Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ANKRD34A_chr1_145954441_145969575	145956782	A A	AAACTACC others(44): Show AAACTACCCTAGTTAAACGAAAACAACAAAGAAAACCCTCACATCCCTCT TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	388	0.0026	51	c.34 others(62): Show c.3436_*3486dupAAAGAGGGATGTGAGGGTTTTCTTTGTTGTTTTC GTTTAACTAGGGTAGTT		ANKRD34A	ENSG00000272031.3	transcript	ENST00000606888.3	protein_coding					2658		chr1	TogoVar
ANKS1B_chr12_98738974_99989936	99139440	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0003 a0001c0004t0012g0003	1	2	0.5000	51	c.252 others(72): Show c.2526+14848_2526+14849insGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAA		ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26						chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99493386	G G	GGGAAGTG others(44): Show GGGAAGTGTTACAAGGGAAACAGGACTTTAGGAAACTATTATAATAGTCC AA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03453.hp2 HG02145.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0012 a0001c0001t0020g0014 a0001c0001t0002g0012 a0001c0001t0020g0014	2	46	0.0435	51	c.143 others(72): Show c.1438+11039_1438+11089dupTTGGACTATTATAATAGTTTCCTA AAGTCCTGTTTCCCTTGTAACACTTCC		ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	10/26						chr12	TogoVar
ANP32A_chr15_68773535_68825895	68807365	C C	CCCGGGGC others(44): Show CCCGGGGCAAGGGGATGCCTGCAGCTTGGCTGGTATTCCTCCCGCCCCAC CT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	352	0.0028	51	c.54+ others(68): Show c.54+13282_54+13332dupAGGTGGGGCGGGAGGAATACCAGCCAAG CTGCAGGCATCCCCTTGCCCCGG		ANP32A	ENSG00000140350.15	transcript	ENST00000465139.6	protein_coding	1/6						chr15	TogoVar
AOX1_chr2_200581014_200676495	200657190	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT TT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0009 a0006c0010t0009	a0006c0010t0009g0278 a0006c0010t0009g0278	1	88	0.0114	51	c.317 others(68): Show c.3171+254_3171+255insATATATATATATATATATATATATATAT ATATATATATATTTTTTTTTTTT		AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34					INFO_REALIGN_3_PRIME	chr2	TogoVar
AP3S2_chr15_89825599_89898994	89854666	T T	TGCCCGGC others(44): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCC CC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0117 a0001c0001t0015g0117	1	304	0.0033	51	c.345 others(70): Show c.345+16808_345+16809insGGGGGGGCCGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGC		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5						chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854796	T T	TGGGGGGG others(44): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0139	1	115	0.0087	51	c.345 others(70): Show c.345+16628_345+16678dupCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCC		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5						chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854894	T T	TGGGGGGG others(44): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0088 a0001c0001t0005g0088	1	135	0.0074	51	c.345 others(70): Show c.345+16580_345+16581insCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCC		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5						chr15	TogoVar
APBB2_chr4_40805027_41219542	41159907	A A	AAGGAGAA others(44): Show AAGGAGAAGGAGAAGGAGAAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0022 a0002c0001t0022	a0002c0001t0022g0091 a0002c0001t0022g0091	1	97	0.0103	51	c.-41 others(72): Show c.-416-16766_-416-16765insCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTTCTCCTTCTCCTTCTCCT		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17						chr4	TogoVar
APLP2_chr11_130064894_130149805	130090900	C C	CCCCCCCA others(44): Show CCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGA CA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0131 a0002c0002t0002g0131	1	269	0.0037	51	c.106 others(70): Show c.106-18524_106-18523insCATCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCCGACACCCCC		APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr11	TogoVar
