Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DHRS12_chr13_51762993_51809163	51767781	C C	CGGGGGGG others(10): Show CGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	186	0.0054	17	c.40 others(26): Show c.405_*406insCCCCCCCCCCCCCCCCC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding		211		chr13	TogoVar
DHRS7B_chr17_21121964_21196420	21138075	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0373 a0001c0003t0001g0373	1	372	0.0027	17	c.20+ others(34): Show c.20+11085_20+11086insAAAAAAATATATATATA	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7B_chr17_21121964_21196420	21164030	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	108	0.0093	17	c.21- others(32): Show c.21-7972_21-7971insTTTTTTTTTTTTTTTTT	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7_chr14_60139119_60170398	60169133	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG02055.hp1 HG00642.hp1 HG00735.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0042 a0001c0001t0002g0025 a0001c0001t0002g0042	3	169	0.0178	17	c.-38 others(28): Show c.-3841_-3825dupTTTTTTTTTTTTTTTTT	DHRS7	ENSG00000100612.14	transcript	ENST00000557185.6	protein_coding		3736		chr14	TogoVar
DHRS9_chr2_169064563_169101167	169079983	G G	GAGAGAGA others(10): Show GAGAGAGAGAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	210	0.0048	17	c.-59 others(34): Show c.-59-1537_-59-1536insGAGAGAAGAAAGAAAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2228458	G G	GAGGGAGG others(10): Show GAGGGAGGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0009 a0009c0011t0009	a0009c0011t0009g0008 a0009c0011t0009g0008	1	47	0.0213	17	c.805 others(34): Show c.805-7230_805-7229insTCCTCCCTTCCCTCCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2243788	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19005.hp1 HG02486.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0004 a0001c0001t0001 a0002c0005t0004	a0001c0001t0001g0015 a0002c0005t0004g0030 a0001c0001t0001g0015 a0002c0005t0004g0030	2	21	0.0952	17	c.597 others(32): Show c.597-575_597-559dupAAAAAAAAAAAAAAAAA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314486	G G	GGAGGAAG others(10): Show GGAGGAAGGAAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp1 HG02630.hp2 HG03098.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0013 a0003c0003 a0008c0013	a0003c0003t0001 a0008c0013t0007 a0003c0003t0001 a0008c0013t0007	a0003c0003t0001g0031 a0008c0013t0007g0036 a0003c0003t0001g0031 a0008c0013t0007g0036	2	47	0.0426	17	c.287 others(36): Show c.287-22884_287-22883insACCTCCCTTCCTTCCTC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2370590	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG03098.hp1 HG02486.hp2 HG02647.hp1 HG03098.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0005 a0003c0003 a0001c0001 a0002c0005 a0003c0003	a0001c0001t0001 a0002c0005t0004 a0003c0003t0001 a0001c0001t0001 a0002c0005t0004 a0003c0003t0001	a0001c0001t0001g0029 a0002c0005t0004g0030 a0003c0003t0001g0031 a0001c0001t0001g0029 a0002c0005t0004g0030 a0003c0003t0001g0031	3	15	0.2000	17	c.286 others(36): Show c.286+38138_286+38154dupTTTTTTTTTTTTTTTTT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2485789	A A	AGAAGGGA others(10): Show AGAAGGGAGAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02293.hp1 HG02630.hp2 HG02004.hp1 HG02293.hp1 HG02630.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0013 a0001c0001 a0002c0002 a0008c0013	a0001c0001t0001 a0002c0002t0002 a0008c0013t0007 a0001c0001t0001 a0002c0002t0002 a0008c0013t0007	a0001c0001t0001g0047 a0002c0002t0002g0050 a0008c0013t0007g0036 a0001c0001t0001g0047 a0002c0002t0002g0050 a0008c0013t0007g0036	3	47	0.0638	17	c.109 others(36): Show c.109+15011_109+15027dupCTTCCTTCTCTCCCTTC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DHTKD1_chr10_12063954_12128221	12100287	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01943.hp2 others(30): Show HG00099.hp2 HG00639.hp1 HG01943.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02258.hp1 HG02300.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02886.hp2 HG02922.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG04228.hp2 NA18522.hp2 NA18940.hp2 NA18945.hp2 NA18957.hp1 NA18957.hp2 NA18971.hp1 NA18982.hp2 NA18993.hp1 NA19009.hp1 NA19057.hp2 NA19064.hp1 NA19070.hp2 NA19075.hp1 NA19085.hp1 NA19091.hp2	a0001 a0007 a0013 a0001 a0007 a0013	a0001c0001 a0001c0006 a0001c0010 others(3): Show a0001c0001 a0001c0006 a0001c0010 a0001c0015 a0007c0027 a0013c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0006t0001 a0001c0010t0002 a0001c0015t0003 a0007c0027t0001 a0013c0023t0001	a0001c0001t0001g0014 a0001c0001t0001g0128 a0001c0001t0001g0130 others(27): Show a0001c0001t0001g0014 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0022 a0001c0001t0003g0282 a0001c0001t0003g0284 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0294 a0001c0001t0003g0329 a0001c0001t0003g0355 a0001c0001t0006g0083 a0001c0006t0001g0258 a0001c0010t0002g0053 a0001c0015t0003g0352 a0007c0027t0001g0251 a0013c0023t0001g0222	33	147	0.2245	17	c.175 others(32): Show c.1756+39_1756+40insTTTTTTTTTTTTTTTTT	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
