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
CHCHD6_chr3_126699240_126965420	126910273	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAACAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	66	0.0152	28	c.496 others(45): Show c.496-4385_496-4384insAAAAACAAAAAAAAAAAAACAAAAAAAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0147 a0001c0007t0001g0147	1	26	0.0385	28	c.34 others(39): Show c.3491_*3492insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3239		chr1	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03471.hp2 HG02965.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0079 a0002c0002t0005g0029 a0002c0002t0002g0079 a0002c0002t0005g0029	2	120	0.0167	28	c.54- others(43): Show c.54-6076_54-6049dupATATATATATATATATATATATATATAT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98917299	C C	CCAAAAAA others(21): Show CCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02895.hp2 HG02897.hp2 others(3): Show HG02486.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03139.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0012 a0001c0003t0002 a0001c0003t0012	a0001c0003t0002g0004 a0001c0003t0002g0071 a0001c0003t0012g0293 others(2): Show a0001c0003t0002g0004 a0001c0003t0002g0071 a0001c0003t0012g0293 a0001c0003t0012g0294 a0001c0003t0012g0296	6	106	0.0566	28	c.53+ others(43): Show c.53+9034_53+9035insTTTTTTTTTTTTTTTTTTTTTTTTTTTG	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	121	0.0083	28	c.853 others(45): Show c.853-4721_853-4720insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36			chr20	TogoVar
CHD9_chr16_53049991_53332497	53146413	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19068.hp1 NA19088.hp1 NA18981.hp2 NA19068.hp1 NA19088.hp1	a0001 a0008 a0001 a0008	a0001c0005 a0008c0018 a0001c0005 a0008c0018	a0001c0005t0005 a0008c0018t0005 a0001c0005t0005 a0008c0018t0005	a0001c0005t0005g0129 a0001c0005t0005g0145 a0008c0018t0005g0149 a0001c0005t0005g0129 a0001c0005t0005g0145 a0008c0018t0005g0149	3	230	0.0130	28	c.-16 others(47): Show c.-164-9512_-164-9511insATATATATATATATATATATATATAT AT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01074.hp2 others(8): Show HG00140.hp1 HG00323.hp2 HG01074.hp2 HG01243.hp2 HG02451.hp2 HG02486.hp1 HG02809.hp2 HG03486.hp2 HG03669.hp2 HG04184.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0038 a0001c0001t0001g0078 a0001c0001t0001g0091 others(8): Show a0001c0001t0001g0038 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0185 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0014t0001g0037	11	44	0.2500	28	c.-16 others(47): Show c.-164-9489_-164-9488insTATATATATATATATATATATATATA TA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATGTAT others(21): Show GTATGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00558.hp2 others(12): Show HG00140.hp2 HG00408.hp2 HG00558.hp2 HG00621.hp2 HG01109.hp2 HG02135.hp1 HG04115.hp2 NA18962.hp1 NA18972.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19062.hp2 NA19088.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0015 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0003t0002 a0001c0003t0019	a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0084 others(12): Show a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0015g0166 a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0058 a0001c0003t0002g0064 a0001c0003t0002g0146 a0001c0003t0002g0191 a0001c0003t0002g0224 a0001c0003t0019g0006	15	48	0.3125	28	c.-16 others(47): Show c.-164-9504_-164-9503insGTATATATATATATATATATATATAT AT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03098.hp1 HG03540.hp2 HG02630.hp1 HG03098.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0001t0001 a0001c0001t0003 a0001c0001t0020	a0001c0001t0001g0039 a0001c0001t0003g0034 a0001c0001t0020g0021 a0001c0001t0001g0039 a0001c0001t0003g0034 a0001c0001t0020g0021	3	36	0.0833	28	c.-16 others(47): Show c.-164-9506_-164-9505insGTATATATATATATATATATATATAT AT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146436	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	228	0.0044	28	c.-16 others(47): Show c.