APLP2_chr11_130064894_130149805	130090937	C C	CGGGGGGG others(44): Show CGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02148.hp1 HG02056.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0180 a0001c0001t0001g0129 a0001c0001t0001g0180	2	268	0.0075	51	c.106 others(70): Show c.106-18486_106-18485insGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGG		APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr11	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	34	0.0294	51	c.-63 others(60): Show c.-637_-636insAAAAAAAAAAAAAAAAAATATATATATATATATATA TATATATATATATAT		APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding					636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35730345	G G	GGTGCGGA others(44): Show GGTGCGGAGGCTCACGTCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGG GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0003 a0006c0009t0001g0003	1	400	0.0025	51	c.99 others(60): Show c.998_*999insGTGCGGAGGCTCACGTCTGTAATCCCAGCACTTTGG GAAGCCGAGGTGGGC		APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding					863		chr22	TogoVar
ARFRP1_chr20_63693647_63712976	63693687	A A	ACCACCTC others(44): Show ACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCAC CT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	221	0.0045	51	c.67 others(62): Show c.6755_*6756insAGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGT GGTGGTGGTGGAGGTGG		ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding					4959		chr20	TogoVar
ARFRP1_chr20_63693647_63712976	63693723	A A	ACCTCCAC others(44): Show ACCTCCACCTCCACCTCCACCACCACCACCACCACCTCCACCACCTCCAC CT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	217	0.0046	51	c.67 others(62): Show c.6719_*6720insAGGTGGAGGTGGTGGAGGTGGTGGTGGTGGTGGT GGAGGTGGAGGTGGAGG		ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding					4923		chr20	TogoVar
ARHGAP21_chr10_24578614_24728887	24656753	G G	GCCCCCCG others(44): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCG GC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	341	0.0029	51	c.268 others(70): Show c.268+10231_268+10232insGCCGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGG		ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25						chr10	TogoVar
ARHGAP21_chr10_24578614_24728887	24656848	T T	TCGGCCCC others(44): Show TCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	297	0.0034	51	c.268 others(70): Show c.268+10136_268+10137insTCCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCCG		ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25						chr10	TogoVar
ARHGAP21_chr10_24578614_24728887	24656938	T T	TCGGGGGG others(44): Show TCGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	236	0.0042	51	c.268 others(70): Show c.268+10046_268+10047insCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCG		ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25						chr10	TogoVar
ARHGAP21_chr10_24578614_24728887	24656938	T T	TGGGGGGG others(44): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01169.hp2 others(21): Show HG00323.hp1 HG00639.hp2 HG01169.hp2 HG01978.hp1 HG01993.hp1 HG02083.hp2 HG02109.hp1 HG02970.hp2 HG03486.hp2 HG03492.hp2 HG03579.hp1 HG03710.hp1 HG03834.hp2 HG06807.hp1 NA18941.hp2 NA18970.hp1 NA18986.hp1 NA18988.hp1 NA18998.hp2 NA19002.hp2 NA19078.hp1 NA19085.hp2 NA19090.hp1 NA20129.hp1	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0009 a0011	a0001c0001 a0003c0003 a0007c0008 others(2): Show a0001c0001 a0003c0003 a0007c0008 a0009c0010 a0011c0011	a0001c0001t0001 a0003c0003t0001 a0007c0008t0001 others(2): Show a0001c0001t0001 a0003c0003t0001 a0007c0008t0001 a0009c0010t0001 a0011c0011t0001	a0001c0001t0001g0013 a0001c0001t0001g0170 a0001c0001t0001g0186 others(21): Show a0001c0001t0001g0013 a0001c0001t0001g0170 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0001g0273 a0003c0003t0001g0176 a0003c0003t0001g0205 a0003c0003t0001g0211 a0003c0003t0001g0217 a0003c0003t0001g0225 a0003c0003t0001g0266 a0007c0008t0001g0262 a0009c0010t0001g0268 a0011c0011t0001g0260	24	259	0.0927	51	c.268 others(70): Show c.268+10046_268+10047insCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCC		ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25						chr10	TogoVar