DHX15_chr4_24522475_24589554	24574205	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG00733.hp2 others(11): Show HG00408.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG02056.hp2 HG02083.hp2 HG03209.hp2 HG03516.hp1 NA18973.hp2 NA18979.hp1 NA19005.hp2 NA19068.hp1 NA19091.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0127 a0001c0001t0001g0128 others(11): Show a0001c0001t0001g0052 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0167 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0322 a0001c0001t0001g0325	14	56	0.2500	17	c.507 others(34): Show c.507+2021_507+2037dupTTTTTTTTTTTTTTTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	2/13			chr4	TogoVar
DHX29_chr5_55251055_55312694	55301713	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02717.hp2 HG01168.hp2 HG02717.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0042 a0002c0004t0004g0043 a0002c0004t0004g0042 a0002c0004t0004g0043	2	134	0.0149	17	c.188 others(34): Show c.188-3066_188-3050dupTTTTTTTTTTTTTTTTT	DHX29	ENSG00000067248.11	transcript	ENST00000251636.10	protein_coding	1/26			chr5	TogoVar
DHX30_chr3_47798138_47855193	47829314	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	143	0.0070	17	c.366 others(32): Show c.366+181_366+182insATATATATATATATTTT	DHX30	ENSG00000132153.15	transcript	ENST00000445061.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
DHX40_chr17_59560610_59613345	59585782	T T	TTTCTCTA others(10): Show TTTCTCTACTATTAATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(159): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0002c0013 a0003c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0011t0001 a0001c0012t0001 a0002c0013t0001 a0003c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(141): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0004g0052 a0001c0001t0006g0288 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0152 a0001c0005t0001g0124 a0001c0005t0001g0125 a0001c0007t0001g0084 a0001c0007t0001g0100 a0001c0008t0001g0135 a0001c0008t0001g0137 a0001c0011t0001g0059 a0001c0012t0001g0019 a0002c0013t0001g0134 a0003c0010t0001g0062	162	320	0.5063	17	c.134 others(34): Show c.1344-355_1344-354insCTTCTCTACTATTAATA	DHX40	ENSG00000108406.10	transcript	ENST00000251241.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHX40_chr17_59560610_59613345	59588229	A A	AAAAAAAC others(10): Show AAAAAAACAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02895.hp2 HG02970.hp2 others(11): Show HG01109.hp2 HG02895.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2 NA18522.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0017 a0001c0001t0001g0109 a0001c0001t0001g0110 others(10): Show a0001c0001t0001g0017 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0255 a0001c0001t0006g0288	14	322	0.0435	17	c.158 others(34): Show c.1582+182_1582+183insCAAAAAAAAACAAAAAA	DHX40	ENSG00000108406.10	transcript	ENST00000251241.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHX57_chr2_38792729_38880934	38837611	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp2 HG01256.hp1 others(9): Show HG01175.hp1 HG01175.hp2 HG01256.hp1 HG02280.hp2 HG02523.hp2 HG02818.hp1 HG03225.hp1 HG03453.hp1 HG04199.hp2 NA18522.hp1 NA19006.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0021 a0002c0002 others(2): Show a0001c0001 a0001c0021 a0002c0002 a0003c0005 a0004c0006	a0001c0001t0002 a0001c0021t0001 a0002c0002t0001 others(2): Show a0001c0001t0002 a0001c0021t0001 a0002c0002t0001 a0003c0005t0002 a0004c0006t0003	a0001c0001t0002g0212 a0001c0001t0002g0216 a0001c0001t0002g0221 others(8): Show a0001c0001t0002g0212 a0001c0001t0002g0216 a0001c0001t0002g0221 a0001c0001t0002g0254 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0021t0001g0217 a0002c0002t0001g0049 a0003c0005t0002g0003 a0003c0005t0002g0187 a0004c0006t0003g0265	12	33	0.3636	17	c.254 others(34): Show c.2542+219_2542+220insTTTTTTTTTTTTTTTTT	DHX57	ENSG00000163214.21	transcript	ENST00000457308.6	protein_coding	13/23			chr2	TogoVar