-164-9489_-164-9488insTATATATATATATATATATATATATA AA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHEK1_chr11_125620163_125662147	125650840	C C	CTTAAATT others(21): Show CTTAAATTCTGTATACCAAAAACAAAAAA	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	382	0.0026	28	c.123 others(47): Show c.1234-2904_1234-2877dupTAAATTCTGTATACCAAAAACAAAAA AT	CHEK1	ENSG00000149554.15	transcript	ENST00000438015.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CHEK2_chr22_28682743_28746820	28698228	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG02015.hp2 others(4): Show HG00438.hp2 HG00673.hp1 HG02015.hp2 HG02129.hp1 HG04184.hp2 NA18994.hp2 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0362 a0001c0002t0001g0363 others(4): Show a0001c0002t0001g0007 a0001c0002t0001g0362 a0001c0002t0001g0363 a0001c0002t0001g0364 a0001c0002t0001g0367 a0001c0002t0001g0368 a0001c0002t0001g0369	7	109	0.0642	28	c.100 others(47): Show c.1009-1242_1009-1241insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	9/14			chr22	TogoVar
CHGB_chr20_5906510_5930353	5926068	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	407	0.0025	28	c.10 others(39): Show c.1019_*1020insAAAAAAATATATATATATATATATATAT	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		716		chr20	TogoVar
CHIC1_chrX_73558197_73692111	73655430	G G	GTGTATAT others(21): Show GTGTATATATATACATATATACACAATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01361.hp2 HG02148.hp1 others(2): Show HG01261.hp1 HG01361.hp2 HG02148.hp1 HG02273.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 others(2): Show a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092	5	206	0.0243	28	c.508 others(47): Show c.508-23892_508-23865dupATATATATACATATATACACAATATT GT	CHIC1	ENSG00000204116.12	transcript	ENST00000373502.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
CHL1_chr3_191763_414417	194897	A A	ATCCTTCC others(21): Show ATCCTTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0237 a0004c0004t0008g0237	1	277	0.0036	28	c.-23 others(39): Show c.-2341_-2340insTCCTTCCTTCCTTCCTTCCTTCCTTCCT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding		1865		chr3	TogoVar
CHM_chrX_85856180_86052558	85856289	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG03516.hp1 HG02080.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0107 a0001c0001t0001g0016 a0001c0001t0001g0107	2	114	0.0175	28	c.83 others(39): Show c.8340_*8341insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding		4890		chrX	TogoVar
CHM_chrX_85856180_86052558	85871320	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0214 a0001c0001t0005g0214	1	232	0.0043	28	c.177 others(47): Show c.1770+1731_1770+1732insCTTTTTTTTTTTTTTTTTTTTTTTTT TT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	14/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	45	0.0222	28	c.116 others(47): Show c.1167-2022_1167-1995dupCTTTCTTTCTTTCTTTCTTTCTTTCT TT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85949978	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02135.hp1 HG02145.hp1 others(6): Show HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02895.hp1 HG02897.hp1 HG03540.hp2 NA18949.hp1 NA18957.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0003t0004	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0169 others(6): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0169 a0001c0001t0001g0198 a0001c0001t0002g0189 a0001c0001t0003g0128 a0001c0001t0004g0224 a0001c0001t0005g0236 a0001c0003t0004g0226	9	25	0.3600	28	c.116 others(47): Show c.1166+6147_1166+6174dupATATATATATATATATATATATATAT AT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85981204	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0193 a0001c0001t0009g0193	1	238	0.0042	28	c.189 others(43): Show c.189+532_189+533insTATATATATATATATATATATATATATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85981206	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19240.hp1 HG02145.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0189 a0001c0001t0005g0236 a0001c0001t0002g0189 a0001c0001t0005g0236	2	181	0.0110	28	c.189 others(43): Show c.189+530_189+531insTATATATATATATATATATATATATATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85981206	C C	CTATTTCT others(21): Show CTATTTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18984.hp1 NA18990.hp1 others(1): Show NA18940.hp1 NA18984.hp1 NA18990.