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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HYDIN_chr16_70797084_71235722	70902807	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	174	0.0058	-15	c.884 others(32): Show c.8849+803_8849+817delATATATATATATATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70904478	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp2 HG02965.hp2 others(5): Show HG02818.hp2 HG02886.hp2 HG02965.hp2 HG03139.hp1 HG06807.hp1 NA18522.hp2 NA18962.hp2 NA18986.hp2	a0001 a0003 a0016 others(1): Show a0001 a0003 a0016 a0034	a0001c0002 a0001c0038 a0003c0004 others(2): Show a0001c0002 a0001c0038 a0003c0004 a0016c0034 a0034c0086	a0001c0002t0002 a0001c0038t0034 a0003c0004t0005 others(3): Show a0001c0002t0002 a0001c0038t0034 a0003c0004t0005 a0003c0004t0012 a0016c0034t0004 a0034c0086t0038	a0001c0002t0002g0018 a0001c0038t0034g0164 a0003c0004t0005g0028 others(5): Show a0001c0002t0002g0018 a0001c0038t0034g0164 a0003c0004t0005g0028 a0003c0004t0005g0029 a0003c0004t0005g0030 a0003c0004t0012g0066 a0016c0034t0004g0063 a0034c0086t0038g0174	8	174	0.0460	-15	c.851 others(32): Show c.8517-429_8517-415delAAAAAAAAAAAAAAA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	50/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	71040619	TAGGAGGC others(8): Show TAGGAGGCAGGCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0026 a0026	a0026c0087 a0026c0087	a0026c0087t0010 a0026c0087t0010	a0026c0087t0010g0135 a0026c0087t0010g0135	1	174	0.0058	-15	c.253 others(34): Show c.2530-8717_2530-8703delGAGAGCCTGCCTCCT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	18/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	71075515	GATCTGAT others(8): Show GATCTGATGGAGAATA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	174	0.0058	-15	c.173 others(34): Show c.1738+4355_1738+4369delTATTCTCCATCAGAT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	13/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	71110395	TATATATT others(8): Show TATATATTTATATATA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02145.hp1 HG01433.hp2 HG02145.hp1	a0002 a0003 a0002 a0003	a0002c0054 a0003c0055 a0002c0054 a0003c0055	a0002c0054t0003 a0003c0055t0032 a0002c0054t0003 a0003c0055t0032	a0002c0054t0003g0140 a0003c0055t0032g0141 a0002c0054t0003g0140 a0003c0055t0032g0141	2	174	0.0115	-15	c.132 others(34): Show c.1327+5286_1327+5300delTATATATAAATATAT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	10/85			chr16	TogoVar
HYKK_chr15_78502577_78541645	78503380	CGGCTCAC others(8): Show CGGCTCACTGCAACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0223 a0001c0001t0007g0223	1	412	0.0024	-15	c.-42 others(26): Show c.-4296_-4282delGGCTCACTGCAACCT	HYKK	ENSG00000188266.14	transcript	ENST00000388988.9	protein_coding		4196		chr15	TogoVar
HYOU1_chr11_119039188_119062205	119050719	CCAAAAAA others(8): Show CCAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0082 a0001c0002t0006g0082	1	414	0.0024	-15	c.166 others(32): Show c.1665+301_1665+315delTTTTTTTTTTTTTTG	HYOU1	ENSG00000149428.21	transcript	ENST00000617285.5	protein_coding	14/25			chr11	TogoVar
IAH1_chr2_9469551_9494742	9479795	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01256.hp1 HG01496.hp2 others(18): Show HG01109.hp1 HG01256.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02630.hp1 HG02717.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp1 HG03225.hp2 HG03453.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0018 others(10): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0031 a0001c0001t0032 a0001c0001t0044 a0001c0001t0050 a0001c0001t0051 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063	a0001c0001t0002g0063 a0001c0001t0015g0001 a0001c0001t0015g0246 others(13): Show a0001c0001t0002g0063 a0001c0001t0015g0001 a0001c0001t0015g0246 a0001c0001t0015g0248 a0001c0001t0018g0020 a0001c0001t0018g0053 a0001c0001t0020g0001 a0001c0001t0031g0001 a0001c0001t0032g0050 a0001c0001t0044g0124 a0001c0001t0050g0001 a0001c0001t0051g0243 a0001c0001t0060g0001 a0001c0001t0061g0001 a0001c0001t0062g0001 a0001c0001t0063g0242	21	342	0.0614	-15	c.283 others(32): Show c.283+1446_284-1456delTTTTTTTTTTTTTTT	IAH1	ENSG00000134330.19	transcript	ENST00000497473.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