DHX8_chr17_43478975_43530670	43511456	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00597.hp1 others(25): Show HG00280.hp2 HG00544.hp2 HG00597.hp1 HG01109.hp2 HG01169.hp1 HG01515.hp2 HG01952.hp1 HG01952.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG03098.hp2 HG03490.hp2 HG03540.hp1 HG03579.hp1 HG04115.hp2 NA18962.hp1 NA18969.hp2 NA18986.hp1 NA18988.hp1 NA19055.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0002t0006	a0001c0001t0001g0191 a0001c0001t0002g0037 a0001c0001t0003g0029 others(22): Show a0001c0001t0001g0191 a0001c0001t0002g0037 a0001c0001t0003g0029 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0193 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0232 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0253 a0001c0001t0003g0264 a0001c0001t0003g0276 a0001c0001t0003g0278 a0001c0001t0003g0281 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0005g0249 a0001c0001t0014g0282 a0001c0002t0006g0250	28	31	0.9032	17	c.250 others(36): Show c.2503-1903_2503-1887dupTTTTTTTTTTTTTTTTT	DHX8	ENSG00000067596.12	transcript	ENST00000262415.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHX9_chr1_182834347_182892982	182868520	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18952.hp2 NA18983.hp2 HG03942.hp2 NA18952.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0146 a0001c0002t0001g0022 a0001c0002t0001g0146	3	160	0.0188	17	c.155 others(36): Show c.1557+1491_1557+1492insTTTTTTTTTTTTTTTTT	DHX9	ENSG00000135829.17	transcript	ENST00000367549.4	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIABLO_chr12_122202668_122231052	122226363	A A	AGGGAGGC others(10): Show AGGGAGGCGGGGCCGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02559.hp2 others(8): Show HG01884.hp2 HG02055.hp1 HG02559.hp2 HG02622.hp1 HG02717.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 NA19012.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 a0001c0001t0001 a0001c0001t0003 a0001c0002t0004	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0003g0010 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0003g0010 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0002t0004g0028	11	323	0.0341	17	c.-36 others(26): Show c.-366_-350dupGCCCGGCCCCGCCTCCC	DIABLO	ENSG00000184047.21	transcript	ENST00000464942.7	protein_coding		312		chr12	TogoVar
DIAPH2_chrX_96679842_97609997	96807944	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0149 a0001c0001t0004g0149	1	35	0.0286	17	c.447 others(36): Show c.447+49709_447+49725dupAAAAAAAAAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97112765	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0017 a0003c0009t0001g0017	1	26	0.0385	17	c.235 others(36): Show c.2350-1947_2350-1931dupTTTTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	20/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97187281	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0071 a0001c0001t0022g0071	1	4	0.2500	17	c.271 others(38): Show c.2719+45494_2719+45510dupTTTTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97300931	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18961.hp1 NA18612.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0058 a0001c0001t0002g0050 a0001c0001t0001g0058 a0001c0001t0002g0050	2	31	0.0645	17	c.284 others(38): Show c.2845-47167_2845-47151dupAAAAAAAAAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97570123	T T	TATATATA others(10): Show TATATATATATTAGAAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	86	0.0116	17	c.324 others(38): Show c.3242-29130_3242-29129insATATATATATTAGAAGA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26			chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97588996	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	6	0.1667	17	c.324 others(38): Show c.3242-10257_3242-10256insTATATATATATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26			chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59762052	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	77	0.0130	17	c.331 others(38): Show c.3319+12120_3319+12136dupAAAAAAAAAAAAAAAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59802667	A A	ATTATTAT others(10): Show ATTATTATTATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0042 a0002c0003t0002g0042	1	26	0.0385	17	c.316 others(36): Show c.3163+8120_3163+8121insAAAAAAAATAATAATAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	25/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59802667	A A	ATTATTAT others(10): Show ATTATTATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0049 a0002c0009t0001g0049	1	26	0.0385	17	c.316 others(36): Show c.3163+8120_3163+8121insAAAAAAAAAAATAATAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	25/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59802667	A A	ATTATTTT others(10): Show ATTATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0037 a0002c0004t0001g0037	1	26	0.0385	17	c.316 others(36): Show c.3163+8120_3163+8121insAAAAAAAAAAAAAATAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	25/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59802667	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	26	0.0385	17	c.316 others(36): Show c.3163+8104_3163+8120dupAAAAAAAAAAAAAAAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	25/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60052959	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp2 HG02970.hp1 others(1): Show HG02257.hp2 HG02922.hp2 HG02970.