp1 NA18974.hp1 NA18984.hp2 NA19012.hp1 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0021 a0001c0025 a0001c0028 a0001c0041 a0001c0057 a0001c0061 a0001c0080 a0001c0085 a0001c0086 a0001c0088 a0001c0093 a0002c0097 a0003c0052 a0005c0072 a0007c0077	a0001c0001t0001 a0001c0002t0001 a0001c0003t0003 others(22): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0001c0007t0003 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0001c0015t0001 a0001c0021t0001 a0001c0025t0007 a0001c0028t0002 a0001c0041t0001 a0001c0057t0005 a0001c0061t0002 a0001c0080t0001 a0001c0085t0001 a0001c0086t0001 a0001c0088t0001 a0001c0093t0003 a0002c0097t0008 a0003c0052t0008 a0005c0072t0002 a0007c0077t0001	a0001c0001t0001g0068 a0001c0002t0001g0060 a0001c0003t0003g0161 others(24): Show a0001c0001t0001g0068 a0001c0002t0001g0060 a0001c0003t0003g0161 a0001c0003t0004g0110 a0001c0004t0001g0084 a0001c0007t0003g0043 a0001c0012t0001g0021 a0001c0013t0001g0052 a0001c0013t0001g0132 a0001c0014t0001g0133 a0001c0015t0001g0051 a0001c0021t0001g0088 a0001c0025t0007g0112 a0001c0028t0002g0098 a0001c0028t0002g0136 a0001c0041t0001g0022 a0001c0057t0005g0144 a0001c0061t0002g0061 a0001c0080t0001g0131 a0001c0085t0001g0080 a0001c0086t0001g0039 a0001c0088t0001g0146 a0001c0093t0003g0065 a0002c0097t0008g0156 a0003c0052t0008g0164 a0005c0072t0002g0104 a0007c0077t0001g0096	27	176	0.1534	-60	c.164 others(77): Show c.164-8151_164-8092delCCTCCCCTGCTCTCCTCTGCTCTCCCCT GCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGC		ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61					INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4619706	CTCTGCTC others(53): Show CTCTGCTCTCCCCTGCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGCCCTC CCCTCCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03239.hp2 HG03471.hp2 others(1): Show HG02976.hp2 HG03239.hp2 HG03471.hp2 NA21309.hp2	a0001 a0001	a0001c0071 a0001c0087 a0001c0102 others(1): Show a0001c0071 a0001c0087 a0001c0102 a0001c0104	a0001c0071t0001 a0001c0087t0002 a0001c0102t0001 others(1): Show a0001c0071t0001 a0001c0087t0002 a0001c0102t0001 a0001c0104t0019	a0001c0071t0001g0095 a0001c0087t0002g0170 a0001c0102t0001g0168 others(1): Show a0001c0071t0001g0095 a0001c0087t0002g0170 a0001c0102t0001g0168 a0001c0104t0019g0121	4	176	0.0227	-60	c.164 others(77): Show c.164-8051_164-7992delTCTCCCCTGCTCTCCTCTGCTCTCCCCT GCTCTCCTCTGCCCTCCCCTCCTCTCTTCTGC		ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61					INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4619712	TCTCCCCT others(53): Show TCTCCCCTGCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGCCCTCCCCTCC TCTCTTCTGCC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0042 a0001c0011t0001g0145 a0001c0011t0001g0042 a0001c0011t0001g0145	2	176	0.0114	-60	c.164 others(77): Show c.164-8031_164-7972delTCTCCCCTGCTCTCCTCTGCCCTCCCCT CCTCTCTTCTGCCCTCCCCTGCTCTCCTCTGC		ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61					INFO_REALIGN_3_PRIME	chr3	TogoVar
IVL_chr1_152903546_152916886	152910446	GAGCAGCA others(53): Show GAGCAGCAGGAGGGGCAGCTGGAGCTCCCAGAGCAGCAGGAGGGGCAGCT GGAGCTCCCAC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19043.hp2 NA21309.hp2 NA19043.hp2 NA21309.hp2	a0040 a0041 a0040 a0041	a0040c0033 a0041c0032 a0040c0033 a0041c0032	a0040c0033t0001 a0041c0032t0007 a0040c0033t0001 a0041c0032t0007	a0040c0033t0001g0001 a0041c0032t0007g0001 a0040c0033t0001g0001 a0041c0032t0007g0001	2	426	0.0047	-60	c.676 others(67): Show c.676_735delCCAGAGCAGCAGGAGGGGCAGCTGGAGCTCCCACAGCA GCAGGAGGGGCAGCTGGAGCTC	p.Pro others(13): Show p.Pro226_Leu245del	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	739/2152	676/1758	226/585		INFO_REALIGN_3_PRIME	chr1	TogoVar