IARS1_chr9_92205207_92298697	92252764	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	338	0.0030	-15	c.222 others(32): Show c.2229+583_2229+597delTTTTTTTTTTTTTTT	IARS1	ENSG00000196305.19	transcript	ENST00000443024.7	protein_coding	21/33			chr9	TogoVar
ICA1L_chr2_202768176_202876766	202852152	AGTCTTTA others(8): Show AGTCTTTACTATTTAG	A A	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA19059.hp1 NA18959.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0206 a0001c0001t0001g0184 a0001c0001t0001g0206	2	330	0.0061	-15	c.-8+ others(32): Show c.-8+19452_-8+19466delCTAAATAGTAAAGAC	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICE1_chr5_5417677_5495220	5480243	CTTTTTCT others(8): Show CTTTTTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19043.hp1 HG03516.hp1 NA19043.hp1	a0005 a0005	a0005c0007 a0005c0036 a0005c0007 a0005c0036	a0005c0007t0001 a0005c0036t0001 a0005c0007t0001 a0005c0036t0001	a0005c0007t0001g0257 a0005c0036t0001g0256 a0005c0007t0001g0257 a0005c0036t0001g0256	2	364	0.0055	-15	c.652 others(34): Show c.6520+4170_6520+4184delCTTTTTTTTTTTTTT	ICE1	ENSG00000164151.12	transcript	ENST00000296564.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
ICOSLG_chr21_44217991_44245943	44242605	CCGCAGGT others(8): Show CCGCAGGTGAGGAGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0014 a0002c0001t0014	a0002c0001t0014g0032 a0002c0001t0014g0032	1	41	0.0244	-15	c.-18 others(26): Show c.-1803_-1789delCCCTCCTCACCTGCG	ICOSLG	ENSG00000160223.18	transcript	ENST00000407780.8	protein_coding		1663		chr21	TogoVar
IDE_chr10_92446684_92579093	92464232	AAAAAATC others(8): Show AAAAAATCCTATTCAT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19079.hp2 HG02080.hp1 NA19079.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0005 a0001c0001 a0008c0005	a0001c0001t0001 a0008c0005t0001 a0001c0001t0001 a0008c0005t0001	a0001c0001t0001g0093 a0008c0005t0001g0084 a0001c0001t0001g0093 a0008c0005t0001g0084	2	314	0.0064	-15	c.248 others(32): Show c.2489-244_2489-230delATGAATAGGATTTTT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	20/24			chr10	TogoVar
IDH2_chr15_90078045_90107468	90083119	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0346 a0001c0001t0023g0346	1	440	0.0023	-15	c.11 others(26): Show c.1132_*1146delAAAAAAAAAAAAAAA	IDH2	ENSG00000182054.10	transcript	ENST00000330062.8	protein_coding	11/11	1132		chr15	TogoVar
IDH2_chr15_90078045_90107468	90106074	CTTTTATT others(8): Show CTTTTATTTTATTTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02895.hp2 HG03195.hp1 others(2): Show HG02809.hp1 HG02895.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0007 a0001c0002t0010g0045 a0001c0002t0010g0048 a0001c0002t0010g0007 a0001c0002t0010g0045 a0001c0002t0010g0048	5	440	0.0114	-15	c.-36 others(26): Show c.-3699_-3685delTAAAATAAAATAAAA	IDH2	ENSG00000182054.10	transcript	ENST00000330062.8	protein_coding		3607		chr15	TogoVar
IDO1_chr8_39908891_39933790	39910696	ATTTATTT others(8): Show ATTTATTTTATTTTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG02056.hp1 others(13): Show HG00735.hp2 HG01070.hp2 HG02056.hp1 HG02056.hp2 HG02258.hp2 HG02572.hp2 HG02630.hp2 HG02895.hp2 HG02922.hp1 HG03041.hp1 HG03041.hp2 NA18939.hp1 NA18977.hp2 NA18978.hp1 NA19079.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0015 others(12): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0060 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0002g0163	16	422	0.0379	-15	c.-32 others(26): Show c.-3226_-3212delTTTATTTTATTTTAT	IDO1	ENSG00000131203.13	transcript	ENST00000518237.6	protein_coding		3194		chr8	TogoVar