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 others(1): Show a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0002t0001g0116	4	50	0.0800	17	c.496 others(36): Show c.496-10156_496-10140dupTTTTTTTTTTTTTTTTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	4/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60105099	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02976.hp1 HG01070.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0008 a0001c0001t0003g0010	2	111	0.0180	17	c.390 others(34): Show c.390+6894_390+6910dupTTTTTTTTTTTTTTTTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	3/27			chr13	TogoVar
DICER1_chr14_95081228_95162529	95137079	A A	AAAGGAAA others(10): Show AAAGGAAAGAAGGGAAAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0057 a0001c0005t0004g0057	1	304	0.0033	17	c.-45 others(34): Show c.-45-3593_-45-3577dupCTTTCCCTTCTTTCCTT	DICER1	ENSG00000100697.17	transcript	ENST00000343455.8	protein_coding	1/26			chr14	TogoVar
DIDO1_chr20_62872743_62931505	62882605	C C	CGGGAACG others(10): Show CGGGAACGCACCGCCCCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0005 a0006c0008t0005	a0006c0008t0005g0162 a0006c0008t0005g0162	1	318	0.0031	17	c.354 others(34): Show c.3542-192_3542-191insAGGGGCGGTGCGTTCCC	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding	15/15			chr20	TogoVar
DIMT1_chr5_62382254_62408905	62389485	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01952.hp2 HG02258.hp2 others(6): Show HG00741.hp2 HG01952.hp2 HG02258.hp2 HG02486.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG03486.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0093 a0001c0001t0002g0118 others(6): Show a0001c0001t0002g0083 a0001c0001t0002g0093 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0167 a0001c0001t0002g0179	9	156	0.0577	17	c.900 others(32): Show c.900-434_900-433insTTTTTTTTTTTTTTTTT	DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding	11/11			chr5	TogoVar
DIMT1_chr5_62382254_62408905	62396139	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp1 HG03471.hp2 others(2): Show HG01884.hp2 HG02922.hp1 HG03471.hp2 HG03486.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0034 a0001c0001t0002g0140 a0001c0001t0003g0073 others(1): Show a0001c0001t0002g0034 a0001c0001t0002g0140 a0001c0001t0003g0073 a0001c0001t0004g0124	5	128	0.0391	17	c.447 others(34): Show c.447-1533_447-1532insAAAAAAAAAAAAAAAAA	DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding	6/11			chr5	TogoVar
DIO1_chr1_53889187_53916086	53915284	G G	GGACTGTC others(10): Show GGACTGTCGGAAAGAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	450	0.0022	17	c.52 others(28): Show c.5285_*5286insGACTGTCGGAAAGAAAA	DIO1	ENSG00000211452.12	transcript	ENST00000361921.8	protein_coding		4199		chr1	TogoVar
DIP2A_chr21_46453891_46575015	46461271	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp1 HG00741.hp1 others(6): Show HG00438.hp1 HG00738.hp1 HG00741.hp1 HG01175.hp2 HG02004.hp2 HG02109.hp1 HG03942.hp2 NA19009.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008	a0001c0001t0002 a0001c0001t0025 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0025 a0001c0002t0001 a0001c0004t0001 a0001c0008t0002	a0001c0001t0002g0028 a0001c0001t0025g0022 a0001c0002t0001g0020 others(6): Show a0001c0001t0002g0028 a0001c0001t0025g0022 a0001c0002t0001g0020 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0004t0001g0021 a0001c0004t0001g0023 a0001c0008t0002g0024	9	90	0.1000	17	c.91+ others(32): Show c.91+2055_91+2071dupAAAAAAAAAAAAAAAAA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46464817	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	99	0.0101	17	c.91+ others(32): Show c.91+5606_91+5622dupTTTTTTTTTTTTTTTTT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46477543	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02647.hp2 HG01261.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0133 a0001c0004t0001g0102 a0001c0001t0002g0133 a0001c0004t0001g0102	2	83	0.0241	17	c.92- others(32): Show c.92-7214_92-7213insGTGTGTGTGTGTGTGTG	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37			chr21	TogoVar