ARHGAP23_chr17_38423464_38517385	38513099	T T	TATATATA others(44): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0016 a0016	a0016c0057 a0016c0057	a0016c0057t0001 a0016c0057t0001	a0016c0057t0001g0278 a0016c0057t0001g0278	1	302	0.0033	51	c.21 others(62): Show c.2127_*2128insATATATATATATATATATATATATATATATATAT ATATATATATATATATA		ARHGAP23	ENSG00000275832.5	transcript	ENST00000622683.5	protein_coding					715		chr17	TogoVar
ARHGAP24_chr4_85470150_86007666	85487690	A A	AAATATAT others(44): Show AAATATATATTTATTATATTATATAAATATATATTTATATTATATATTAT AT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	108	0.0093	51	c.-21 others(70): Show c.-21+12150_-21+12200dupTATATAAATATATATTTATATTATAT ATTATATAATATATATTTATTATAT		ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP26_chr5_142765377_143234007	142949232	G G	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGA GA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0084 a0001c0001t0006g0084	1	100	0.0100	51	c.110 others(72): Show c.1107+17107_1107+17108insAGAGAGAGAGAGAGAGGAGAGAGG AGAGAGAGAGAGAGAGAGAGAGAGAGA		ARHGAP26	ENSG00000145819.18	transcript	ENST00000645722.2	protein_coding	11/22						chr5	TogoVar
ARHGAP27_chr17_45388908_45437870	45419137	C C	CACACTAA others(44): Show CACACTAAACCAGCTGCCGCTACCAGACCCCAGCACAGCCGGGACCCAGG AT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 NA21309.hp2 HG01891.hp2 HG02717.hp1 NA21309.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0009 a0005c0006t0015 a0005c0006t0009 a0005c0006t0015	a0005c0006t0009g0192 a0005c0006t0009g0193 a0005c0006t0015g0191 a0005c0006t0009g0192 a0005c0006t0009g0193 a0005c0006t0015g0191	3	346	0.0087	51	c.657 others(70): Show c.657+10485_657+10486insATCCTGGGTCCCGGCTGTGCTGGGGT CTGGTAGCGGCAGCTGGTTTAGTGT		ARHGAP27	ENSG00000159314.13	transcript	ENST00000685559.1	protein_coding	4/19						chr17	TogoVar
ARHGAP39_chr8_144524179_144690846	144626292	C C	CGCGGCCC others(44): Show CGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCC CG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	242	0.0041	51	c.-81 others(70): Show c.-81-20598_-81-20597insCGGGACAGGGGCTGCCGCAGTGTGCA GTGGGTGCTCCGTGAACGGGGCCGC		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11						chr8	TogoVar
ARHGDIG_chr16_275591_288010	285949	C C	CCCCGCGG others(44): Show CCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTT CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	390	0.0026	51	c.31 others(62): Show c.3135_*3136insCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCT CCCAACCCCGCGGTTCT		ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding					2940		chr16	TogoVar
ARHGEF10_chr8_1818926_1963641	1841979	G G	GACCGGAA others(44): Show GACCGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGG CC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0182 a0002c0031t0001g0182	1	362	0.0028	51	c.-47 others(68): Show c.-47-1374_-47-1373insACCGGAACTGGGGCCGCGGCGGGAACTG GGGCCGCGGCGGGAACTGGGGCC		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28						chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1954944	T T	TGGATAGC others(44): Show TGGATAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTG GA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0018 a0018	a0018c0094 a0018c0094	a0018c0094t0016 a0018c0094t0016	a0018c0094t0016g0146 a0018c0094t0016g0146	1	341	0.0029	51	c.352 others(70): Show c.3521-1761_3521-1711dupCCTCTGGAGGATAGCCAGGTGCTCCC TGAAAGGAGGTGCACTCTCACTGTT		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955189	T T	TGTTCCTC others(44): Show TGTTCCTCTGGAGGATAGCCAGGTGCATCCTGGAAGGAGGCACACTCTCA CA	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA18951.hp1 HG02683.