IDO2_chr8_39929651_40021392	39995179	CCTTCTTC others(8): Show CCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03139.hp2 HG02717.hp2 HG03139.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0013 a0004c0004t0021 a0001c0001t0013 a0004c0004t0021	a0001c0001t0013g0011 a0004c0004t0021g0007 a0001c0001t0013g0011 a0004c0004t0021g0007	2	360	0.0056	-15	c.667 others(32): Show c.667+5350_667+5364delTCTTCTTCTTCTTCT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995236	TCTCCTTC others(8): Show TCTCCTTCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02572.hp2 others(4): Show HG02257.hp1 HG02280.hp1 HG02572.hp2 HG02647.hp1 HG02886.hp2 HG03130.hp1 NA19043.hp2	a0008 a0010 a0008 a0010	a0008c0010 a0008c0020 a0010c0012 others(1): Show a0008c0010 a0008c0020 a0010c0012 a0010c0019	a0008c0010t0009 a0008c0020t0009 a0010c0012t0004 others(3): Show a0008c0010t0009 a0008c0020t0009 a0010c0012t0004 a0010c0012t0006 a0010c0012t0016 a0010c0019t0015	a0008c0010t0009g0193 a0008c0010t0009g0197 a0008c0020t0009g0252 others(4): Show a0008c0010t0009g0193 a0008c0010t0009g0197 a0008c0020t0009g0252 a0010c0012t0004g0109 a0010c0012t0006g0262 a0010c0012t0016g0102 a0010c0019t0015g0142	7	360	0.0194	-15	c.667 others(32): Show c.667+5401_667+5415delCCTTCTCCTTCTCCT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDUA_chr4_982044_1009564	986939	ACCCAACC others(8): Show ACCCAACCCCTCCCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0270 a0002c0003t0001g0270	1	426	0.0024	-15	c.-14 others(24): Show c.-145_-131delCCCAACCCCTCCCAC	IDUA	ENSG00000127415.13	transcript	ENST00000514224.2	protein_coding		104		chr4	TogoVar
IER5_chr1_181083700_181097900	181096623	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	374	0.0027	-15	c.67 others(26): Show c.6738_*6752delTTTTTTTTTTTTTTT	IER5	ENSG00000162783.11	transcript	ENST00000367577.7	protein_coding		3724		chr1	TogoVar
IFI16_chr1_159004907_159060151	159021939	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp1 HG03139.hp2 NA18906.hp1	a0003 a0014 a0003 a0014	a0003c0005 a0014c0022 a0003c0005 a0014c0022	a0003c0005t0001 a0014c0022t0002 a0003c0005t0001 a0014c0022t0002	a0003c0005t0001g0224 a0014c0022t0002g0079 a0003c0005t0001g0224 a0014c0022t0002g0079	2	320	0.0063	-15	c.116 others(34): Show c.1161+1438_1161+1452delTTTTTTTTTTTTTTT	IFI16	ENSG00000163565.20	transcript	ENST00000295809.12	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
IFI16_chr1_159004907_159060151	159047061	AATGGGCA others(8): Show AATGGGCAGGGAAGGT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0100 a0001c0003t0001g0100	1	320	0.0031	-15	c.149 others(34): Show c.1497+1610_1497+1624delGGTATGGGCAGGGAA	IFI16	ENSG00000163565.20	transcript	ENST00000295809.12	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
IFNA14_chr9_21234002_21245005	21241518	TCCAAAGG others(8): Show TCCAAAGGACCTGCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	450	0.0022	-15	c.-15 others(26): Show c.-1598_-1584delCTGCAGGTCCTTTGG	IFNA14	ENSG00000228083.3	transcript	ENST00000380222.4	protein_coding		1514		chr9	TogoVar
IFNA1_chr9_21435439_21446316	21443524	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	450	0.0022	-15	c.24 others(26): Show c.2448_*2462delAAAAAAAAAAAAAAA	IFNA1	ENSG00000197919.6	transcript	ENST00000276927.3	protein_coding		2209		chr9	TogoVar
IFNA21_chr9_21160637_21171660	21167398	AATATAAG others(8): Show AATATAAGCTATTTGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01175.hp1 HG00642.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	464	0.0043	-15	c.-80 others(24): Show c.-801_-787delGCAAATAGCTTATAT	IFNA21	ENSG00000137080.4	transcript	ENST00000380225.1	protein_coding		739		chr9	TogoVar
