Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HSDL1_chr16_84117141_84150177	84148596	C C	CTCTCTTT others(32): Show CTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0016 a0002c0002t0005g0016	1	79	0.0127	39	c.-35 others(50): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AGAGA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSDL2_chr9_112375108_112477405	112476252	T T	TCCCCCCG others(32): Show TCCCCCCGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0199 a0001c0001t0019g0199	1	357	0.0028	39	c.57 others(50): Show c.5708_*5709insCCCCCCGCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCC	HSDL2	ENSG00000119471.15	transcript	ENST00000398805.8	protein_coding		3848		chr9	TogoVar
HSF1_chr8_144286604_144319720	144313723	G G	GCGCCGCC others(32): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02818.hp2 HG03471.hp1 others(1): Show HG01884.hp2 HG02818.hp2 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0044 a0001c0001t0001g0176 a0001c0001t0001g0023 a0001c0001t0001g0044 a0001c0001t0001g0176	4	256	0.0156	39	c.124 others(56): Show c.1248+108_1248+109insGCCGCCTCCCCGCGCCGCCTCCCCGCGC CGCGCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSPA4_chr5_133047013_133111449	133085489	T T	TAAAAAAA others(32): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18953.hp1 NA18939.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0123 a0001c0001t0001g0098 a0001c0001t0001g0123	2	208	0.0096	39	c.909 others(56): Show c.909-1280_909-1279insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
HTR2C_chrX_114579086_114915061	114807165	C C	CATGTATG others(32): Show CATGTATGTATACACCATATATATACCATGTATGTATACA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	22	0.0455	39	c.350 others(58): Show c.350-40838_350-40837insATGTATGTATACACCATATATATACC ATGTATGTATACA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5			chrX	TogoVar
HTR3B_chr11_113899796_113954079	113926482	C C	CCTTTCCT others(32): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0063 a0002c0012t0063	a0002c0012t0063g0040 a0002c0012t0063g0040	1	416	0.0024	39	c.214 others(56): Show c.214-4900_214-4862dupTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTC	HTR3B	ENSG00000149305.8	transcript	ENST00000260191.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
HUS1B_chr6_650939_662100	658629	A A	AATATATA others(32): Show AATATATATATATATTTTATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0017 a0017	a0017c0007 a0017c0007	a0017c0007t0001 a0017c0007t0001	a0017c0007t0001g0000 a0017c0007t0001g0000	1	414	0.0024	39	c.-16 others(50): Show c.-1686_-1685insATATATATATATATATATATATAAAATATATATA TATAT	HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding		1530		chr6	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0008 a0003c0008t0008	a0003c0008t0008g0126 a0003c0008t0008g0126	1	92	0.0109	39	c.884 others(56): Show c.8849+803_8849+804insAAAAATATATATATATATATATATATAT ATATATATATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
ICA1L_chr2_202768176_202876766	202847695	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0283 a0001c0001t0006g0283	1	185	0.0054	39	c.-7- others(56): Show c.-7-18680_-7-18679insTATATATATATATATATATATATATATA TATATATATAT	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(32): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0097 a0002c0002t0001g0097	1	125	0.0080	39	c.667 others(56): Show c.667+5418_667+5419insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(32): Show CCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02083.hp2 HG03041.hp1 HG02015.hp1 HG02083.hp2 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0149 a0002c0002t0001g0352 a0002c0002t0001g0098 a0002c0002t0001g0149 a0002c0002t0001g0352	3	127	0.0236	39	c.667 others(56): Show c.667+5418_667+5419insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCTTCT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(32): Show CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02572.hp1 HG01175.hp2 HG02572.