JAKMIP3_chr10_132060946_132189858	132180544	TGCGTGCG others(53): Show TGCGTGCGTGCATGCGTGTGTGTGCGTGTGTGTGTGCGTGCGCGTGTGTG TGTGCGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0032 a0002c0025t0032	a0002c0025t0032g0103 a0002c0025t0032g0103	1	158	0.0063	-60	c.11 others(81): Show c.1104-1811_*1104-1752delCGTGCGTGCATGCGTGTGTGTGCG TGTGTGTGTGCGTGCGCGTGTGTGTGTGCGTGCGCG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM3_chr11_134064072_134157001	134092275	GCCCTCCT others(53): Show GCCCTCCTTATTCATCATGTTCCACCTTAAACGTCACTTCCTGAGGGAAG CTTCTCCTGAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01106.hp2 others(14): Show HG00735.hp2 HG00738.hp1 HG01106.hp2 HG01257.hp1 HG01258.hp2 HG01975.hp2 HG02293.hp1 HG02559.hp2 HG02615.hp2 HG02886.hp2 HG02895.hp1 HG03195.hp1 HG03516.hp1 HG06807.hp1 NA18967.hp1 NA19004.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0023	a0001c0001t0004g0003 a0001c0001t0004g0023 a0001c0001t0004g0026 others(12): Show a0001c0001t0004g0003 a0001c0001t0004g0023 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0005g0135 a0001c0001t0007g0242 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0246 a0001c0001t0007g0248 a0001c0001t0007g0249 a0001c0001t0012g0333 a0001c0001t0023g0245 a0001c0001t0023g0247	17	390	0.0436	-60	c.76+ others(77): Show c.76+23296_76+23355delACCCTCCTTATTCATCATGTTCCACCTT AAACGTCACTTCCTGAGGGAAGCTTCTCCTGA		JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
JAM3_chr11_134064072_134157001	134092687	GCCCTCCT others(53): Show GCCCTCCTTATTCATCATGTTCCACCTTACATGTCACTTCCTGAGGGAAG CGTCTCCTGAA	G G	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	390	0.0026	-60	c.76+ others(77): Show c.76+23560_76+23619delGTCACTTCCTGAGGGAAGCGTCTCCTGA ACCCTCCTTATTCATCATGTTCCACCTTACAT		JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
JAM3_chr11_134064072_134157001	134092943	TCTTACAT others(53): Show TCTTACATGTCACTCCCTGAGAGAAGCTTCTCCTCAGCCCTCCTTATTCA TCATGTTCCAC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	390	0.0026	-60	c.76+ others(77): Show c.76+23798_76+23857delCCCTGAGAGAAGCTTCTCCTCAGCCCTC CTTATTCATCATGTTCCACCTTACATGTCACT		JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
JAM3_chr11_134064072_134157001	134093823	TCTTATTC others(53): Show TCTTATTCATCATGTTCCATCTTACATGTCACTTCCTGAGGGAAGCTTCT CCTGAACCCTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp2 others(96): Show HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG01070.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01496.hp1 HG01891.hp1 HG01978.hp2 HG02015.hp2 HG02056.hp1 HG02080.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18975.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18988.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA19004.hp2 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0006c0007	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(19): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0033 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0066 a0001c0001t0068 a0001c0005t0001 a0002c0003t0010 a0002c0003t0031 a0002c0003t0067 a0006c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(87): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0101 a0001c0001t0001g0149 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0010g0016 a0001c0001t0010g0268 a0001c0001t0010g0270 a0001c0001t0010g0272 a0001c0001t0010g0274 a0001c0001t0010g0275 a0001c0001t0010g0276 a0001c0001t0010g0277 a0001c0001t0012g0017 a0001c0001t0012g0018 a0001c0001t0012g0310 a0001c0001t0012g0333 a0001c0001t0012g0341 a0001c0001t0015g0278 a0001c0001t0015g0279 a0001c0001t0015g0282 a0001c0001t0015g0338 a0001c0001t0026g0280 a0001c0001t0026g0281 a0001c0001t0027g0294 