IFNA8_chr9_21404117_21415185	21407911	TAATTGAT others(8): Show TAATTGATGTTTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp2 others(50): Show HG00099.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG01358.hp1 HG01934.hp1 HG01952.hp1 HG02129.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18968.hp2 NA18971.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18986.hp2 NA18987.hp1 NA18991.hp2 NA18993.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19081.hp1 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0000 a0001c0001t0008g0000 a0001c0001t0001g0000 a0001c0001t0008g0000	53	458	0.1157	-15	c.-12 others(26): Show c.-1265_-1251delAATTGATGTTTTCTC	IFNA8	ENSG00000120242.4	transcript	ENST00000380205.2	protein_coding		1205		chr9	TogoVar
IFNAR1_chr21_33319970_33364864	33320582	AAGGAGGA others(8): Show AAGGAGGAAGAAAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	323	0.0031	-15	c.-44 others(26): Show c.-4473_-4459delAGGAGGAAGAAAAGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		4387		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321833	GTATGTGG others(8): Show GTATGTGGAACATACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02559.hp2 others(7): Show HG01891.hp1 HG02109.hp1 HG02559.hp2 HG02622.hp1 HG02895.hp2 HG02897.hp1 HG03225.hp1 HG03579.hp1 HG03831.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0022 a0002c0002t0016 a0003c0003t0004 a0003c0003t0009	a0001c0001t0001g0112 a0001c0001t0005g0019 a0001c0001t0010g0103 others(7): Show a0001c0001t0001g0112 a0001c0001t0005g0019 a0001c0001t0010g0103 a0001c0001t0010g0106 a0001c0001t0022g0120 a0002c0002t0016g0118 a0003c0003t0004g0125 a0003c0003t0009g0116 a0003c0003t0009g0117 a0003c0003t0009g0119	10	323	0.0310	-15	c.-32 others(26): Show c.-3222_-3208delTATGTGGAACATACA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3136		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321930	GACCATAC others(8): Show GACCATACATATGTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02559.hp2 others(8): Show HG01891.hp1 HG02109.hp1 HG02559.hp2 HG02622.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03225.hp1 HG03579.hp1 HG03831.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0003c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0022 a0002c0002t0016 a0003c0003t0004 a0003c0003t0009 a0003c0008t0017	a0001c0001t0001g0112 a0001c0001t0005g0019 a0001c0001t0010g0103 others(8): Show a0001c0001t0001g0112 a0001c0001t0005g0019 a0001c0001t0010g0103 a0001c0001t0010g0106 a0001c0001t0022g0120 a0002c0002t0016g0118 a0003c0003t0004g0125 a0003c0003t0009g0116 a0003c0003t0009g0117 a0003c0003t0009g0119 a0003c0008t0017g0144	11	323	0.0341	-15	c.-31 others(26): Show c.-3125_-3111delACCATACATATGTGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3039		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322093	CATATATG others(8): Show CATATATGGGACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01192.hp2 HG01358.hp1 others(14): Show HG01175.hp1 HG01192.hp2 HG01358.hp1 HG01496.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02647.hp1 HG02922.hp2 HG02970.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG06807.hp1 NA18906.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0020 a0001c0001t0041 others(7): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0003c0003t0004 a0003c0003t0017 a0003c0003t0030	a0001c0001t0001g0016 a0001c0001t0001g0039 a0001c0001t0001g0088 others(13): Show a0001c0001t0001g0016 a0001c0001t0001g0039 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0020g0020 a0001c0001t0020g0130 a0001c0001t0041g0126 a0001c0001t0042g0127 a0001c0001t0043g0128 a0001c0001t0044g0020 a0001c0001t0045g0129 a0003c0003t0004g0010 a0003c0003t0017g0131 a0003c0003t0030g0132	17	323	0.0526	-15	c.