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0007 a0005c0005t0003 a0002c0002t0007 a0005c0005t0003	a0002c0002t0007g0217 a0005c0005t0003g0290 a0002c0002t0007g0217 a0005c0005t0003g0290	2	126	0.0159	39	c.667 others(56): Show c.667+5418_667+5419insCCTTCTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(32): Show CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01978.hp1 HG02148.hp2 others(1): Show HG01106.hp2 HG01978.hp1 HG02148.hp2 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0008 others(1): Show a0002c0002t0001 a0002c0002t0005 a0002c0002t0008 a0002c0002t0013	a0002c0002t0001g0281 a0002c0002t0005g0282 a0002c0002t0008g0026 others(1): Show a0002c0002t0001g0281 a0002c0002t0005g0282 a0002c0002t0008g0026 a0002c0002t0013g0008	4	128	0.0313	39	c.667 others(56): Show c.667+5418_667+5419insCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995268	T T	TTCTTCTT others(32): Show TTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0009 a0006c0006t0009	a0006c0006t0009g0253 a0006c0006t0009g0253	1	243	0.0041	39	c.667 others(56): Show c.667+5450_667+5451insCTCTTCTTCTTCTTCTTCCTCTTCTTCT TCTTCTTCTTC	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFFO2_chr1_18899280_18961676	18925894	T T	TGGATGGT others(32): Show TGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0088 a0001c0001t0004g0088	1	331	0.0030	39	c.666 others(56): Show c.666-4774_666-4773insTCCATCCATCCATCCATCCATCCATCCA TCCAACCATCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925894	T T	TGGTTGGA others(32): Show TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02258.hp1 others(9): Show HG01109.hp1 HG02055.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0020 a0001c0001t0022 a0001c0001t0061 a0001c0001t0062	a0001c0001t0001g0091 a0001c0001t0004g0080 a0001c0001t0004g0085 others(9): Show a0001c0001t0001g0091 a0001c0001t0004g0080 a0001c0001t0004g0085 a0001c0001t0004g0090 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0117 a0001c0001t0008g0081 a0001c0001t0020g0095 a0001c0001t0022g0372 a0001c0001t0061g0367 a0001c0001t0062g0369	12	342	0.0351	39	c.666 others(56): Show c.666-4774_666-4773insTCCATCCATCCATCCATCCATCCATCCA TCCATCCAACC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFITM3_chr11_314676_325860	321821	C C	CTGTAGTG others(32): Show CTGTAGTGCCCAGGCAGCCGGATTATCCCATTACCTTCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03579.hp2 HG01891.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	2	30	0.0667	39	c.-10 others(50): Show c.-1009_-1008insCTGAAGGTAATGGGATAATCCGGCTGCCTGGGCA CTACA	IFITM3	ENSG00000142089.17	transcript	ENST00000399808.5	protein_coding		962		chr11	TogoVar
IFITM3_chr11_314676_325860	322174	G G	GTGGTGCC others(32): Show GTGGTGCCCAGGCAGCTGGATTATCCCATTACCTTCACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03579.hp2 HG01891.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	2	29	0.0690	39	c.-14 others(50): Show c.-1400_-1362dupTAGTGAAGGTAATGGGATAATCCAGCTGCCTGGG CACCA	IFITM3	ENSG00000142089.17	transcript	ENST00000399808.5	protein_coding		1315		chr11	TogoVar
IFITM3_chr11_314676_325860	322369	G G	GTGGTGCC others(32): Show GTGGTGCCCAGGCAGCTGGATTATCCCATTACCTTCACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03579.hp2 HG01891.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	2	30	0.0667	39	c.-15 others(50): Show c.-1595_-1557dupTAGTGAAGGTAATGGGATAATCCAGCTGCCTGGG CACCA	IFITM3	ENSG00000142089.17	transcript	ENST00000399808.5	protein_coding		1510		chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33322419	A A	ATATACGG others(32): Show ATATACGGAATATATATATGGAATATATATATGGAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0217 a0002c0002t0002g0217	1	318	0.0031	39	c.-26 others(50): Show c.-2637_-2636insTATACGGAATATATATATGGAATATATATATGGA ATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2550		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322454	A A	ATATATAT others(32): Show ATATATATATGGTATATATATATGGAATATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	320	0.0031	39	c.-26 others(50): Show c.-2602_-2601insTATATATATGGTATATATATATGGAATATATATA TATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2515		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322968	T T	TATATATA others(32): Show TATATATATGGAATATATATATGGAATATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0126 a0001c0001t0043g0126	1	318	0.0031	39	c.-20 others(50): Show c.-2088_-2087insATATATATGGAATATATATATGGAATATATATAT ATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2001		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323428	G G	GATGGAAT others(32): Show GATGGAATATATATATGGAATATAGAGATGGAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	197	0.0051	39	c.-16 others(50): Show c.-1628_-1627insATGGAATATATATATGGAATATAGAGATGGAATA TATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1541		chr21	TogoVar