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0066 others(1): Show a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0066 a0001c0002t0002g0071	4	183	0.0219	28	c.189 others(43): Show c.189+530_189+531insTATATATATATATATATATATAGAAATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14			chrX	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02040.hp1 NA18991.hp1 HG00558.hp2 HG02040.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009	a0001c0001t0003g0185 a0001c0001t0005g0209 a0001c0001t0009g0190 a0001c0001t0003g0185 a0001c0001t0005g0209 a0001c0001t0009g0190	3	121	0.0248	28	c.49+ others(41): Show c.49+640_49+641insAGAGAGAGAGAGAGAGAGAGAGTGTGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0103 a0001c0002t0002g0103	1	119	0.0084	28	c.49+ others(41): Show c.49+640_49+641insAGAGAGAGAGAGAGAGTGTGTGTGTGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29233825	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0080 a0001c0002t0002g0080	1	46	0.0217	28	c.49+ others(45): Show c.49+38861_49+38862insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252578	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0202 a0001c0002t0002g0202	1	117	0.0085	28	c.49+ others(45): Show c.49+57589_49+57616dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273347	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01167.hp1 HG02109.hp2 others(3): Show HG00609.hp2 HG01167.hp1 HG02109.hp2 HG02145.hp1 HG04228.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0002c0003t0021 a0002c0004t0007	a0001c0001t0001g0146 a0001c0001t0003g0206 a0001c0001t0005g0072 others(3): Show a0001c0001t0001g0146 a0001c0001t0003g0206 a0001c0001t0005g0072 a0001c0002t0002g0179 a0002c0003t0021g0116 a0002c0004t0007g0087	6	208	0.0288	28	c.49+ others(45): Show c.49+78382_49+78383insGTGTATATATATATATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273349	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0013 a0003c0007t0013	a0003c0007t0013g0020 a0003c0007t0013g0020	1	219	0.0046	28	c.49+ others(45): Show c.49+78384_49+78385insGTGTATATATATATATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273351	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0204 a0001c0001t0007g0204	1	225	0.0044	28	c.49+ others(45): Show c.49+78386_49+78387insGTGTATATATATATATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29405212	C C	CACACACA others(21): Show CACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0033 a0002c0003t0004g0033	1	230	0.0043	28	c.576 others(45): Show c.576+4394_576+4395insACACACACACACACACAAACACACACAC	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29442934	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp2 NA18986.hp1 HG03471.hp1 HG03471.hp2 NA18986.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0009 a0001c0001t0012 a0002c0004t0006 a0001c0001t0009 a0001c0001t0012 a0002c0004t0006	a0001c0001t0009g0038 a0001c0001t0012g0091 a0002c0004t0006g0119 a0001c0001t0009g0038 a0001c0001t0012g0091 a0002c0004t0006g0119	3	91	0.0330	28	c.577 others(47): Show c.577-37328_577-37327insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHODL_chr21_18239833_18272370	18251582	A A	AAAATATT others(21): Show AAAATATTTATTTTATTATTTTAATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02258.hp2 HG02280.hp1 others(8): Show HG00639.hp1 HG02258.hp2 HG02280.hp1 HG02818.hp1 HG02895.hp1 HG03041.hp1 HG03139.hp1 HG03486.hp2 HG03516.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0025 a0001c0002t0008 a0001c0001t0003 a0001c0001t0025 a0001c0002t0008	a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 others(5): Show a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0025g0267 a0001c0002t0008g0015	11	399	0.0276	28	c.80- others(43): Show c.80-4911_80-4910insATTTTAATATATAAATATTTATTTTATT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHP2_chr16_23750026_23763935	23750869	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	292	0.0034	28	c.-41 others(39): Show c.-4181_-4180insTTTCTTTCTTTCTTTCTTTCTTTCTTTC	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		4156		chr16	TogoVar