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0005 a0001c0016t0002 a0001c0001t0005 a0001c0016t0002	a0001c0001t0005g0150 a0001c0016t0002g0237 a0001c0001t0005g0150 a0001c0016t0002g0237	2	327	0.0061	51	c.352 others(70): Show c.3521-1557_3521-1556insCCTCTGGAGGATAGCCAGGTGCATCC TGGAAGGAGGCACACTCTCACAGTT		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF7_chr13_111110310_111310732	111254586	T T	TCAGAAGA others(44): Show TCAGAAGAGGATTCGGGCTAAGGCGCTGAGTCGCTAACGTGAAGGCCGGG CC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	169	0.0059	51	c.950 others(70): Show c.950+10853_950+10903dupCCAGAAGAGGATTCGGGCTAAGGCGC TGAGTCGCTAACGTGAAGGCCGGGC		ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	8/21					INFO_REALIGN_3_PRIME	chr13	TogoVar
ARID1B_chr6_156772378_157215779	156893045	C C	CTTTTTTT others(44): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	68	0.0147	51	c.198 others(70): Show c.1987-8316_1987-8315insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTT		ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
ARL15_chr5_53878942_54315573	54029372	C C	CACCACCA others(44): Show CACCACCACTACCACCACCACCACCACCACCACCACCACCACCACCACCA CT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	197	0.0051	51	c.462 others(70): Show c.462+83829_462+83830insAGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTAGTGGTGGT		ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	4/4						chr5	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 NA19085.hp2 HG02056.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0023 a0001c0002t0002g0007 a0001c0002t0002g0023	2	259	0.0077	51	c.62 others(62): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATATAT		ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding					4762		chr3	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TATTTATA others(44): Show TATTTATACTTTATATATATATACTTTATATATATATATTTTTATATATA TA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0142 a0001c0002t0003g0142	1	113	0.0088	51	c.478 others(70): Show c.4786-1644_4786-1643insTATATATATAAAAATATATATATATA AAGTATATATATATAAAGTATAAAT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASIP_chr20_34236423_34274344	34258779	G G	GTATATAT others(44): Show GTATATATAGTGTATATATAATATATGATATATATAATACTATATATAGT AT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	204	0.0049	51	c.-10 others(68): Show c.-10-1578_-10-1577insGTGTATATATAATATATGATATATATAA TACTATATATAGTATTATATATA		ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASMTL_chrX_1398139_1457909	1405228	G G	GGTAGATG others(44): Show GGTAGATGATGGGTACGTAGATGAATGGATGGATAGATGGATGCATGGAT GA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0016 a0016	a0016c0032 a0016c0032	a0016c0032t0001 a0016c0032t0001	a0016c0032t0001g0152 a0016c0032t0001g0152	1	183	0.0055	51	c.164 others(70): Show c.1646-1740_1646-1739insTCATCCATGCATCCATCTATCCATCC ATTCATCTACGTACCCATCATCTAC		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(44): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG02165.hp2 others(2): Show HG00280.hp2 HG00423.hp2 HG02165.hp2 HG02965.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	5	292	0.0171	51	c.42 others(62): Show c.4205_*4206insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTC		ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding					3637		chr2	TogoVar