-29 others(26): Show c.-2962_-2948delATATATGGGACACAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2876		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322185	CGTCTGGA others(8): Show CGTCTGGAATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00558.hp1 others(27): Show HG00099.hp2 HG00438.hp2 HG00558.hp1 HG01257.hp2 HG01258.hp2 HG01884.hp2 HG02015.hp2 HG02071.hp2 HG02074.hp1 HG02559.hp1 HG02717.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp1 HG03209.hp1 HG03491.hp2 NA18906.hp1 NA18944.hp2 NA18945.hp2 NA18951.hp2 NA18953.hp2 NA18959.hp2 NA18967.hp2 NA18972.hp2 NA19002.hp1 NA19006.hp2 NA19010.hp2 NA19059.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0003 a0002c0002t0002 a0002c0002t0016 others(1): Show a0001c0001t0003 a0002c0002t0002 a0002c0002t0016 a0002c0004t0002	a0001c0001t0003g0032 a0001c0001t0003g0173 a0001c0001t0003g0176 others(23): Show a0001c0001t0003g0032 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0184 a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0185 a0002c0002t0002g0187 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0197 a0002c0002t0002g0218 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0016g0209 a0002c0004t0002g0033 a0002c0004t0002g0192 a0002c0004t0002g0219 a0002c0004t0002g0221 a0002c0004t0002g0246 a0002c0004t0002g0247	30	323	0.0929	-15	c.-28 others(26): Show c.-2870_-2856delGTCTGGAATATATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2784		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322313	CTGGAATA others(8): Show CTGGAATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00621.hp2 others(21): Show HG00597.hp1 HG00609.hp1 HG00621.hp2 HG01081.hp1 HG01192.hp1 HG01934.hp1 HG02155.hp2 NA18941.hp2 NA18944.hp1 NA18950.hp1 NA18951.hp1 NA18957.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18983.hp1 NA18985.hp1 NA18994.hp1 NA19007.hp1 NA19064.hp1 NA19068.hp2 NA19072.hp2 NA19087.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0001 a0001c0001t0034	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0014 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0034g0014	24	323	0.0743	-15	c.-27 others(26): Show c.-2742_-2728delTGGAATATATATATA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2656		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322326	ATATGGAA others(8): Show ATATGGAATATATATC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	323	0.0031	-15	c.-27 others(26): Show c.-2729_-2715delTATGGAATATATATC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2643		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322386	AATATATA others(8): Show AATATATATCTGGAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0247 a0002c0004t0002g0247	1	323	0.0031	-15	c.-26 others(26): Show c.-2669_-2655delATATATATCTGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323883	AATATAGA others(8): Show AATATAGAGATGGGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02809.hp1 others(2): Show HG02055.hp1 HG02280.hp1 HG02809.hp1 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 others(2): Show a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0027g0241	5	323	0.0155	-15	c.-11 others(26): Show c.-1172_-1158delATATAGAGATGGGAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1086		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33361634	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0241 a0001c0001t0027g0241	1	323	0.0031	-15	c.60 others(26): Show c.6086_*6100delTTTTTTTTTTTTTTT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1771		chr21	TogoVar