a0001c0001t0027g0295 a0001c0001t0028g0291 a0001c0001t0028g0292 a0001c0001t0031g0266 a0001c0001t0033g0335 a0001c0001t0041g0325 a0001c0001t0042g0327 a0001c0001t0044g0313 a0001c0001t0045g0312 a0001c0001t0047g0339 a0001c0001t0049g0293 a0001c0001t0066g0265 a0001c0001t0068g0269 a0001c0005t0001g0326 a0002c0003t0010g0273 a0002c0003t0010g0352 a0002c0003t0031g0271 a0002c0003t0067g0267 a0006c0007t0001g0340	99	390	0.2539	-60	c.76+ others(77): Show c.76+24683_76+24742delTCTTACATGTCACTTCCTGAGGGAAGCT TCTCCTGAACCCTCCTTATTCATCATGTTCCA		JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
JAM3_chr11_134064072_134157001	134093924	GAAGCTTC others(53): Show GAAGCTTCTCCTGAACCCTCCTTATTCATCATGTTCCACCTTAAATGTCA CTTCCTGAGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	390	0.0026	-60	c.76+ others(77): Show c.76+24808_76+24867delAATGTCACTTCCTGAGGAAAGCTTCTCC TGAACCCTCCTTATTCATCATGTTCCACCTTA		JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
JAM3_chr11_134064072_134157001	134094593	CATGTCAC others(53): Show CATGTCACTTCCTGAGGGAAGCTTCTCCTGAACCCTCCTTATTCATCATG TTCCACCTTAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	390	0.0026	-60	c.76+ others(77): Show c.76+25456_76+25515delTTCTCCTGAACCCTCCTTATTCATCATG TTCCACCTTAAATGTCACTTCCTGAGGGAAGC		JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
JAM3_chr11_134064072_134157001	134094615	TTCTCCTG others(53): Show TTCTCCTGAACCCTCCTTATTCATCATGTTCCACCTTAAATGTCACTTCC TGAGGGAAGCA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp2 others(112): Show HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG01070.hp2 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02572.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18975.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18988.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19004.hp2 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0006c0007	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(25): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0033 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0060 a0001c0001t0066 a0001c0001t0068 a0001c0005t0001 a0002c0003t0010 a0002c0003t0031 a0002c0003t0067 a0006c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(103): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0101 a0001c0001t0001g0149 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0010g0016 a0001c0001t0010g0268 a0001c0001t0010g0270 a0001c0001t0010g0272 a0001c0001t0010g0274 a0001c0001t0010g0275 a0001c0001t0010g0276 a0001c0001t0010g0277 a0001c0001t0012g0017 a0001c0001t0012g0018 a0001c0001t0012g0310 a0001c0001t0012g0333 a0001c0001t0012g0341 a0001c0001t0013g0059 a0001c0001t0013g0060 a0001c0001t0013g0061 a0001c0001t0013g0062 a0001c0001t0013g0063 a0001c0001t0013g0064 a0001c0001t0014g0260 a0001c0001t0014g0261 a0001c0001t0014g0262 a0001c0001t0014g0263 a0001c0001t0014g0264 a0001c0001t0015g0278 a0001c0001t0015g0279 a0001c0001t0015g0282 a0001c0001t0015g0338 a0001c0001t0021g0065 a0001c0001t0026g0280 a0001c0001t0026g0281 a0001c0001t0027g0294 a0001c0001t0027g0295 a0001c0001t0028g0291 a0001c0001t0028g0292 a0001c0001t0031g0266 a0001c0001t0033g0335 a0001c0001t0041g0325 a0001c0001t0042g0327 a0001c0001t0043g0351 a0001c0001t0044g0313 a0001c0001t0045g0312 a0001c0001t0046g0353 a0001c0001t0047g0339 a0001c0001t0049g0293 a0001c0001t0060g0350 a0001c0001t0066g0265 a0001c0001t0068g0269 a0001c0005t0001g0326 a0002c0003t0010g0273 a0002c0003t0010g0352 a0002c0003t0031g0271 a0002c0003t0067g0267 a0006c0007t0001g0340	115	390	0.2949	-60	c.76+ others(77): Show c.76+25465_76+25524delACCCTCCTTATTCATCATGTTCCACCTT AAATGTCACTTCCTGAGGGAAGCATCTCCTGA		JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