IFT80_chr3_160251986_160404225	160312757	T T	TATAAATG others(32): Show TATAAATGTATATTATATATAAATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02109.hp2 HG02258.hp1 others(8): Show HG01433.hp1 HG02109.hp2 HG02258.hp1 HG02523.hp1 HG02622.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 NA18906.hp1 NA19240.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0004c0007 a0001c0001 a0001c0008 a0004c0007	a0001c0001t0001 a0001c0008t0001 a0004c0007t0001 a0001c0001t0001 a0001c0008t0001 a0004c0007t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 others(8): Show a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0008t0001g0164 a0004c0007t0001g0137	11	186	0.0591	39	c.958 others(56): Show c.958-5015_958-4977dupTATATATATATTATATATTTATATATAA TATACATTTAT	IFT80	ENSG00000068885.15	transcript	ENST00000326448.12	protein_coding	9/19			chr3	TogoVar
IGF1R_chr15_98643539_98969530	98674977	A A	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0196 a0001c0001t0090g0196	1	14	0.0714	39	c.94+ others(56): Show c.94+25326_94+25327insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTGCTGC others(32): Show GCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03490.hp1 HG03492.hp1 others(2): Show HG01934.hp2 HG03490.hp1 HG03492.hp1 HG03831.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0129 a0001c0001t0001g0140 a0001c0001t0001g0253 others(2): Show a0001c0001t0001g0129 a0001c0001t0001g0140 a0001c0001t0001g0253 a0001c0001t0025g0093 a0001c0001t0025g0103	5	103	0.0485	39	c.221 others(58): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGAAGAAGAA GCAGCAGCAGCAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTGCTGC others(32): Show GCTGCTGCTGCTTCTTCTTCTTCCTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0244 a0001c0001t0047g0244	1	99	0.0101	39	c.221 others(58): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAGGAAGAAGAA GAAGCAGCAGCAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTGCTGC others(32): Show GCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp2 HG01978.hp2 others(2): Show HG01975.hp1 HG01975.hp2 HG01978.hp2 NA19075.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0036 others(2): Show a0001c0001t0001 a0001c0001t0027 a0001c0001t0036 a0001c0001t0041 a0001c0001t0058	a0001c0001t0001g0063 a0001c0001t0027g0125 a0001c0001t0036g0133 others(2): Show a0001c0001t0001g0063 a0001c0001t0027g0125 a0001c0001t0036g0133 a0001c0001t0041g0149 a0001c0001t0058g0349	5	103	0.0485	39	c.221 others(58): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGCAGCAGCAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTGCTGC others(32): Show GCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02258.hp1 NA19030.hp1 HG02135.hp1 HG02258.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0033 a0001c0001t0001g0108 a0001c0001t0005g0258 a0001c0001t0001g0033 a0001c0001t0001g0108 a0001c0001t0005g0258	3	101	0.0297	39	c.221 others(58): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGCAGCAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTTCTTC others(32): Show GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02155.hp1 HG02165.hp2 others(4): Show HG02071.hp1 HG02155.hp1 HG02165.hp2 HG02723.hp1 NA18941.hp1 NA18970.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0055 a0001c0001t0002 a0001c0001t0004 a0001c0001t0055	a0001c0001t0002g0269 a0001c0001t0004g0062 a0001c0001t0004g0295 others(4): Show a0001c0001t0002g0269 a0001c0001t0004g0062 a0001c0001t0004g0295 a0001c0001t0004g0314 a0001c0001t0004g0317 a0001c0001t0004g0324 a0001c0001t0055g0254	7	105	0.0667	39	c.221 others(58): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF2BP2_chr3_185638130_185830042	185665329	G G	GAGGAGGA others(32): Show GAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02148.hp1 others(12): Show HG02055.hp1 HG02055.hp2 HG02148.hp1 HG02258.hp1 HG02486.hp1 HG02717.hp1 HG03209.hp2 HG03471.hp1 HG03579.hp2 HG03927.hp2 NA18522.hp1 NA18747.hp2 NA19030.hp2 NA19082.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0026 a0002c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0082 a0001c0001t0001g0208 others(12): Show a0001c0001t0001g0005 a0001c0001t0001g0082 a0001c0001t0001g0208 a0001c0001t0002g0031 a0001c0001t0003g0006 a0001c0001t0003g0029 a0001c0001t0003g0053 a0001c0001t0004g0004 a0001c0001t0004g0075 a0001c0001t0004g0133 a0001c0001t0005g0068 a0001c0001t0012g0074 a0001c0001t0013g0054 a0001c0001t0026g0069 a0002c0003t0001g0059	15	140	0.1071	39	c.120 others(58): Show c.1201-6921_1201-6920insTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	10/15			chr3	TogoVar