IFNAR2_chr21_33224938_33270664	33259790	ATCTAACA others(8): Show ATCTAACAGTGTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0193 a0001c0004t0003g0193	1	424	0.0024	-15	c.710 others(30): Show c.710-806_710-792delTCTAACAGTGTTTTT	IFNAR2	ENSG00000159110.22	transcript	ENST00000342136.9	protein_coding	7/8			chr21	TogoVar
IFNGR2_chr21_33398413_33442516	33401964	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(87): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG01081.hp2 HG01167.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02738.hp2 HG02809.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18963.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp2 NA19086.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0010	a0001c0001 a0002c0002 a0005c0004 others(1): Show a0001c0001 a0002c0002 a0005c0004 a0010c0012	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0008 a0005c0004t0001 a0010c0012t0001	a0001c0001t0001g0012 a0001c0001t0001g0068 a0001c0001t0001g0078 others(70): Show a0001c0001t0001g0012 a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0003g0028 a0001c0001t0003g0073 a0001c0001t0003g0258 a0001c0001t0003g0293 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0072 a0002c0002t0001g0075 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0008g0049 a0005c0004t0001g0138 a0005c0004t0001g0152 a0010c0012t0001g0057	90	386	0.2332	-15	c.-15 others(26): Show c.-1579_-1565delTTTTTTTTTTTTTTT	IFNGR2	ENSG00000159128.16	transcript	ENST00000290219.11	protein_coding		1448		chr21	TogoVar
IFNL1_chr19_39291407_39303673	39299192	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG03704.hp2 NA19064.hp1 HG01070.hp1 HG03704.hp2 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0002t0001g0001 a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0002t0001g0001	3	302	0.0099	-15	c.67 others(24): Show c.677_*691delAAAAAAAAAAAAAAA	IFNL1	ENSG00000182393.3	transcript	ENST00000333625.3	protein_coding		520		chr19	TogoVar
IFNLR1_chr1_24149168_24192289	24162713	TTCTTTCT others(8): Show TTCTTTCTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01192.hp1 HG01256.hp2 others(15): Show HG01109.hp1 HG01192.hp1 HG01256.hp2 HG02056.hp1 HG02258.hp2 HG02293.hp1 HG02572.hp2 HG03540.hp2 HG04184.hp2 NA18612.hp2 NA18952.hp2 NA18965.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19056.hp1 NA19074.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 a0001c0001 a0001c0002 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0045 a0001c0002t0002 a0001c0016t0001	a0001c0001t0001g0188 a0001c0001t0002g0166 a0001c0001t0002g0172 others(15): Show a0001c0001t0001g0188 a0001c0001t0002g0166 a0001c0001t0002g0172 a0001c0001t0002g0185 a0001c0001t0002g0202 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0260 a0001c0001t0002g0295 a0001c0001t0005g0019 a0001c0001t0005g0068 a0001c0001t0005g0089 a0001c0001t0045g0173 a0001c0002t0002g0170 a0001c0016t0001g0187	18	396	0.0455	-15	c.368 others(32): Show c.368-1044_368-1030delGAAAAGAAAGAAAGA	IFNLR1	ENSG00000185436.12	transcript	ENST00000327535.6	protein_coding	3/6			chr1	TogoVar
IFNLR1_chr1_24149168_24192289	24165715	TGTGGTCA others(8): Show TGTGGTCAAGGTAAAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01975.hp2 HG02293.hp2 HG00609.hp1 HG01975.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0265 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0001g0265 a0001c0001t0004g0020 a0001c0001t0004g0021	3	396	0.0076	-15	c.367 others(32): Show c.367+3687_367+3701delGTTTACCTTGACCAC	IFNLR1	ENSG00000185436.12	transcript	ENST00000327535.6	protein_coding	3/6			chr1	TogoVar
IFRD1_chr7_112445460_112482203	112463879	CACACACA others(8): Show CACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03579.hp1 HG02818.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0172 a0001c0001t0005g0164 a0001c0001t0003g0172 a0001c0001t0005g0164	2	374	0.0054	-15	c.906 others(32): Show c.906+1502_906+1516delACACACACACACACA	IFRD1	ENSG00000006652.15	transcript	ENST00000403825.8	protein_coding	8/11			chr7	TogoVar