KANK4_chr1_62231165_62324434	62278316	TCTTTCTT others(53): Show TCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00423.hp1 others(88): Show HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00597.hp1 HG00621.hp2 HG00741.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02717.hp1 HG02818.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 NA18906.hp1 NA18941.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19011.hp2 NA19043.hp1 NA19055.hp2 NA19058.hp1 NA19068.hp1 NA19070.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0016 a0017 a0021 a0022	a0001c0046 a0002c0003 a0002c0004 others(18): Show a0001c0046 a0002c0003 a0002c0004 a0002c0022 a0002c0056 a0003c0029 a0003c0044 a0004c0012 a0004c0015 a0004c0026 a0004c0042 a0004c0055 a0005c0006 a0006c0007 a0008c0018 a0009c0020 a0009c0047 a0016c0045 a0017c0038 a0021c0041 a0022c0040	a0001c0046t0008 a0002c0003t0002 a0002c0003t0007 others(33): Show a0001c0046t0008 a0002c0003t0002 a0002c0003t0007 a0002c0003t0015 a0002c0003t0017 a0002c0003t0021 a0002c0004t0001 a0002c0004t0026 a0002c0022t0002 a0002c0022t0015 a0002c0056t0004 a0003c0029t0001 a0003c0044t0001 a0004c0012t0002 a0004c0012t0013 a0004c0015t0001 a0004c0015t0002 a0004c0015t0003 a0004c0015t0010 a0004c0026t0001 a0004c0042t0006 a0004c0055t0009 a0005c0006t0001 a0005c0006t0002 a0005c0006t0005 a0005c0006t0014 a0005c0006t0028 a0006c0007t0001 a0008c0018t0013 a0009c0020t0001 a0009c0020t0007 a0009c0047t0002 a0016c0045t0001 a0017c0038t0001 a0021c0041t0001 a0022c0040t0005	a0001c0046t0008g0206 a0002c0003t0002g0001 a0002c0003t0002g0015 others(87): Show a0001c0046t0008g0206 a0002c0003t0002g0001 a0002c0003t0002g0015 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0060 a0002c0003t0002g0062 a0002c0003t0002g0063 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0068 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0002g0073 a0002c0003t0002g0078 a0002c0003t0002g0087 a0002c0003t0002g0088 a0002c0003t0002g0089 a0002c0003t0002g0099 a0002c0003t0002g0139 a0002c0003t0002g0174 a0002c0003t0002g0204 a0002c0003t0002g0205 a0002c0003t0002g0211 a0002c0003t0002g0212 a0002c0003t0002g0233 a0002c0003t0002g0282 a0002c0003t0002g0288 a0002c0003t0002g0294 a0002c0003t0007g0278 a0002c0003t0007g0279 a0002c0003t0015g0033 a0002c0003t0017g0112 a0002c0003t0021g0020 a0002c0004t0001g0105 a0002c0004t0026g0238 a0002c0022t0002g0214 a0002c0022t0002g0217 a0002c0022t0015g0221 a0002c0056t0004g0225 a0003c0029t0001g0081 a0003c0044t0001g0114 a0004c0012t0002g0014 a0004c0012t0002g0107 a0004c0012t0002g0140 a0004c0012t0002g0141 a0004c0012t0002g0173 a0004c0012t0013g0106 a0004c0015t0001g0111 a0004c0015t0002g0201 a0004c0015t0003g0136 a0004c0015t0010g0023 a0004c0015t0010g0215 a0004c0026t0001g0103 a0004c0026t0001g0148 a0004c0042t0006g0006 a0004c0055t0009g0317 a0005c0006t0001g0133 a0005c0006t0001g0134 a0005c0006t0002g0135 a0005c0006t0005g0004 a0005c0006t0005g0005 a0005c0006t0005g0008 a0005c0006t0005g0037 a0005c0006t0014g0178 a0005c0006t0028g0007 a0006c0007t0001g0110 a0006c0007t0001g0203 a0006c0007t0001g0210 a0006c0007t0001g0213 a0006c0007t0001g0218 a0006c0007t0001g0219 a0006c0007t0001g0220 a0006c0007t0001g0226 a0006c0007t0001g0291 a0008c0018t0013g0181 a0008c0018t0013g0272 a0008c0018t0013g0273 a0008c0018t0013g0289 a0009c0020t0001g0056 a0009c0020t0001g0057 a0009c0020t0007g0280 a0009c0047t0002g0061 a0016c0045t0001g0030 a0017c0038t0001g0165 a0021c0041t0001g0180 a0022c0040t0005g0162	91	322	0.2826	-60	c.16+ others(75): Show c.16+3173_17-3230delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGAAAG		KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding	2/9						chr1	TogoVar

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