DIP2A_chr21_46453891_46575015	46495235	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0304 a0001c0003t0003g0304	1	323	0.0031	17	c.284 others(34): Show c.284-1753_284-1752insCTCTCTCTCTCTCTCTC	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37			chr21	TogoVar
DIP2A_chr21_46453891_46575015	46495240	T T	TTCTCTTC others(10): Show TTCTCTTCTCTTCTCTTC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0028	a0001c0004t0028g0262 a0001c0004t0028g0262	1	316	0.0032	17	c.284 others(34): Show c.284-1745_284-1744insCTTCTCTTCTCTTCTCT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46495242	C C	CTCTTCTC others(10): Show CTCTTCTCTTCTCTTCTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01516.hp1 HG00558.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0198 a0001c0002t0001g0270 a0001c0001t0002g0198 a0001c0002t0001g0270	2	353	0.0057	17	c.284 others(34): Show c.284-1745_284-1744insCTTCTCTTCTCTTCTTT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46573645	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG03471.hp1 HG01243.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0009 a0001c0007 a0002c0009	a0001c0007t0005 a0002c0009t0006 a0001c0007t0005 a0002c0009t0006	a0001c0007t0005g0139 a0002c0009t0006g0193 a0001c0007t0005g0139 a0002c0009t0006g0193	2	50	0.0400	17	c.60 others(28): Show c.6023_*6024insAAAAAAAAAAAAAAAAA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding		3631		chr21	TogoVar
DIP2B_chr12_50499985_50753657	50537114	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18995.hp2 HG02615.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0157 a0001c0001t0001g0140 a0001c0001t0001g0157	2	34	0.0588	17	c.100 others(36): Show c.100+31885_100+31901dupTTTTTTTTTTTTTTTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593826	C C	CCTCCTCT others(10): Show CCTCCTCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0182 a0001c0001t0008g0182	1	280	0.0036	17	c.101 others(36): Show c.101-32146_101-32145insTCTCCCCTCCCCTCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598789	C C	CCCCCCTC others(10): Show CCCCCCTCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0222 a0001c0002t0043g0222	1	235	0.0043	17	c.101 others(36): Show c.101-27183_101-27182insCTCCCCCTCCCCTCCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50716958	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01496.hp2 HG01993.hp1 others(8): Show HG01074.hp1 HG01496.hp2 HG01993.hp1 HG02083.hp2 HG02293.hp2 HG02922.hp1 HG03130.hp1 HG03654.hp1 NA18906.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0008 a0001c0001 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0006t0009 a0001c0008t0008 a0001c0001t0001 a0001c0006t0009 a0001c0008t0008	a0001c0001t0001g0024 a0001c0001t0001g0115 a0001c0001t0001g0117 others(8): Show a0001c0001t0001g0024 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0006t0009g0192 a0001c0006t0009g0194 a0001c0008t0008g0259	11	24	0.4583	17	c.285 others(36): Show c.2852-1744_2852-1728dupTTTTTTTTTTTTTTTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	23/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50721960	G G	GTTGAAGG others(10): Show GTTGAAGGGGTGTGAGTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00597.hp1 others(91): Show HG00408.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18944.hp2 NA18946.hp1 NA18950.hp2 NA18955.hp1 NA18957.hp2 NA18969.hp1 NA18980.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp2 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19085.hp1 NA19086.hp1 NA20300.hp1 NA20905.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0018 a0001c0020 a0005c0016 a0006c0017	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(13): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0044 a0001c0002t0003 a0001c0006t0009 a0001c0008t0008 a0001c0018t0038 a0001c0020t0001 a0005c0016t0001 a0006c0017t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(91): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0274 a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0009 a0001c0001t0007g0011 a0001c0001t0008g0181 a0001c0001t0008g0182 a0001c0001t0008g0261 a0001c0001t0014g0052 a0001c0001t0014g0134 a0001c0001t0014g0172 a0001c0001t0031g0153 a0001c0001t0035g0139 a0001c0001t0036g0001 a0001c0001t0037g0269 a0001c0001t0044g0270 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0171 a0001c0006t0009g0191 a0001c0006t0009g0192 a0001c0006t0009g0193 a0001c0006t0009g0194 a0001c0008t0008g0259 a0001c0008t0008g0260 a0001c0018t0038g0189 a0001c0020t0001g0162 a0005c0016t0001g0138 a0006c0017t0001g0179	94	282	0.3333	17	c.316 others(34): Show c.3166+584_3166+600dupGAAGGGGTGTGAGTTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	26/37		INFO_REALIGN_3_PRIME	chr12	TogoVar

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