IHO1_chr3_49194498_49263106	49214632	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0045 a0002c0003t0002g0045	1	20	0.0500	39	c.56+ others(54): Show c.56+2797_56+2798insATATATATATATATATATATATATTTTTTT TTTTTTTTT	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IHO1_chr3_49194498_49263106	49214632	A A	ATATATAT others(32): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0040 a0002c0003t0002g0040	1	20	0.0500	39	c.56+ others(54): Show c.56+2797_56+2798insATATATATATATATATATATTTTTTTTTTT TTTTTTTTT	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IKZF3_chr17_39752718_39869312	39811249	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0131 a0001c0001t0021g0131	1	254	0.0039	39	c.163 others(58): Show c.163+18137_163+18138insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT	IKZF3	ENSG00000161405.17	transcript	ENST00000346872.8	protein_coding	3/7			chr17	TogoVar
IK_chr5_140642829_140667480	140660292	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	143	0.0070	39	c.135 others(56): Show c.1355+119_1355+120insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	IK	ENSG00000113141.19	transcript	ENST00000417647.7	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL11_chr19_55359382_55375463	55361662	T T	TCAGACCC others(32): Show TCAGACCCAGGAGAGTTCAGACTGCCAGCCCTTCACCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	350	0.0029	39	c.43 others(50): Show c.4344_*4345insGAGGGTGAAGGGCTGGCAGTCTGAACTCTCCTGG GTCTG	IL11	ENSG00000095752.7	transcript	ENST00000264563.7	protein_coding		2719		chr19	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAC others(32): Show ATATATACATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0017 a0002c0006t0017	a0002c0006t0017g0299 a0002c0006t0017g0299	1	59	0.0169	39	c.313 others(58): Show c.313-16608_313-16607insATATACATATATATATATATATATAT ATATATATATTTT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAC others(32): Show ATATATACATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0279 a0001c0002t0006g0279	1	59	0.0169	39	c.313 others(58): Show c.313-16608_313-16607insATATACATATATATATATATATATAT ATATATATTTTTT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAC others(32): Show ATATATACATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0302 a0001c0002t0003g0302	1	59	0.0169	39	c.313 others(58): Show c.313-16608_313-16607insATATACATATATATATATATATATAT ATATATTTTTTTT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAT others(32): Show ATATATATACATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18945.hp1 HG00544.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0274 a0001c0002t0003g0286 a0001c0002t0003g0274 a0001c0002t0003g0286	2	60	0.0333	39	c.313 others(58): Show c.313-16608_313-16607insATATATACATATATATATATATATAT ATATATATATTTT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAT others(32): Show ATATATATACATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18997.hp2 NA19003.hp1 others(1): Show NA18973.hp1 NA18997.hp2 NA19003.hp1 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0272 a0001c0002t0003g0275 a0001c0002t0003g0276 others(1): Show a0001c0002t0003g0272 a0001c0002t0003g0275 a0001c0002t0003g0276 a0001c0002t0003g0303	4	62	0.0645	39	c.313 others(58): Show c.313-16608_313-16607insATATATACATATATATATATATATAT ATATATATTTTTT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAT others(32): Show ATATATATATACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18939.hp1 HG02083.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0331 a0001c0002t0005g0251 a0001c0002t0003g0331 a0001c0002t0005g0251	2	60	0.0333	39	c.313 others(58): Show c.313-16608_313-16607insATATATATACATATATATATATATAT ATATATATATATT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL17B_chr5_149369267_149384292	149370033	T T	TTTTTTTT others(32): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 NA19065.hp2 HG02015.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	285	0.0070	39	c.43 others(50): Show c.4335_*4336insGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAA	IL17B	ENSG00000127743.6	transcript	ENST00000261796.4	protein_coding		4233		chr5	TogoVar