CHP2_chr16_23750026_23763935	23759381	C C	CTTCTTTC others(21): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01069.hp1 HG01175.hp1 others(27): Show HG00408.hp2 HG01069.hp1 HG01175.hp1 HG01192.hp1 HG01257.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02300.hp1 HG02683.hp2 HG02886.hp2 HG02922.hp1 HG03041.hp1 HG03669.hp1 NA18939.hp2 NA18969.hp1 NA18977.hp1 NA18981.hp2 NA18982.hp1 NA18991.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0002g0005 a0001c0001t0003g0002 a0001c0001t0004g0009 a0001c0001t0005g0002	30	140	0.2143	28	c.17 others(39): Show c.1798_*1799insTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		447		chr16	TogoVar
CHRDL1_chrX_110668856_110800817	110689841	A A	ATCTATAT others(21): Show ATCTATATATCTATATATATCTATATATC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0005 a0001c0001t0027g0005	1	170	0.0059	28	c.779 others(45): Show c.779-1066_779-1039dupGATATATAGATATATATAGATATATAGA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689905	C C	CTATATAT others(21): Show CTATATATCTATATATATCTATATATCTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG02897.hp1 others(2): Show HG02622.hp2 HG02809.hp2 HG02897.hp1 HG03041.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0032 a0002c0003t0033 others(2): Show a0001c0001t0002 a0002c0003t0032 a0002c0003t0033 a0002c0003t0035 a0002c0003t0037	a0001c0001t0002g0107 a0002c0003t0032g0027 a0002c0003t0033g0016 others(2): Show a0001c0001t0002g0107 a0002c0003t0032g0027 a0002c0003t0033g0016 a0002c0003t0035g0017 a0002c0003t0037g0129	5	165	0.0303	28	c.779 others(45): Show c.779-1130_779-1103dupTAGATATATAGATATATATAGATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRD_chr3_184375054_184394829	184388245	A A	ATCCATCC others(21): Show ATCCATCCATCCATCCATCCGTCCGTCCG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0059 a0002c0010t0001g0059	1	424	0.0024	28	c.255 others(45): Show c.2554+231_2554+232insGTCCGTCCGTCCATCCATCCATCCATCC	CHRD	ENSG00000090539.16	transcript	ENST00000204604.6	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHRFAM7A_chr15_30355566_30398540	30393865	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0010 a0002c0008t0010	a0002c0008t0010g0118 a0002c0008t0010g0118	1	87	0.0115	28	c.-77 others(37): Show c.-771_-770insTAGACACACACACACACACACACACACA	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding		326		chr15	TogoVar
CHRM1_chr11_62903679_62926363	62924656	C C	CTATATAT others(21): Show CTATATATATATATATATACATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0028 a0001c0003t0002g0028	1	410	0.0024	28	c.-35 others(39): Show c.-3518_-3517insTATATATATGTATATATATATATATATA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3294		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924668	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	228	0.0044	28	c.-35 others(39): Show c.-3530_-3529insTATATATATATATATAGAGAGAGAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3306		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924668	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	228	0.0044	28	c.-35 others(39): Show c.-3530_-3529insTATATATATATAGAGAGAGAGAGAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3306		chr11	TogoVar
CHRM2_chr7_136863652_137025213	136867861	T T	TATATATT others(21): Show TATATATTCTGGATATATATATCCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	289	0.0035	28	c.-14 others(39): Show c.-1414_-1413insATATATTCTGGATATATATATCCTGGAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		790		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136921794	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01123.hp1 others(8): Show HG00735.hp2 HG01069.hp1 HG01123.hp1 HG01175.hp2 HG01433.hp2 HG01516.hp1 HG02145.hp2 HG04115.hp1 HG06807.hp1 NA18984.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0061	a0001c0001t0001g0005 a0001c0001t0002g0091 a0001c0001t0006g0279 others(8): Show a0001c0001t0001g0005 a0001c0001t0002g0091 a0001c0001t0006g0279 a0001c0001t0007g0088 a0001c0001t0007g0287 a0001c0001t0007g0302 a0001c0001t0007g0316 a0001c0001t0008g0073 a0001c0001t0008g0074 a0001c0001t0010g0066 a0001c0001t0061g0155	11	133	0.0827	28	c.-12 others(49): Show c.-125+52384_-125+52385insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137000547	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0064 a0001c0003t0028g0064	1	96	0.0104	28	c.-47 others(45): Show c.