ATP10A_chr15_25673712_25868327	25758572	C C	CCACCTGC others(44): Show CCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCG AT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0291 a0004c0004t0002g0291	1	240	0.0042	51	c.655 others(70): Show c.655-22432_655-22431insATCGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGGGTGGAGCAGGTG		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP10B_chr5_160558120_160857211	160653598	C C	CATATACA others(44): Show CATATACATATATACATATATACATATACATATATACATATATACATATA TT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0016 a0016	a0016c0030 a0016c0030	a0016c0030t0030 a0016c0030t0030	a0016c0030t0030g0217 a0016c0030t0030g0217	1	142	0.0070	51	c.676 others(68): Show c.676-4343_676-4342insAATATATGTATATATGTATATATGTATA TGTATATATGTATATATGTATAT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
ATP11A_chr13_112685038_112892168	112778570	G G	GCTGGAGT others(44): Show GCTGGAGTGAGTAGCCACTGGAATGAGTAGCCGCTGGTTTGAGGAGTAGC CA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0075 a0001c0009t0075	a0001c0009t0075g0153 a0001c0009t0075g0153	1	252	0.0040	51	c.40- others(66): Show c.40-6549_40-6499dupACTGGAATGAGTAGCCGCTGGTTTGAGGAG TAGCCACTGGAGTGAGTAGCC		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718682	G G	GGGGTGCA others(44): Show GGGGTGCAGTCACGGATGTCTGCGGAGGGAGACGTCCAGGAAGGAATGGG GC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03834.hp2 HG03239.hp1 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0256 a0002c0002t0001g0283 a0002c0002t0001g0256 a0002c0002t0001g0283	2	169	0.0118	51	c.214 others(70): Show c.2140-2802_2140-2801insGCCCCATTCCTTCCTGGACGTCTCCC TCCGCAGACATCCGTGACTGCACCC		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21						chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138746005	T T	TATATATT others(44): Show TATATATTTATAATATAATATATATTTATAATATATATTATAAATATAAA TA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(193): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03209.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp2 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0012 a0014 a0015	a0001c0001 a0001c0005 a0001c0007 others(21): Show a0001c0001 a0001c0005 a0001c0007 a0001c0010 a0001c0014 a0002c0002 a0002c0003 a0002c0012 a0002c0019 a0002c0025 a0002c0046 a0003c0004 a0003c0022 a0003c0033 a0003c0036 a0004c0011 a0004c0015 a0004c0018 a0006c0009 a0007c0017 a0009c0048 a0012c0047 a0014c0028 a0015c0045	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0005t0001 a0001c0005t0003 a0001c0007t0001 a0001c0010t0004 a0001c0014t0001 a0001c0014t0004 a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0012t0001 a0002c0019t0001 a0002c0019t0003 a0002c0025t0001 a0002c0046t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0008 a0003c0022t0003 a0003c0033t0004 a0003c0036t0001 a0004c0011t0001 a0004c0015t0001 a0004c0018t0001 a0006c0009t0001 a0007c0017t0001 a0009c0048t0005 a0012c0047t0001 a0014c0028t0001 a0015c0045t0001	a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0028 others(193): Show a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0316 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0341 a0001c0001t0001g0349 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0365 a0001c0001t0001g0368 a0001c0001t0002g0030 a0001c0001t0002g0151 a0001c0001t0002g0187 a0001c0001t0002g0202 a0001c0001t0002g0240 a0001c0001t0002g0286 a0001c0001t0002g0331 a0001c0001t0003g0097 a0001c0001t0003g0179 a0001c0001t0005g0245 a0001c0001t0007g0374 a0001c0001t0010g0242 a0001c0001t0013g0372 a0001c0001t0014g0376 a0001c0005t0001g0032 a0001c0005t0001g0091 a0001c0005t0001g0120 a0001c0005t0003g0263 a0001c0007t0001g0053 a0001c0007t0001g0150 a0001c0007t0001g0310 a0001c0010t0004g0172 a0001c0014t0001g0101 a0001c0014t0001g0125 a0001c0014t0001g0307 a0001c0014t0004g0102 a0002c0002t0001g0008 a0002c0002t0001g0013 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0050 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0112 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0186 a0002c0002t0001g0190 a0002c0002t0001g0193 a0002c0002t0001g0222 a0002c0002t0001g0229 a0002c0002t0001g0247 a0002c0002t0001g0256 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0273 a0002c0002t0001g0275 a0002c0002t0001g0280 