IL17RA_chr22_17080000_17120693	17104234	T T	TGTGGTGT others(32): Show TGTGGTGTGGCTGGGAGTGGGGAGCGTGCACAGGTGGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00609.hp1 others(57): Show HG00280.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01256.hp1 HG01258.hp2 HG01516.hp2 HG01891.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02135.hp2 HG02258.hp2 HG02622.hp2 HG02683.hp2 HG02735.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 NA18522.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18947.hp2 NA18954.hp2 NA18956.hp2 NA18970.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18999.hp1 NA19000.hp2 NA19007.hp2 NA19009.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19084.hp1 NA19086.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0013	a0001c0001 a0001c0006 a0001c0036 others(6): Show a0001c0001 a0001c0006 a0001c0036 a0002c0003 a0002c0009 a0002c0015 a0003c0002 a0007c0010 a0013c0017	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(30): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0019 a0001c0001t0037 a0001c0001t0043 a0001c0001t0090 a0001c0001t0099 a0001c0001t0100 a0001c0001t0103 a0001c0006t0007 a0001c0006t0019 a0001c0006t0094 a0001c0006t0095 a0001c0006t0098 a0001c0036t0091 a0002c0003t0008 a0002c0003t0017 a0002c0003t0020 a0002c0003t0026 a0002c0003t0032 a0002c0003t0055 a0002c0003t0057 a0002c0003t0058 a0002c0003t0060 a0002c0003t0108 a0002c0009t0021 a0002c0015t0020 a0003c0002t0003 a0007c0010t0041 a0007c0010t0062 a0013c0017t0059	a0001c0001t0002g0298 a0001c0001t0003g0159 a0001c0001t0005g0081 others(52): Show a0001c0001t0002g0298 a0001c0001t0003g0159 a0001c0001t0005g0081 a0001c0001t0007g0279 a0001c0001t0019g0046 a0001c0001t0037g0017 a0001c0001t0043g0033 a0001c0001t0090g0364 a0001c0001t0099g0248 a0001c0001t0100g0383 a0001c0001t0103g0192 a0001c0006t0007g0005 a0001c0006t0007g0119 a0001c0006t0007g0169 a0001c0006t0007g0170 a0001c0006t0007g0235 a0001c0006t0007g0275 a0001c0006t0007g0284 a0001c0006t0007g0286 a0001c0006t0007g0296 a0001c0006t0007g0374 a0001c0006t0019g0034 a0001c0006t0019g0084 a0001c0006t0019g0101 a0001c0006t0094g0278 a0001c0006t0095g0314 a0001c0006t0098g0190 a0001c0036t0091g0282 a0002c0003t0008g0013 a0002c0003t0008g0201 a0002c0003t0008g0220 a0002c0003t0008g0233 a0002c0003t0017g0014 a0002c0003t0017g0184 a0002c0003t0017g0273 a0002c0003t0017g0328 a0002c0003t0020g0120 a0002c0003t0020g0122 a0002c0003t0020g0255 a0002c0003t0026g0027 a0002c0003t0026g0052 a0002c0003t0032g0205 a0002c0003t0032g0261 a0002c0003t0055g0276 a0002c0003t0057g0322 a0002c0003t0058g0388 a0002c0003t0060g0147 a0002c0003t0108g0114 a0002c0009t0021g0386 a0002c0015t0020g0123 a0003c0002t0003g0323 a0007c0010t0041g0102 a0007c0010t0041g0103 a0007c0010t0062g0154 a0013c0017t0059g0172	60	396	0.1515	39	c.847 others(54): Show c.847-488_847-450dupGTGTGGCTGGGAGTGGGGAGCGTGCACAGG TGGAGAGTG	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL17RD_chr3_57084982_57170353	57105552	A A	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0009 a0002c0007t0009	a0002c0007t0009g0312 a0002c0007t0009g0312	1	174	0.0057	39	c.747 others(54): Show c.747+304_747+305insATATATATATATATATATATATATATATAT ATATTTTTT	IL17RD	ENSG00000144730.19	transcript	ENST00000296318.12	protein_coding	7/12			chr3	TogoVar
IL1RAPL1_chrX_28582446_29961718	29918144	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	39	0.0256	39	c.911 others(54): Show c.911+549_911+550insAAAAAAAAAAATATATATATATATATATAT ATATATATA	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	104855681	G G	GTGTTTTT others(32): Show GTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	75	0.0133	39	c.82+ others(58): Show c.82+196687_82+196688insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RL1_chr2_102306563_102357037	102311873	T T	TTATATAA others(32): Show TTATATAATATAATTATATAATATATATTATATAATATAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0172 a0002c0005t0003g0172	1	346	0.0029	39	c.-15 others(56): Show c.-150+263_-150+264insTATATAATATATATTATATAATATAATA TATAATATAAT	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
IL20RA_chr6_136994971_137049965	137045834	T T	TTTGTTGA others(32): Show TTTGTTGAACGAGCCGTCTCGTTAGCCCAGCTGAGTGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0221 a0002c0002t0003g0221	1	330	0.0030	39	c.-11 others(50): Show c.-1107_-1106insCTGCACTCAGCTGGGCTAACGAGACGGCTCGTTC AACAA	IL20RA	ENSG00000016402.14	transcript	ENST00000316649.10	protein_coding		870		chr6	TogoVar
IL20_chr1_206860623_206874223	206867824	C C	CCTTCACA others(32): Show CCTTCACACCTTCTCATGTCTGCCAGGAAGGCCTGGATTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	454	0.0022	39	c.453 others(54): Show c.453+368_453+406dupTTCACACCTTCTCATGTCTGCCAGGAAGGC CTGGATTTC	IL20	ENSG00000162891.11	transcript	ENST00000367098.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar

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