-47+8298_-47+8299insAGAAGGAAGGAAGGAAGGAAGGAAGGAA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239383054	G G	GTCTCTCT others(21): Show GTCTCTCTCTTTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02109.hp1 HG06807.hp2 others(1): Show HG01106.hp2 HG02109.hp1 HG06807.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0056 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0056 a0001c0001t0057	a0001c0001t0001g0008 a0001c0001t0009g0111 a0001c0001t0056g0084 others(1): Show a0001c0001t0001g0008 a0001c0001t0009g0111 a0001c0001t0056g0084 a0001c0001t0057g0012	4	52	0.0769	28	c.-46 others(39): Show c.-4694_-4693insTCTCTCTCTTTCTCTCTCTCTCTCTCTC	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		3513		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239634373	A A	AAATGAAA others(21): Show AAATGAAAGAAAGAAAGACAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03540.hp1 HG03130.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0054 a0001c0001t0029 a0001c0001t0054	a0001c0001t0029g0089 a0001c0001t0054g0113 a0001c0001t0029g0089 a0001c0001t0054g0113	2	101	0.0198	28	c.-25 others(47): Show c.-250+2089_-250+2090insTGAAAGAAAGAAAGACAGAAAGAAAG AA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239634376	C C	CGAAAGAA others(21): Show CGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp2 HG03139.hp1 others(1): Show HG01243.hp2 HG02451.hp2 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 others(1): Show a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0055	a0001c0001t0019g0025 a0001c0001t0020g0021 a0001c0001t0027g0020 others(1): Show a0001c0001t0019g0025 a0001c0001t0020g0021 a0001c0001t0027g0020 a0001c0001t0055g0079	4	61	0.0656	28	c.-25 others(47): Show c.-250+2092_-250+2119dupAAAGAAAGAAAGAAAGAAAGAAAGAA AG	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239684748	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03710.hp1 HG03540.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0036 a0001c0001t0002 a0001c0001t0036	a0001c0001t0002g0062 a0001c0001t0036g0018 a0001c0001t0002g0062 a0001c0001t0036g0018	2	74	0.0270	28	c.-14 others(47): Show c.-147+6483_-147+6484insAAGAAAGAAAGAAAGAAAGAAAGAAA GA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA3_chr15_78590309_78625996	78607483	A A	AAAGTCAG others(21): Show AAAGTCAGGAGATTGAGACCATCCTGGCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG01243.hp1 others(32): Show HG00408.hp2 HG00597.hp2 HG01243.hp1 HG01346.hp1 HG01358.hp2 HG02055.hp2 HG02083.hp1 HG02258.hp1 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp2 HG02886.hp1 HG02965.hp1 HG03041.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp2 NA18522.hp2 NA18952.hp1 NA18957.hp2 NA18960.hp1 NA18977.hp1 NA18983.hp1 NA18989.hp2 NA19005.hp2 NA19030.hp1 NA19043.hp1 NA19076.hp2 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0006 a0001c0004t0009 others(1): Show a0001c0004t0005 a0001c0004t0006 a0001c0004t0009 a0001c0004t0013	a0001c0004t0005g0017 a0001c0004t0005g0217 a0001c0004t0005g0221 others(25): Show a0001c0004t0005g0017 a0001c0004t0005g0217 a0001c0004t0005g0221 a0001c0004t0005g0232 a0001c0004t0005g0233 a0001c0004t0005g0234 a0001c0004t0005g0235 a0001c0004t0005g0236 a0001c0004t0005g0237 a0001c0004t0005g0238 a0001c0004t0006g0016 a0001c0004t0006g0050 a0001c0004t0006g0051 a0001c0004t0006g0052 a0001c0004t0006g0216 a0001c0004t0006g0222 a0001c0004t0006g0223 a0001c0004t0006g0224 a0001c0004t0006g0225 a0001c0004t0006g0226 a0001c0004t0006g0227 a0001c0004t0006g0228 a0001c0004t0006g0239 a0001c0004t0009g0220 a0001c0004t0009g0230 a0001c0004t0009g0231 a0001c0004t0013g0219 a0001c0004t0013g0229	35	408	0.0858	28	c.378 others(45): Show c.378-5247_378-5220dupAGCCAGGATGGTCTCAATCTCCTGACTT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	4/5			chr15	TogoVar
CHRNA4_chr20_63338223_63366349	63339738	A A	ACATCATA others(21): Show ACATCATATCCACACAGATGAATGAATTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 NA19043.hp2 HG01074.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0035 a0001c0004t0002 a0001c0001t0035 a0001c0004t0002	a0001c0001t0035g0122 a0001c0004t0002g0049 a0001c0001t0035g0122 a0001c0004t0002g0049	2	166	0.0120	28	c.69 others(39): Show c.6999_*7000insCAATTCATTCATCTGTGTGGATATGATG	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		3484		chr20	TogoVar

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