a0002c0002t0001g0284 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0303 a0002c0002t0001g0305 a0002c0002t0001g0342 a0002c0002t0001g0369 a0002c0002t0002g0081 a0002c0002t0002g0189 a0002c0003t0001g0066 a0002c0003t0002g0065 a0002c0012t0001g0080 a0002c0012t0001g0083 a0002c0012t0001g0089 a0002c0019t0001g0236 a0002c0019t0003g0267 a0002c0025t0001g0205 a0002c0025t0001g0274 a0002c0046t0001g0367 a0003c0004t0001g0105 a0003c0004t0002g0354 a0003c0004t0008g0068 a0003c0022t0003g0211 a0003c0033t0004g0364 a0003c0036t0001g0046 a0004c0011t0001g0063 a0004c0015t0001g0358 a0004c0018t0001g0026 a0004c0018t0001g0268 a0006c0009t0001g0201 a0006c0009t0001g0215 a0006c0009t0001g0216 a0006c0009t0001g0217 a0006c0009t0001g0258 a0006c0009t0001g0269 a0007c0017t0001g0353 a0009c0048t0005g0347 a0012c0047t0001g0257 a0014c0028t0001g0057 a0015c0045t0001g0019	196	357	0.5490	51	c.132 others(68): Show c.1321-726_1321-725insTATTTATATTTATAATATATATTATAAA TATATATTATATTATAAATATAT		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	13/21						chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138746005	T T	TATATATT others(44): Show TATATATTTATAATATAATATATATTTATAATATATATTATATATATAAA TA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	162	0.0062	51	c.132 others(68): Show c.1321-726_1321-725insTATTTATATATATAATATATATTATAAA TATATATTATATTATAAATATAT		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	13/21						chr7	TogoVar
ATP9B_chr18_79064394_79383283	79225929	G G	GTCTGAGT others(44): Show GTCTGAGTGACTGTTGGGTCCCGCAGTTGTACGGCAGCCACTGTCTTCAG CA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03209.hp2 HG02145.hp2 HG03209.hp2	a0002 a0005 a0002 a0005	a0002c0005 a0005c0016 a0002c0005 a0005c0016	a0002c0005t0001 a0005c0016t0001 a0002c0005t0001 a0005c0016t0001	a0002c0005t0001g0188 a0005c0016t0001g0171 a0002c0005t0001g0188 a0005c0016t0001g0171	2	3	0.6667	51	c.110 others(72): Show c.1107+11902_1107+11903insGTTGGGTCCCGCAGTTGTACGGCA GCCACTGTCTTCAGCATCTGAGTGACT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(44): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00438.hp2 HG02080.hp2 NA19010.hp2 others(1): Show HG00438.hp2 HG02080.hp2 NA19010.hp2 NA19043.hp1	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0001 a0018c0023t0001	a0018c0023t0001g0053 a0018c0023t0001g0084 a0018c0023t0001g0124 others(1): Show a0018c0023t0001g0053 a0018c0023t0001g0084 a0018c0023t0001g0124 a0018c0023t0001g0166	4	289	0.0138	51	c.916 others(58): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGC	p.Gly others(63): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln GlnGlnGlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361			chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(44): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02818.hp2 HG03471.hp2 HG06807.hp2 others(2): Show HG02818.hp2 HG03471.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2	a0018 a0023 a0018 a0023	a0018c0049 a0023c0028 a0018c0049 a0023c0028	a0018c0049t0048 a0023c0028t0015 a0023c0028t0022 others(1): Show a0018c0049t0048 a0023c0028t0015 a0023c0028t0022 a0023c0028t0036	a0018c0049t0048g0122 a0023c0028t0015g0006 a0023c0028t0022g0030 others(1): Show a0018c0049t0048g0122 a0023c0028t0015g0006 a0023c0028t0022g0030 a0023c0028t0036g0373	5	106	0.0472	51	c.915 others(58): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAG	p.Gln others(64): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl nGlnGlnGlnGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361			chr14	TogoVar
AUTS2_chr7_69593475_70798506	69614367	T T	TCTTTCTT others(44): Show TCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	51	0.0196	51	c.309 others(70): Show c.309+14405_309+14406insCTTTCTTTCTTTCTTTCTTTCTTTTC TTTCTTTTCTTTCTTTCTTTCTTTC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18						chr7	TogoVar