IFRD1_chr7_112445460_112482203	112463880	ACACACAC others(8): Show ACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02615.hp1 others(5): Show HG02109.hp1 HG02486.hp1 HG02615.hp1 HG03041.hp2 HG03942.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0009 a0001c0002t0006g0059 a0001c0002t0006g0124 others(2): Show a0001c0002t0006g0009 a0001c0002t0006g0059 a0001c0002t0006g0124 a0001c0002t0006g0125 a0001c0002t0006g0126	8	374	0.0214	-15	c.906 others(32): Show c.906+1504_906+1518delACACACACACACACC	IFRD1	ENSG00000006652.15	transcript	ENST00000403825.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
IFT140_chr16_1505427_1617072	1516139	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA19003.hp1 NA19063.hp2 HG03491.hp2 NA19003.hp1 NA19063.hp2	a0002 a0003 a0031 a0002 a0003 a0031	a0002c0005 a0003c0003 a0031c0059 a0002c0005 a0003c0003 a0031c0059	a0002c0005t0001 a0003c0003t0003 a0031c0059t0003 a0002c0005t0001 a0003c0003t0003 a0031c0059t0003	a0002c0005t0001g0142 a0003c0003t0003g0029 a0031c0059t0003g0006 a0002c0005t0001g0142 a0003c0003t0003g0029 a0031c0059t0003g0006	3	334	0.0090	-15	c.418 others(34): Show c.4182+2062_4182+2076delTTTTTTTTTTTTTTT	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	30/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1585399	TGCCAAGG others(8): Show TGCCAAGGGCTGGAGA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0159 a0006c0007t0003g0159	1	334	0.0030	-15	c.115 others(32): Show c.1155+716_1155+730delTCTCCAGCCCTTGGC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	10/30			chr16	TogoVar
IFT172_chr2_27439377_27494743	27439995	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02257.hp2 others(11): Show HG01891.hp2 HG02109.hp2 HG02257.hp2 HG02622.hp2 HG02647.hp2 HG02818.hp2 HG02922.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03540.hp1 NA19030.hp1 NA19043.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0021 a0002c0004 a0001c0001 a0001c0021 a0002c0004	a0001c0001t0001 a0001c0021t0001 a0002c0004t0001 a0001c0001t0001 a0001c0021t0001 a0002c0004t0001	a0001c0001t0001g0052 a0001c0001t0001g0112 a0001c0001t0001g0115 others(11): Show a0001c0001t0001g0052 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0196 a0001c0021t0001g0118 a0002c0004t0001g0128 a0002c0004t0001g0129	14	224	0.0625	-15	c.44 others(26): Show c.4422_*4436delAAAAAAAAAAAAAAA	IFT172	ENSG00000138002.16	transcript	ENST00000260570.8	protein_coding		4381		chr2	TogoVar
IFT20_chr17_28323326_28340472	28333071	AAACACAC others(8): Show AAACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	360	0.0028	-15	c.-2- others(30): Show c.-2-1099_-2-1085delGTGTGTGTGTGTGTT	IFT20	ENSG00000109083.14	transcript	ENST00000395418.8	protein_coding	1/4			chr17	TogoVar
IFT43_chr14_75980763_76088742	75999264	TATATATA others(8): Show TATATATATGTATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp2 HG02451.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0081 a0001c0001t0001g0024 a0001c0001t0001g0081	2	396	0.0051	-15	c.147 others(34): Show c.147+10288_147+10302delATATATATGTATATA	IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8			chr14	TogoVar
IFT43_chr14_75980763_76088742	75999266	TATATATG others(8): Show TATATATGTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	396	0.0025	-15	c.147 others(34): Show c.147+10290_147+10304delATATATGTATATATA	IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8			chr14	TogoVar
IFT43_chr14_75980763_76088742	75999267	ATATATGT others(8): Show ATATATGTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	396	0.0025	-15	c.147 others(34): Show c.147+10292_147+10306delATATGTATATATATT	IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar

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