AUTS2_chr7_69593475_70798506	70531133	T T	TGAGAAAT others(44): Show TGAGAAATATTTGATCTAGCAAACTGTACTAAGATGAGACATAAATATCT AA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00597.hp1 others(43): Show HG00099.hp2 HG00280.hp2 HG00597.hp1 HG00741.hp1 HG01081.hp2 HG01175.hp2 HG01433.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 NA19030.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0002c0002 a0002c0010 a0003c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0008 a0001c0003t0027 a0001c0004t0012 a0001c0004t0013 a0001c0005t0030 a0001c0008t0017 a0002c0002t0001 a0002c0002t0026 a0002c0002t0031 a0002c0002t0036 a0002c0010t0033 a0003c0011t0007	a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0071 others(43): Show a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0003g0035 a0001c0001t0003g0061 a0001c0001t0003g0072 a0001c0001t0004g0042 a0001c0001t0004g0054 a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0005g0028 a0001c0001t0006g0010 a0001c0001t0007g0040 a0001c0001t0007g0055 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0014g0070 a0001c0001t0015g0002 a0001c0001t0016g0003 a0001c0001t0018g0001 a0001c0001t0019g0076 a0001c0001t0020g0029 a0001c0001t0021g0060 a0001c0001t0023g0075 a0001c0001t0025g0050 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0008g0039 a0001c0003t0008g0069 a0001c0003t0027g0009 a0001c0004t0012g0025 a0001c0004t0013g0024 a0001c0005t0030g0013 a0001c0008t0017g0046 a0002c0002t0001g0057 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0002t0036g0017 a0002c0010t0033g0014 a0003c0011t0007g0004	46	76	0.6053	51	c.690 others(70): Show c.690+95353_690+95403dupGAGAAATATTTGATCTAGCAAACTGT ACTAAGATGAGACATAAATATCTAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579588	T T	TATAATAT others(44): Show TATAATATATTATATTATATATTATGTATATAATATATTATATTATATAT TA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0160 a0002c0003t0012g0160	1	323	0.0031	51	c.168 others(68): Show c.1689-631_1689-630insATAATATATTATATTATATATTATGTAT ATAATATATTATATTATATATTA		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15						chr7	TogoVar
AXIN1_chr16_282440_357723	285949	C C	CCCCGCGG others(44): Show CCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTT CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0189 a0001c0004t0001g0189	1	339	0.0029	51	c.21 others(62): Show c.2172_*2173insAGAACCGCGGGGTTGGGAGAACCGCGGGGTTGGG GTTGGGAGAACCGCGGG		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding					1490		chr16	TogoVar
AXIN1_chr16_282440_357723	321213	C C	CTTCCATA others(44): Show CTTCCATACCCAGGCAGGAGCCGCCACCCTCCCTGGTAGTAAGGCACCAC AT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01099.hp2 others(24): Show HG00099.hp2 HG00735.hp2 HG01099.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02056.hp2 HG02129.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02622.hp2 HG02717.hp1 HG02965.hp1 HG03453.hp1 HG03471.hp1 HG03654.hp1 HG03669.hp1 HG03831.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0006 a0002c0026 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0003 a0001c0003t0007 a0001c0004t0001 a0002c0006t0001 a0002c0006t0024 a0002c0026t0024 a0003c0008t0007 a0003c0008t0037	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 others(24): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0002g0011 a0001c0002t0001g0105 a0001c0002t0001g0174 a0001c0003t0003g0210 a0001c0003t0007g0268 a0001c0003t0007g0269 a0001c0003t0007g0270 a0001c0003t0007g0271 a0001c0003t0007g0272 a0001c0003t0007g0273 a0001c0004t0001g0195 a0002c0006t0001g0229 a0002c0006t0001g0230 a0002c0006t0001g0232 a0002c0006t0001g0233 a0002c0006t0001g0234 a0002c0006t0024g0077 a0002c0026t0024g0169 a0003c0008t0007g0274 a0003c0008t0007g0276 a0003c0008t0037g0275	27	364	0.0742	51	c.879 others(68): Show c.879-6581_879-6531dupATGTGGTGCCTTACTACCAGGGAGGGTG GCGGCTCCTGCCTGGGTATGGAA		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10						chr16	TogoVar

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